Incidental Mutation 'IGL01919:Triml2'
ID180054
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: 0.116) question?
Stock #IGL01919
Quality Score
Status
Chromosome8
Chromosomal Location43180541-43193881 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 43190312 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Proline at position 177 (T177P)
Ref Sequence ENSEMBL: ENSMUSP00000148027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163869] [ENSMUST00000209200] [ENSMUST00000209872] [ENSMUST00000210136]
Predicted Effect probably damaging
Transcript: ENSMUST00000163869
AA Change: T224P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132971
Gene: ENSMUSG00000091490
AA Change: T224P

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 damaging
Transcript: ENSMUST00000209200
AA Change: T224P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000209872
AA Change: T177P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000210136
AA Change: T224P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211228
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik A G 18: 24,475,523 probably null Het
Alms1 T C 6: 85,628,004 F2212S possibly damaging Het
Anpep T C 7: 79,825,350 I155V possibly damaging Het
Aoc1 G A 6: 48,908,289 V653M probably damaging Het
Arl8b T C 6: 108,821,557 probably benign Het
Bax A C 7: 45,466,128 probably null Het
Cpne7 G A 8: 123,125,643 E195K probably damaging Het
Csmd3 A G 15: 47,675,772 I2330T possibly damaging Het
Dnajc16 A G 4: 141,774,629 S297P probably benign Het
Farp2 A G 1: 93,576,433 K311E probably damaging Het
Fhad1 A G 4: 141,964,595 L410P probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm12185 T C 11: 48,908,059 T536A possibly damaging Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Hydin C T 8: 110,519,174 T2173I possibly damaging Het
Kpnb1 A G 11: 97,164,730 V783A probably benign Het
Krt1 A G 15: 101,846,376 V509A unknown Het
Lrwd1 A T 5: 136,135,875 L26* probably null Het
Mal2 T A 15: 54,588,332 W50R probably damaging Het
Map3k21 A T 8: 125,942,132 E819V probably damaging Het
Mrgprx3-ps T C 7: 47,310,211 T11A probably benign Het
Mroh2b T C 15: 4,923,688 F635L probably benign Het
Mylip G A 13: 45,408,702 E327K probably damaging Het
Nfix T C 8: 84,726,474 D308G probably damaging Het
Olfr355 G A 2: 36,927,812 Q101* probably null Het
Olfr857 G A 9: 19,713,342 V172I probably benign Het
Psma6 A G 12: 55,407,469 E26G probably damaging Het
Rgs16 T A 1: 153,742,058 S105T probably damaging Het
Slc25a23 T A 17: 57,047,291 N372Y possibly damaging Het
Slc35e2 A G 4: 155,612,730 M234V probably benign Het
Tbc1d8 A G 1: 39,392,253 V346A probably damaging Het
Tgfb1i1 C T 7: 128,248,482 probably benign Het
Uba6 T C 5: 86,119,386 T959A probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Other mutations in Triml2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01534:Triml2 APN 8 43187623 missense probably benign 0.00
IGL03382:Triml2 APN 8 43193739 missense probably benign 0.00
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 unclassified probably null
Posted On2014-05-07