Incidental Mutation 'IGL00467:Trim60'
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ID5034
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trim60
Ensembl Gene ENSMUSG00000053490
Gene Nametripartite motif-containing 60
SynonymsRnf33, 2czf45
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #IGL00467
Quality Score
Status
Chromosome8
Chromosomal Location64999307-65018584 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 65000719 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 293 (T293A)
Ref Sequence ENSEMBL: ENSMUSP00000040299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048565]
Predicted Effect possibly damaging
Transcript: ENSMUST00000048565
AA Change: T293A

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000040299
Gene: ENSMUSG00000053490
AA Change: T293A

DomainStartEndE-ValueType
RING 15 55 1.48e-7 SMART
low complexity region 81 90 N/A INTRINSIC
BBOX 91 132 3.12e-6 SMART
PRY 289 341 4.11e-15 SMART
Pfam:SPRY 344 459 2e-14 PFAM
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 contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. Pseudogenes of this gene are located on more than six chromosomes including chromosome 4. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2013]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,145,670 probably benign Het
Acvrl1 C A 15: 101,143,340 probably null Het
Ahnak T A 19: 9,007,223 M1957K probably damaging Het
Brinp3 A G 1: 146,901,774 D653G probably damaging Het
Dcstamp T A 15: 39,754,416 C74S probably benign Het
Esrrg A G 1: 188,210,910 E360G probably damaging Het
Fam13a C T 6: 58,940,113 probably benign Het
Fam208a A G 14: 27,448,164 N350S probably benign Het
Glipr1l1 A G 10: 112,078,381 T216A probably benign Het
Lama2 T A 10: 27,467,197 probably benign Het
Men1 G A 19: 6,337,207 probably null Het
Mta3 T A 17: 83,755,684 probably benign Het
Nfu1 A G 6: 87,020,773 M213V possibly damaging Het
Pam A T 1: 97,924,427 probably benign Het
Pcca A T 14: 122,582,629 M62L probably benign Het
Phf6 A G X: 52,931,646 Y25C probably damaging Het
Phlpp2 C T 8: 109,925,790 H589Y probably benign Het
Ppp1r13b A G 12: 111,829,370 I956T probably damaging Het
Prkcd G A 14: 30,602,422 probably benign Het
Rapgef4 A T 2: 72,256,312 N973I possibly damaging Het
Rnf20 G T 4: 49,655,480 E905* probably null Het
Slc26a6 T A 9: 108,855,889 D22E probably benign Het
Sp2 C T 11: 96,954,561 R578H probably damaging Het
Taf6l A T 19: 8,783,388 N57K probably benign Het
Tas2r109 C A 6: 132,980,023 V315L probably benign Het
Tex9 T C 9: 72,477,835 T240A probably benign Het
Trank1 G A 9: 111,364,666 probably benign Het
Trim30c A T 7: 104,382,182 Y475* probably null Het
Ttc21b T C 2: 66,188,364 Y1233C probably damaging Het
Wdr75 A G 1: 45,802,075 I106V probably benign Het
Zkscan16 T C 4: 58,957,709 S664P possibly damaging Het
Other mutations in Trim60
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03145:Trim60 APN 8 65000572 missense probably damaging 0.99
R0054:Trim60 UTSW 8 65001321 missense probably benign 0.05
R0054:Trim60 UTSW 8 65001321 missense probably benign 0.05
R0080:Trim60 UTSW 8 65000599 missense probably damaging 1.00
R0244:Trim60 UTSW 8 65001048 missense probably benign 0.07
R0348:Trim60 UTSW 8 65001216 missense probably damaging 1.00
R1104:Trim60 UTSW 8 65001419 missense probably benign 0.04
R1615:Trim60 UTSW 8 65000510 nonsense probably null
R1667:Trim60 UTSW 8 65001464 missense probably benign 0.00
R1944:Trim60 UTSW 8 65001312 missense possibly damaging 0.95
R2009:Trim60 UTSW 8 65001323 missense probably damaging 0.99
R4093:Trim60 UTSW 8 65001378 missense probably benign 0.05
R4400:Trim60 UTSW 8 65001212 nonsense probably null
R5171:Trim60 UTSW 8 65000524 missense probably benign 0.05
R5898:Trim60 UTSW 8 65000364 nonsense probably null
R6586:Trim60 UTSW 8 65000596 missense possibly damaging 0.61
R7012:Trim60 UTSW 8 65000391 missense possibly damaging 0.93
R7092:Trim60 UTSW 8 65001048 missense probably benign 0.07
R7274:Trim60 UTSW 8 65000481 missense possibly damaging 0.76
R7567:Trim60 UTSW 8 65001525 missense probably damaging 0.97
R7761:Trim60 UTSW 8 65001312 missense possibly damaging 0.95
Posted On2012-04-20