Incidental Mutation 'IGL02023:Timm23'
ID 184064
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Timm23
Ensembl Gene ENSMUSG00000013701
Gene Name translocase of inner mitochondrial membrane 23
Synonyms Tim23
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02023
Quality Score
Status
Chromosome 14
Chromosomal Location 31902123-31923848 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 31915804 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013845] [ENSMUST00000163379] [ENSMUST00000170331] [ENSMUST00000226683]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000013845
SMART Domains Protein: ENSMUSP00000013845
Gene: ENSMUSG00000013701

DomainStartEndE-ValueType
low complexity region 3 25 N/A INTRINSIC
Pfam:Tim17 76 196 6.6e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104423
Predicted Effect probably benign
Transcript: ENSMUST00000163379
SMART Domains Protein: ENSMUSP00000129688
Gene: ENSMUSG00000013701

DomainStartEndE-ValueType
low complexity region 3 25 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168139
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168813
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170233
Predicted Effect probably benign
Transcript: ENSMUST00000170331
SMART Domains Protein: ENSMUSP00000126977
Gene: ENSMUSG00000013701

DomainStartEndE-ValueType
low complexity region 3 25 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172052
Predicted Effect probably benign
Transcript: ENSMUST00000226683
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of a complex located in the inner mitochondrial membrane that mediates the transport of transit peptide-containing proteins across the membrane. Multiple transcript variants, one protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a gene trapped allele die prior to E3.5. Mice heterogygous for this allele exhibit background sensitive premature aging and increased mortality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 109,953,942 (GRCm39) K833E probably benign Het
Adam29 T C 8: 56,325,519 (GRCm39) I312V probably benign Het
Adcy8 T A 15: 64,694,069 (GRCm39) I403F probably damaging Het
Ahcyl1 A T 3: 107,575,010 (GRCm39) N444K probably damaging Het
Ang4 T C 14: 52,001,511 (GRCm39) probably benign Het
Atf6b T C 17: 34,870,841 (GRCm39) V401A possibly damaging Het
Atp7a A T X: 105,138,588 (GRCm39) I604F probably damaging Het
Cd151 T C 7: 141,050,370 (GRCm39) Y202H probably damaging Het
Cd99l2 A T X: 70,493,552 (GRCm39) N64K possibly damaging Het
Cog7 C T 7: 121,543,000 (GRCm39) probably null Het
Decr2 A T 17: 26,306,354 (GRCm39) M94K probably benign Het
Dock11 A T X: 35,232,422 (GRCm39) H188L probably benign Het
Dscam T C 16: 96,602,397 (GRCm39) S682G probably benign Het
Efcab3 A T 11: 104,612,258 (GRCm39) probably benign Het
Gja3 G T 14: 57,273,136 (GRCm39) P412Q probably damaging Het
Glrb T C 3: 80,758,262 (GRCm39) N333D probably benign Het
Gpr65 T A 12: 98,242,127 (GRCm39) V260D probably benign Het
Hormad1 A G 3: 95,485,604 (GRCm39) E264G possibly damaging Het
Hsph1 T C 5: 149,557,324 (GRCm39) R46G probably damaging Het
Hycc2 G A 1: 58,569,274 (GRCm39) A435V possibly damaging Het
Iars1 A G 13: 49,841,725 (GRCm39) Y71C probably damaging Het
Lsg1 T C 16: 30,404,494 (GRCm39) H35R probably damaging Het
Mfge8 C T 7: 78,794,985 (GRCm39) probably benign Het
Mgat4c T A 10: 102,214,045 (GRCm39) Y9* probably null Het
Mpdz A T 4: 81,247,766 (GRCm39) I1074N probably damaging Het
Muc19 T C 15: 91,772,453 (GRCm39) noncoding transcript Het
Nbea A T 3: 55,588,437 (GRCm39) M2434K probably damaging Het
Ncoa2 A G 1: 13,245,078 (GRCm39) L540P probably damaging Het
Nhsl2 A G X: 101,121,858 (GRCm39) R554G probably damaging Het
Npdc1 T A 2: 25,298,032 (GRCm39) probably benign Het
Or2aj6 A T 16: 19,443,158 (GRCm39) S231T probably benign Het
Osbpl10 T A 9: 115,055,790 (GRCm39) V654D probably damaging Het
Plxna1 C A 6: 89,334,314 (GRCm39) G105V possibly damaging Het
Pnma8b T C 7: 16,679,616 (GRCm39) V200A probably damaging Het
Ppard A G 17: 28,517,871 (GRCm39) H313R probably benign Het
Rasgrp4 T C 7: 28,838,335 (GRCm39) L103P probably damaging Het
Rigi A G 4: 40,216,487 (GRCm39) Y504H possibly damaging Het
Ripk4 A T 16: 97,556,431 (GRCm39) L104Q probably damaging Het
Setd2 T C 9: 110,423,704 (GRCm39) V2253A probably benign Het
Setdb2 A G 14: 59,668,607 (GRCm39) S43P probably damaging Het
Stab2 C A 10: 86,707,695 (GRCm39) G1742V possibly damaging Het
Ttn T C 2: 76,615,999 (GRCm39) N14902S possibly damaging Het
Ush2a A G 1: 188,465,711 (GRCm39) T2760A probably benign Het
Vmn2r25 T C 6: 123,816,388 (GRCm39) N398D probably damaging Het
Other mutations in Timm23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00984:Timm23 APN 14 31,902,612 (GRCm39) missense probably benign 0.34
R0666:Timm23 UTSW 14 31,920,993 (GRCm39) splice site probably benign
R2214:Timm23 UTSW 14 31,920,944 (GRCm39) missense probably damaging 0.98
R5132:Timm23 UTSW 14 31,915,902 (GRCm39) missense probably damaging 1.00
R5161:Timm23 UTSW 14 31,915,882 (GRCm39) missense probably damaging 1.00
R5427:Timm23 UTSW 14 31,911,103 (GRCm39) missense possibly damaging 0.95
R6518:Timm23 UTSW 14 31,923,594 (GRCm39) splice site probably null
R7659:Timm23 UTSW 14 31,920,935 (GRCm39) nonsense probably null
R7692:Timm23 UTSW 14 31,902,520 (GRCm39) missense probably damaging 1.00
R9484:Timm23 UTSW 14 31,902,586 (GRCm39) missense probably benign 0.00
R9609:Timm23 UTSW 14 31,902,543 (GRCm39) missense probably benign 0.21
RF024:Timm23 UTSW 14 31,902,512 (GRCm39) makesense probably null
Posted On 2014-05-07