Incidental Mutation 'R8242:Timm50'
ID 637604
Institutional Source Beutler Lab
Gene Symbol Timm50
Ensembl Gene ENSMUSG00000003438
Gene Name translocase of inner mitochondrial membrane 50
Synonyms TIM50L, 2810403L02Rik
MMRRC Submission 067647-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8242 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 28004941-28011497 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 28007836 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 105 (D105E)
Ref Sequence ENSEMBL: ENSMUSP00000080614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081946]
AlphaFold Q9D880
Predicted Effect probably benign
Transcript: ENSMUST00000081946
AA Change: D105E

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000080614
Gene: ENSMUSG00000003438
AA Change: D105E

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
transmembrane domain 66 88 N/A INTRINSIC
CPDc 146 274 1.33e-41 SMART
low complexity region 313 330 N/A INTRINSIC
Meta Mutation Damage Score 0.0843 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.2%
  • 20x: 98.2%
Validation Efficiency 98% (42/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the TIM23 inner mitochondrial membrane translocase complex. The encoded protein functions as the receptor subunit that recognizes the mitochondrial targeting signal, or presequence, on protein cargo that is destined for the mitochondrial inner membrane and matrix. This protein may also play a role in maintaining the membrane permeability barrier, and knockdown of this gene in human cells results in the release of cytochrome c and apoptosis. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 T C 1: 165,374,118 (GRCm39) Y736H possibly damaging Het
Akr1c12 G A 13: 4,322,269 (GRCm39) R258* probably null Het
Ankfn1 C G 11: 89,417,271 (GRCm39) probably null Het
Arfgef3 T C 10: 18,505,824 (GRCm39) K947E probably benign Het
Barx2 C A 9: 31,824,227 (GRCm39) R54L probably damaging Het
BC030500 T C 8: 59,365,388 (GRCm39) I13T unknown Het
Bcl11a T A 11: 24,113,208 (GRCm39) F184I probably benign Het
Cfap251 T A 5: 123,411,914 (GRCm39) D515E possibly damaging Het
Cfap43 A G 19: 47,885,808 (GRCm39) L269P probably damaging Het
Col8a1 G T 16: 57,452,721 (GRCm39) P94Q possibly damaging Het
Coq5 T C 5: 115,417,806 (GRCm39) V12A probably benign Het
Csmd1 A G 8: 16,760,670 (GRCm39) V155A probably benign Het
Defb22 A C 2: 152,328,007 (GRCm39) C59W probably damaging Het
Dsg3 A G 18: 20,669,980 (GRCm39) T665A possibly damaging Het
Gm10542 A G 18: 44,337,708 (GRCm39) D62G possibly damaging Het
Gm45861 G A 8: 28,038,821 (GRCm39) S987N unknown Het
Gm5591 T A 7: 38,219,746 (GRCm39) T376S probably benign Het
Hps3 C T 3: 20,068,290 (GRCm39) R588H possibly damaging Het
Itpr1 A T 6: 108,363,658 (GRCm39) D760V probably benign Het
Mfsd8 G A 3: 40,789,628 (GRCm39) R140C probably damaging Het
Mroh2b A T 15: 4,938,522 (GRCm39) R270S probably benign Het
Mroh4 G T 15: 74,488,157 (GRCm39) H350N possibly damaging Het
Nsd3 G T 8: 26,196,567 (GRCm39) E1183* probably null Het
Or13a19 T A 7: 139,902,696 (GRCm39) L28* probably null Het
Or4p7 A G 2: 88,222,418 (GRCm39) I276V possibly damaging Het
Or51f23b T C 7: 102,402,306 (GRCm39) M277V probably benign Het
Or8k53 A T 2: 86,177,426 (GRCm39) M228K probably damaging Het
Pex5l T A 3: 33,060,184 (GRCm39) T196S probably benign Het
Phlpp2 T C 8: 110,666,834 (GRCm39) V1121A probably benign Het
Rab3gap2 T A 1: 184,954,050 (GRCm39) S41T probably benign Het
Rad51c A T 11: 87,280,712 (GRCm39) N293K probably damaging Het
Rgs3 C A 4: 62,538,022 (GRCm39) Q18K probably benign Het
Ripk2 C T 4: 16,124,430 (GRCm39) G426D probably benign Het
Rpl22l1 T C 3: 28,860,914 (GRCm39) V44A possibly damaging Het
Sntb1 C T 15: 55,655,629 (GRCm39) A196T possibly damaging Het
Sorcs3 C T 19: 48,194,913 (GRCm39) R99W possibly damaging Het
Tdrd6 T C 17: 43,939,821 (GRCm39) E409G probably damaging Het
Tsga10 A T 1: 37,846,182 (GRCm39) S315T probably benign Het
Ttpa G A 4: 20,028,511 (GRCm39) C256Y probably damaging Het
Vinac1 G T 2: 128,881,313 (GRCm39) C204* probably null Het
Vmn2r13 T C 5: 109,322,872 (GRCm39) Y139C possibly damaging Het
Washc5 A G 15: 59,215,971 (GRCm39) S803P probably damaging Het
Zfp985 A C 4: 147,668,639 (GRCm39) K502N possibly damaging Het
Other mutations in Timm50
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0402:Timm50 UTSW 7 28,006,280 (GRCm39) missense probably damaging 1.00
R0709:Timm50 UTSW 7 28,006,366 (GRCm39) missense probably damaging 1.00
R3881:Timm50 UTSW 7 28,010,432 (GRCm39) missense probably benign
R4604:Timm50 UTSW 7 28,010,443 (GRCm39) missense probably benign
R4947:Timm50 UTSW 7 28,009,469 (GRCm39) unclassified probably benign
R5010:Timm50 UTSW 7 28,006,284 (GRCm39) missense probably benign 0.07
R5359:Timm50 UTSW 7 28,007,592 (GRCm39) missense probably damaging 1.00
R6866:Timm50 UTSW 7 28,005,370 (GRCm39) missense probably damaging 1.00
R8033:Timm50 UTSW 7 28,006,258 (GRCm39) missense possibly damaging 0.50
R9562:Timm50 UTSW 7 28,007,069 (GRCm39) missense possibly damaging 0.69
R9565:Timm50 UTSW 7 28,007,069 (GRCm39) missense possibly damaging 0.69
R9697:Timm50 UTSW 7 28,010,350 (GRCm39) missense probably damaging 1.00
Z1177:Timm50 UTSW 7 28,006,993 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACCAGTGTATAAGGTGGCTGG -3'
(R):5'- CCTCCATGAAAGTAGGCATGC -3'

Sequencing Primer
(F):5'- TAGTAGGGCTCCCGCAGAG -3'
(R):5'- GGCATGCTTTTATTTAATCCTAACAC -3'
Posted On 2020-07-13