Incidental Mutation 'R6106:Tomm34'
ID 485494
Institutional Source Beutler Lab
Gene Symbol Tomm34
Ensembl Gene ENSMUSG00000018322
Gene Name translocase of outer mitochondrial membrane 34
Synonyms TOM34, 2610100K07Rik
MMRRC Submission 044256-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.179) question?
Stock # R6106 (G1)
Quality Score 215.009
Status Not validated
Chromosome 2
Chromosomal Location 163895460-163913089 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 163902911 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 133 (M133T)
Ref Sequence ENSEMBL: ENSMUSP00000105010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018466] [ENSMUST00000109384]
AlphaFold Q9CYG7
Predicted Effect probably benign
Transcript: ENSMUST00000018466
AA Change: M133T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000018466
Gene: ENSMUSG00000018322
AA Change: M133T

DomainStartEndE-ValueType
TPR 9 42 1.4e1 SMART
TPR 51 84 4.21e-3 SMART
TPR 85 118 2.55e-2 SMART
low complexity region 167 182 N/A INTRINSIC
TPR 193 226 1.56e1 SMART
TPR 227 260 5.51e-7 SMART
TPR 261 294 3.67e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109384
AA Change: M133T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105010
Gene: ENSMUSG00000018322
AA Change: M133T

DomainStartEndE-ValueType
TPR 9 42 1.73e1 SMART
TPR 51 84 4.21e-3 SMART
TPR 85 118 2.55e-2 SMART
low complexity region 167 182 N/A INTRINSIC
TPR 193 226 1.56e1 SMART
TPR 227 260 5.51e-7 SMART
TPR 261 294 3.67e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132602
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.3%
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 involved in the import of precursor proteins into mitochondria. The encoded protein has a chaperone-like activity, binding the mature portion of unfolded proteins and aiding their import into mitochondria. This protein, which is found in the cytoplasm and sometimes associated with the outer mitochondrial membrane, has a weak ATPase activity and contains 6 TPR repeats. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are fertile and males do not display any defects in the testes or in spermatogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace A G 11: 105,879,838 (GRCm39) E726G probably damaging Het
Adgrl4 A G 3: 151,246,622 (GRCm39) I641V possibly damaging Het
Apoa5 A T 9: 46,181,931 (GRCm39) R336* probably null Het
Bfsp2 T A 9: 103,357,023 (GRCm39) T135S probably benign Het
Calhm2 A T 19: 47,121,501 (GRCm39) Y223N probably damaging Het
Ccdc158 T C 5: 92,775,325 (GRCm39) E960G probably benign Het
Ccdc80 T C 16: 44,917,073 (GRCm39) S610P probably benign Het
Cdon T A 9: 35,366,704 (GRCm39) Y193* probably null Het
Cept1 A T 3: 106,410,992 (GRCm39) H400Q probably benign Het
Cfap144 T C 11: 58,687,427 (GRCm39) E66G probably damaging Het
Clspn T A 4: 126,484,434 (GRCm39) N1197K probably benign Het
Cnot8 T C 11: 58,004,816 (GRCm39) S172P probably damaging Het
Col14a1 T C 15: 55,383,404 (GRCm39) I1794T probably damaging Het
Cracdl T C 1: 37,652,493 (GRCm39) T1105A possibly damaging Het
Fam193a A T 5: 34,616,374 (GRCm39) T564S possibly damaging Het
Galnt1 G A 18: 24,387,720 (GRCm39) V154I probably benign Het
Gstcd C A 3: 132,704,675 (GRCm39) E526D probably benign Het
Ighv1-42 A C 12: 114,900,907 (GRCm39) S59R probably benign Het
Morn3 A G 5: 123,184,823 (GRCm39) C6R possibly damaging Het
Nrdc A T 4: 108,901,782 (GRCm39) K617M probably damaging Het
Or2aj4 A G 16: 19,385,009 (GRCm39) L208P probably damaging Het
Or51ai2 A G 7: 103,587,400 (GRCm39) H271R probably benign Het
Or8b36 T A 9: 37,937,762 (GRCm39) I220N probably damaging Het
Or8b49 T C 9: 38,506,252 (GRCm39) M245T probably benign Het
Pcdhb11 A G 18: 37,556,056 (GRCm39) N462S probably damaging Het
Pfpl G T 19: 12,406,825 (GRCm39) D359Y probably damaging Het
Phyhip T C 14: 70,699,299 (GRCm39) V34A probably benign Het
Pigu A T 2: 155,139,116 (GRCm39) I313N possibly damaging Het
Plch1 C T 3: 63,609,444 (GRCm39) R912H probably damaging Het
Psg16 T A 7: 16,829,091 (GRCm39) F225Y possibly damaging Het
Setdb2 T A 14: 59,660,898 (GRCm39) K82* probably null Het
Sgms1 A G 19: 32,101,825 (GRCm39) S394P possibly damaging Het
Slc16a1 T C 3: 104,560,310 (GRCm39) L205P probably benign Het
Slc19a1 T A 10: 76,880,603 (GRCm39) I380N probably damaging Het
Snx32 A G 19: 5,548,042 (GRCm39) I131T probably benign Het
Sorbs3 T C 14: 70,430,053 (GRCm39) probably null Het
Stc2 T A 11: 31,310,392 (GRCm39) I215L probably benign Het
Tln2 C T 9: 67,230,302 (GRCm39) A84T probably damaging Het
Usp43 A G 11: 67,770,733 (GRCm39) S634P probably benign Het
Vmn2r59 T A 7: 41,661,749 (GRCm39) R689* probably null Het
Vmn2r9 C T 5: 108,992,902 (GRCm39) R536Q probably benign Het
Wdr24 C T 17: 26,043,579 (GRCm39) H134Y probably benign Het
Zfhx2 T A 14: 55,305,767 (GRCm39) probably null Het
Zfp1004 A G 2: 150,034,725 (GRCm39) K349E probably damaging Het
Zfp608 G T 18: 55,120,944 (GRCm39) H214Q possibly damaging Het
Zfp619 T C 7: 39,184,558 (GRCm39) V196A probably benign Het
Other mutations in Tomm34
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Tomm34 APN 2 163,900,582 (GRCm39) splice site probably benign
IGL02426:Tomm34 APN 2 163,906,875 (GRCm39) missense probably damaging 1.00
R0744:Tomm34 UTSW 2 163,912,896 (GRCm39) missense probably benign 0.34
R1938:Tomm34 UTSW 2 163,902,926 (GRCm39) missense probably benign 0.00
R4506:Tomm34 UTSW 2 163,896,292 (GRCm39) splice site probably null
R4541:Tomm34 UTSW 2 163,896,719 (GRCm39) missense probably benign 0.03
R4869:Tomm34 UTSW 2 163,896,637 (GRCm39) missense probably damaging 1.00
R5080:Tomm34 UTSW 2 163,912,816 (GRCm39) intron probably benign
R7037:Tomm34 UTSW 2 163,912,398 (GRCm39) missense probably damaging 1.00
R8746:Tomm34 UTSW 2 163,902,884 (GRCm39) missense probably benign 0.00
R8857:Tomm34 UTSW 2 163,896,379 (GRCm39) missense probably damaging 1.00
R9175:Tomm34 UTSW 2 163,912,385 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GCTGCTCTAAACTTAGCCCC -3'
(R):5'- CAACCATGCTAAGGGAAGTGCC -3'

Sequencing Primer
(F):5'- CAGCCCAGCTCACCTCTG -3'
(R):5'- CCCCGTGGTGTTGGATC -3'
Posted On 2017-08-16