Incidental Mutation 'IGL02394:Triml1'
ID293922
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Triml1
Ensembl Gene ENSMUSG00000031651
Gene Nametripartite motif family-like 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.158) question?
Stock #IGL02394
Quality Score
Status
Chromosome8
Chromosomal Location43129807-43141486 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 43138592 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 243 (Q243L)
Ref Sequence ENSEMBL: ENSMUSP00000050267 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059692]
Predicted Effect possibly damaging
Transcript: ENSMUST00000059692
AA Change: Q243L

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000050267
Gene: ENSMUSG00000031651
AA Change: Q243L

DomainStartEndE-ValueType
RING 22 62 1.14e-8 SMART
coiled coil region 196 235 N/A INTRINSIC
PRY 291 343 4.64e-23 SMART
Pfam:SPRY 346 462 6.6e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211446
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211541
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a tripartite motif family protein with similarities to E3 ubiquitin-protein ligases. While the function of the encoded protein has not been determined, the orthologous protein in mouse has been shown to bind ubiquitin-specific protease 5 and is involved in the blastocyst development stage. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt3 G A 1: 177,059,419 T288M probably damaging Het
Baat A T 4: 49,489,812 probably benign Het
Bclaf3 A G X: 159,555,489 Y444C probably damaging Het
Bcs1l A G 1: 74,590,300 T166A probably damaging Het
Cep135 C T 5: 76,631,471 T776I probably benign Het
Clasrp A G 7: 19,603,254 L12P probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp4f15 A G 17: 32,692,635 I164V possibly damaging Het
Eps15 T A 4: 109,312,965 L155M probably damaging Het
Fbxl20 G A 11: 98,113,256 R69W probably damaging Het
Galnt9 A G 5: 110,615,499 M457V probably damaging Het
Gemin2 T A 12: 59,014,056 probably null Het
Gm20521 T A 14: 54,898,042 Y175N probably damaging Het
Gm3298 T A 14: 5,018,778 C178S probably benign Het
Gpr37l1 T C 1: 135,167,008 N166S probably damaging Het
Gpr45 A G 1: 43,030,112 probably benign Het
Gpr75 T C 11: 30,892,190 I365T possibly damaging Het
Gsdmc2 T C 15: 63,835,880 R22G probably damaging Het
Il23r T C 6: 67,466,272 probably benign Het
Itgam A T 7: 128,084,942 T340S probably benign Het
Klk1b24 A G 7: 44,191,870 D209G possibly damaging Het
Med13l A C 5: 118,748,833 T1600P probably benign Het
Muc16 G T 9: 18,498,700 H137Q probably damaging Het
Nin T C 12: 70,044,031 E870G probably damaging Het
Olfr1477 A G 19: 13,502,864 N174D probably damaging Het
Olfr360 A G 2: 37,068,485 Y60C probably damaging Het
Olfr811 A T 10: 129,802,313 F71I possibly damaging Het
Pkhd1 T C 1: 20,199,486 K3278R possibly damaging Het
Prlr A G 15: 10,328,578 N380D probably benign Het
Rpgr A C X: 10,166,217 S582R probably benign Het
Rph3a T C 5: 120,946,348 probably null Het
Setd5 A G 6: 113,110,898 H140R probably benign Het
Stoml3 C A 3: 53,498,119 probably benign Het
Teddm1a A C 1: 153,891,799 D3A probably benign Het
Tmem207 A G 16: 26,516,836 probably benign Het
Usp5 G A 6: 124,822,709 T274M probably damaging Het
Vav2 A G 2: 27,297,659 probably benign Het
Wdr5b A G 16: 36,042,263 N251D probably damaging Het
Wnk2 C A 13: 49,081,899 probably null Het
Other mutations in Triml1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00768:Triml1 APN 8 43140961 splice site probably benign
IGL00920:Triml1 APN 8 43138682 missense probably damaging 1.00
IGL01319:Triml1 APN 8 43141397 utr 5 prime probably benign
IGL01323:Triml1 APN 8 43138563 splice site probably null
IGL01998:Triml1 APN 8 43141313 missense probably damaging 1.00
R0359:Triml1 UTSW 8 43130505 missense probably damaging 1.00
R0400:Triml1 UTSW 8 43141040 missense probably benign 0.03
R1799:Triml1 UTSW 8 43130475 missense probably damaging 1.00
R2008:Triml1 UTSW 8 43130605 missense probably damaging 0.97
R2363:Triml1 UTSW 8 43141371 missense probably damaging 0.99
R2405:Triml1 UTSW 8 43130283 missense probably damaging 1.00
R5333:Triml1 UTSW 8 43130290 missense possibly damaging 0.82
R6093:Triml1 UTSW 8 43140718 missense probably benign 0.04
R6244:Triml1 UTSW 8 43138756 nonsense probably null
R6808:Triml1 UTSW 8 43141221 missense probably damaging 0.99
R6860:Triml1 UTSW 8 43130566 missense probably damaging 1.00
R7231:Triml1 UTSW 8 43136371 missense probably benign
R7826:Triml1 UTSW 8 43138766 missense possibly damaging 0.95
R8054:Triml1 UTSW 8 43130383 missense probably damaging 0.99
R8100:Triml1 UTSW 8 43138680 missense probably benign
R8234:Triml1 UTSW 8 43141248 missense probably benign 0.25
Z1088:Triml1 UTSW 8 43130398 missense probably damaging 1.00
Z1177:Triml1 UTSW 8 43140705 missense possibly damaging 0.73
Posted On2015-04-16