Incidental Mutation 'R6462:Tgfbr1'
ID 517628
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 044596-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6462 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 47353222-47414926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 47402846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 214 (H214Q)
Ref Sequence ENSEMBL: ENSMUSP00000123761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007757] [ENSMUST00000044234] [ENSMUST00000107725] [ENSMUST00000126171]
AlphaFold Q64729
Predicted Effect probably damaging
Transcript: ENSMUST00000007757
AA Change: H283Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000007757
Gene: ENSMUSG00000007613
AA Change: H283Q

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 damaging
Transcript: ENSMUST00000044234
AA Change: H279Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048501
Gene: ENSMUSG00000007613
AA Change: H279Q

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 damaging
Transcript: ENSMUST00000107725
AA Change: H200Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103353
Gene: ENSMUSG00000007613
AA Change: H200Q

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 damaging
Transcript: ENSMUST00000126171
AA Change: H214Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123761
Gene: ENSMUSG00000007613
AA Change: H214Q

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 0.9418 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.6%
Validation Efficiency 95% (37/39)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arpc1a C T 5: 145,045,197 (GRCm39) S362F probably benign Het
Brd9 C T 13: 74,088,788 (GRCm39) A171V probably damaging Het
Camta1 A G 4: 151,170,621 (GRCm39) V62A probably damaging Het
Cdc5l G A 17: 45,703,975 (GRCm39) R750C probably benign Het
Ctdp1 C T 18: 80,463,689 (GRCm39) E116K probably damaging Het
Dync2i1 T C 12: 116,193,251 (GRCm39) N567S probably benign Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Epor T C 9: 21,870,551 (GRCm39) E443G probably benign Het
Fam90a1a A T 8: 22,449,298 (GRCm39) Q14L probably benign Het
Herc4 T C 10: 63,124,880 (GRCm39) L498P probably benign Het
Kif1b T C 4: 149,277,053 (GRCm39) M1337V probably benign Het
Lmod2 T G 6: 24,604,300 (GRCm39) V425G probably benign Het
Ly6c1 T A 15: 74,916,178 (GRCm39) probably benign Het
Me2 C A 18: 73,908,470 (GRCm39) V490F probably benign Het
Mllt3 T C 4: 87,692,338 (GRCm39) T27A probably damaging Het
Mmp1a T C 9: 7,467,039 (GRCm39) Y239H probably benign Het
Mycbp2 A G 14: 103,373,993 (GRCm39) probably null Het
Myo15b A C 11: 115,750,268 (GRCm39) E346A probably benign Het
Myo3a T C 2: 22,448,423 (GRCm39) F66S probably damaging Het
Ncor2 T C 5: 125,101,236 (GRCm39) Y137C probably damaging Het
Nup98 A T 7: 101,844,223 (GRCm39) F37L probably benign Het
Odf2l T G 3: 144,852,672 (GRCm39) L472R probably damaging Het
Or10al2 T C 17: 37,983,111 (GRCm39) Y66H probably damaging Het
P4ha3 T A 7: 99,963,873 (GRCm39) I463N probably damaging Het
Pappa C A 4: 65,043,128 (GRCm39) T117K probably damaging Het
Ppme1 C A 7: 99,987,599 (GRCm39) R271M probably benign Het
Rps6ka4 T G 19: 6,814,957 (GRCm39) E249A possibly damaging Het
Rxfp1 T A 3: 79,555,596 (GRCm39) I587F probably benign Het
Sipa1l2 A G 8: 126,217,969 (GRCm39) V456A probably damaging Het
Slc25a23 T A 17: 57,359,720 (GRCm39) I344F probably damaging Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Tbc1d10c T C 19: 4,234,893 (GRCm39) I389M possibly damaging Het
Tep1 A G 14: 51,081,836 (GRCm39) F1205L probably benign Het
Traf3ip2 T A 10: 39,515,243 (GRCm39) N340K probably benign Het
Zbbx T C 3: 74,985,966 (GRCm39) E362G probably benign Het
Zfp46 A C 4: 136,017,924 (GRCm39) T253P 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
R1299:Tgfbr1 UTSW 4 47,396,587 (GRCm39) critical splice donor site 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
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'- CATGCAAAGTTAAGGTGGCG -3'
(R):5'- CCACTGTGTCGAAAGGGAAG -3'

Sequencing Primer
(F):5'- TGCAAAGTTAAGGTGGCGTCATG -3'
(R):5'- ACATATCTCCAGTTAGGTTTCACG -3'
Posted On 2018-05-21