Incidental Mutation 'R4590:Timm10'
ID 342728
Institutional Source Beutler Lab
Gene Symbol Timm10
Ensembl Gene ENSMUSG00000027076
Gene Name translocase of inner mitochondrial membrane 10
Synonyms Timm13a, Tim13
Accession Numbers
Essential gene? Probably essential (E-score: 0.973) question?
Stock # R4590 (G1)
Quality Score 195
Status Not validated
Chromosome 2
Chromosomal Location 84657365-84660557 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 84657992 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 2 (D2E)
Ref Sequence ENSEMBL: ENSMUSP00000107258 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028470] [ENSMUST00000028471] [ENSMUST00000111631]
AlphaFold P62073
Predicted Effect possibly damaging
Transcript: ENSMUST00000028470
AA Change: D2E

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000028470
Gene: ENSMUSG00000027076
AA Change: D2E

DomainStartEndE-ValueType
Pfam:zf-Tim10_DDP 6 72 3.8e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000028471
SMART Domains Protein: ENSMUSP00000028471
Gene: ENSMUSG00000027077

DomainStartEndE-ValueType
low complexity region 56 72 N/A INTRINSIC
coiled coil region 124 154 N/A INTRINSIC
low complexity region 218 230 N/A INTRINSIC
low complexity region 236 246 N/A INTRINSIC
low complexity region 260 285 N/A INTRINSIC
CH 345 444 5.55e-18 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000111631
AA Change: D2E

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000107258
Gene: ENSMUSG00000027076
AA Change: D2E

DomainStartEndE-ValueType
Pfam:zf-Tim10_DDP 7 71 9.3e-26 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The mitochondrial protein encoded by this gene 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, functioning as intermembrane space chaperones for the highly insoluble carrier proteins. [provided by RefSeq, Nov 2011]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankhd1 T A 18: 36,716,697 (GRCm39) D201E probably damaging Het
Ano10 T A 9: 122,086,231 (GRCm39) Q398L probably benign Het
Ap3d1 A T 10: 80,555,646 (GRCm39) L319* probably null Het
Cacna1e T C 1: 154,312,265 (GRCm39) M1575V possibly damaging Het
Cep192 T A 18: 67,949,862 (GRCm39) Y315* probably null Het
Cndp2 C A 18: 84,687,933 (GRCm39) V353F probably damaging Het
Ctsq T A 13: 61,184,028 (GRCm39) N298I probably benign Het
Dnah6 A T 6: 73,129,695 (GRCm39) C1173S probably damaging Het
Dnah9 T C 11: 65,931,218 (GRCm39) M1993V probably damaging Het
Dnhd1 T C 7: 105,363,237 (GRCm39) V3933A probably damaging Het
Dnpep C A 1: 75,293,045 (GRCm39) V76L probably damaging Het
Dsc3 A C 18: 20,122,752 (GRCm39) C57W probably damaging Het
Dtx3 A G 10: 127,028,564 (GRCm39) S222P probably damaging Het
Eml5 T C 12: 98,803,600 (GRCm39) Y1009C possibly damaging Het
Fam169a A G 13: 97,234,093 (GRCm39) I122V probably benign Het
Fgr T A 4: 132,722,364 (GRCm39) V211E probably damaging Het
Flvcr1 T C 1: 190,744,343 (GRCm39) T402A probably benign Het
Frmd5 C T 2: 121,595,512 (GRCm39) probably null Het
Fut2 T C 7: 45,300,370 (GRCm39) N134S possibly damaging Het
Gm10110 A T 14: 90,134,982 (GRCm39) noncoding transcript Het
Gm7275 A T 16: 47,893,982 (GRCm39) noncoding transcript Het
Gm904 T A 13: 50,799,285 (GRCm39) C81* probably null Het
Herc1 T A 9: 66,344,946 (GRCm39) V1913E probably damaging Het
Hnmt T C 2: 23,909,111 (GRCm39) probably null Het
Ift172 T C 5: 31,411,299 (GRCm39) E1643G probably damaging Het
Inpp4b T A 8: 82,468,040 (GRCm39) M1K probably null Het
Keap1 G T 9: 21,148,905 (GRCm39) A34D probably damaging Het
Krt25 T C 11: 99,208,854 (GRCm39) probably benign Het
Lama2 A G 10: 26,865,410 (GRCm39) V2916A probably benign Het
Ly9 G A 1: 171,421,443 (GRCm39) Q603* probably null Het
Mis18bp1 A C 12: 65,205,280 (GRCm39) N14K possibly damaging Het
Mmrn1 G T 6: 60,937,797 (GRCm39) C265F probably damaging Het
Mrgprb5 C T 7: 47,817,809 (GRCm39) E309K probably benign Het
Nrtn T C 17: 57,058,504 (GRCm39) T166A probably damaging Het
Odr4 A G 1: 150,262,103 (GRCm39) probably null Het
Or8g50 T C 9: 39,648,146 (GRCm39) F12L probably damaging Het
Osbpl7 T A 11: 96,947,098 (GRCm39) S266R probably damaging Het
Pcdhb11 T C 18: 37,555,549 (GRCm39) I293T probably damaging Het
Pes1 A G 11: 3,927,986 (GRCm39) Y546C probably damaging Het
Pth1r A T 9: 110,551,339 (GRCm39) W587R probably benign Het
Rasgrf2 A G 13: 92,174,789 (GRCm39) Y147H probably damaging Het
Rbbp8 T A 18: 11,865,322 (GRCm39) L737* probably null Het
Rcor3 A T 1: 191,810,217 (GRCm39) F153L probably damaging Het
Rev3l G A 10: 39,682,929 (GRCm39) C349Y probably damaging Het
Rnf115 C T 3: 96,695,889 (GRCm39) T225M probably benign Het
Rnf157 A G 11: 116,250,098 (GRCm39) V200A probably damaging Het
Scfd2 T C 5: 74,372,917 (GRCm39) T653A probably benign Het
Sdccag8 T C 1: 176,775,858 (GRCm39) Y590H probably damaging Het
Sema4d T A 13: 51,877,654 (GRCm39) K59N probably benign Het
Serpinb7 C A 1: 107,379,563 (GRCm39) H323Q probably damaging Het
Setx T A 2: 29,034,821 (GRCm39) H435Q probably damaging Het
Sgk3 T C 1: 9,969,020 (GRCm39) S466P possibly damaging Het
Sgsm2 T C 11: 74,741,958 (GRCm39) M1011V probably damaging Het
Ssc4d G A 5: 135,993,538 (GRCm39) P106L probably benign Het
Taf7 T C 18: 37,775,784 (GRCm39) Q261R possibly damaging Het
Tbc1d2b T C 9: 90,152,553 (GRCm39) K71R possibly damaging Het
Tff3 C T 17: 31,348,508 (GRCm39) V15I probably benign Het
Tgfb3 C A 12: 86,124,589 (GRCm39) V40L possibly damaging Het
Ttc16 T A 2: 32,663,753 (GRCm39) N74I probably damaging Het
Ttll1 G A 15: 83,381,546 (GRCm39) T241I probably damaging Het
Uba6 T A 5: 86,260,603 (GRCm39) D992V probably damaging Het
Vmn1r25 T A 6: 57,955,480 (GRCm39) T270S probably benign Het
Vmn2r106 T C 17: 20,497,728 (GRCm39) I504V probably damaging Het
Vmn2r87 G T 10: 130,315,014 (GRCm39) H191N possibly damaging Het
Vnn1 C A 10: 23,775,303 (GRCm39) F184L possibly damaging Het
Vtn A T 11: 78,393,032 (GRCm39) I466F probably damaging Het
Zfp352 A C 4: 90,112,772 (GRCm39) D304A probably damaging Het
Other mutations in Timm10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01444:Timm10 APN 2 84,660,208 (GRCm39) missense probably damaging 1.00
R4896:Timm10 UTSW 2 84,660,192 (GRCm39) missense possibly damaging 0.89
R7241:Timm10 UTSW 2 84,660,333 (GRCm39) makesense probably null
Z1176:Timm10 UTSW 2 84,660,219 (GRCm39) nonsense probably null
Z1177:Timm10 UTSW 2 84,660,162 (GRCm39) missense possibly damaging 0.67
Predicted Primers PCR Primer
(F):5'- AGTGACCTTGAGCTGGACAC -3'
(R):5'- TGGCTCCACTACCTTATCGAAAG -3'

Sequencing Primer
(F):5'- CCACTTCTGTTAAGAGGGCTGATTAC -3'
(R):5'- AGCATTCGTTACAAGTGCTTCAC -3'
Posted On 2015-09-24