Incidental Mutation 'IGL03382:Triml2'
ID420743
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Triml2
Ensembl Gene ENSMUSG00000091490
Gene Nametripartite motif family-like 2
SynonymsEG622117
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #IGL03382
Quality Score
Status
Chromosome8
Chromosomal Location43180541-43193881 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 43193739 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 422 (T422A)
Ref Sequence ENSEMBL: ENSMUSP00000148196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163869] [ENSMUST00000209200] [ENSMUST00000209872] [ENSMUST00000210136]
Predicted Effect probably benign
Transcript: ENSMUST00000163869
AA Change: T422A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000132971
Gene: ENSMUSG00000091490
AA Change: T422A

DomainStartEndE-ValueType
Pfam:zf-B_box 13 51 7e-7 PFAM
PRY 242 294 2.86e-14 SMART
Pfam:SPRY 297 414 2.2e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209200
AA Change: T422A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000209872
AA Change: T375A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000210136
AA Change: T422A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
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 member of the tri-partite motif (TRIM) family of proteins. This protein may be regulated by the tumor suppressor p53 and may regulate p53 through the enhancement of p53 SUMOylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930021J03Rik C T 19: 29,717,276 G1606R probably damaging Het
Aff1 A G 5: 103,841,060 D831G possibly damaging Het
Amer2 A G 14: 60,379,882 K509E possibly damaging Het
Ankrd6 T C 4: 32,808,771 K449E probably damaging Het
Atp8b2 G A 3: 89,948,521 P459L probably benign Het
Atr C T 9: 95,920,822 R1846* probably null Het
Ccdc159 C A 9: 21,931,696 probably null Het
Ccna1 A C 3: 55,047,277 Y338D probably damaging Het
Cpq A T 15: 33,212,943 E36V probably damaging Het
Cyp2c23 A G 19: 44,014,932 I268T probably damaging Het
Dctn2 G T 10: 127,278,188 Q332H probably damaging Het
Dnah17 T A 11: 118,081,943 I2055F probably damaging Het
Dnmt3b A G 2: 153,686,359 H764R probably damaging Het
Gphn T A 12: 78,481,313 I135K probably damaging Het
Hnrnpul1 A G 7: 25,750,984 M1T probably null Het
Htra4 T C 8: 25,029,698 D406G probably benign Het
Klk10 G T 7: 43,784,459 probably benign Het
Lilrb4a T A 10: 51,491,520 W53R probably benign Het
Magel2 T C 7: 62,378,713 V455A probably benign Het
Mrgprb5 T C 7: 48,168,694 T98A probably benign Het
Mrps35 T A 6: 147,049,875 C76* probably null Het
Myh7b C T 2: 155,623,479 R701C probably damaging Het
Nbeal1 G A 1: 60,261,586 probably null Het
Neb T A 2: 52,325,708 M196L probably benign Het
Nmd3 A G 3: 69,735,088 K207R probably damaging Het
Plxna4 C T 6: 32,202,194 R962Q probably benign Het
Pom121 T C 5: 135,392,407 K230E unknown Het
Psme4 A G 11: 30,807,788 D307G possibly damaging Het
Rnf41 T G 10: 128,438,280 M267R possibly damaging Het
Sis T C 3: 72,928,719 N846D probably benign Het
Slc22a19 T A 19: 7,681,862 I463L probably benign Het
Slc25a39 A T 11: 102,406,204 probably null Het
Slc35b2 C T 17: 45,566,645 R233C probably damaging Het
Slc4a4 T C 5: 89,228,836 L983P probably damaging Het
Sp110 A C 1: 85,577,329 F434C probably benign Het
Tbc1d10a A G 11: 4,209,984 Y123C probably damaging Het
Thbs4 A C 13: 92,769,548 I395S probably benign Het
Ubn2 T C 6: 38,440,447 probably benign Het
Vmn1r15 T A 6: 57,258,570 M141K probably benign Het
Vmn2r80 A G 10: 79,169,528 E333G probably damaging Het
Zfp169 T C 13: 48,491,163 probably benign Het
Zfp942 G A 17: 21,929,102 P182L probably benign Het
Other mutations in Triml2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01534:Triml2 APN 8 43187623 missense probably benign 0.00
IGL01919:Triml2 APN 8 43190312 missense probably damaging 1.00
R0025:Triml2 UTSW 8 43185432 missense probably benign 0.00
R0058:Triml2 UTSW 8 43185269 splice site probably benign
R0058:Triml2 UTSW 8 43185269 splice site probably benign
R0180:Triml2 UTSW 8 43190309 missense probably benign 0.14
R1671:Triml2 UTSW 8 43183743 missense possibly damaging 0.88
R2143:Triml2 UTSW 8 43193511 missense probably damaging 1.00
R2210:Triml2 UTSW 8 43183360 missense probably damaging 1.00
R3156:Triml2 UTSW 8 43187679 missense probably benign 0.10
R3902:Triml2 UTSW 8 43190360 missense probably benign 0.03
R4981:Triml2 UTSW 8 43187680 missense probably benign 0.10
R6125:Triml2 UTSW 8 43187622 missense probably benign 0.02
R6478:Triml2 UTSW 8 43185128 splice site probably null
R6994:Triml2 UTSW 8 43190078 missense possibly damaging 0.57
R7037:Triml2 UTSW 8 43193536 missense probably damaging 1.00
R7113:Triml2 UTSW 8 43183333 missense probably benign 0.01
R7660:Triml2 UTSW 8 43193320 missense probably damaging 1.00
R7683:Triml2 UTSW 8 43185288 missense probably damaging 0.99
R7971:Triml2 UTSW 8 43190276 missense probably damaging 0.99
RF011:Triml2 UTSW 8 43183164 start gained probably benign
Posted On2016-08-02