Incidental Mutation 'R3613:Tgfbi'
ID 269292
Institutional Source Beutler Lab
Gene Symbol Tgfbi
Ensembl Gene ENSMUSG00000035493
Gene Name transforming growth factor, beta induced
Synonyms 68kDa, bIG-h3, Beta-ig
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R3613 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 56757399-56787172 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 56773539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 179 (R179Q)
Ref Sequence ENSEMBL: ENSMUSP00000037719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045173] [ENSMUST00000225600]
AlphaFold P82198
Predicted Effect probably damaging
Transcript: ENSMUST00000045173
AA Change: R179Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037719
Gene: ENSMUSG00000035493
AA Change: R179Q

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
FAS1 139 239 1.35e-33 SMART
FAS1 276 374 6.75e-34 SMART
FAS1 411 501 1.16e-14 SMART
FAS1 538 635 6.75e-34 SMART
low complexity region 656 667 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225300
Predicted Effect probably damaging
Transcript: ENSMUST00000225600
AA Change: R179Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an RGD-containing protein that binds to type I, II and IV collagens. The RGD motif is found in many extracellular matrix proteins modulating cell adhesion and serves as a ligand recognition sequence for several integrins. This protein plays a role in cell-collagen interactions and may be involved in endochondrial bone formation in cartilage. The protein is induced by transforming growth factor-beta and acts to inhibit cell adhesion. Mutations in this gene are associated with multiple types of corneal dystrophy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show delayed growth and are prone to spontaneous and induced tumors. Homozygotes for a second null allele are prone to STZ-induced diabetes and show impaired islet function under stress. Homozygotes for a third null allele show a transient decrease in retinal apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 C T 14: 118,864,863 (GRCm39) probably null Het
Ccdc110 T A 8: 46,395,843 (GRCm39) M578K possibly damaging Het
Ctsh A C 9: 89,957,763 (GRCm39) M281L probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Hinfp T C 9: 44,209,041 (GRCm39) H359R probably damaging Het
Hps5 A G 7: 46,426,298 (GRCm39) probably null Het
Lsamp T C 16: 41,775,686 (GRCm39) V179A probably benign Het
Nr1i3 T A 1: 171,042,564 (GRCm39) C63* probably null Het
Or6c5c A T 10: 129,298,937 (GRCm39) T131S probably benign Het
Pdk2 T C 11: 94,918,072 (GRCm39) E387G probably benign Het
Pelp1 T C 11: 70,286,261 (GRCm39) N572S probably benign Het
Rdh16f2 A T 10: 127,710,808 (GRCm39) I142F probably benign Het
Sdk1 A T 5: 142,105,441 (GRCm39) H1515L probably damaging Het
Sema5b C T 16: 35,480,520 (GRCm39) T729I probably benign Het
Vmn1r27 A T 6: 58,192,787 (GRCm39) N72K probably damaging Het
Vps13a G A 19: 16,662,766 (GRCm39) T1573M probably damaging Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Other mutations in Tgfbi
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00766:Tgfbi APN 13 56,778,408 (GRCm39) missense probably benign 0.41
IGL02021:Tgfbi APN 13 56,779,166 (GRCm39) missense probably damaging 1.00
IGL02325:Tgfbi APN 13 56,779,043 (GRCm39) missense probably benign 0.00
PIT4486001:Tgfbi UTSW 13 56,777,607 (GRCm39) missense probably damaging 0.98
R0008:Tgfbi UTSW 13 56,777,587 (GRCm39) missense probably benign 0.00
R0122:Tgfbi UTSW 13 56,775,781 (GRCm39) missense probably damaging 1.00
R0389:Tgfbi UTSW 13 56,777,515 (GRCm39) missense probably benign 0.02
R0419:Tgfbi UTSW 13 56,780,006 (GRCm39) splice site probably benign
R0432:Tgfbi UTSW 13 56,780,004 (GRCm39) splice site probably benign
R0671:Tgfbi UTSW 13 56,786,539 (GRCm39) missense probably null 1.00
R0825:Tgfbi UTSW 13 56,786,523 (GRCm39) splice site probably benign
R1263:Tgfbi UTSW 13 56,778,468 (GRCm39) missense probably damaging 1.00
R1597:Tgfbi UTSW 13 56,780,004 (GRCm39) splice site probably benign
R1864:Tgfbi UTSW 13 56,780,694 (GRCm39) missense probably benign 0.16
R1940:Tgfbi UTSW 13 56,762,127 (GRCm39) missense possibly damaging 0.92
R2570:Tgfbi UTSW 13 56,786,521 (GRCm39) splice site probably null
R3111:Tgfbi UTSW 13 56,757,547 (GRCm39) missense probably damaging 1.00
R4815:Tgfbi UTSW 13 56,779,933 (GRCm39) missense probably benign 0.45
R5847:Tgfbi UTSW 13 56,784,418 (GRCm39) missense possibly damaging 0.94
R6314:Tgfbi UTSW 13 56,773,976 (GRCm39) missense probably benign 0.01
R6810:Tgfbi UTSW 13 56,785,016 (GRCm39) missense probably benign
R6821:Tgfbi UTSW 13 56,773,950 (GRCm39) missense possibly damaging 0.95
R6943:Tgfbi UTSW 13 56,784,989 (GRCm39) missense possibly damaging 0.77
R7165:Tgfbi UTSW 13 56,775,829 (GRCm39) missense probably damaging 0.99
R7297:Tgfbi UTSW 13 56,779,926 (GRCm39) missense possibly damaging 0.74
R7770:Tgfbi UTSW 13 56,780,657 (GRCm39) splice site probably null
R7910:Tgfbi UTSW 13 56,779,997 (GRCm39) missense probably damaging 1.00
R7914:Tgfbi UTSW 13 56,777,502 (GRCm39) missense probably damaging 1.00
R8721:Tgfbi UTSW 13 56,773,599 (GRCm39) missense probably benign 0.08
R8758:Tgfbi UTSW 13 56,779,894 (GRCm39) missense probably damaging 1.00
R8978:Tgfbi UTSW 13 56,778,391 (GRCm39) missense probably benign 0.01
R9002:Tgfbi UTSW 13 56,771,402 (GRCm39) missense probably damaging 1.00
R9171:Tgfbi UTSW 13 56,773,526 (GRCm39) missense probably damaging 0.99
R9286:Tgfbi UTSW 13 56,773,563 (GRCm39) missense probably damaging 1.00
R9689:Tgfbi UTSW 13 56,762,100 (GRCm39) missense probably damaging 1.00
R9700:Tgfbi UTSW 13 56,778,411 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CTTAGAAGAGGCATCTAGGTCC -3'
(R):5'- CTAAGGGCAGGATGTCTGTG -3'

Sequencing Primer
(F):5'- AGAGGCATCTAGGTCCACTTG -3'
(R):5'- GGGCCAGCCTAAGGTTTATCAAATC -3'
Posted On 2015-02-19