Incidental Mutation 'IGL00486:Trim31'
ID3852
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trim31
Ensembl Gene ENSMUSG00000058063
Gene Nametripartite motif-containing 31
SynonymsHCG1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00486
Quality Score
Status
Chromosome17
Chromosomal Location36898118-36910214 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 36909241 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 350 (Q350K)
Ref Sequence ENSEMBL: ENSMUSP00000077535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078438]
Predicted Effect probably benign
Transcript: ENSMUST00000078438
AA Change: Q350K

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000077535
Gene: ENSMUSG00000058063
AA Change: Q350K

DomainStartEndE-ValueType
RING 16 55 6.63e-10 SMART
BBOX 89 130 1.29e-12 SMART
low complexity region 149 164 N/A INTRINSIC
coiled coil region 269 299 N/A INTRINSIC
PRY 332 387 4.4e-2 SMART
Pfam:SPRY 390 506 1.6e-9 PFAM
Coding Region Coverage
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 functions as an E3 ubiquitin-protein ligase. This gene shows altered expression in certain tumors and may be a negative regulator of cell growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 120,246,853 T576A probably damaging Het
As3mt A G 19: 46,720,425 E286G probably benign Het
Baiap3 G T 17: 25,248,377 probably benign Het
C1qc T C 4: 136,890,134 E217G probably damaging Het
Ccser2 A G 14: 36,940,064 Y388H probably damaging Het
Clcn7 C A 17: 25,151,123 A328D probably damaging Het
Clstn1 G A 4: 149,635,243 R415Q probably damaging Het
Hcn4 T C 9: 58,860,053 S966P unknown Het
Heph A T X: 96,527,678 D748V probably damaging Het
Herc1 C T 9: 66,476,120 T3691I probably benign Het
Hsd17b14 A G 7: 45,566,713 T236A possibly damaging Het
Kif28 C A 1: 179,702,516 L693F probably damaging Het
Mnd1 T C 3: 84,138,198 E33G possibly damaging Het
Nbas T G 12: 13,453,075 D1520E probably benign Het
Poli C T 18: 70,525,490 G81R probably damaging Het
Pou6f2 G A 13: 18,139,585 S401F probably damaging Het
Ppp1r3c G A 19: 36,733,924 R149W probably damaging Het
Ptprc C A 1: 138,115,621 C64F probably damaging Het
Ptprz1 T C 6: 22,973,054 Y274H probably damaging Het
Ranbp2 T A 10: 58,477,612 L1385I probably benign Het
Sgms1 A T 19: 32,159,625 F180L probably damaging Het
Slc7a9 T A 7: 35,460,887 M396K probably damaging Het
Syt17 T C 7: 118,434,290 D165G probably damaging Het
Tnxb T C 17: 34,692,382 L1553P probably damaging Het
Wnk3 A G X: 151,233,029 R494G probably damaging Het
Zmym6 A G 4: 127,124,185 probably benign Het
Other mutations in Trim31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01336:Trim31 APN 17 36909377 missense probably damaging 0.97
IGL01420:Trim31 APN 17 36898411 missense probably benign 0.01
R1485:Trim31 UTSW 17 36898676 missense probably damaging 1.00
R1901:Trim31 UTSW 17 36901800 missense probably benign 0.06
R2962:Trim31 UTSW 17 36899904 missense probably damaging 1.00
R4569:Trim31 UTSW 17 36898741 missense probably benign 0.37
R5352:Trim31 UTSW 17 36899918 missense possibly damaging 0.83
R5439:Trim31 UTSW 17 36905905 critical splice acceptor site probably null
R6128:Trim31 UTSW 17 36909599 missense probably benign 0.00
R6179:Trim31 UTSW 17 36909609 missense probably damaging 1.00
R6441:Trim31 UTSW 17 36907791 missense possibly damaging 0.57
R7068:Trim31 UTSW 17 36898516 missense probably damaging 1.00
R7310:Trim31 UTSW 17 36907302 missense probably benign 0.00
R7459:Trim31 UTSW 17 36909662 missense probably damaging 0.98
Posted On2012-04-20