Incidental Mutation 'IGL01768:Trim50'
ID154001
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trim50
Ensembl Gene ENSMUSG00000053388
Gene Nametripartite motif-containing 50
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01768
Quality Score
Status
Chromosome5
Chromosomal Location135353295-135368005 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 135363882 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Valine at position 217 (G217V)
Ref Sequence ENSEMBL: ENSMUSP00000106811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065785] [ENSMUST00000111180]
Predicted Effect possibly damaging
Transcript: ENSMUST00000065785
AA Change: G217V

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000066662
Gene: ENSMUSG00000053388
AA Change: G217V

DomainStartEndE-ValueType
RING 16 56 7.92e-8 SMART
BBOX 84 125 3.34e-6 SMART
coiled coil region 128 163 N/A INTRINSIC
coiled coil region 206 235 N/A INTRINSIC
PRY 292 344 1.07e-13 SMART
SPRY 345 473 7.48e-19 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000111180
AA Change: G217V

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000106811
Gene: ENSMUSG00000053388
AA Change: G217V

DomainStartEndE-ValueType
RING 16 56 7.92e-8 SMART
BBOX 84 125 3.34e-6 SMART
coiled coil region 128 163 N/A INTRINSIC
coiled coil region 206 235 N/A INTRINSIC
PRY 293 345 1.07e-13 SMART
SPRY 346 474 7.48e-19 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired secretion of gastric acid with impaired stimulated tubulovesicular dynamics. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931417E11Rik A T 6: 73,468,916 L217M possibly damaging Het
Aifm3 T C 16: 17,506,277 V567A possibly damaging Het
Arnt T C 3: 95,491,016 probably benign Het
C8b G A 4: 104,786,954 E273K probably benign Het
Capn5 C T 7: 98,125,273 R570H probably damaging Het
Ccdc173 A T 2: 69,782,127 probably benign Het
Cdh9 A T 15: 16,778,225 D42V possibly damaging Het
Cdk17 T C 10: 93,208,261 S21P probably damaging Het
Cdkl3 T A 11: 52,025,917 F291I probably damaging Het
Clmn T C 12: 104,781,719 E523G probably damaging Het
Cyp4f14 A T 17: 32,908,002 I318N probably damaging Het
Daam1 T A 12: 71,989,885 F1068L probably benign Het
Ext2 A G 2: 93,791,110 probably benign Het
F5 T A 1: 164,176,345 F236L probably benign Het
Fat2 A G 11: 55,262,568 V3606A probably damaging Het
Gpam G A 19: 55,087,520 T220M probably benign Het
Hyal1 C A 9: 107,579,139 L342I probably damaging Het
Ilvbl C A 10: 78,583,293 P459T possibly damaging Het
Itga5 A G 15: 103,351,570 Y632H probably benign Het
Krt73 T C 15: 101,798,856 D299G probably benign Het
Lcp1 T C 14: 75,224,133 V522A probably benign Het
Lmo3 A G 6: 138,416,497 C53R probably damaging Het
Nsun7 T C 5: 66,278,700 V305A probably benign Het
Olfr1391 G A 11: 49,328,131 C240Y probably damaging Het
Olfr1427 A T 19: 12,099,039 I200N probably damaging Het
Olfr859 G A 9: 19,809,160 V281M possibly damaging Het
Oprm1 T C 10: 6,829,186 S196P probably damaging Het
Ovgp1 T C 3: 105,981,351 probably null Het
Pcdhb20 T C 18: 37,506,715 F765L possibly damaging Het
Ppp4r4 T C 12: 103,581,405 V3A probably benign Het
Ruvbl1 A G 6: 88,497,271 I419V probably benign Het
Scara5 T A 14: 65,689,775 C40* probably null Het
Siglec1 T C 2: 131,074,394 Q1212R probably benign Het
Slc31a1 G A 4: 62,388,036 probably null Het
Sparc G T 11: 55,405,243 N87K probably damaging Het
Tcf12 T C 9: 71,868,996 probably null Het
Timm44 A T 8: 4,266,860 F258I probably benign Het
Tm2d2 G T 8: 25,018,079 V80L possibly damaging Het
Tpr A G 1: 150,444,448 D2249G possibly damaging Het
Ugcg T C 4: 59,217,216 probably null Het
Vmn2r107 A T 17: 20,345,606 H61L probably benign Het
Zfp84 A G 7: 29,776,666 H261R probably benign Het
Zswim2 A T 2: 83,917,957 M293K probably benign Het
Other mutations in Trim50
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01357:Trim50 APN 5 135363954 missense probably damaging 0.99
IGL01565:Trim50 APN 5 135367501 missense probably benign 0.05
IGL03394:Trim50 APN 5 135363953 missense probably damaging 0.97
R0137:Trim50 UTSW 5 135366633 missense probably damaging 1.00
R0694:Trim50 UTSW 5 135353545 missense probably benign
R1797:Trim50 UTSW 5 135353501 missense possibly damaging 0.96
R1806:Trim50 UTSW 5 135358889 missense probably benign 0.00
R4688:Trim50 UTSW 5 135367140 missense probably damaging 1.00
R5034:Trim50 UTSW 5 135367293 missense possibly damaging 0.59
R5334:Trim50 UTSW 5 135367476 missense probably damaging 1.00
R5336:Trim50 UTSW 5 135367476 missense probably damaging 1.00
R5337:Trim50 UTSW 5 135367476 missense probably damaging 1.00
R5689:Trim50 UTSW 5 135353662 missense probably damaging 0.98
R6119:Trim50 UTSW 5 135353420 missense probably benign
R6377:Trim50 UTSW 5 135353600 missense probably benign 0.01
Posted On2014-02-04