Incidental Mutation 'R5334:Trim50'
ID 423400
Institutional Source Beutler Lab
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 # R5334 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 135382149-135396859 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 135396330 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 426 (T426M)
Ref Sequence ENSEMBL: ENSMUSP00000106811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000940] [ENSMUST00000065785] [ENSMUST00000111180] [ENSMUST00000170342]
AlphaFold Q810I2
Predicted Effect probably benign
Transcript: ENSMUST00000000940
SMART Domains Protein: ENSMUSP00000000940
Gene: ENSMUSG00000000916

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
low complexity region 78 90 N/A INTRINSIC
low complexity region 180 189 N/A INTRINSIC
Pfam:Nol1_Nop2_Fmu 219 423 1.1e-32 PFAM
low complexity region 448 454 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000065785
AA Change: T425M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066662
Gene: ENSMUSG00000053388
AA Change: T425M

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: T426M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106811
Gene: ENSMUSG00000053388
AA Change: T426M

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126454
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127746
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141867
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202792
Predicted Effect probably benign
Transcript: ENSMUST00000202422
Predicted Effect probably benign
Transcript: ENSMUST00000170342
SMART Domains Protein: ENSMUSP00000128370
Gene: ENSMUSG00000000916

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
low complexity region 76 91 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc15 C T 7: 101,547,810 (GRCm39) P68L probably damaging Het
Ap4s1 C T 12: 51,785,454 (GRCm39) S142L probably benign Het
Apol11a A G 15: 77,400,953 (GRCm39) T147A probably benign Het
Aqp9 T C 9: 71,030,292 (GRCm39) probably null Het
Arhgap25 T A 6: 87,440,243 (GRCm39) N468I possibly damaging Het
Arhgef2 T A 3: 88,553,636 (GRCm39) S924R probably damaging Het
Atad3a A T 4: 155,840,146 (GRCm39) L144Q probably damaging Het
Ccbe1 T C 18: 66,216,316 (GRCm39) I136V probably damaging Het
Col24a1 C A 3: 145,167,280 (GRCm39) P1119Q possibly damaging Het
Dgkd T C 1: 87,865,989 (GRCm39) probably null Het
Dnah7a A G 1: 53,542,805 (GRCm39) I2455T probably benign Het
Dock2 T C 11: 34,178,643 (GRCm39) T1795A probably benign Het
Dpp6 A T 5: 27,914,538 (GRCm39) E541V probably benign Het
Edem1 T C 6: 108,825,793 (GRCm39) probably null Het
Fbxo41 A G 6: 85,455,465 (GRCm39) V573A probably damaging Het
Fech A C 18: 64,597,191 (GRCm39) V256G probably damaging Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Gal3st4 T G 5: 138,263,983 (GRCm39) K339Q probably benign Het
Gpr158 T A 2: 21,832,316 (GRCm39) S1139T probably benign Het
Gpr180 A T 14: 118,397,468 (GRCm39) S321C probably damaging Het
Grik1 CGG CGGG 16: 87,720,082 (GRCm39) probably null Het
Grin2c T G 11: 115,146,881 (GRCm39) N438T possibly damaging Het
Hcn2 T C 10: 79,562,125 (GRCm39) S374P probably damaging Het
Hmcn1 T A 1: 150,631,123 (GRCm39) I892F probably damaging Het
Ifi207 C T 1: 173,555,097 (GRCm39) V869I probably benign Het
Itgad T C 7: 127,788,458 (GRCm39) Y390H probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kcnj15 A G 16: 95,097,508 (GRCm39) K377E probably damaging Het
Kcnq3 A G 15: 65,897,073 (GRCm39) S276P probably damaging Het
Klhl26 T C 8: 70,904,968 (GRCm39) D280G probably damaging Het
Lmnb2 C T 10: 80,739,791 (GRCm39) V376I probably benign Het
Lrrc37 T C 11: 103,504,699 (GRCm39) Q2423R probably benign Het
Mepce T A 5: 137,784,889 (GRCm39) R29S probably benign Het
Mlh3 A G 12: 85,292,535 (GRCm39) probably null Het
Mlip T A 9: 77,150,958 (GRCm39) T33S probably damaging Het
Msantd5f6 T A 4: 73,321,754 (GRCm39) M94L probably benign Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Ncapg2 T C 12: 116,390,257 (GRCm39) I402T probably damaging Het
Or2aj6 C G 16: 19,443,241 (GRCm39) G203A probably benign Het
Or5m13b T C 2: 85,754,058 (GRCm39) Y149H probably damaging Het
Pcsk5 T C 19: 17,439,215 (GRCm39) D1301G probably benign Het
Pilrb1 T C 5: 137,853,165 (GRCm39) M213V probably benign Het
Plxdc1 T C 11: 97,846,931 (GRCm39) T163A possibly damaging Het
Pnpla2 T C 7: 141,039,406 (GRCm39) L373P probably damaging Het
Prickle2 A G 6: 92,402,665 (GRCm39) Y52H probably damaging Het
Rnf220 A G 4: 117,129,548 (GRCm39) C294R probably damaging Het
Slc12a1 A G 2: 125,059,809 (GRCm39) D903G probably damaging Het
Slc34a1 T C 13: 24,003,034 (GRCm39) F228S probably damaging Het
Sptbn1 T C 11: 30,087,364 (GRCm39) E1025G possibly damaging Het
Sult1c2 T G 17: 54,271,758 (GRCm39) D143A probably damaging Het
Taar1 T G 10: 23,796,443 (GRCm39) I47R probably damaging Het
Tctn3 G T 19: 40,591,266 (GRCm39) Q514K probably benign Het
Tg T C 15: 66,549,904 (GRCm39) F222S probably damaging Het
Tmem236 C A 2: 14,223,871 (GRCm39) T220K possibly damaging Het
Vmn1r237 T C 17: 21,534,942 (GRCm39) F222L probably benign Het
Wrap73 G A 4: 154,229,731 (GRCm39) R34Q probably damaging Het
Zfp85 T C 13: 67,899,803 (GRCm39) Y52C probably damaging 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
IGL03394:Trim50 APN 5 135,392,807 (GRCm39) missense probably damaging 0.97
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
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
Predicted Primers PCR Primer
(F):5'- ATAGCACCTGTGTCCTGGCTAG -3'
(R):5'- ATACCTGTCCCAGTGTGAAGTG -3'

Sequencing Primer
(F):5'- CAAGAGTGACTGGCGCTTG -3'
(R):5'- TCCCAGTGTGAAGTGCCCAG -3'
Posted On 2016-08-04