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Table 4 Genetic variations between B10.RIII and Eae39r2 sub-congenic mice

From: The oncoprotein TBX3 is controlling severity in experimental arthritis

Genetic variations related to the mouse Tbx3 gene

 SNP ID

Location in genomea

Allelesb

Functional class

Predicted consequencec

 rs234834055

5:119669859

C/−

Promoter variant

May affect gene expression level

 rs48522093

5:119670996

C/G

5’ UTR variant

Introduction of new TFBS for f (alpha)-f (epsilon) (undocumented role)

 rs221652067

5:119674641

−/AATT

Intronic variant

No TF binding site in this region

 rs48057748

5:119675826

G/T

Intronic variant

No TF binding site in this region

 rs260549092

5:119677177

−/A

Intronic variant

No TF binding site in this region

 rs260388829

5:119680214

C/T

Intronic variant

Disruption of TFBS for c-Rel (member of NF-ĸB TF family, linked to CIA development, and lymphoid cell growth and development [86]) and Sp1 (involved in cellular processes including growth, differentiation and apoptosis)

 rs223041783

5:119681737

−/(GA)6

Intronic variant

No TF binding site in this region

 No SNP id

5:119684553

A/−

3’ UTR variant

Lies very close to mmu-miR-511 binding site (miR-511negatively regulates growth and metastasis of tumor cells in humans [87])

 rs254153782

5:119684580

A/C

3’ UTR variant

No miRNA binding site in this region

Genetic variations related to the mouse Tbx5 gene

 SNP ID

Location in genomea

Allelesb

Functional class

Predicted consequencec

 rs247725267

5:119834384–119,834,391

(TTCC)2/−

Promoter variant

May affect expression level of gene

 rs46426184

5:119859957

A/G

Intron variant

No TF binding site in this region

 rs222502452

5:119860635

C/T

Intron variant

No TF binding site in this region

 rs32145767

5:119860705

G/A

Intron variant

No TF binding site in this region

 rs242983646

5:119860887

A/C

Intron variant

Disruption of c-fos binding site (involved in cell proliferation, growth and survival pathways, including bone and immune cells [88])

 rs252594029

5:119861058

T/C

Intron variant

No TF binding site in this region

 rs246838998

5:119862700

A/G

Intron variant

No TF binding site in this region

 rs213393759

5:119862716

G/A

Intron variant

No TF binding site in this region

 rs32145773

5:119863349

T/C

Intron variant

Disruption of Sox5 binding site (linked to Th17 cell differentiation [89])

 rs32146450

5:119867116

C/T

Intron variant

No TF binding site in this region

 rs50869445

5:119868930

T/C

Intron variant

No TF binding site in this region

 rs48190630

5:119868943

T/C

Intron variant

Introduction of new TFBS for C/EBPbeta (regulating the expression of genes involved in immune and inflammatory responses [90])

 rs32147927

5:119868969

C/T

Intron variant

No TF binding site in this region

 rs228127170

5:119868977

G/A

Intron variant

No TF binding site in this region

 rs49608882

5:119869004

C/T

Intron variant

No TF binding site in this region

 rs45644322

5:119869140

G/A

Intron variant

No TF binding site in this region

 rs48943542

5:119869144

G/A

Intron variant

No TF binding site in this region

 rs6373056

5:119871760

G/A

Intron variant

No TF binding site in this region

 rs48054187

5:119878634

C/T

Intron variant

No TF binding site in this region

 rs265584798

5:119883860

C/T

3’ UTR variant

No miRNA binding site in this region

 rs255866543

5:119884274

A/G

3’ UTR variant

Lies very close to mmu-miR-6918-5p binding site (undocumented role)

 rs232783988

5:119885135

−/G

3’ UTR variant

No miRNA binding site in this region

 rs237950985

5: 119885225

C/T

Downstream variant

NA

 rs237459586

5:119885320–119,885,324

TCTTT/−

Downstream variant

NA

 rs258422458

5:119885423

C/T

Downstream variant

NA

  1. aBased on Ensembl release 74 (mouse genome assembly GRCm38)
  2. bAlleles are mentioned as B10.RIII/Eae39r2
  3. cInformation is based on transcription factor binding site (TFBS) prediction by ConSite [32] and PROMO [33] tools, and miRNA target prediction by miRDB [34]
  4. CIA collagen-induced arthritis