Incidental Mutation 'R5663:Tgfb1'
ID 444202
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 043306-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.443) question?
Stock # R5663 (G1)
Quality Score 215
Status Not validated
Chromosome 7
Chromosomal Location 25386427-25404502 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 25393706 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 192 (T192M)
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: T192M

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000002678
Gene: ENSMUSG00000002603
AA Change: T192M

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: ENSMUST00000169009
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171757
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206348
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra3 T C 5: 50,156,627 (GRCm39) N368D probably benign Het
Agfg1 T A 1: 82,871,173 (GRCm39) S444R probably damaging Het
Arhgap44 A T 11: 64,915,117 (GRCm39) F384I probably damaging Het
Atp8b2 T C 3: 89,849,101 (GRCm39) N1078D probably benign Het
Bcan G A 3: 87,902,920 (GRCm39) T286I probably damaging Het
Cacna1d A G 14: 29,845,297 (GRCm39) L624P probably damaging Het
Ccn5 G A 2: 163,667,173 (GRCm39) R58Q probably damaging Het
Cimip1 C T 2: 173,369,690 (GRCm39) P68L probably damaging Het
Dnah7c C A 1: 46,574,308 (GRCm39) F994L probably damaging Het
Dpp6 A G 5: 27,254,620 (GRCm39) I12V possibly damaging Het
Edil3 A G 13: 89,190,627 (GRCm39) I101M probably damaging Het
Elapor1 T C 3: 108,399,399 (GRCm39) T64A probably benign Het
Farp2 T C 1: 93,497,735 (GRCm39) V255A probably damaging Het
Fhip1a T C 3: 85,579,740 (GRCm39) T822A probably benign Het
Fzr1 A G 10: 81,206,360 (GRCm39) S137P probably benign Het
H2-Eb2 T C 17: 34,552,382 (GRCm39) F76L possibly damaging Het
Helb A G 10: 119,941,698 (GRCm39) I330T possibly damaging Het
Il18rap T A 1: 40,570,717 (GRCm39) C220S probably damaging Het
Kdm4c T C 4: 74,317,585 (GRCm39) V966A probably damaging Het
Kdm5b T C 1: 134,558,373 (GRCm39) V1460A probably benign Het
Kif15 T A 9: 122,820,916 (GRCm39) probably null Het
Liat1 A G 11: 75,891,047 (GRCm39) K54E probably damaging Het
Lrrc37 A G 11: 103,503,949 (GRCm39) V497A probably benign Het
Masp1 T C 16: 23,271,688 (GRCm39) E621G possibly damaging Het
Mier1 T A 4: 103,007,739 (GRCm39) S285T probably damaging Het
Mroh6 A G 15: 75,760,437 (GRCm39) S46P probably benign Het
Myo1h A T 5: 114,472,155 (GRCm39) Q395L probably damaging Het
Ndufb5 T C 3: 32,801,898 (GRCm39) I86T possibly damaging Het
Nelfb T A 2: 25,093,501 (GRCm39) E417V probably benign Het
Nfkb1 T G 3: 135,309,612 (GRCm39) D494A possibly damaging Het
Nid1 G A 13: 13,647,419 (GRCm39) C395Y probably damaging Het
Nr4a3 G T 4: 48,055,931 (GRCm39) R319I probably damaging Het
Or2ag13 T A 7: 106,472,877 (GRCm39) T192S probably benign Het
Or4e1 A T 14: 52,701,052 (GRCm39) I138K probably benign Het
Or6f2 G A 7: 139,756,234 (GRCm39) C67Y probably damaging Het
Paqr5 A G 9: 61,876,144 (GRCm39) V130A probably benign Het
Phlpp2 G A 8: 110,630,976 (GRCm39) V207I probably benign Het
Pik3ca C T 3: 32,516,928 (GRCm39) T1052M probably damaging Het
Pikfyve T C 1: 65,255,187 (GRCm39) Y347H probably benign Het
Ptprz1 A G 6: 23,035,142 (GRCm39) H1964R probably damaging Het
Rassf7 C T 7: 140,797,003 (GRCm39) T72I probably damaging Het
Rfx3 A G 19: 27,771,017 (GRCm39) F603S probably damaging Het
Slc27a4 T A 2: 29,702,382 (GRCm39) V477D probably damaging Het
Slc9a3 A C 13: 74,311,831 (GRCm39) D593A probably damaging Het
Smyd1 A G 6: 71,216,705 (GRCm39) I14T probably benign Het
Sox6 T A 7: 115,149,289 (GRCm39) I404L probably benign Het
Tas2r121 G A 6: 132,677,520 (GRCm39) H151Y probably benign Het
Ubr4 T C 4: 139,155,894 (GRCm39) Y2240H possibly damaging Het
Whrn T A 4: 63,336,685 (GRCm39) N626Y probably damaging Het
Xrra1 T A 7: 99,535,250 (GRCm39) I185N probably damaging Het
Zfp94 G A 7: 24,002,252 (GRCm39) R397W 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
R0470:Tgfb1 UTSW 7 25,387,355 (GRCm39) unclassified 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
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'- GTGTCAGAAGCCAGTGTCTG -3'
(R):5'- ACTACTTCTTGACATCACTATCGAG -3'

Sequencing Primer
(F):5'- CTGGGGCTGGTCTGGAAGC -3'
(R):5'- CACTATCGAGTGCATGTGTGTG -3'
Posted On 2016-11-09