Incidental Mutation 'IGL02338:Tgfbr1'
ID288975
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tgfbr1
Ensembl Gene ENSMUSG00000007613
Gene Nametransforming growth factor, beta receptor I
SynonymsTbetaRI, ALK5, TbetaR-I, Alk-5
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02338
Quality Score
Status
Chromosome4
Chromosomal Location47353222-47414931 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 47393490 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007757] [ENSMUST00000044234] [ENSMUST00000107725] [ENSMUST00000126171]
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
Coding Region Coverage
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 G A 4: 133,062,549 C367Y possibly damaging Het
AI182371 T A 2: 35,085,716 I279L probably benign Het
Ambp A T 4: 63,143,697 C332S probably damaging Het
App T C 16: 85,173,519 T14A probably benign Het
Asap1 A T 15: 64,123,670 probably null Het
Aurka T C 2: 172,359,858 R242G probably benign Het
BC034090 G A 1: 155,217,471 P747L probably damaging Het
Bcl6b T C 11: 70,229,092 D23G probably damaging Het
Cabp2 A C 19: 4,084,154 E42A possibly damaging Het
Ccdc14 G A 16: 34,721,803 S557N probably benign Het
Ccdc146 G T 5: 21,319,606 probably benign Het
Cenpf T A 1: 189,680,418 Q216L probably damaging Het
Ces1b G A 8: 93,057,047 P515L possibly damaging Het
Col6a5 A T 9: 105,878,630 N2198K probably damaging Het
Csmd2 A G 4: 128,395,066 S1133G possibly damaging Het
Cspg5 G A 9: 110,256,267 R502H probably benign Het
Cyp2g1 A G 7: 26,814,804 probably benign Het
Dnajc27 A G 12: 4,096,229 Y86C probably damaging Het
Dnm1 T C 2: 32,312,771 D715G probably damaging Het
Dock1 G T 7: 135,133,075 L1317F possibly damaging Het
Fanci T A 7: 79,433,531 Y727* probably null Het
Fbxw20 T A 9: 109,225,978 T168S probably benign Het
Folh1 A T 7: 86,736,515 probably benign Het
Gas7 A T 11: 67,682,731 S379C probably damaging Het
Gbp2b A G 3: 142,604,226 E259G probably benign Het
Gm8325 T C 3: 60,877,384 noncoding transcript Het
Gm9268 T C 7: 43,047,736 I739T probably damaging Het
Gpr75 A T 11: 30,891,730 T212S probably benign Het
Itgb4 A G 11: 116,007,969 T1711A probably damaging Het
Ly75 T C 2: 60,354,452 S453G probably benign Het
Maneal A G 4: 124,860,483 probably benign Het
Marco A T 1: 120,494,779 I58N possibly damaging Het
Mtcl1 A G 17: 66,379,970 I647T probably damaging Het
Mtfr1l A T 4: 134,530,743 V56D probably damaging Het
Npy1r G A 8: 66,704,302 V125I probably damaging Het
Olfr348 C T 2: 36,786,545 Q7* probably null Het
Olfr659 T C 7: 104,671,681 probably benign Het
Olfr843 A G 9: 19,248,664 L245P probably damaging Het
Osmr A T 15: 6,837,729 L362* probably null Het
Pdlim2 T C 14: 70,174,457 D42G probably damaging Het
Plcb4 T A 2: 136,000,180 I89N possibly damaging Het
Prrc2b T A 2: 32,214,035 M1175K probably benign Het
Pzp T A 6: 128,486,170 N1423I probably benign Het
Retnla G A 16: 48,844,198 C105Y probably damaging Het
Samd8 T A 14: 21,775,476 S167T possibly damaging Het
Scg2 A G 1: 79,436,493 M171T possibly damaging Het
Slc30a5 A G 13: 100,803,433 V658A probably damaging Het
Slc41a2 T C 10: 83,316,591 R7G possibly damaging Het
Slc44a2 A G 9: 21,347,042 T500A probably damaging Het
Slc44a4 G T 17: 34,923,810 G396V possibly damaging Het
Smarca5 A G 8: 80,719,570 probably benign Het
St8sia6 T A 2: 13,793,345 R34W probably damaging Het
Stk-ps2 T A 1: 46,030,177 noncoding transcript Het
Stn1 T C 19: 47,513,890 Y235C probably damaging Het
Tbx15 A G 3: 99,352,484 Y557C probably damaging Het
Thsd7b G T 1: 129,595,771 V181L probably damaging Het
Tmpo G A 10: 91,163,242 R228C probably benign Het
Trpm4 T G 7: 45,326,998 R51S probably damaging Het
Vmn1r91 A T 7: 20,101,746 T197S probably damaging Het
Xrn1 A G 9: 95,977,827 D424G probably benign Het
Yap1 A G 9: 7,962,281 probably null Het
Zer1 T C 2: 30,113,393 D4G probably damaging Het
Zfp462 A T 4: 55,010,292 I753F possibly damaging Het
Other mutations in Tgfbr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00708:Tgfbr1 APN 4 47383992 missense probably benign 0.00
IGL00757:Tgfbr1 APN 4 47405581 missense probably damaging 1.00
IGL02001:Tgfbr1 APN 4 47403388 missense probably damaging 1.00
IGL02207:Tgfbr1 APN 4 47410785 utr 3 prime probably benign
PIT4480001:Tgfbr1 UTSW 4 47402955 missense probably benign 0.44
R0097:Tgfbr1 UTSW 4 47403451 nonsense probably null
R0097:Tgfbr1 UTSW 4 47403451 nonsense probably null
R1299:Tgfbr1 UTSW 4 47396587 critical splice donor site probably null
R1444:Tgfbr1 UTSW 4 47393259 missense probably benign
R1530:Tgfbr1 UTSW 4 47410688 missense probably damaging 1.00
R1591:Tgfbr1 UTSW 4 47403471 missense probably damaging 1.00
R1611:Tgfbr1 UTSW 4 47396526 missense probably damaging 1.00
R2327:Tgfbr1 UTSW 4 47402833 missense probably damaging 1.00
R4352:Tgfbr1 UTSW 4 47402863 missense probably damaging 1.00
R4736:Tgfbr1 UTSW 4 47383835 missense probably benign
R5180:Tgfbr1 UTSW 4 47383948 nonsense probably null
R5907:Tgfbr1 UTSW 4 47396555 missense probably damaging 1.00
R6462:Tgfbr1 UTSW 4 47402846 missense probably damaging 1.00
R6842:Tgfbr1 UTSW 4 47383757 missense probably damaging 1.00
R7017:Tgfbr1 UTSW 4 47410728 missense probably damaging 0.99
R7206:Tgfbr1 UTSW 4 47402941 missense probably damaging 1.00
R7402:Tgfbr1 UTSW 4 47405623 missense probably damaging 1.00
Posted On2015-04-16