Incidental Mutation 'R2926:Tgfbrap1'
ID 255734
Institutional Source Beutler Lab
Gene Symbol Tgfbrap1
Ensembl Gene ENSMUSG00000070939
Gene Name transforming growth factor, beta receptor associated protein 1
Synonyms 3110018K12Rik
MMRRC Submission 040511-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2926 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 43086360-43137788 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 43114789 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 104 (M104L)
Ref Sequence ENSEMBL: ENSMUSP00000140413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095014] [ENSMUST00000186694] [ENSMUST00000188728] [ENSMUST00000189010] [ENSMUST00000190427]
AlphaFold Q3UR70
Predicted Effect probably damaging
Transcript: ENSMUST00000095014
AA Change: M104L

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000092624
Gene: ENSMUSG00000070939
AA Change: M104L

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: M104L

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140132
Gene: ENSMUSG00000070939
AA Change: M104L

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: ENSMUST00000187525
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187872
Predicted Effect probably benign
Transcript: ENSMUST00000188728
SMART Domains Protein: ENSMUSP00000140169
Gene: ENSMUSG00000070939

DomainStartEndE-ValueType
Pfam:Vps39_1 218 254 3.6e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000189010
AA Change: M104L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000190427
SMART Domains Protein: ENSMUSP00000140384
Gene: ENSMUSG00000070939

DomainStartEndE-ValueType
Pfam:CNH 1 53 2e-4 PFAM
Meta Mutation Damage Score 0.1753 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 98% (50/51)
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
Abcb9 G T 5: 124,216,902 (GRCm39) S438R possibly damaging Het
Add3 A G 19: 53,215,253 (GRCm39) probably null Het
Adgrb2 T C 4: 129,902,137 (GRCm39) L506P probably damaging Het
Atp6v0a1 A T 11: 100,934,774 (GRCm39) I621L probably damaging Het
Calb1 T G 4: 15,904,302 (GRCm39) L218R probably damaging Het
Ccdc162 G A 10: 41,437,203 (GRCm39) probably benign Het
Ccser2 A T 14: 36,601,518 (GRCm39) S842T possibly damaging Het
Cd300a A G 11: 114,784,139 (GRCm39) E49G possibly damaging Het
Colec11 T A 12: 28,667,428 (GRCm39) Q37L probably damaging Het
D630045J12Rik T A 6: 38,145,106 (GRCm39) I1307F probably damaging Het
Dapk1 T C 13: 60,867,564 (GRCm39) V257A possibly damaging Het
Dnah3 T A 7: 119,550,338 (GRCm39) N3327I probably damaging Het
Gja8 C T 3: 96,826,469 (GRCm39) V398I probably benign Het
Hfm1 A T 5: 107,022,148 (GRCm39) L179* probably null Het
Hsd3b9 A G 3: 98,357,872 (GRCm39) probably benign Het
Ift88 T C 14: 57,726,375 (GRCm39) Y678H probably damaging Het
Itga10 A G 3: 96,560,165 (GRCm39) N560D probably damaging Het
Itpk1 G T 12: 102,545,389 (GRCm39) P238Q probably damaging Het
Kl T C 5: 150,876,806 (GRCm39) W209R probably damaging Het
Lama4 A G 10: 38,954,828 (GRCm39) N1127S probably benign Het
Lrp1 C T 10: 127,423,982 (GRCm39) C830Y probably damaging Het
Mcmbp G A 7: 128,299,738 (GRCm39) probably benign Het
Mrps33 A G 6: 39,782,438 (GRCm39) S28P probably damaging Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Myt1 C T 2: 181,467,803 (GRCm39) T1079M possibly damaging Het
N4bp1 A T 8: 87,588,424 (GRCm39) Y171* probably null Het
Ncln G T 10: 81,324,272 (GRCm39) T442K probably benign Het
Nphp4 T C 4: 152,602,596 (GRCm39) V390A probably damaging Het
Ntrk2 C A 13: 59,208,098 (GRCm39) T648K probably damaging Het
Nwd1 A G 8: 73,393,640 (GRCm39) H301R probably damaging Het
Or4k5 A T 14: 50,385,893 (GRCm39) V146E probably benign Het
Pcdh12 T C 18: 38,415,443 (GRCm39) N561D probably damaging Het
Pcnx1 T A 12: 82,041,769 (GRCm39) S2134T probably damaging Het
Ppp1cc G A 5: 122,312,151 (GRCm39) A306T probably benign Het
Pramel3e G T X: 134,400,297 (GRCm39) A96S possibly damaging Het
Prrc2c C T 1: 162,533,696 (GRCm39) probably benign Het
Rabggta C T 14: 55,956,747 (GRCm39) R319H probably benign Het
Scn10a A C 9: 119,467,767 (GRCm39) F791C possibly damaging Het
Stab1 T A 14: 30,883,756 (GRCm39) D267V probably damaging Het
Sva A T 6: 42,019,596 (GRCm39) Y152F possibly damaging Het
Tmed4 T C 11: 6,221,728 (GRCm39) T203A probably benign Het
Toe1 C T 4: 116,662,177 (GRCm39) A331T possibly damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Trpm7 T C 2: 126,700,329 (GRCm39) probably benign Het
Ttll7 C T 3: 146,636,170 (GRCm39) R438* probably null Het
Usp11 G T X: 20,584,031 (GRCm39) G601W probably damaging Het
Vmn2r112 A G 17: 22,833,984 (GRCm39) T551A possibly damaging Het
Vmn2r73 T C 7: 85,520,871 (GRCm39) K366E probably benign Het
Vps33a A G 5: 123,707,634 (GRCm39) I111T 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
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'- TGCACTCGGTCCTCATACAC -3'
(R):5'- CACATCAGCATTGAGTGTGTGG -3'

Sequencing Primer
(F):5'- CCAGAAACATTTGGACAGTCCTG -3'
(R):5'- TATGTCGGCACCAATGACTG -3'
Posted On 2014-12-29