Incidental Mutation 'R6937:Tgfbrap1'
ID 540323
Institutional Source Beutler Lab
Gene Symbol Tgfbrap1
Ensembl Gene ENSMUSG00000070939
Gene Name transforming growth factor, beta receptor associated protein 1
Synonyms 3110018K12Rik
MMRRC Submission 045051-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6937 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 43086360-43137788 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 43091064 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 687 (V687E)
Ref Sequence ENSEMBL: ENSMUSP00000140132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095014] [ENSMUST00000186694]
AlphaFold Q3UR70
Predicted Effect probably damaging
Transcript: ENSMUST00000095014
AA Change: V687E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000092624
Gene: ENSMUSG00000070939
AA Change: V687E

DomainStartEndE-ValueType
Pfam:CNH 30 293 3.3e-15 PFAM
Pfam:Vps39_1 448 550 3.3e-26 PFAM
Pfam:Clathrin 572 730 5.3e-13 PFAM
Pfam:Vps39_2 738 846 2e-35 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000186694
AA Change: V687E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140132
Gene: ENSMUSG00000070939
AA Change: V687E

DomainStartEndE-ValueType
Pfam:CNH 29 293 1.4e-17 PFAM
Pfam:Vps39_1 448 550 4.5e-26 PFAM
Pfam:Clathrin 571 730 8.4e-13 PFAM
Pfam:Vps39_2 738 846 4e-34 PFAM
Meta Mutation Damage Score 0.7124 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.1%
Validation Efficiency 98% (42/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that binds to transforming growth factor-beta (TGF-beta) receptors and plays a role in TGF-beta signaling. The encoded protein acts as a chaprone in signaling downstream of TGF-beta. It is involved in signal-dependent association with SMAD4. The protein is also a component of mammalian CORVET, a multisubunit tethering protein complex that is involved in fusion of early endosomes. [provided by RefSeq, Jun 2016]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd52 T C 10: 128,222,889 (GRCm39) V613A probably benign Het
Cdh23 A T 10: 60,322,893 (GRCm39) L337Q probably damaging Het
Chrna6 A G 8: 27,897,055 (GRCm39) L274P probably damaging Het
Ciita G A 16: 10,330,355 (GRCm39) probably null Het
Csnka2ip A T 16: 64,299,058 (GRCm39) probably benign Het
Ddx60 G A 8: 62,490,103 (GRCm39) D1691N probably damaging Het
Dnah7b T C 1: 46,234,280 (GRCm39) I1441T probably damaging Het
Dock4 T C 12: 40,884,634 (GRCm39) S1713P probably benign Het
Ep400 T C 5: 110,859,018 (GRCm39) probably benign Het
Epn1 T C 7: 5,092,943 (GRCm39) I85T probably damaging Het
Eri2 T C 7: 119,386,012 (GRCm39) K228E probably damaging Het
Garem1 C T 18: 21,280,827 (GRCm39) A510T probably benign Het
Gfm2 T A 13: 97,299,572 (GRCm39) probably null Het
Hnrnpd T C 5: 100,111,629 (GRCm39) T321A probably benign Het
Htr2a A T 14: 74,882,604 (GRCm39) I197F probably damaging Het
Krtap2-4 T A 11: 99,505,299 (GRCm39) probably benign Het
Lcn3 C A 2: 25,657,823 (GRCm39) Y179* probably null Het
Mak A T 13: 41,201,578 (GRCm39) M261K probably damaging Het
Marchf7 A G 2: 60,071,310 (GRCm39) T605A probably damaging Het
Mcm4 A C 16: 15,454,199 (GRCm39) F83V probably benign Het
Myo18b T C 5: 112,950,258 (GRCm39) N1546S probably benign Het
Nckap1 T A 2: 80,339,060 (GRCm39) K989N probably damaging Het
Ndufaf5 A G 2: 140,023,522 (GRCm39) D119G probably damaging Het
Or7g28 A T 9: 19,271,985 (GRCm39) V222D probably damaging Het
Pcdh1 T C 18: 38,336,528 (GRCm39) T36A possibly damaging Het
Pitpna C T 11: 75,494,557 (GRCm39) T100I possibly damaging Het
Pmf1 A T 3: 88,306,496 (GRCm39) L102Q probably damaging Het
Rftn2 T C 1: 55,233,508 (GRCm39) probably null Het
Robo3 A G 9: 37,341,176 (GRCm39) L10P probably benign Het
Serpinb6a T C 13: 34,102,801 (GRCm39) I241V possibly damaging Het
St14 A T 9: 31,040,956 (GRCm39) probably null Het
Stat6 T C 10: 127,494,571 (GRCm39) probably null Het
Tdpoz6 T C 3: 93,599,523 (GRCm39) N282S probably benign Het
Tdpoz8 A G 3: 92,981,417 (GRCm39) H145R probably benign Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Trim30d A T 7: 104,132,634 (GRCm39) S68T probably damaging Het
Ttn A G 2: 76,663,253 (GRCm39) probably benign Het
Ugt3a1 A T 15: 9,292,158 (GRCm39) D97V probably benign Het
Ugt8a G A 3: 125,709,250 (GRCm39) probably benign Het
Vmn1r184 A T 7: 25,966,750 (GRCm39) K165N probably benign Het
Vmn2r86 T A 10: 130,284,523 (GRCm39) I523F probably damaging Het
Wapl G A 14: 34,444,311 (GRCm39) V588I probably benign Het
Wdr7 C T 18: 63,924,938 (GRCm39) P974S probably benign Het
Zfp975 T C 7: 42,314,480 (GRCm39) D31G possibly damaging Het
Other mutations in Tgfbrap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Tgfbrap1 APN 1 43,099,283 (GRCm39) missense probably damaging 0.98
IGL02142:Tgfbrap1 APN 1 43,101,752 (GRCm39) missense probably damaging 1.00
IGL02386:Tgfbrap1 APN 1 43,114,981 (GRCm39) missense probably damaging 1.00
IGL02667:Tgfbrap1 APN 1 43,106,780 (GRCm39) missense probably benign 0.04
IGL03039:Tgfbrap1 APN 1 43,115,088 (GRCm39) missense possibly damaging 0.76
askew UTSW 1 43,098,289 (GRCm39) missense probably benign 0.22
R0245:Tgfbrap1 UTSW 1 43,114,752 (GRCm39) missense possibly damaging 0.73
R0609:Tgfbrap1 UTSW 1 43,099,301 (GRCm39) missense probably benign 0.24
R0624:Tgfbrap1 UTSW 1 43,098,289 (GRCm39) missense probably benign 0.22
R1111:Tgfbrap1 UTSW 1 43,091,136 (GRCm39) missense probably benign 0.07
R1184:Tgfbrap1 UTSW 1 43,088,856 (GRCm39) missense possibly damaging 0.65
R1469:Tgfbrap1 UTSW 1 43,114,618 (GRCm39) missense probably benign 0.03
R1469:Tgfbrap1 UTSW 1 43,114,618 (GRCm39) missense probably benign 0.03
R1571:Tgfbrap1 UTSW 1 43,088,973 (GRCm39) missense probably benign 0.21
R1615:Tgfbrap1 UTSW 1 43,091,145 (GRCm39) missense probably benign 0.00
R1704:Tgfbrap1 UTSW 1 43,093,816 (GRCm39) missense probably benign 0.00
R1773:Tgfbrap1 UTSW 1 43,114,512 (GRCm39) missense probably damaging 1.00
R1834:Tgfbrap1 UTSW 1 43,110,795 (GRCm39) missense probably damaging 1.00
R2019:Tgfbrap1 UTSW 1 43,093,677 (GRCm39) critical splice donor site probably null
R2038:Tgfbrap1 UTSW 1 43,093,794 (GRCm39) nonsense probably null
R2926:Tgfbrap1 UTSW 1 43,114,789 (GRCm39) missense probably damaging 1.00
R3842:Tgfbrap1 UTSW 1 43,098,314 (GRCm39) missense probably damaging 0.98
R4345:Tgfbrap1 UTSW 1 43,095,866 (GRCm39) missense probably benign 0.02
R5133:Tgfbrap1 UTSW 1 43,114,666 (GRCm39) missense probably damaging 0.96
R5200:Tgfbrap1 UTSW 1 43,114,803 (GRCm39) missense probably damaging 1.00
R5382:Tgfbrap1 UTSW 1 43,115,025 (GRCm39) missense probably benign 0.01
R5715:Tgfbrap1 UTSW 1 43,099,097 (GRCm39) missense possibly damaging 0.64
R6860:Tgfbrap1 UTSW 1 43,106,759 (GRCm39) missense possibly damaging 0.63
R6921:Tgfbrap1 UTSW 1 43,091,056 (GRCm39) missense probably benign
R7090:Tgfbrap1 UTSW 1 43,110,725 (GRCm39) missense probably damaging 0.99
R7359:Tgfbrap1 UTSW 1 43,114,693 (GRCm39) missense probably damaging 1.00
R8318:Tgfbrap1 UTSW 1 43,095,829 (GRCm39) missense probably damaging 0.97
R8354:Tgfbrap1 UTSW 1 43,115,070 (GRCm39) missense probably damaging 1.00
R8874:Tgfbrap1 UTSW 1 43,114,973 (GRCm39) missense probably benign 0.11
R8878:Tgfbrap1 UTSW 1 43,088,959 (GRCm39) nonsense probably null
R9030:Tgfbrap1 UTSW 1 43,095,837 (GRCm39) missense probably benign 0.00
R9150:Tgfbrap1 UTSW 1 43,114,985 (GRCm39) nonsense probably null
R9198:Tgfbrap1 UTSW 1 43,093,799 (GRCm39) missense probably damaging 1.00
R9348:Tgfbrap1 UTSW 1 43,093,695 (GRCm39) missense probably benign 0.00
R9384:Tgfbrap1 UTSW 1 43,095,912 (GRCm39) missense probably damaging 1.00
R9464:Tgfbrap1 UTSW 1 43,114,608 (GRCm39) missense probably damaging 0.99
X0028:Tgfbrap1 UTSW 1 43,110,810 (GRCm39) missense probably damaging 1.00
Z1176:Tgfbrap1 UTSW 1 43,099,307 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GGCATGATGGTTCAGCAAGTC -3'
(R):5'- TCCCTCAGTCATCTAGGTGG -3'

Sequencing Primer
(F):5'- TGGTTCAGCAAGTCCACAG -3'
(R):5'- AACCAGAGAGCCTGCTTTTG -3'
Posted On 2018-11-06