Incidental Mutation 'R0052:Timm8b'
ID 15310
Institutional Source Beutler Lab
Gene Symbol Timm8b
Ensembl Gene ENSMUSG00000039016
Gene Name translocase of inner mitochondrial membrane 8B
Synonyms Tim8b
MMRRC Submission 038346-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.510) question?
Stock # R0052 (G1)
Quality Score
Status Validated
Chromosome 9
Chromosomal Location 50515227-50516620 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 50516330 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 61 (D61V)
Ref Sequence ENSEMBL: ENSMUSP00000039335 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000175] [ENSMUST00000044051] [ENSMUST00000131351] [ENSMUST00000145139] [ENSMUST00000147671] [ENSMUST00000155435] [ENSMUST00000171462]
AlphaFold P62077
Predicted Effect probably benign
Transcript: ENSMUST00000000175
SMART Domains Protein: ENSMUSP00000000175
Gene: ENSMUSG00000000171

DomainStartEndE-ValueType
low complexity region 16 27 N/A INTRINSIC
Pfam:CybS 33 158 7.1e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000044051
AA Change: D61V

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000039335
Gene: ENSMUSG00000039016
AA Change: D61V

DomainStartEndE-ValueType
Pfam:zf-Tim10_DDP 14 76 5.1e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131351
SMART Domains Protein: ENSMUSP00000123319
Gene: ENSMUSG00000059820

DomainStartEndE-ValueType
low complexity region 142 175 N/A INTRINSIC
low complexity region 198 216 N/A INTRINSIC
low complexity region 224 256 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000145139
Predicted Effect probably benign
Transcript: ENSMUST00000147671
SMART Domains Protein: ENSMUSP00000117265
Gene: ENSMUSG00000059820

DomainStartEndE-ValueType
low complexity region 142 175 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000155435
SMART Domains Protein: ENSMUSP00000121198
Gene: ENSMUSG00000059820

DomainStartEndE-ValueType
low complexity region 142 175 N/A INTRINSIC
low complexity region 198 214 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171462
SMART Domains Protein: ENSMUSP00000133259
Gene: ENSMUSG00000059820

DomainStartEndE-ValueType
Pfam:NKAP 86 163 5.2e-26 PFAM
low complexity region 198 216 N/A INTRINSIC
low complexity region 224 256 N/A INTRINSIC
Meta Mutation Damage Score 0.6045 question?
Coding Region Coverage
  • 1x: 85.5%
  • 3x: 78.2%
  • 10x: 46.7%
  • 20x: 12.5%
Validation Efficiency 90% (62/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a well-conserved family of proteins with similarity to yeast Tim mitochondrial import proteins. This gene is encoded by a nuclear gene and is transported into the intermembrane space of the mitochondrion. When formed into complexes, these proteins guide membrane-spanning proteins across the mitochondrial intermembrane space before they are added into the mitochondrial inner membrane. This gene is adjacent to succinate dehydrogenase, subunit D (SDHD), in which mutations have been found in affected members of families with hereditary paraganglioma.[provided by RefSeq, Aug 2009]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apba1 T C 19: 23,893,315 (GRCm39) S438P possibly damaging Het
Atosa A G 9: 74,926,265 (GRCm39) probably benign Het
Atp2a1 A G 7: 126,057,069 (GRCm39) probably benign Het
Bicd2 T A 13: 49,528,790 (GRCm39) L184Q probably damaging Het
Bub1 G A 2: 127,650,959 (GRCm39) T618I probably benign Het
Dsp A G 13: 38,381,340 (GRCm39) D2096G possibly damaging Het
Eno4 A G 19: 58,956,985 (GRCm39) D357G probably damaging Het
Fcrl2 A T 3: 87,164,085 (GRCm39) I348N possibly damaging Het
Fgl2 A T 5: 21,580,347 (GRCm39) S230C probably damaging Het
Ginm1 T A 10: 7,655,070 (GRCm39) E57D possibly damaging Het
Itga9 T A 9: 118,465,617 (GRCm39) I157N probably damaging Het
Kif21a T C 15: 90,855,060 (GRCm39) E700G probably damaging Het
Mmd C T 11: 90,150,824 (GRCm39) probably benign Het
Morn3 T C 5: 123,184,726 (GRCm39) Y38C probably damaging Het
Prex2 T A 1: 11,230,380 (GRCm39) L802Q probably damaging Het
Psd3 A G 8: 68,335,631 (GRCm39) probably null Het
Ralgds T A 2: 28,434,400 (GRCm39) probably null Het
Rmdn2 A G 17: 79,957,760 (GRCm39) E16G probably damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc4a4 A C 5: 89,304,195 (GRCm39) H502P possibly damaging Het
Slco3a1 A T 7: 74,154,074 (GRCm39) I166N probably benign Het
Snx5 A T 2: 144,101,112 (GRCm39) probably null Het
Srgap1 T C 10: 121,636,732 (GRCm39) D741G possibly damaging Het
St8sia2 G T 7: 73,593,038 (GRCm39) Y339* probably null Het
Tdo2 T A 3: 81,874,332 (GRCm39) N210I probably benign Het
Thada A T 17: 84,762,586 (GRCm39) N104K probably damaging Het
Trbv12-1 T C 6: 41,090,850 (GRCm39) F74S possibly damaging Het
Tshz1 G A 18: 84,033,070 (GRCm39) T446I possibly damaging Het
Ubap2l T C 3: 89,946,235 (GRCm39) N123S possibly damaging Het
Usp12 A G 5: 146,675,914 (GRCm39) V336A possibly damaging Het
Xrn2 T A 2: 146,882,885 (GRCm39) probably benign Het
Zfp14 G T 7: 29,737,753 (GRCm39) Q411K probably damaging Het
Other mutations in Timm8b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00836:Timm8b APN 9 50,516,294 (GRCm39) missense possibly damaging 0.91
R0052:Timm8b UTSW 9 50,516,330 (GRCm39) missense possibly damaging 0.95
R6938:Timm8b UTSW 9 50,516,294 (GRCm39) missense possibly damaging 0.91
R9784:Timm8b UTSW 9 50,516,273 (GRCm39) missense probably benign 0.00
Posted On 2012-12-17