Incidental Mutation 'R0470:Tgfb1'
ID 41794
Institutional Source Beutler Lab
Gene Symbol Tgfb1
Ensembl Gene ENSMUSG00000002603
Gene Name transforming growth factor, beta 1
Synonyms Tgfb, TGF-beta1, TGF-beta 1, Tgfb-1, TGFbeta1
MMRRC Submission 038670-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.443) question?
Stock # R0470 (G1)
Quality Score 82
Status Validated
Chromosome 7
Chromosomal Location 25386427-25404502 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to A at 25387355 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145950 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002678] [ENSMUST00000108403] [ENSMUST00000169009] [ENSMUST00000205325] [ENSMUST00000205658] [ENSMUST00000206913]
AlphaFold P04202
Predicted Effect unknown
Transcript: ENSMUST00000002678
AA Change: L21Q
SMART Domains Protein: ENSMUSP00000002678
Gene: ENSMUSG00000002603
AA Change: L21Q

DomainStartEndE-ValueType
low complexity region 2 23 N/A INTRINSIC
Pfam:TGFb_propeptide 29 261 3.2e-41 PFAM
TGFB 293 390 1.95e-39 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108403
SMART Domains Protein: ENSMUSP00000104040
Gene: ENSMUSG00000063439

DomainStartEndE-ValueType
Pfam:B9-C2 4 164 5.1e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169009
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171757
Predicted Effect probably benign
Transcript: ENSMUST00000205325
Predicted Effect probably benign
Transcript: ENSMUST00000205658
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206348
Predicted Effect probably benign
Transcript: ENSMUST00000206913
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206584
Meta Mutation Damage Score 0.1237 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 93.0%
Validation Efficiency 98% (55/56)
MGI Phenotype FUNCTION: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. This encoded protein regulates cell proliferation, differentiation and growth, and can modulate expression and activation of other growth factors including interferon gamma and tumor necrosis factor alpha. Mice lacking a functional copy of this gene develop severe multifocal inflammatory disease, yolk sac defects and colon cancer. [provided by RefSeq, Aug 2016]
PHENOTYPE: Many homozygous null mutants die in utero by day 10.5 from yolk sac vasculature and hemopoietic defects. Survivors die by 5 weeks with wasting syndrome, excess inflammatory response and tissue necrosis. On BALB/c, mice develop necroinflammatory hepatitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T G 19: 8,986,331 (GRCm39) D2538E probably benign Het
Akr1c13 T A 13: 4,248,500 (GRCm39) L235H probably damaging Het
Ank G A 15: 27,571,721 (GRCm39) C331Y probably damaging Het
Ankrd12 T C 17: 66,293,129 (GRCm39) E768G probably benign Het
Atm A T 9: 53,372,266 (GRCm39) V2172E probably damaging Het
Atp10b T A 11: 43,093,866 (GRCm39) L470Q possibly damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Ccn4 A G 15: 66,789,227 (GRCm39) I238V probably benign Het
Cdadc1 A T 14: 59,811,290 (GRCm39) probably benign Het
Cfhr2 A T 1: 139,749,517 (GRCm39) V155E probably damaging Het
Chp1 C T 2: 119,391,244 (GRCm39) R34C probably damaging Het
Cilp2 A T 8: 70,338,055 (GRCm39) V192E possibly damaging Het
Cyth1 T C 11: 118,023,074 (GRCm39) probably benign Het
Dnah8 T A 17: 30,927,514 (GRCm39) probably benign Het
Gja3 T C 14: 57,273,884 (GRCm39) T163A probably damaging Het
Gsdmcl1 C T 15: 63,722,280 (GRCm39) noncoding transcript Het
Herc6 C T 6: 57,596,437 (GRCm39) T459M probably damaging Het
Hexb A G 13: 97,314,507 (GRCm39) L412P probably damaging Het
Il17ra T G 6: 120,458,767 (GRCm39) D639E probably benign Het
Kcnh5 G A 12: 75,161,188 (GRCm39) T240I probably benign Het
Lef1 T C 3: 130,906,475 (GRCm39) probably benign Het
Lilrb4a T A 10: 51,370,923 (GRCm39) N282K possibly damaging Het
Mbnl2 A T 14: 120,642,062 (GRCm39) H342L probably damaging Het
Minar2 C T 18: 59,208,711 (GRCm39) R120C probably damaging Het
Nipal3 A G 4: 135,174,683 (GRCm39) V356A probably damaging Het
Or2a54 C G 6: 43,093,558 (GRCm39) A294G probably null Het
Or51i1 A T 7: 103,670,877 (GRCm39) I216N probably damaging Het
Plekha6 G A 1: 133,200,045 (GRCm39) R208Q probably benign Het
Prkar1b A G 5: 139,036,504 (GRCm39) I82T probably damaging Het
Prrc1 C T 18: 57,496,469 (GRCm39) T140M probably damaging Het
Psg22 A C 7: 18,453,589 (GRCm39) S95R probably damaging Het
Ptk6 T C 2: 180,837,732 (GRCm39) T396A probably benign Het
Ptov1 A G 7: 44,514,235 (GRCm39) S9P probably damaging Het
Scin A C 12: 40,123,291 (GRCm39) probably benign Het
Sec13 T C 6: 113,717,593 (GRCm39) probably benign Het
Setd1a G A 7: 127,384,229 (GRCm39) probably benign Het
Sf3a2 G A 10: 80,640,388 (GRCm39) probably benign Het
Shmt1 T C 11: 60,683,789 (GRCm39) Y341C possibly damaging Het
Slc27a4 T A 2: 29,694,197 (GRCm39) L7Q probably benign Het
Slc41a2 T C 10: 83,152,086 (GRCm39) M130V possibly damaging Het
Sorcs3 T C 19: 48,785,956 (GRCm39) probably null Het
Tex24 C T 8: 27,834,936 (GRCm39) R155* probably null Het
Tmc5 A G 7: 118,239,154 (GRCm39) D349G possibly damaging Het
Trappc13 C T 13: 104,297,512 (GRCm39) V131I possibly damaging Het
Trim66 A G 7: 109,056,749 (GRCm39) probably benign Het
Tspoap1 T C 11: 87,666,988 (GRCm39) S1027P probably damaging Het
Usp34 C T 11: 23,386,001 (GRCm39) H2143Y possibly damaging Het
Vmn1r179 A C 7: 23,627,818 (GRCm39) Y3S probably benign Het
Vmn1r231 G A 17: 21,110,265 (GRCm39) Q217* probably null Het
Vmn1r62 T A 7: 5,679,066 (GRCm39) L249* probably null Het
Vmn1r71 G C 7: 10,482,019 (GRCm39) S223C possibly damaging Het
Vmn2r109 T C 17: 20,773,148 (GRCm39) Q491R probably benign Het
Vwf G A 6: 125,605,391 (GRCm39) V925M possibly damaging Het
Zbtb6 A C 2: 37,319,505 (GRCm39) L141W probably damaging Het
Zranb1 G T 7: 132,584,500 (GRCm39) L615F probably damaging Het
Other mutations in Tgfb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01308:Tgfb1 APN 7 25,387,442 (GRCm39) missense probably damaging 1.00
IGL03028:Tgfb1 APN 7 25,403,621 (GRCm39) missense probably damaging 1.00
PIT4377001:Tgfb1 UTSW 7 25,396,343 (GRCm39) missense probably benign
R0004:Tgfb1 UTSW 7 25,391,791 (GRCm39) splice site probably benign
R0048:Tgfb1 UTSW 7 25,393,779 (GRCm39) splice site probably benign
R0048:Tgfb1 UTSW 7 25,393,779 (GRCm39) splice site probably benign
R1872:Tgfb1 UTSW 7 25,391,891 (GRCm39) missense probably damaging 1.00
R2178:Tgfb1 UTSW 7 25,404,234 (GRCm39) missense probably damaging 1.00
R4581:Tgfb1 UTSW 7 25,396,655 (GRCm39) missense possibly damaging 0.81
R5484:Tgfb1 UTSW 7 25,387,574 (GRCm39) missense probably benign 0.00
R5663:Tgfb1 UTSW 7 25,393,706 (GRCm39) missense possibly damaging 0.93
R5781:Tgfb1 UTSW 7 25,396,385 (GRCm39) missense probably benign 0.00
R6548:Tgfb1 UTSW 7 25,396,350 (GRCm39) missense probably benign 0.01
R6727:Tgfb1 UTSW 7 25,388,587 (GRCm39) unclassified probably benign
R7203:Tgfb1 UTSW 7 25,391,964 (GRCm39) critical splice donor site probably null
R7449:Tgfb1 UTSW 7 25,404,263 (GRCm39) missense probably damaging 1.00
R7654:Tgfb1 UTSW 7 25,387,120 (GRCm39) unclassified probably benign
R8257:Tgfb1 UTSW 7 25,396,373 (GRCm39) missense probably damaging 0.97
R9124:Tgfb1 UTSW 7 25,388,580 (GRCm39) nonsense probably null
R9418:Tgfb1 UTSW 7 25,391,952 (GRCm39) missense probably damaging 1.00
Z1177:Tgfb1 UTSW 7 25,387,633 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CACCCACTTTTGGATCTCAGAGAGC -3'
(R):5'- ACGCGGGTGACCTCTTTAGCATAG -3'

Sequencing Primer
(F):5'- TCCCTCAACCTCAAATTATTCAGG -3'
(R):5'- AGCATAGTAGTCCGCTTCG -3'
Posted On 2013-05-23