Incidental Mutation 'IGL01319:Triml1'
ID73997
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: 0.135) question?
Stock #IGL01319
Quality Score
Status
Chromosome8
Chromosomal Location43129807-43141486 bp(-) (GRCm38)
Type of Mutationutr 5 prime
DNA Base Change (assembly) A to G at 43141397 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000050267 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059692]
Predicted Effect probably benign
Transcript: ENSMUST00000059692
SMART Domains Protein: ENSMUSP00000050267
Gene: ENSMUSG00000031651

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 T A 3: 40,933,642 V307E probably benign Het
Bub1b T C 2: 118,614,994 I265T possibly damaging Het
Cntnap3 G A 13: 64,787,837 T404I probably damaging Het
Disc1 T C 8: 125,087,891 S165P probably damaging Het
Dock1 T C 7: 134,789,278 F756L probably benign Het
Dock2 A G 11: 34,698,790 V480A possibly damaging Het
Drc3 A G 11: 60,364,962 D125G probably null Het
Emid1 C T 11: 5,143,859 C96Y probably damaging Het
F13b A G 1: 139,506,793 N99S probably damaging Het
Fam20a A G 11: 109,678,458 probably benign Het
Fancd2 C A 6: 113,584,899 T1243K probably damaging Het
Fbxw14 T C 9: 109,278,791 K172E probably damaging Het
Gm13941 T C 2: 111,094,805 probably null Het
Gtpbp4 A T 13: 8,985,260 N354K probably benign Het
Igkv2-116 T C 6: 68,152,404 L50P probably benign Het
Klrb1-ps1 C T 6: 129,116,585 P23L possibly damaging Het
Kng2 T A 16: 23,028,834 I26F probably damaging Het
Krt81 G A 15: 101,463,388 H104Y probably benign Het
Lrpprc T C 17: 84,705,412 probably benign Het
Man2a2 C T 7: 80,361,132 V704M possibly damaging Het
Mbip A G 12: 56,330,242 V303A probably benign Het
Mipep A T 14: 60,843,271 M571L probably benign Het
Ncan A T 8: 70,097,562 V1188D probably damaging Het
Pcdhb4 T C 18: 37,308,513 V292A probably benign Het
Pkd1 T C 17: 24,587,919 probably benign Het
Ppp2r2c T A 5: 36,947,121 S282T possibly damaging Het
Rad54l2 C T 9: 106,719,046 G231D probably benign Het
Rnf20 T G 4: 49,649,326 D443E probably damaging Het
Rptor A G 11: 119,891,170 M1108V probably benign Het
Serpine2 A G 1: 79,810,694 V182A probably damaging Het
Sesn2 C T 4: 132,499,967 probably benign Het
Shank1 C A 7: 44,353,123 A1422E possibly damaging Het
Slc13a4 C T 6: 35,307,353 probably null Het
Snrnp200 T C 2: 127,230,127 probably benign Het
Src G A 2: 157,469,503 G461R probably damaging Het
Tbxas1 A G 6: 39,017,973 I178V probably benign Het
Tmem2 C T 19: 21,844,757 P1172L possibly damaging Het
Tsen2 A T 6: 115,576,984 Q441L probably damaging Het
Ttc23l A G 15: 10,509,406 probably benign Het
Ttc37 A G 13: 76,129,379 H491R probably benign Het
Ttn T C 2: 76,881,304 probably benign Het
Vsig10l C T 7: 43,465,254 S293L probably damaging Het
Zcchc13 C A X: 103,631,000 Q110K possibly damaging 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
IGL01323:Triml1 APN 8 43138563 splice site probably null
IGL01998:Triml1 APN 8 43141313 missense probably damaging 1.00
IGL02394:Triml1 APN 8 43138592 missense possibly damaging 0.57
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 On2013-10-07