Incidental Mutation 'R2038:Tgfbrap1'
ID 225259
Institutional Source Beutler Lab
Gene Symbol Tgfbrap1
Ensembl Gene ENSMUSG00000070939
Gene Name transforming growth factor, beta receptor associated protein 1
Synonyms 3110018K12Rik
MMRRC Submission 040045-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2038 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 43086360-43137788 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 43093794 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 566 (L566*)
Ref Sequence ENSEMBL: ENSMUSP00000140132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095014] [ENSMUST00000186694]
AlphaFold Q3UR70
Predicted Effect probably null
Transcript: ENSMUST00000095014
AA Change: L566*
SMART Domains Protein: ENSMUSP00000092624
Gene: ENSMUSG00000070939
AA Change: L566*

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 null
Transcript: ENSMUST00000186694
AA Change: L566*
SMART Domains Protein: ENSMUSP00000140132
Gene: ENSMUSG00000070939
AA Change: L566*

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022B05Rik T C 8: 125,389,762 (GRCm39) Y54C probably damaging Het
Adgrf4 A T 17: 42,978,754 (GRCm39) H196Q probably damaging Het
Astn1 T G 1: 158,484,690 (GRCm39) S918A probably benign Het
Cd79a A T 7: 24,598,782 (GRCm39) K110N probably benign Het
Cdc34b C T 11: 94,633,114 (GRCm39) Q105* probably null Het
Cdh23 T C 10: 60,148,366 (GRCm39) D2667G probably damaging Het
Clpx G A 9: 65,224,775 (GRCm39) G168R probably damaging Het
Col8a2 T C 4: 126,205,108 (GRCm39) probably benign Het
Ddx27 G A 2: 166,875,675 (GRCm39) E669K probably damaging Het
Dnah8 A T 17: 30,977,255 (GRCm39) I2898F probably damaging Het
Dus2 T C 8: 106,775,294 (GRCm39) Y274H probably damaging Het
Dync2h1 A G 9: 6,967,226 (GRCm39) S4073P probably damaging Het
Dynlrb2 G A 8: 117,241,549 (GRCm39) R31Q possibly damaging Het
Esyt1 C T 10: 128,347,820 (GRCm39) V957I probably benign Het
Fhdc1 A T 3: 84,351,868 (GRCm39) L1119Q probably benign Het
H2-T10 T C 17: 36,430,317 (GRCm39) K212E probably benign Het
H60b A T 10: 22,162,114 (GRCm39) N113I probably benign Het
Hace1 A C 10: 45,576,721 (GRCm39) K798Q probably benign Het
Hdac7 C T 15: 97,696,151 (GRCm39) R631H probably damaging Het
Kat7 T A 11: 95,190,928 (GRCm39) I153F probably benign Het
Lman1 T C 18: 66,131,681 (GRCm39) T101A probably benign Het
Mapk8 A T 14: 33,110,893 (GRCm39) C245* probably null Het
Mfhas1 T A 8: 36,058,431 (GRCm39) W969R probably damaging Het
Mlxipl A T 5: 135,135,853 (GRCm39) D26V probably damaging Het
Msh5 A G 17: 35,265,016 (GRCm39) V53A probably benign Het
Msl2 C A 9: 100,979,183 (GRCm39) A519D probably damaging Het
Nbeal1 A G 1: 60,245,503 (GRCm39) S176G probably benign Het
Ninl T A 2: 150,817,763 (GRCm39) K134* probably null Het
Or10d1 A G 9: 39,484,283 (GRCm39) S91P probably damaging Het
Or1e25 T A 11: 73,494,239 (GRCm39) Y278N probably damaging Het
Or4a68 C A 2: 89,269,689 (GRCm39) M311I probably benign Het
Pabpn1 T G 14: 55,134,609 (GRCm39) I250S probably damaging Het
Ppp4r4 G A 12: 103,542,539 (GRCm39) probably null Het
Rad51ap2 T C 12: 11,507,025 (GRCm39) S316P possibly damaging Het
Scn7a C A 2: 66,567,780 (GRCm39) W271C probably damaging Het
Set T C 2: 29,960,212 (GRCm39) S182P probably benign Het
Sez6l T C 5: 112,620,618 (GRCm39) T321A possibly damaging Het
Sfpq A T 4: 126,915,295 (GRCm39) H29L unknown Het
Slc33a1 A G 3: 63,855,577 (GRCm39) L356P probably damaging Het
Sptbn1 C G 11: 30,109,293 (GRCm39) probably null Het
Srrd C T 5: 112,486,316 (GRCm39) G179D probably benign Het
Taf4b T C 18: 14,940,456 (GRCm39) S312P probably damaging Het
Tln2 T A 9: 67,304,935 (GRCm39) M1L probably benign Het
Ttc27 T C 17: 75,163,497 (GRCm39) F702L probably benign Het
Vmn2r54 C T 7: 12,363,637 (GRCm39) G419R possibly damaging Het
Vps13b A G 15: 35,884,887 (GRCm39) S3187G probably damaging Het
Vps13d C A 4: 144,907,685 (GRCm39) probably null Het
Vps35l T C 7: 118,411,097 (GRCm39) F677L probably damaging Het
Zfp568 A T 7: 29,688,507 (GRCm39) E23V probably null 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
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
R6937:Tgfbrap1 UTSW 1 43,091,064 (GRCm39) missense probably damaging 0.99
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'- AGCCAGGTTTCCTCTCCTAAG -3'
(R):5'- TTCCTGTCTATGGTGTACGC -3'

Sequencing Primer
(F):5'- CTAAGCTGTTAGTGACATTGCAGCC -3'
(R):5'- GCTGGACTGTTTTCTCCATATTTTTG -3'
Posted On 2014-08-25