Incidental Mutation 'IGL03394:Trim50'
ID 421182
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trim50
Ensembl Gene ENSMUSG00000053388
Gene Name tripartite motif-containing 50
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03394
Quality Score
Status
Chromosome 5
Chromosomal Location 135382149-135396859 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 135392807 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 241 (I241F)
Ref Sequence ENSEMBL: ENSMUSP00000106811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065785] [ENSMUST00000111180]
AlphaFold Q810I2
Predicted Effect probably damaging
Transcript: ENSMUST00000065785
AA Change: I241F

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000066662
Gene: ENSMUSG00000053388
AA Change: I241F

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 probably damaging
Transcript: ENSMUST00000111180
AA Change: I241F

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106811
Gene: ENSMUSG00000053388
AA Change: I241F

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A G 17: 46,635,277 (GRCm39) L242P probably damaging Het
Adam22 T C 5: 8,217,379 (GRCm39) I139V probably benign Het
Ahr G T 12: 35,553,751 (GRCm39) Y789* probably null Het
Ankrd27 C A 7: 35,306,523 (GRCm39) probably null Het
Ano1 T C 7: 144,149,176 (GRCm39) probably null Het
Ap4e1 T A 2: 126,905,317 (GRCm39) M996K probably benign Het
Bglap T C 3: 88,291,312 (GRCm39) K42E probably benign Het
Ccdc30 A T 4: 119,216,779 (GRCm39) S220R probably damaging Het
Clic5 A G 17: 44,548,105 (GRCm39) N50S probably benign Het
Csnk2a1-ps3 A T 1: 156,352,792 (GRCm39) Q331L probably benign Het
Cyp20a1 T G 1: 60,405,840 (GRCm39) D211E probably damaging Het
Dctn1 G A 6: 83,168,266 (GRCm39) V408I possibly damaging Het
Exoc6 T C 19: 37,588,020 (GRCm39) I551T probably benign Het
Fat4 C T 3: 38,946,168 (GRCm39) T1687M probably damaging Het
Fat4 T A 3: 39,063,513 (GRCm39) C4490S probably damaging Het
Fras1 T A 5: 96,815,336 (GRCm39) I1351N probably damaging Het
Igkv2-116 T C 6: 68,129,327 (GRCm39) noncoding transcript Het
Iws1 T G 18: 32,221,301 (GRCm39) probably benign Het
Mlh1 A T 9: 111,097,311 (GRCm39) I61N probably damaging Het
Mtmr7 C T 8: 41,061,972 (GRCm39) V38M probably damaging Het
Myh7 G T 14: 55,212,818 (GRCm39) A1409D probably damaging Het
Myt1 A T 2: 181,439,638 (GRCm39) I387F probably damaging Het
Nars2 A G 7: 96,689,220 (GRCm39) N381D possibly damaging Het
Nsd3 T C 8: 26,165,765 (GRCm39) probably benign Het
Nup107 A G 10: 117,617,933 (GRCm39) S162P probably damaging Het
Oog2 T C 4: 143,920,576 (GRCm39) F3S probably benign Het
Or8b1b A G 9: 38,375,517 (GRCm39) Y60C probably damaging Het
Oxgr1 T C 14: 120,260,022 (GRCm39) M62V possibly damaging Het
Pcgf1 A G 6: 83,056,121 (GRCm39) Y75C probably damaging Het
Ppp3cc C A 14: 70,462,477 (GRCm39) E396* probably null Het
Ptx4 T A 17: 25,343,649 (GRCm39) C300S probably damaging Het
Rassf4 C T 6: 116,618,708 (GRCm39) V192I probably damaging Het
Rundc3b T C 5: 8,598,261 (GRCm39) T203A possibly damaging Het
Serpinb3c T C 1: 107,199,603 (GRCm39) D306G probably benign Het
Sipa1l2 T C 8: 126,218,398 (GRCm39) E313G possibly damaging Het
Snx5 G A 2: 144,095,674 (GRCm39) A329V probably damaging Het
Stx1b T C 7: 127,407,056 (GRCm39) D213G probably damaging Het
Tpd52l2 G A 2: 181,156,879 (GRCm39) V172I probably benign Het
Ttn G A 2: 76,580,760 (GRCm39) H23378Y probably benign Het
Vmn1r193 T A 13: 22,403,939 (GRCm39) M18L probably benign Het
Vmn1r226 A G 17: 20,908,446 (GRCm39) N226S probably benign Het
Vmn2r14 T A 5: 109,367,702 (GRCm39) Q430L probably null Het
Xirp2 T A 2: 67,345,538 (GRCm39) V2593D probably damaging Het
Zfp169 A T 13: 48,643,400 (GRCm39) F576I possibly damaging Het
Zfp667 T C 7: 6,292,438 (GRCm39) probably null Het
Zzef1 A G 11: 72,777,601 (GRCm39) probably null Het
Other mutations in Trim50
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01357:Trim50 APN 5 135,392,808 (GRCm39) missense probably damaging 0.99
IGL01565:Trim50 APN 5 135,396,355 (GRCm39) missense probably benign 0.05
IGL01768:Trim50 APN 5 135,392,736 (GRCm39) missense possibly damaging 0.77
BB004:Trim50 UTSW 5 135,382,465 (GRCm39) missense probably benign
BB014:Trim50 UTSW 5 135,382,465 (GRCm39) missense probably benign
PIT4498001:Trim50 UTSW 5 135,382,331 (GRCm39) missense probably damaging 1.00
R0137:Trim50 UTSW 5 135,395,487 (GRCm39) missense probably damaging 1.00
R0694:Trim50 UTSW 5 135,382,399 (GRCm39) missense probably benign
R1797:Trim50 UTSW 5 135,382,355 (GRCm39) missense possibly damaging 0.96
R1806:Trim50 UTSW 5 135,387,743 (GRCm39) missense probably benign 0.00
R4688:Trim50 UTSW 5 135,395,994 (GRCm39) missense probably damaging 1.00
R5034:Trim50 UTSW 5 135,396,147 (GRCm39) missense possibly damaging 0.59
R5334:Trim50 UTSW 5 135,396,330 (GRCm39) missense probably damaging 1.00
R5336:Trim50 UTSW 5 135,396,330 (GRCm39) missense probably damaging 1.00
R5337:Trim50 UTSW 5 135,396,330 (GRCm39) missense probably damaging 1.00
R5689:Trim50 UTSW 5 135,382,516 (GRCm39) missense probably damaging 0.98
R6119:Trim50 UTSW 5 135,382,274 (GRCm39) missense probably benign
R6377:Trim50 UTSW 5 135,382,454 (GRCm39) missense probably benign 0.01
R7170:Trim50 UTSW 5 135,396,365 (GRCm39) missense probably benign
R7175:Trim50 UTSW 5 135,382,151 (GRCm39) start codon destroyed probably null 0.81
R7498:Trim50 UTSW 5 135,392,768 (GRCm39) missense probably benign 0.01
R7927:Trim50 UTSW 5 135,382,465 (GRCm39) missense probably benign
R7945:Trim50 UTSW 5 135,382,156 (GRCm39) missense probably benign
R8403:Trim50 UTSW 5 135,392,646 (GRCm39) missense probably damaging 1.00
R9117:Trim50 UTSW 5 135,382,537 (GRCm39) missense possibly damaging 0.67
R9648:Trim50 UTSW 5 135,395,475 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02