Incidental Mutation 'R0624:Tgfbrap1'
ID58764
Institutional Source Beutler Lab
Gene Symbol Tgfbrap1
Ensembl Gene ENSMUSG00000070939
Gene Nametransforming growth factor, beta receptor associated protein 1
Synonyms3110018K12Rik
MMRRC Submission 038813-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0624 (G1)
Quality Score225
Status Validated
Chromosome1
Chromosomal Location43047200-43098637 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 43059129 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Proline at position 497 (H497P)
Ref Sequence ENSEMBL: ENSMUSP00000140132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095014] [ENSMUST00000186694] [ENSMUST00000188728]
Predicted Effect probably benign
Transcript: ENSMUST00000095014
AA Change: H497P

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000092624
Gene: ENSMUSG00000070939
AA Change: H497P

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 noncoding transcript
Transcript: ENSMUST00000185980
Predicted Effect probably benign
Transcript: ENSMUST00000186694
AA Change: H497P

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000140132
Gene: ENSMUSG00000070939
AA Change: H497P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188598
Predicted Effect probably benign
Transcript: ENSMUST00000188728
SMART Domains Protein: ENSMUSP00000140169
Gene: ENSMUSG00000070939

DomainStartEndE-ValueType
Pfam:Vps39_1 218 254 3.6e-7 PFAM
Meta Mutation Damage Score 0.7129 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.2%
Validation Efficiency 98% (88/90)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik G A 11: 78,268,457 E494K probably damaging Het
Abca9 T A 11: 110,139,620 D767V probably damaging Het
Add1 T A 5: 34,605,853 N128K probably damaging Het
Ado A T 10: 67,548,228 D182E probably benign Het
Anapc4 T A 5: 52,845,419 probably benign Het
Ano10 A G 9: 122,259,595 probably benign Het
Apba2 A G 7: 64,714,515 probably null Het
Apc2 A G 10: 80,314,583 T1795A probably benign Het
Atp4a A G 7: 30,718,999 N571D probably benign Het
Birc6 A G 17: 74,580,349 N891D probably benign Het
Car3 G T 3: 14,866,804 M78I probably benign Het
Cc2d2a A T 5: 43,730,029 H1267L probably benign Het
Cdk18 A G 1: 132,118,872 L192P probably damaging Het
Cdk9 A T 2: 32,709,824 Y134N probably damaging Het
Ceacam5 A T 7: 17,714,963 T85S probably benign Het
Cenpe A G 3: 135,246,586 T1403A probably benign Het
Chd8 C T 14: 52,219,757 G918D possibly damaging Het
Csnk1e T A 15: 79,419,898 probably benign Het
Dctpp1 A T 7: 127,257,193 I119N probably damaging Het
Defb34 T A 8: 19,123,768 F6Y unknown Het
Dvl1 C G 4: 155,854,775 N248K probably damaging Het
Dync1h1 T C 12: 110,651,747 probably benign Het
Eml5 T A 12: 98,865,479 R407W probably damaging Het
Epb41l5 T C 1: 119,623,958 D99G probably damaging Het
Fat1 A T 8: 45,051,168 N4566I possibly damaging Het
Gm21834 T C 17: 57,742,020 E67G possibly damaging Het
Gsap T A 5: 21,253,951 probably null Het
Guf1 T C 5: 69,558,580 I108T probably damaging Het
Hsd3b5 T C 3: 98,619,404 D242G probably damaging Het
Kcna7 A G 7: 45,409,690 D467G probably null Het
Lars A G 18: 42,242,784 probably benign Het
Lrrc56 A T 7: 141,206,453 D248V probably damaging Het
Map3k14 T A 11: 103,242,291 E27V possibly damaging Het
Med12l G A 3: 59,037,702 W116* probably null Het
Mgll A G 6: 88,725,817 R33G probably damaging Het
Mmp13 A G 9: 7,280,221 S384G possibly damaging Het
Nalcn C T 14: 123,370,032 C675Y probably benign Het
Nrxn1 A G 17: 91,088,689 L13P unknown Het
Ocstamp A G 2: 165,397,852 V138A probably damaging Het
Olfr1120 T G 2: 87,357,682 Y79* probably null Het
Olfr1240 A G 2: 89,440,138 V47A possibly damaging Het
Olfr1303 T C 2: 111,814,711 N5S probably damaging Het
Olfr1505 T G 19: 13,919,444 C141W probably damaging Het
Olfr372 T A 8: 72,058,162 S161T possibly damaging Het
Olfr470 A G 7: 107,845,116 S206P possibly damaging Het
Patj T C 4: 98,681,235 probably benign Het
Pcdhb22 A G 18: 37,518,727 I83V probably benign Het
Pclo A G 5: 14,669,656 E1269G unknown Het
Plagl2 T C 2: 153,236,053 T3A probably benign Het
Plcb1 C T 2: 135,294,911 P309S possibly damaging Het
Pld3 A T 7: 27,539,575 L175Q possibly damaging Het
Prrx1 A G 1: 163,248,405 probably benign Het
Psap T G 10: 60,299,566 probably benign Het
Ptgfr G A 3: 151,835,202 T223M probably damaging Het
Reep2 A T 18: 34,840,771 I6F probably benign Het
Rraga A G 4: 86,576,217 E100G probably benign Het
Rrm2b T C 15: 37,931,645 D37G probably benign Het
Rtl1 T C 12: 109,592,719 I895M probably damaging Het
Ryr1 G A 7: 29,074,609 A2445V probably damaging Het
Sbf1 C T 15: 89,302,329 D898N possibly damaging Het
Sh3d19 G A 3: 86,114,906 V548I possibly damaging Het
Shf C A 2: 122,368,635 probably benign Het
Sipa1l3 T C 7: 29,387,251 E638G probably damaging Het
Slc13a3 G T 2: 165,411,887 P449T probably damaging Het
Slc2a13 C T 15: 91,350,012 V374I possibly damaging Het
Slc4a7 T C 14: 14,794,059 probably null Het
Slc7a2 T A 8: 40,908,531 S414T probably benign Het
Slc9c1 A G 16: 45,573,356 E554G probably benign Het
Smad2 T C 18: 76,299,993 I332T probably damaging Het
Snrnp40 C T 4: 130,362,658 P59S probably damaging Het
Sorcs2 A T 5: 36,065,433 I154N probably damaging Het
Sort1 G A 3: 108,348,630 G631S probably damaging Het
Sox10 T C 15: 79,159,386 D149G possibly damaging Het
Spn C T 7: 127,136,208 V376M possibly damaging Het
Tacc2 A G 7: 130,577,509 D9G probably damaging Het
Tapt1 T G 5: 44,177,106 L514F possibly damaging Het
Tcf3 A G 10: 80,413,334 L480P probably damaging Het
Tenm4 G C 7: 96,774,020 G637A probably damaging Het
Tex14 T A 11: 87,520,699 N950K probably benign Het
Tnfrsf18 A T 4: 156,026,529 Y48F possibly damaging Het
Tnxb A C 17: 34,683,548 H1002P probably damaging Het
Ttn A G 2: 76,763,227 probably benign Het
Ugt2b34 C G 5: 86,893,732 probably null Het
Vldlr A G 19: 27,238,263 D220G possibly damaging Het
Vmn1r33 A T 6: 66,612,137 Y144* probably null Het
Wdr60 T C 12: 116,248,290 D199G probably damaging Het
Wdr78 T C 4: 103,072,857 probably benign Het
Xrcc4 T C 13: 89,992,475 E205G possibly damaging Het
Other mutations in Tgfbrap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Tgfbrap1 APN 1 43060123 missense probably damaging 0.98
IGL02142:Tgfbrap1 APN 1 43062592 missense probably damaging 1.00
IGL02386:Tgfbrap1 APN 1 43075821 missense probably damaging 1.00
IGL02667:Tgfbrap1 APN 1 43067620 missense probably benign 0.04
IGL03039:Tgfbrap1 APN 1 43075928 missense possibly damaging 0.76
askew UTSW 1 43059129 missense probably benign 0.22
R0245:Tgfbrap1 UTSW 1 43075592 missense possibly damaging 0.73
R0609:Tgfbrap1 UTSW 1 43060141 missense probably benign 0.24
R1111:Tgfbrap1 UTSW 1 43051976 missense probably benign 0.07
R1184:Tgfbrap1 UTSW 1 43049696 missense possibly damaging 0.65
R1469:Tgfbrap1 UTSW 1 43075458 missense probably benign 0.03
R1469:Tgfbrap1 UTSW 1 43075458 missense probably benign 0.03
R1571:Tgfbrap1 UTSW 1 43049813 missense probably benign 0.21
R1615:Tgfbrap1 UTSW 1 43051985 missense probably benign 0.00
R1704:Tgfbrap1 UTSW 1 43054656 missense probably benign 0.00
R1773:Tgfbrap1 UTSW 1 43075352 missense probably damaging 1.00
R1834:Tgfbrap1 UTSW 1 43071635 missense probably damaging 1.00
R2019:Tgfbrap1 UTSW 1 43054517 critical splice donor site probably null
R2038:Tgfbrap1 UTSW 1 43054634 nonsense probably null
R2926:Tgfbrap1 UTSW 1 43075629 missense probably damaging 1.00
R3842:Tgfbrap1 UTSW 1 43059154 missense probably damaging 0.98
R4345:Tgfbrap1 UTSW 1 43056706 missense probably benign 0.02
R5133:Tgfbrap1 UTSW 1 43075506 missense probably damaging 0.96
R5200:Tgfbrap1 UTSW 1 43075643 missense probably damaging 1.00
R5382:Tgfbrap1 UTSW 1 43075865 missense probably benign 0.01
R5715:Tgfbrap1 UTSW 1 43059937 missense possibly damaging 0.64
R6860:Tgfbrap1 UTSW 1 43067599 missense possibly damaging 0.63
R6921:Tgfbrap1 UTSW 1 43051896 missense probably benign
R6937:Tgfbrap1 UTSW 1 43051904 missense probably damaging 0.99
R7090:Tgfbrap1 UTSW 1 43071565 missense probably damaging 0.99
R7359:Tgfbrap1 UTSW 1 43075533 missense probably damaging 1.00
X0028:Tgfbrap1 UTSW 1 43071650 missense probably damaging 1.00
Z1176:Tgfbrap1 UTSW 1 43060147 missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GCCTCGGTATATATGGAGTCCGAGAC -3'
(R):5'- GAGTAAAGAGCTGAGCCTTCTTGACC -3'

Sequencing Primer
(F):5'- GGAGTCCGAGACTAATTTTCAAAAG -3'
(R):5'- AAGCTCCCTTAGGTCACAGTG -3'
Posted On2013-07-11