Incidental Mutation 'IGL02803:Timm9'
ID 360325
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Timm9
Ensembl Gene ENSMUSG00000021079
Gene Name translocase of inner mitochondrial membrane 9
Synonyms 2810011L15Rik, Timm10, Tim10a
Accession Numbers
Essential gene? Possibly essential (E-score: 0.513) question?
Stock # IGL02803
Quality Score
Status
Chromosome 12
Chromosomal Location 71169947-71183458 bp(-) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) T to C at 71173148 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021482] [ENSMUST00000021486] [ENSMUST00000166120] [ENSMUST00000220482] [ENSMUST00000220834] [ENSMUST00000221178] [ENSMUST00000221367] [ENSMUST00000221559] [ENSMUST00000221797] [ENSMUST00000221815] [ENSMUST00000221892]
AlphaFold Q9WV98
Predicted Effect probably benign
Transcript: ENSMUST00000021482
SMART Domains Protein: ENSMUSP00000021482
Gene: ENSMUSG00000021078

DomainStartEndE-ValueType
Pfam:MAS20 14 128 7.6e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000021486
SMART Domains Protein: ENSMUSP00000021486
Gene: ENSMUSG00000021079

DomainStartEndE-ValueType
Pfam:zf-Tim10_DDP 6 70 1.3e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166120
SMART Domains Protein: ENSMUSP00000126298
Gene: ENSMUSG00000021079

DomainStartEndE-ValueType
Pfam:zf-Tim10_DDP 8 69 1e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220482
Predicted Effect probably benign
Transcript: ENSMUST00000220834
Predicted Effect probably benign
Transcript: ENSMUST00000221178
Predicted Effect probably benign
Transcript: ENSMUST00000221367
Predicted Effect probably benign
Transcript: ENSMUST00000221559
Predicted Effect probably benign
Transcript: ENSMUST00000221797
Predicted Effect probably benign
Transcript: ENSMUST00000221815
Predicted Effect probably benign
Transcript: ENSMUST00000221892
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221962
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TIMM9 belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane.[supplied by OMIM, Apr 2004]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agmo C T 12: 37,302,480 (GRCm39) L106F probably benign Het
Appl1 A G 14: 26,673,473 (GRCm39) I208T possibly damaging Het
Arap2 G T 5: 62,906,452 (GRCm39) A189D probably benign Het
Arhgef12 T C 9: 42,883,324 (GRCm39) K1402E possibly damaging Het
C7 A C 15: 5,079,042 (GRCm39) F89V probably damaging Het
Camsap2 G A 1: 136,208,861 (GRCm39) T877I probably damaging Het
Cpt2 T C 4: 107,764,583 (GRCm39) T394A probably benign Het
Csnk2a1 G T 2: 152,116,005 (GRCm39) probably benign Het
Dnah10 C A 5: 124,875,078 (GRCm39) T2528N probably damaging Het
Entpd8 G T 2: 24,975,151 (GRCm39) W494L probably damaging Het
Fam114a1 T A 5: 65,163,135 (GRCm39) probably benign Het
Fat4 T C 3: 38,943,444 (GRCm39) V779A probably damaging Het
Gckr T C 5: 31,455,548 (GRCm39) S34P probably damaging Het
Golga4 T C 9: 118,364,528 (GRCm39) V297A probably benign Het
Gpr65 T C 12: 98,241,469 (GRCm39) S41P probably damaging Het
Gps1 G T 11: 120,677,649 (GRCm39) A221S probably damaging Het
Heatr1 T A 13: 12,448,867 (GRCm39) S1861T probably damaging Het
Hmces A G 6: 87,902,711 (GRCm39) E184G probably damaging Het
Itfg1 T C 8: 86,452,140 (GRCm39) probably null Het
Mrtfb C T 16: 13,221,020 (GRCm39) T743I possibly damaging Het
Nfe2l3 A G 6: 51,434,291 (GRCm39) S284G possibly damaging Het
Nlrp2 C A 7: 5,331,317 (GRCm39) A360S probably damaging Het
Nop9 A G 14: 55,987,533 (GRCm39) H298R probably benign Het
Or5an1 A T 19: 12,261,347 (GRCm39) S312C possibly damaging Het
Or5h17 T A 16: 58,820,321 (GRCm39) V91E probably benign Het
Or6ae1 T C 7: 139,742,287 (GRCm39) D192G possibly damaging Het
Osgin1 A G 8: 120,170,006 (GRCm39) M158V probably benign Het
Patj C A 4: 98,314,301 (GRCm39) Q374K probably damaging Het
Pck1 G T 2: 172,997,797 (GRCm39) G289W probably damaging Het
Phkg1 T G 5: 129,894,895 (GRCm39) I219L possibly damaging Het
Ppp1r15b G A 1: 133,061,081 (GRCm39) A533T probably damaging Het
Ppwd1 T C 13: 104,350,192 (GRCm39) I398V probably benign Het
Prkdc A G 16: 15,651,530 (GRCm39) probably benign Het
Psg25 G A 7: 18,260,212 (GRCm39) L229F possibly damaging Het
Rps6ka1 T A 4: 133,608,265 (GRCm39) Q24L probably benign Het
Sgk3 T C 1: 9,949,273 (GRCm39) I147T possibly damaging Het
Slc25a24 T A 3: 109,062,387 (GRCm39) I159N probably damaging Het
Slc26a4 T C 12: 31,572,526 (GRCm39) probably null Het
Slc35f4 T C 14: 49,541,714 (GRCm39) I347V probably benign Het
Spag17 A T 3: 100,016,713 (GRCm39) M2163L probably benign Het
Stab2 C T 10: 86,786,133 (GRCm39) probably benign Het
Sult2a8 G A 7: 14,145,630 (GRCm39) probably benign Het
Syne2 T C 12: 76,078,320 (GRCm39) L4718P probably damaging Het
Timd4 G T 11: 46,706,521 (GRCm39) G108W probably damaging Het
Vmn2r98 G A 17: 19,286,275 (GRCm39) V258I probably benign Het
Zcchc9 C T 13: 91,949,000 (GRCm39) V174I probably benign Het
Zdbf2 T C 1: 63,342,236 (GRCm39) V205A possibly damaging Het
Other mutations in Timm9
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4696001:Timm9 UTSW 12 71,172,305 (GRCm39) missense possibly damaging 0.92
R6190:Timm9 UTSW 12 71,173,124 (GRCm39) missense probably benign 0.19
Posted On 2015-12-18