Incidental Mutation 'R9484:Timm23'
ID 716480
Institutional Source Beutler Lab
Gene Symbol Timm23
Ensembl Gene ENSMUSG00000013701
Gene Name translocase of inner mitochondrial membrane 23
Synonyms Tim23
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9484 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 32180162-32201898 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32180629 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 186 (T186A)
Ref Sequence ENSEMBL: ENSMUSP00000013845 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013845] [ENSMUST00000111994] [ENSMUST00000163336] [ENSMUST00000163379] [ENSMUST00000168334] [ENSMUST00000168385] [ENSMUST00000169722] [ENSMUST00000170331] [ENSMUST00000226683]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000013845
AA Change: T186A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000013845
Gene: ENSMUSG00000013701
AA Change: T186A

low complexity region 3 25 N/A INTRINSIC
Pfam:Tim17 76 196 6.6e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111994
SMART Domains Protein: ENSMUSP00000107625
Gene: ENSMUSG00000056234

Pfam:ARA70 37 168 5e-44 PFAM
Pfam:ARA70 197 338 5.1e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163336
SMART Domains Protein: ENSMUSP00000126071
Gene: ENSMUSG00000056234

Pfam:ARA70 33 169 2.4e-28 PFAM
Pfam:ARA70 199 334 4.7e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163379
SMART Domains Protein: ENSMUSP00000129688
Gene: ENSMUSG00000013701

low complexity region 3 25 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168334
SMART Domains Protein: ENSMUSP00000128739
Gene: ENSMUSG00000056234

Pfam:ARA70 37 96 1.1e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168385
SMART Domains Protein: ENSMUSP00000126222
Gene: ENSMUSG00000056234

Pfam:ARA70 1 73 8.2e-24 PFAM
Pfam:ARA70 102 205 2.9e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169722
SMART Domains Protein: ENSMUSP00000129917
Gene: ENSMUSG00000056234

Pfam:ARA70 37 168 6.5e-45 PFAM
Pfam:ARA70 196 337 6.3e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170331
SMART Domains Protein: ENSMUSP00000126977
Gene: ENSMUSG00000013701

low complexity region 3 25 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000226683
AA Change: T174A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.2%
  • 20x: 97.1%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acads A T 5: 115,112,786 (GRCm38) C151S probably damaging Het
Actr8 T C 14: 29,986,344 (GRCm38) I193T probably benign Het
Btbd2 T C 10: 80,644,269 (GRCm38) N419S probably benign Het
Cacna2d1 T A 5: 16,356,833 (GRCm38) W821R probably damaging Het
Cadps2 T C 6: 23,626,647 (GRCm38) Y214C probably benign Het
Calu T A 6: 29,366,163 (GRCm38) L180Q probably damaging Het
Corin C T 5: 72,339,937 (GRCm38) V615I probably damaging Het
Cyp8b1 A T 9: 121,915,917 (GRCm38) D116E probably benign Het
D630036H23Rik C A 12: 36,381,712 (GRCm38) A96S unknown Het
Ddx24 A T 12: 103,411,296 (GRCm38) Y717N probably damaging Het
Dmap1 G T 4: 117,676,111 (GRCm38) Q249K probably benign Het
Dnah10 T A 5: 124,823,444 (GRCm38) W3922R probably damaging Het
Dnah14 T C 1: 181,690,208 (GRCm38) F2036L probably benign Het
Dnah14 T C 1: 181,797,746 (GRCm38) I4064T probably benign Het
Dock9 A C 14: 121,581,432 (GRCm38) V1546G probably damaging Het
Eif3a A T 19: 60,766,568 (GRCm38) S1059T unknown Het
Ep300 A G 15: 81,636,825 (GRCm38) E1262G unknown Het
Evl T A 12: 108,686,457 (GRCm38) I387N probably damaging Het
Fat2 A C 11: 55,309,926 (GRCm38) V774G probably damaging Het
Fez1 T A 9: 36,843,797 (GRCm38) Y31N probably benign Het
Fkbp10 A G 11: 100,423,134 (GRCm38) I435V probably damaging Het
Flnb A G 14: 7,929,004 (GRCm38) D1911G probably benign Het
Fnbp1 T C 2: 31,083,026 (GRCm38) Y154C probably benign Het
Fndc10 T C 4: 155,695,039 (GRCm38) I180T possibly damaging Het
Frmd4a G A 2: 4,604,215 (GRCm38) V965I possibly damaging Het
Gabrr2 A G 4: 33,071,352 (GRCm38) H64R possibly damaging Het
Glis3 T C 19: 28,531,003 (GRCm38) D527G probably damaging Het
Gm2022 A T 12: 87,895,479 (GRCm38) Q37L possibly damaging Het
H2-Ob T A 17: 34,241,015 (GRCm38) F33L probably damaging Het
Hbb-bh1 C T 7: 103,843,032 (GRCm38) E27K probably benign Het
Ifnb1 T A 4: 88,522,678 (GRCm38) T33S probably benign Het
Igkv4-80 T A 6: 69,016,782 (GRCm38) T42S probably damaging Het
Irs2 C T 8: 11,007,334 (GRCm38) G366D probably damaging Het
Kcnk2 CAAA CAA 1: 189,256,694 (GRCm38) probably null Het
Krtap5-3 T A 7: 142,202,331 (GRCm38) C302S unknown Het
Lgi1 A G 19: 38,306,309 (GRCm38) K510E probably benign Het
Lgi2 T A 5: 52,538,594 (GRCm38) D341V probably benign Het
Lin7c T C 2: 109,894,468 (GRCm38) I14T probably benign Het
Lrrc19 A T 4: 94,643,336 (GRCm38) M13K probably benign Het
Lrrc69 T C 4: 14,666,012 (GRCm38) I315M probably benign Het
Myo5c A T 9: 75,297,488 (GRCm38) D1541V probably damaging Het
Mypn T G 10: 63,167,240 (GRCm38) M373L probably benign Het
Nckipsd C A 9: 108,812,638 (GRCm38) H333N probably damaging Het
Nrg2 A T 18: 36,024,348 (GRCm38) L428Q probably null Het
Olfr1367 C A 13: 21,347,417 (GRCm38) T163K probably damaging Het
Olfr235 T C 19: 12,268,371 (GRCm38) I47T possibly damaging Het
Olfr53 T C 7: 140,651,991 (GRCm38) L4S probably benign Het
Otogl T A 10: 107,822,033 (GRCm38) probably null Het
Otogl C T 10: 107,901,295 (GRCm38) G86D probably damaging Het
Papln A T 12: 83,791,844 (GRCm38) Q1249L probably benign Het
Plxna2 G T 1: 194,644,894 (GRCm38) G379C probably damaging Het
Pofut2 T C 10: 77,259,426 (GRCm38) I35T probably benign Het
Pros1 A G 16: 62,924,524 (GRCm38) T501A possibly damaging Het
Rapgef1 T C 2: 29,735,809 (GRCm38) S1042P possibly damaging Het
Rps6kb1 C T 11: 86,517,617 (GRCm38) E185K probably damaging Het
Slc13a2 A T 11: 78,403,407 (GRCm38) L216Q probably damaging Het
Slc22a14 T C 9: 119,180,549 (GRCm38) Y160C probably damaging Het
Slc22a4 T A 11: 53,988,947 (GRCm38) I429F possibly damaging Het
Slc26a3 A G 12: 31,461,786 (GRCm38) K457E probably damaging Het
Slc47a2 T C 11: 61,336,234 (GRCm38) I169M possibly damaging Het
Slco1a1 C T 6: 141,908,946 (GRCm38) V660I probably benign Het
Smyd1 A G 6: 71,225,466 (GRCm38) Y252H probably damaging Het
Soga3 G A 10: 29,196,973 (GRCm38) D754N probably damaging Het
Spp2 A T 1: 88,406,973 (GRCm38) probably benign Het
Stra8 T A 6: 34,934,186 (GRCm38) W250R probably damaging Het
Syne1 A C 10: 5,220,359 (GRCm38) L5183R probably damaging Het
Tdrd9 T C 12: 112,046,250 (GRCm38) S1203P probably damaging Het
Th C A 7: 142,899,883 (GRCm38) E27* probably null Het
Thada C A 17: 84,429,191 (GRCm38) L887F probably damaging Het
Tmem132b A T 5: 125,783,356 (GRCm38) E555V probably damaging Het
Tnik A T 3: 28,594,944 (GRCm38) Q457L unknown Het
Uba7 C A 9: 107,983,838 (GRCm38) H942Q probably benign Het
Upf2 T C 2: 5,961,267 (GRCm38) S233P unknown Het
Urm1 T A 2: 29,842,748 (GRCm38) N72K probably damaging Het
Usp10 T C 8: 119,948,765 (GRCm38) S508P possibly damaging Het
Usp37 G A 1: 74,459,922 (GRCm38) P632S probably damaging Het
Wdr77 T A 3: 105,965,088 (GRCm38) N209K probably benign Het
Zbtb24 C T 10: 41,451,433 (GRCm38) T105M probably benign Het
Zfp341 T A 2: 154,643,843 (GRCm38) I671N probably damaging Het
Zfp414 A G 17: 33,630,010 (GRCm38) T73A probably benign Het
Zfp574 A T 7: 25,081,979 (GRCm38) I809F possibly damaging Het
Zfp62 T C 11: 49,217,281 (GRCm38) I733T probably damaging Het
Zfp719 A G 7: 43,590,157 (GRCm38) I390V possibly damaging Het
Other mutations in Timm23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00984:Timm23 APN 14 32,180,655 (GRCm38) missense probably benign 0.34
IGL02023:Timm23 APN 14 32,193,847 (GRCm38) splice site probably benign
R0666:Timm23 UTSW 14 32,199,036 (GRCm38) splice site probably benign
R2214:Timm23 UTSW 14 32,198,987 (GRCm38) missense probably damaging 0.98
R5132:Timm23 UTSW 14 32,193,945 (GRCm38) missense probably damaging 1.00
R5161:Timm23 UTSW 14 32,193,925 (GRCm38) missense probably damaging 1.00
R5427:Timm23 UTSW 14 32,189,146 (GRCm38) missense possibly damaging 0.95
R6518:Timm23 UTSW 14 32,201,637 (GRCm38) splice site probably null
R7659:Timm23 UTSW 14 32,198,978 (GRCm38) nonsense probably null
R7692:Timm23 UTSW 14 32,180,563 (GRCm38) missense probably damaging 1.00
R9609:Timm23 UTSW 14 32,180,586 (GRCm38) missense probably benign 0.21
RF024:Timm23 UTSW 14 32,180,555 (GRCm38) makesense probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2022-07-18