Incidental Mutation 'R4581:Tgfb1'
ID 343674
Institutional Source Beutler Lab
Gene Symbol Tgfb1
Ensembl Gene ENSMUSG00000002603
Gene Name transforming growth factor, beta 1
Synonyms Tgfb, TGF-beta 1, TGFbeta1, Tgfb-1, TGF-beta1
MMRRC Submission 041802-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.503) question?
Stock # R4581 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 25687002-25705077 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 25697230 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Isoleucine at position 273 (S273I)
Ref Sequence ENSEMBL: ENSMUSP00000002678 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002678] [ENSMUST00000169009]
AlphaFold P04202
Predicted Effect possibly damaging
Transcript: ENSMUST00000002678
AA Change: S273I

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000002678
Gene: ENSMUSG00000002603
AA Change: S273I

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: ENSMUST00000169009
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171757
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik C A 15: 8,171,798 (GRCm38) P20T possibly damaging Het
3425401B19Rik G T 14: 32,661,871 (GRCm38) S712R possibly damaging Het
4933427I04Rik A G 4: 123,860,353 (GRCm38) D20G possibly damaging Het
Abca7 A G 10: 80,006,568 (GRCm38) D1112G probably benign Het
Actc1 G T 2: 114,049,608 (GRCm38) H175N possibly damaging Het
Adgrd1 C T 5: 129,202,531 (GRCm38) A863V possibly damaging Het
Ankrd17 T C 5: 90,283,120 (GRCm38) D935G possibly damaging Het
Ankrd7 T A 6: 18,868,021 (GRCm38) N95K probably damaging Het
Arhgef4 G A 1: 34,732,124 (GRCm38) E1171K possibly damaging Het
Ascc3 T C 10: 50,711,025 (GRCm38) I991T probably damaging Het
Cacna1s T A 1: 136,070,970 (GRCm38) probably null Het
Camk1d A T 2: 5,354,704 (GRCm38) V177E probably benign Het
Cdh18 T A 15: 23,226,783 (GRCm38) I110N probably damaging Het
Cenpe A G 3: 135,247,000 (GRCm38) K1484E probably benign Het
Cep68 A G 11: 20,239,333 (GRCm38) S560P probably benign Het
Cog3 G T 14: 75,732,951 (GRCm38) T352K probably benign Het
Cox6a2 A G 7: 128,205,980 (GRCm38) S44P possibly damaging Het
Csmd2 T C 4: 128,369,088 (GRCm38) V689A probably benign Het
Ddx60 A T 8: 62,023,261 (GRCm38) M1548L possibly damaging Het
Dennd5b G T 6: 149,016,984 (GRCm38) silent Het
Dlgap2 T C 8: 14,846,679 (GRCm38) Y1052H probably damaging Het
Dnaaf5 T A 5: 139,184,685 (GRCm38) D502E probably damaging Het
Efhb C A 17: 53,426,275 (GRCm38) A523S probably damaging Het
Epha8 C T 4: 136,933,464 (GRCm38) V648M probably damaging Het
Fanca C T 8: 123,274,338 (GRCm38) probably null Het
Fbxw7 G A 3: 84,967,545 (GRCm38) E205K probably benign Het
Fer1l6 C T 15: 58,640,226 (GRCm38) T1514I probably damaging Het
Gm12886 T C 4: 121,416,683 (GRCm38) E112G probably damaging Het
Gm7535 T C 17: 17,911,083 (GRCm38) probably benign Het
Irf2bp2 T A 8: 126,591,255 (GRCm38) Q524L probably damaging Het
Itih4 A G 14: 30,900,968 (GRCm38) D864G probably benign Het
Kdm4c T G 4: 74,357,339 (GRCm38) probably null Het
Ltn1 A T 16: 87,402,024 (GRCm38) probably null Het
Mafa G T 15: 75,747,736 (GRCm38) P63T unknown Het
Mars2 T A 1: 55,237,862 (GRCm38) L208H probably damaging Het
Myom2 A G 8: 15,106,459 (GRCm38) I769V probably benign Het
Nyap1 A G 5: 137,736,022 (GRCm38) S250P probably damaging Het
Olfr1082 A T 2: 86,594,228 (GRCm38) M200K probably benign Het
Osmr C T 15: 6,842,894 (GRCm38) V240I probably benign Het
Pcdhga3 A G 18: 37,676,881 (GRCm38) T796A probably benign Het
Pclo T C 5: 14,675,505 (GRCm38) V1459A unknown Het
Phactr3 A C 2: 178,283,172 (GRCm38) H300P probably damaging Het
Pla2g4e T G 2: 120,186,382 (GRCm38) H226P possibly damaging Het
Plcd4 T A 1: 74,548,224 (GRCm38) W48R probably damaging Het
Prdm16 A G 4: 154,323,353 (GRCm38) S1140P probably damaging Het
Rarg A C 15: 102,252,551 (GRCm38) S18A possibly damaging Het
Rfx4 T A 10: 84,844,300 (GRCm38) S114T possibly damaging Het
Sec14l4 G A 11: 4,043,375 (GRCm38) probably null Het
Six1 T G 12: 73,045,934 (GRCm38) T165P probably benign Het
Skint4 T C 4: 112,087,042 (GRCm38) L17P probably damaging Het
Slc25a23 T A 17: 57,052,740 (GRCm38) Y337F probably damaging Het
Slc9a3 A G 13: 74,164,165 (GRCm38) Y627C probably damaging Het
Smu1 A C 4: 40,737,401 (GRCm38) probably null Het
Spryd3 A G 15: 102,130,364 (GRCm38) S141P probably damaging Het
Src A T 2: 157,463,038 (GRCm38) N175I probably damaging Het
Srcap GCTCCTCCTCCTCCTCCT GCTCCTCCTCCTCCT 7: 127,558,310 (GRCm38) probably benign Het
Stc2 A G 11: 31,365,326 (GRCm38) probably null Het
Taf6l T C 19: 8,778,208 (GRCm38) D261G probably damaging Het
Tal1 T G 4: 115,064,722 (GRCm38) V167G probably damaging Het
Tfec G A 6: 16,834,125 (GRCm38) T261I probably damaging Het
Tmem8b T A 4: 43,685,760 (GRCm38) V636E probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Trappc11 A T 8: 47,493,345 (GRCm38) M1084K probably damaging Het
Trem3 A C 17: 48,249,611 (GRCm38) T37P possibly damaging Het
Ttc7b G A 12: 100,500,117 (GRCm38) R79C probably damaging Het
Urb1 T C 16: 90,788,146 (GRCm38) D529G probably benign Het
Vmn2r8 T A 5: 108,801,704 (GRCm38) T426S probably benign Het
Yipf4 T C 17: 74,499,094 (GRCm38) Y243H probably benign Het
Zfp574 T A 7: 25,081,313 (GRCm38) C587S probably damaging Het
Zfp93 C A 7: 24,275,668 (GRCm38) H359Q probably damaging Het
Znfx1 T C 2: 167,050,316 (GRCm38) E660G probably damaging Het
Other mutations in Tgfb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01308:Tgfb1 APN 7 25,688,017 (GRCm38) missense probably damaging 1.00
IGL03028:Tgfb1 APN 7 25,704,196 (GRCm38) missense probably damaging 1.00
PIT4377001:Tgfb1 UTSW 7 25,696,918 (GRCm38) missense probably benign
R0004:Tgfb1 UTSW 7 25,692,366 (GRCm38) splice site probably benign
R0048:Tgfb1 UTSW 7 25,694,354 (GRCm38) splice site probably benign
R0048:Tgfb1 UTSW 7 25,694,354 (GRCm38) splice site probably benign
R0470:Tgfb1 UTSW 7 25,687,930 (GRCm38) unclassified probably benign
R1872:Tgfb1 UTSW 7 25,692,466 (GRCm38) missense probably damaging 1.00
R2178:Tgfb1 UTSW 7 25,704,809 (GRCm38) missense probably damaging 1.00
R5484:Tgfb1 UTSW 7 25,688,149 (GRCm38) missense probably benign 0.00
R5663:Tgfb1 UTSW 7 25,694,281 (GRCm38) missense possibly damaging 0.93
R5781:Tgfb1 UTSW 7 25,696,960 (GRCm38) missense probably benign 0.00
R6548:Tgfb1 UTSW 7 25,696,925 (GRCm38) missense probably benign 0.01
R6727:Tgfb1 UTSW 7 25,689,162 (GRCm38) unclassified probably benign
R7203:Tgfb1 UTSW 7 25,692,539 (GRCm38) critical splice donor site probably null
R7449:Tgfb1 UTSW 7 25,704,838 (GRCm38) missense probably damaging 1.00
R7654:Tgfb1 UTSW 7 25,687,695 (GRCm38) unclassified probably benign
R8257:Tgfb1 UTSW 7 25,696,948 (GRCm38) missense probably damaging 0.97
R9124:Tgfb1 UTSW 7 25,689,155 (GRCm38) nonsense probably null
R9418:Tgfb1 UTSW 7 25,692,527 (GRCm38) missense probably damaging 1.00
Z1177:Tgfb1 UTSW 7 25,688,208 (GRCm38) missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-09-24