Incidental Mutation 'R1444:Tgfbr1'
ID 158700
Institutional Source Beutler Lab
Gene Symbol Tgfbr1
Ensembl Gene ENSMUSG00000007613
Gene Name transforming growth factor, beta receptor I
Synonyms TbetaR-I, ALK5, Alk-5, TbetaRI
MMRRC Submission 039499-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1444 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 47353222-47414926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 47393259 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 46 (E46G)
Ref Sequence ENSEMBL: ENSMUSP00000123761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007757] [ENSMUST00000044234] [ENSMUST00000107725] [ENSMUST00000126171]
AlphaFold Q64729
Predicted Effect probably benign
Transcript: ENSMUST00000007757
AA Change: E115G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000007757
Gene: ENSMUSG00000007613
AA Change: E115G

DomainStartEndE-ValueType
low complexity region 3 11 N/A INTRINSIC
low complexity region 13 24 N/A INTRINSIC
Pfam:Activin_recp 30 110 2.7e-16 PFAM
transmembrane domain 126 148 N/A INTRINSIC
GS 175 205 1.01e-14 SMART
Blast:STYKc 207 492 7e-31 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000044234
AA Change: E111G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000048501
Gene: ENSMUSG00000007613
AA Change: E111G

DomainStartEndE-ValueType
low complexity region 3 11 N/A INTRINSIC
low complexity region 13 24 N/A INTRINSIC
Pfam:Activin_recp 30 110 1.6e-14 PFAM
transmembrane domain 122 144 N/A INTRINSIC
GS 171 201 1.01e-14 SMART
Blast:STYKc 203 488 8e-31 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000107725
AA Change: E32G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103353
Gene: ENSMUSG00000007613
AA Change: E32G

DomainStartEndE-ValueType
transmembrane domain 43 65 N/A INTRINSIC
GS 92 122 1.01e-14 SMART
Blast:STYKc 124 409 3e-31 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000126171
AA Change: E46G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123761
Gene: ENSMUSG00000007613
AA Change: E46G

DomainStartEndE-ValueType
PDB:3KFD|L 1 45 3e-26 PDB
transmembrane domain 57 79 N/A INTRINSIC
GS 106 136 1.01e-14 SMART
Blast:STYKc 138 423 3e-31 BLAST
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.4%
  • 20x: 86.1%
Validation Efficiency 98% (59/60)
MGI Phenotype FUNCTION: This gene encodes a member of the transforming growth factor beta (TGF-beta) receptor family of proteins. These proteins comprise one component of the TGF-beta signaling pathway, which transduces extracellular signals into gene expression changes to regulate a wide range of cellular responses, including proliferation, migration, differentiation and apoptosis. Homozygous knockout mice for this gene exhibit impaired angiogenesis and embryonic lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygotes for some targeted null mutations exhibit defects of the yolk sac and placenta, lack circulating erythrocytes, and die at midgestation. Mutant endothelial cells show enhanced proliferation, improper migration, and reduced fibronectin production. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A T 8: 73,205,230 (GRCm39) D347V probably damaging Het
A630010A05Rik T A 16: 14,427,558 (GRCm39) F82I possibly damaging Het
Acad9 T A 3: 36,132,657 (GRCm39) F297L possibly damaging Het
Adgrl3 A T 5: 81,660,200 (GRCm39) Y323F probably damaging Het
Brca2 T A 5: 150,465,915 (GRCm39) M1893K probably benign Het
Cactin A T 10: 81,158,270 (GRCm39) probably null Het
Cadm4 A G 7: 24,203,046 (GRCm39) *389W probably null Het
Calr4 A G 4: 109,103,438 (GRCm39) T183A possibly damaging Het
Card10 A T 15: 78,672,041 (GRCm39) probably benign Het
Cdh6 C A 15: 13,091,924 (GRCm39) G14C probably benign Het
Cds1 A G 5: 101,946,245 (GRCm39) Y148C probably damaging Het
Chd1l C T 3: 97,490,047 (GRCm39) E503K probably benign Het
Cr1l A T 1: 194,813,510 (GRCm39) L35Q probably damaging Het
Daam2 T C 17: 49,787,779 (GRCm39) R445G possibly damaging Het
Ddn G A 15: 98,704,485 (GRCm39) T269M probably damaging Het
Epb41 G A 4: 131,733,382 (GRCm39) S176L probably benign Het
Ephx2 T C 14: 66,344,769 (GRCm39) D167G probably damaging Het
Erbb4 G A 1: 68,293,759 (GRCm39) R711C probably damaging Het
Flg2 T A 3: 93,109,620 (GRCm39) H549Q unknown Het
Gje1 A G 10: 14,592,380 (GRCm39) probably null Het
Heatr5b G A 17: 79,060,622 (GRCm39) H2018Y probably benign Het
Heatr5b A T 17: 79,062,856 (GRCm39) probably benign Het
Hectd3 G T 4: 116,853,593 (GRCm39) R189L probably benign Het
Hsd3b6 T C 3: 98,715,237 (GRCm39) T52A probably benign Het
Il10rb T G 16: 91,218,675 (GRCm39) probably null Het
Kcnc2 T C 10: 112,291,506 (GRCm39) probably benign Het
Lpl T A 8: 69,345,399 (GRCm39) D134E probably damaging Het
Lrit1 T C 14: 36,783,928 (GRCm39) F419L probably benign Het
Mmp8 T C 9: 7,567,264 (GRCm39) C422R probably benign Het
Myo18b A G 5: 112,923,117 (GRCm39) probably null Het
Ncor1 T A 11: 62,294,632 (GRCm39) I280F probably damaging Het
Obox2 A C 7: 15,130,957 (GRCm39) Q63P possibly damaging Het
Or2ad1 C T 13: 21,326,337 (GRCm39) V297I probably benign Het
Or4d2b T A 11: 87,780,585 (GRCm39) I46L probably benign Het
Phldb2 T A 16: 45,577,616 (GRCm39) probably benign Het
Pkd1l1 A G 11: 8,804,386 (GRCm39) F1735S probably damaging Het
Pramel11 G T 4: 143,623,461 (GRCm39) L238I probably benign Het
Prss30 T C 17: 24,192,712 (GRCm39) Y156C probably damaging Het
Rnf213 T C 11: 119,333,226 (GRCm39) S2812P probably damaging Het
Rttn A G 18: 89,060,991 (GRCm39) D1053G probably benign Het
Slc6a2 A G 8: 93,697,882 (GRCm39) N120S probably damaging Het
Snrnp200 T C 2: 127,070,158 (GRCm39) probably benign Het
Spindoc G T 19: 7,360,086 (GRCm39) D27E probably benign Het
Svep1 T C 4: 58,115,754 (GRCm39) T980A possibly damaging Het
Tmem183a T C 1: 134,289,284 (GRCm39) I49V probably benign Het
Tmem212 C T 3: 27,939,244 (GRCm39) V81I possibly damaging Het
Toporsl T A 4: 52,610,254 (GRCm39) I49N probably benign Het
Trim67 A G 8: 125,549,932 (GRCm39) T521A probably benign Het
Vsnl1 T C 12: 11,382,219 (GRCm39) probably null Het
Wdr87-ps T C 7: 29,229,380 (GRCm39) noncoding transcript Het
Xrn2 C T 2: 146,903,408 (GRCm39) R803W probably damaging Het
Zfp131 A T 13: 120,251,784 (GRCm39) C9S probably damaging Het
Zfp750 C T 11: 121,402,873 (GRCm39) S625N probably damaging Het
Zfp871 G T 17: 32,993,900 (GRCm39) T406N possibly damaging Het
Other mutations in Tgfbr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00708:Tgfbr1 APN 4 47,383,992 (GRCm39) missense probably benign 0.00
IGL00757:Tgfbr1 APN 4 47,405,581 (GRCm39) missense probably damaging 1.00
IGL02001:Tgfbr1 APN 4 47,403,388 (GRCm39) missense probably damaging 1.00
IGL02207:Tgfbr1 APN 4 47,410,785 (GRCm39) utr 3 prime probably benign
IGL02338:Tgfbr1 APN 4 47,393,490 (GRCm39) critical splice donor site probably null
PIT4480001:Tgfbr1 UTSW 4 47,402,955 (GRCm39) missense probably benign 0.44
R0097:Tgfbr1 UTSW 4 47,403,451 (GRCm39) nonsense probably null
R0097:Tgfbr1 UTSW 4 47,403,451 (GRCm39) nonsense probably null
R1299:Tgfbr1 UTSW 4 47,396,587 (GRCm39) critical splice donor site probably null
R1530:Tgfbr1 UTSW 4 47,410,688 (GRCm39) missense probably damaging 1.00
R1591:Tgfbr1 UTSW 4 47,403,471 (GRCm39) missense probably damaging 1.00
R1611:Tgfbr1 UTSW 4 47,396,526 (GRCm39) missense probably damaging 1.00
R2327:Tgfbr1 UTSW 4 47,402,833 (GRCm39) missense probably damaging 1.00
R4352:Tgfbr1 UTSW 4 47,402,863 (GRCm39) missense probably damaging 1.00
R4736:Tgfbr1 UTSW 4 47,383,835 (GRCm39) missense probably benign
R5180:Tgfbr1 UTSW 4 47,383,948 (GRCm39) nonsense probably null
R5907:Tgfbr1 UTSW 4 47,396,555 (GRCm39) missense probably damaging 1.00
R6462:Tgfbr1 UTSW 4 47,402,846 (GRCm39) missense probably damaging 1.00
R6842:Tgfbr1 UTSW 4 47,383,757 (GRCm39) missense probably damaging 1.00
R7017:Tgfbr1 UTSW 4 47,410,728 (GRCm39) missense probably damaging 0.99
R7206:Tgfbr1 UTSW 4 47,402,941 (GRCm39) missense probably damaging 1.00
R7402:Tgfbr1 UTSW 4 47,405,623 (GRCm39) missense probably damaging 1.00
R7862:Tgfbr1 UTSW 4 47,403,489 (GRCm39) missense probably damaging 0.99
R8210:Tgfbr1 UTSW 4 47,406,924 (GRCm39) missense probably benign 0.01
R8787:Tgfbr1 UTSW 4 47,405,555 (GRCm39) missense possibly damaging 0.94
RF013:Tgfbr1 UTSW 4 47,353,354 (GRCm39) missense unknown
Z1176:Tgfbr1 UTSW 4 47,353,790 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- TTTACCTGAGGTGACAAGTGGGGA -3'
(R):5'- GCCCTCTGAAATGAAAGGGCGAT -3'

Sequencing Primer
(F):5'- CTATAAGATAGGCTGGGGATACTC -3'
(R):5'- TCTGAAATGAAAGGGCGATCTAGTG -3'
Posted On 2014-03-14