Incidental Mutation 'IGL01336:Trim31'
ID74630
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 #IGL01336
Quality Score
Status
Chromosome17
Chromosomal Location36898118-36910214 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 36909377 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Glutamic Acid at position 395 (A395E)
Ref Sequence ENSEMBL: ENSMUSP00000077535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078438]
Predicted Effect probably damaging
Transcript: ENSMUST00000078438
AA Change: A395E

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000077535
Gene: ENSMUSG00000058063
AA Change: A395E

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly G T 11: 100,495,910 L599I probably benign Het
Adcyap1 A G 17: 93,203,964 D122G probably benign Het
Ahr A G 12: 35,503,840 V760A probably benign Het
Ankrd7 T C 6: 18,868,278 V133A probably benign Het
Bsn A G 9: 108,111,785 V2256A probably damaging Het
Cblb A G 16: 52,186,229 K765E probably benign Het
Clmp A G 9: 40,782,610 *374W probably null Het
Ddc A G 11: 11,846,630 probably null Het
Dnah10 A G 5: 124,775,512 Y1878C probably damaging Het
Ei24 A G 9: 36,786,481 probably null Het
Gm12394 T A 4: 42,793,784 Q116L possibly damaging Het
Gm8394 T C 10: 85,314,164 noncoding transcript Het
Ikbke A G 1: 131,273,756 M118T probably damaging Het
Il6st T C 13: 112,480,239 S107P possibly damaging Het
Map2k6 A G 11: 110,496,411 Y203C probably damaging Het
Mettl27 C T 5: 134,935,880 probably benign Het
Mrps14 G A 1: 160,196,995 W32* probably null Het
Naaa A C 5: 92,265,133 M208R probably benign Het
Nat2 A G 8: 67,501,541 Y101C probably damaging Het
Ncoa3 A G 2: 166,054,523 S449G probably benign Het
Olfr1507 A G 14: 52,490,748 I72T probably damaging Het
Olfr5 T C 7: 6,480,998 I53V probably benign Het
Phykpl G A 11: 51,599,456 probably benign Het
Rasgrf1 A T 9: 89,991,530 M631L probably benign Het
Rgma G A 7: 73,409,318 V57M possibly damaging Het
Samd4b G T 7: 28,413,963 D192E probably benign Het
Sesn2 T C 4: 132,499,367 T139A probably benign Het
Slc30a6 A G 17: 74,408,839 probably benign Het
Stra8 T C 6: 34,933,188 Y182H possibly damaging Het
Trp53bp2 G T 1: 182,431,583 R67L probably damaging Het
Trpa1 A C 1: 14,886,880 probably benign Het
Wdr91 G A 6: 34,909,543 probably benign Het
Other mutations in Trim31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00486:Trim31 APN 17 36909241 missense probably benign 0.02
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
R8506:Trim31 UTSW 17 36907258 critical splice acceptor site probably null
Posted On2013-10-07