Incidental Mutation 'R5847:Tgfbi'
ID 453693
Institutional Source Beutler Lab
Gene Symbol Tgfbi
Ensembl Gene ENSMUSG00000035493
Gene Name transforming growth factor, beta induced
Synonyms 68kDa, bIG-h3, Beta-ig
MMRRC Submission 044065-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R5847 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 56757399-56787172 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 56784418 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 615 (E615K)
Ref Sequence ENSEMBL: ENSMUSP00000153546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045173] [ENSMUST00000225600]
AlphaFold P82198
Predicted Effect possibly damaging
Transcript: ENSMUST00000045173
AA Change: E615K

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000037719
Gene: ENSMUSG00000035493
AA Change: E615K

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 possibly damaging
Transcript: ENSMUST00000225600
AA Change: E615K

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226024
Meta Mutation Damage Score 0.0718 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency 100% (62/62)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 T A 10: 14,302,521 (GRCm39) Y964F probably damaging Het
Akap3 T A 6: 126,842,521 (GRCm39) L380Q probably damaging Het
Alpk1 A G 3: 127,473,723 (GRCm39) I760T probably benign Het
Aoc1l2 T A 6: 48,910,412 (GRCm39) F701L probably damaging Het
Arhgap20 G A 9: 51,736,276 (GRCm39) probably benign Het
Cacng3 T C 7: 122,361,532 (GRCm39) F113S possibly damaging Het
Ccdc158 G T 5: 92,775,339 (GRCm39) N955K probably benign Het
Ccdc63 T A 5: 122,254,908 (GRCm39) M368L possibly damaging Het
Cnot2 T C 10: 116,363,851 (GRCm39) T18A probably damaging Het
Ctnna2 A T 6: 76,950,820 (GRCm39) D550E possibly damaging Het
Cyp2c37 C T 19: 40,000,176 (GRCm39) R433W probably damaging Het
Dact2 A G 17: 14,419,450 (GRCm39) S103P probably damaging Het
Dek A G 13: 47,255,077 (GRCm39) probably benign Het
Dnah9 CAGTTGCTTAAA CA 11: 65,986,066 (GRCm39) probably null Het
Dock4 A G 12: 40,671,250 (GRCm39) Y23C probably damaging Het
Edar T A 10: 58,439,001 (GRCm39) S344C probably damaging Het
Epg5 T C 18: 78,073,270 (GRCm39) V2431A probably benign Het
Evc2 C T 5: 37,562,068 (GRCm39) probably benign Het
Idh3b A T 2: 130,125,948 (GRCm39) D41E probably benign Het
Igkv8-24 A T 6: 70,193,956 (GRCm39) V84D probably damaging Het
Iqca1l A T 5: 24,749,164 (GRCm39) L778Q probably benign Het
Mgam T C 6: 40,660,989 (GRCm39) I1118T probably benign Het
Mtmr3 A G 11: 4,432,925 (GRCm39) V1116A probably damaging Het
Myoc A G 1: 162,466,936 (GRCm39) Y35C probably damaging Het
Ncr1 A T 7: 4,347,573 (GRCm39) D246V probably benign Het
Nphp3 A G 9: 103,880,236 (GRCm39) E86G probably damaging Het
Or2l13b A T 16: 19,349,076 (GRCm39) V198E probably damaging Het
Or52e5 A T 7: 104,719,064 (GRCm39) Y130F probably benign Het
Or8h7 A C 2: 86,720,676 (GRCm39) V281G probably damaging Het
Pbld1 A T 10: 62,912,193 (GRCm39) I275L probably benign Het
Pde12 A G 14: 26,386,786 (GRCm39) V574A possibly damaging Het
Pdxk G T 10: 78,280,872 (GRCm39) D189E probably benign Het
Pkhd1 C A 1: 20,444,960 (GRCm39) E2276* probably null Het
Ppp1r10 A G 17: 36,237,739 (GRCm39) N237S possibly damaging Het
Rheb T A 5: 25,012,067 (GRCm39) Y131F probably benign Het
Rpgrip1l T C 8: 92,031,613 (GRCm39) D88G probably damaging Het
Scgb2b33 T C 7: 32,812,239 (GRCm39) noncoding transcript Het
Snx9 C A 17: 5,974,896 (GRCm39) N461K possibly damaging Het
Tbc1d2b C A 9: 90,091,777 (GRCm39) V842F probably damaging Het
Tmem51 A G 4: 141,759,346 (GRCm39) M134T probably damaging Het
Tox4 A G 14: 52,524,241 (GRCm39) D125G probably damaging Het
Trappc3 A T 4: 126,167,771 (GRCm39) N110I probably damaging Het
Trim11 T A 11: 58,881,419 (GRCm39) D437E probably damaging Het
Ttc23l T C 15: 10,537,682 (GRCm39) N196S probably benign Het
Wnk1 C A 6: 119,969,369 (GRCm39) G362V probably damaging Het
Wwc1 A G 11: 35,758,153 (GRCm39) F731S probably damaging Het
Wwp1 A T 4: 19,662,174 (GRCm39) D140E possibly damaging Het
Zfp24 G A 18: 24,151,095 (GRCm39) P17L possibly damaging Het
Zfp354b T C 11: 50,814,043 (GRCm39) E294G probably damaging Het
Zfp853 C T 5: 143,274,424 (GRCm39) V399M unknown Het
Zfp868 T C 8: 70,064,303 (GRCm39) H344R probably damaging 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
R3613:Tgfbi UTSW 13 56,773,539 (GRCm39) missense probably damaging 1.00
R4815:Tgfbi UTSW 13 56,779,933 (GRCm39) missense probably benign 0.45
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'- CCTACATAAGGCAGGAGAAGTCTG -3'
(R):5'- TGCCTCAAGTTCTGTAGCATG -3'

Sequencing Primer
(F):5'- CAGGAGAAGTCTGCAGAGGGC -3'
(R):5'- CTTAAAACCACAGTCCTGGGTTGG -3'
Posted On 2017-02-10