Incidental Mutation 'R5359:Timm50'
ID 424239
Institutional Source Beutler Lab
Gene Symbol Timm50
Ensembl Gene ENSMUSG00000003438
Gene Name translocase of inner mitochondrial membrane 50
Synonyms TIM50L, 2810403L02Rik
MMRRC Submission 042938-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5359 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 28004941-28011497 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 28007592 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 158 (L158P)
Ref Sequence ENSEMBL: ENSMUSP00000080614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081946]
AlphaFold Q9D880
Predicted Effect probably damaging
Transcript: ENSMUST00000081946
AA Change: L158P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080614
Gene: ENSMUSG00000003438
AA Change: L158P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131849
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134263
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135220
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136427
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151990
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap5b1 T A 19: 5,619,126 (GRCm39) I182N possibly damaging Het
Arap2 A T 5: 62,840,762 (GRCm39) C701* probably null Het
Bcr T A 10: 75,001,917 (GRCm39) F940L probably damaging Het
Cav2 A T 6: 17,287,064 (GRCm39) probably benign Het
Cdk2 T C 10: 128,539,857 (GRCm39) probably benign Het
Clic4 G A 4: 134,944,446 (GRCm39) A243V probably benign Het
Dap3 A T 3: 88,838,296 (GRCm39) V99D probably damaging Het
Dennd5a T C 7: 109,497,169 (GRCm39) E1110G probably damaging Het
Dhx30 T C 9: 109,922,203 (GRCm39) N160D probably damaging Het
Dnai7 T G 6: 145,142,618 (GRCm39) T120P probably damaging Het
Dock9 A G 14: 121,890,472 (GRCm39) M268T possibly damaging Het
Dspp T A 5: 104,323,752 (GRCm39) D298E probably damaging Het
Elane A G 10: 79,722,870 (GRCm39) E92G probably damaging Het
Erp44 A T 4: 48,211,704 (GRCm39) D197E probably benign Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Gbf1 T C 19: 46,272,164 (GRCm39) probably null Het
Gm1968 A T 16: 29,777,617 (GRCm39) noncoding transcript Het
Hydin T A 8: 111,265,004 (GRCm39) V2729E probably benign Het
Insyn2b G A 11: 34,352,788 (GRCm39) E277K probably damaging Het
Iqgap1 T C 7: 80,416,707 (GRCm39) T106A probably benign Het
Kcnj6 G C 16: 94,633,312 (GRCm39) Y248* probably null Het
Mllt3 A G 4: 87,759,164 (GRCm39) S295P probably benign Het
Or2w1b A C 13: 21,300,437 (GRCm39) T192P probably damaging Het
Pex11b G A 3: 96,551,229 (GRCm39) C224Y probably damaging Het
Pik3c2g A G 6: 139,599,121 (GRCm39) Y79C probably damaging Het
Plcz1 T C 6: 139,974,178 (GRCm39) Y88C probably damaging Het
Pole A G 5: 110,480,354 (GRCm39) N99S probably benign Het
Pyroxd1 T G 6: 142,307,717 (GRCm39) Y496D probably damaging Het
Rasef A G 4: 73,689,565 (GRCm39) L68P probably damaging Het
Rgs13 T A 1: 144,015,322 (GRCm39) M132L probably damaging Het
RP24-187P11.4 T G 9: 109,349,944 (GRCm39) noncoding transcript Het
Rsph4a A G 10: 33,784,232 (GRCm39) T285A probably benign Het
Ryr3 A T 2: 112,606,186 (GRCm39) probably null Het
Slc30a1 T A 1: 191,641,865 (GRCm39) *504R probably null Het
Spcs1 T C 14: 30,722,074 (GRCm39) R156G probably damaging Het
Supv3l1 A G 10: 62,268,178 (GRCm39) F556L probably damaging Het
Thumpd2 C T 17: 81,334,206 (GRCm39) V461M probably benign Het
Tnrc6c T C 11: 117,649,731 (GRCm39) silent Het
Ttn G A 2: 76,726,147 (GRCm39) Q1807* probably null Het
Zdhhc14 A G 17: 5,543,821 (GRCm39) I34V probably benign Het
Zgrf1 T A 3: 127,394,814 (GRCm39) M506K 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
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
R8242:Timm50 UTSW 7 28,007,836 (GRCm39) missense probably benign 0.06
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'- CATGTGGTACAACAACTCTAAGC -3'
(R):5'- GCGCCGGACATACAAATACTTC -3'

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