Incidental Mutation 'PIT4696001:Timm9'
ID 556810
Institutional Source Beutler Lab
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 # PIT4696001 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 71169947-71183458 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 71172305 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 22 (N22K)
Ref Sequence ENSEMBL: ENSMUSP00000021486 (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 possibly damaging
Transcript: ENSMUST00000021486
AA Change: N22K

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000021486
Gene: ENSMUSG00000021079
AA Change: N22K

DomainStartEndE-ValueType
Pfam:zf-Tim10_DDP 6 70 1.3e-18 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000166120
AA Change: N22K

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126298
Gene: ENSMUSG00000021079
AA Change: N22K

DomainStartEndE-ValueType
Pfam:zf-Tim10_DDP 8 69 1e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000220482
AA Change: N22K

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000220834
Predicted Effect possibly damaging
Transcript: ENSMUST00000221178
AA Change: N22K

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000221367
AA Change: N22K

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000221559
AA Change: N22K

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000221797
AA Change: N22K

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000221815
AA Change: N22K

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000221892
AA Change: N22K

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
  • 1x: 93.5%
  • 3x: 91.0%
  • 10x: 86.2%
  • 20x: 75.9%
Validation Efficiency 100% (57/57)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 G A 7: 119,384,209 (GRCm39) probably null Het
Adam20 T A 8: 41,247,985 (GRCm39) Y32N probably benign Het
Adm T C 7: 110,227,496 (GRCm39) V4A probably benign Het
Anpep G A 7: 79,489,212 (GRCm39) T320I possibly damaging Het
Atp8b1 T C 18: 64,672,341 (GRCm39) S1008G possibly damaging Het
B9d1 T A 11: 61,396,069 (GRCm39) M12K possibly damaging Het
Cad T C 5: 31,229,438 (GRCm39) L1435P probably damaging Het
Cat T C 2: 103,302,157 (GRCm39) D180G probably damaging Het
Cntln C T 4: 84,892,237 (GRCm39) T374M probably damaging Het
Cyp2a5 G A 7: 26,540,404 (GRCm39) R339Q probably benign Het
Defa22 T C 8: 21,652,352 (GRCm39) L6P probably damaging Het
Dr1 T A 5: 108,417,604 (GRCm39) I50K probably damaging Het
Eln C T 5: 134,766,032 (GRCm39) G57E unknown Het
Fat4 T C 3: 38,943,153 (GRCm39) I682T probably benign Het
Fat4 C A 3: 39,036,506 (GRCm39) A3386E probably damaging Het
Fcgr3 T A 1: 170,885,319 (GRCm39) Y102F probably damaging Het
Gm5930 A T 14: 44,573,993 (GRCm39) L115M probably damaging Het
Herc1 T A 9: 66,386,291 (GRCm39) V3748D probably damaging Het
Ino80d A G 1: 63,125,145 (GRCm39) S106P probably benign Het
Kcns3 C T 12: 11,142,749 (GRCm39) probably benign Het
Kndc1 T A 7: 139,512,830 (GRCm39) L1527Q probably damaging Het
Lepr T G 4: 101,637,180 (GRCm39) S690A probably benign Het
Lrfn5 T C 12: 61,890,343 (GRCm39) F544S probably damaging Het
Mapkap1 C A 2: 34,509,861 (GRCm39) H450Q probably damaging Het
Mdm1 A G 10: 117,994,445 (GRCm39) T485A probably benign Het
Megf10 T C 18: 57,410,760 (GRCm39) C690R probably damaging Het
Myo7a A G 7: 97,712,806 (GRCm39) M1723T probably benign Het
Nrip3 A T 7: 109,364,714 (GRCm39) C137* probably null Het
Or5w22 T A 2: 87,363,124 (GRCm39) I249N probably damaging Het
Pde4a T A 9: 21,122,297 (GRCm39) M731K probably benign Het
Pebp1 A G 5: 117,421,527 (GRCm39) L117P probably damaging Het
Phc2 T C 4: 128,598,995 (GRCm39) Y51H probably damaging Het
Ppp2r5b A G 19: 6,284,713 (GRCm39) F50S probably benign Het
Prpf4b A G 13: 35,083,825 (GRCm39) S865G probably benign Het
Ptpn5 C T 7: 46,738,354 (GRCm39) V243M probably benign Het
Rora T C 9: 69,271,841 (GRCm39) L273P possibly damaging Het
Rtp4 T A 16: 23,432,204 (GRCm39) S245R probably benign Het
Scgb2b20 C T 7: 33,063,985 (GRCm39) G95D probably benign Het
Sec24b A G 3: 129,788,040 (GRCm39) V820A probably benign Het
Sim2 A G 16: 93,895,168 (GRCm39) D62G possibly damaging Het
Slc17a4 A T 13: 24,084,497 (GRCm39) V429D probably benign Het
Sp2 T C 11: 96,852,799 (GRCm39) T42A probably damaging Het
Spata3 G A 1: 85,952,169 (GRCm39) R141Q unknown Het
Sptbn2 A T 19: 4,795,605 (GRCm39) E1658D probably benign Het
Tcaf1 T C 6: 42,655,473 (GRCm39) H501R probably benign Het
Tec G A 5: 72,931,178 (GRCm39) T262M possibly damaging Het
Tln1 C T 4: 43,542,701 (GRCm39) probably null Het
Tmbim4 A G 10: 120,053,529 (GRCm39) I109M probably benign Het
Tmc7 T C 7: 118,163,566 (GRCm39) K110E probably benign Het
Tmem107 C T 11: 68,963,399 (GRCm39) P136L probably benign Het
Ttc21b T C 2: 66,061,563 (GRCm39) probably null Het
Ubd A C 17: 37,506,335 (GRCm39) T74P probably damaging Het
Vps11 A G 9: 44,269,486 (GRCm39) V255A possibly damaging Het
Vsnl1 T C 12: 11,376,448 (GRCm39) T146A probably benign Het
Wdr38 G T 2: 38,889,984 (GRCm39) probably null Het
Yes1 T A 5: 32,841,969 (GRCm39) S498T possibly damaging Het
Zc3h13 G A 14: 75,569,323 (GRCm39) R1390H probably damaging Het
Zscan4b A G 7: 10,635,949 (GRCm39) V126A possibly damaging Het
Other mutations in Timm9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02803:Timm9 APN 12 71,173,148 (GRCm39) utr 5 prime probably benign
R6190:Timm9 UTSW 12 71,173,124 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- TCAACCTGGCATCTTGGGTTC -3'
(R):5'- GGAAGACCATGTGTGTACATTAAG -3'

Sequencing Primer
(F):5'- CCTCTAAGCATCTGCATGGAAATGG -3'
(R):5'- GACCATGTGTGTACATTAAGGCTCC -3'
Posted On 2019-06-07