Incidental Mutation 'R1299:Tgfbr1'
ID 158239
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 039365-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1299 (G1)
Quality Score 209
Status Validated
Chromosome 4
Chromosomal Location 47353222-47414926 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 47396587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007757] [ENSMUST00000044234] [ENSMUST00000107725] [ENSMUST00000126171]
AlphaFold Q64729
Predicted Effect probably null
Transcript: ENSMUST00000007757
SMART Domains Protein: ENSMUSP00000007757
Gene: ENSMUSG00000007613

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 null
Transcript: ENSMUST00000044234
SMART Domains Protein: ENSMUSP00000048501
Gene: ENSMUSG00000007613

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 null
Transcript: ENSMUST00000107725
SMART Domains Protein: ENSMUSP00000103353
Gene: ENSMUSG00000007613

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 null
Transcript: ENSMUST00000126171
SMART Domains Protein: ENSMUSP00000123761
Gene: ENSMUSG00000007613

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 0.9490 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 100% (38/38)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,244,821 (GRCm39) L2228P possibly damaging Het
Acnat1 T A 4: 49,450,925 (GRCm39) E62V possibly damaging Het
Adam7 A G 14: 68,763,748 (GRCm39) probably benign Het
Ate1 A T 7: 130,106,485 (GRCm39) V292D probably damaging Het
Cbx8 T C 11: 118,931,676 (GRCm39) M1V probably null Het
Cdc73 T C 1: 143,575,019 (GRCm39) D58G probably benign Het
Cgnl1 G A 9: 71,628,994 (GRCm39) probably benign Het
Col27a1 G A 4: 63,183,868 (GRCm39) probably benign Het
Fam133b T C 5: 3,604,626 (GRCm39) probably benign Het
Fndc3a A G 14: 72,803,638 (GRCm39) probably benign Het
Golga3 G A 5: 110,352,709 (GRCm39) A867T probably benign Het
Gpr142 A T 11: 114,695,185 (GRCm39) Y50F probably benign Het
Gramd1c A G 16: 43,803,865 (GRCm39) probably benign Het
Gypa G A 8: 81,223,382 (GRCm39) V53I unknown Het
H2-DMb2 T C 17: 34,369,561 (GRCm39) V235A probably benign Het
Igkv10-94 T C 6: 68,681,482 (GRCm39) probably benign Het
Katnip A C 7: 125,451,195 (GRCm39) M1109L probably benign Het
Klhl17 T C 4: 156,315,419 (GRCm39) Y484C probably damaging Het
Ltbp3 T C 19: 5,795,456 (GRCm39) probably benign Het
Mapkbp1 G A 2: 119,845,885 (GRCm39) C412Y probably damaging Het
Mblac2 C A 13: 81,859,845 (GRCm39) C65* probably null Het
Or5b104 T A 19: 13,072,494 (GRCm39) N173Y possibly damaging Het
Or6c217 A G 10: 129,737,946 (GRCm39) I211T probably benign Het
Parn G A 16: 13,482,593 (GRCm39) T85M probably benign Het
Pcdhb22 T C 18: 37,653,643 (GRCm39) S704P probably damaging Het
Prex1 A G 2: 166,427,827 (GRCm39) F942L possibly damaging Het
Prox1 G T 1: 189,879,140 (GRCm39) probably benign Het
Prss55 A T 14: 64,319,147 (GRCm39) I70N probably damaging Het
Slc25a13 C T 6: 6,113,937 (GRCm39) probably null Het
Smarca2 T C 19: 26,749,011 (GRCm39) probably null Het
Smarcc2 C A 10: 128,297,247 (GRCm39) N46K probably damaging Het
Tdpoz4 A T 3: 93,703,769 (GRCm39) Y22F probably benign Het
Xpr1 A C 1: 155,292,949 (GRCm39) I11S probably damaging Het
Zfp354b A C 11: 50,814,297 (GRCm39) S209R probably benign Het
Zfp882 A G 8: 72,667,317 (GRCm39) E88G probably 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
R1444:Tgfbr1 UTSW 4 47,393,259 (GRCm39) missense probably benign
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'- ACCATTGTGTTACAAGAAAGCATTGGC -3'
(R):5'- AGCACGTCCAGACTTTGATACATTCC -3'

Sequencing Primer
(F):5'- TTACAAGAAAGCATTGGCAAAGGTC -3'
(R):5'- agcacctaagctcagattcc -3'
Posted On 2014-02-18