Incidental Mutation 'R7037:Tomm34'
ID 546748
Institutional Source Beutler Lab
Gene Symbol Tomm34
Ensembl Gene ENSMUSG00000018322
Gene Name translocase of outer mitochondrial membrane 34
Synonyms TOM34, 2610100K07Rik
MMRRC Submission 045137-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R7037 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 163895460-163913089 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 163912398 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 39 (L39P)
Ref Sequence ENSEMBL: ENSMUSP00000018466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018353] [ENSMUST00000018466] [ENSMUST00000109384] [ENSMUST00000134078]
AlphaFold Q9CYG7
Predicted Effect probably benign
Transcript: ENSMUST00000018353
SMART Domains Protein: ENSMUSP00000018353
Gene: ENSMUSG00000018209

DomainStartEndE-ValueType
S_TKc 30 281 1.97e-104 SMART
low complexity region 311 326 N/A INTRINSIC
Pfam:Mst1_SARAH 433 480 2.4e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000018466
AA Change: L39P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000018466
Gene: ENSMUSG00000018322
AA Change: L39P

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
SMART Domains Protein: ENSMUSP00000105010
Gene: ENSMUSG00000018322

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 probably benign
Transcript: ENSMUST00000134078
SMART Domains Protein: ENSMUSP00000122440
Gene: ENSMUSG00000018209

DomainStartEndE-ValueType
Pfam:Pkinase 29 113 7.2e-22 PFAM
Pfam:Pkinase_Tyr 29 113 1.1e-17 PFAM
Meta Mutation Damage Score 0.3433 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (70/70)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 A T 7: 119,367,266 (GRCm39) N33I probably damaging Het
Ahnak2 A T 12: 112,740,712 (GRCm39) V314D probably damaging Het
Arl14epl T G 18: 47,065,510 (GRCm39) C92G probably benign Het
Atp6v1h T A 1: 5,220,215 (GRCm39) M423K possibly damaging Het
Baiap3 G A 17: 25,462,814 (GRCm39) R1075C probably benign Het
Baz2b C T 2: 59,764,014 (GRCm39) probably null Het
Bicral T C 17: 47,135,560 (GRCm39) H550R probably benign Het
C1rl A G 6: 124,485,598 (GRCm39) Y323C probably damaging Het
Ccr9 T A 9: 123,609,036 (GRCm39) H239Q possibly damaging Het
Cdh16 T A 8: 105,344,267 (GRCm39) R91* probably null Het
Coro1c A G 5: 113,983,457 (GRCm39) F357S possibly damaging Het
Cpsf4 G A 5: 145,112,939 (GRCm39) R141Q possibly damaging Het
Cryzl2 G A 1: 157,298,318 (GRCm39) V236I probably damaging Het
Cttnbp2 T C 6: 18,435,117 (GRCm39) E247G probably damaging Het
Dbr1 T A 9: 99,458,621 (GRCm39) probably null Het
Dclk1 T C 3: 55,370,469 (GRCm39) S23P probably damaging Het
Dpyd A T 3: 118,692,938 (GRCm39) I361F probably benign Het
Elac2 A G 11: 64,874,537 (GRCm39) E218G probably benign Het
Eml4 T A 17: 83,732,756 (GRCm39) D136E probably benign Het
Foxred1 A T 9: 35,118,844 (GRCm39) S223T probably benign Het
Garin5b G T 7: 4,761,584 (GRCm39) probably benign Het
Gask1a G T 9: 121,794,592 (GRCm39) V249L possibly damaging Het
Gm11595 A G 11: 99,663,474 (GRCm39) C69R unknown Het
Gna14 A T 19: 16,511,128 (GRCm39) H59L Het
H2-Ab1 T A 17: 34,486,963 (GRCm39) I239N probably damaging Het
Ints7 T C 1: 191,351,717 (GRCm39) S809P probably benign Het
Itgb4 T A 11: 115,896,391 (GRCm39) Y1379* probably null Het
Kank1 A G 19: 25,407,705 (GRCm39) D1233G probably damaging Het
Kif13a C T 13: 46,905,931 (GRCm39) V671M possibly damaging Het
Lrrc66 A T 5: 73,764,504 (GRCm39) D846E probably benign Het
Lyst A G 13: 13,791,251 (GRCm39) H38R probably damaging Het
Mc3r T C 2: 172,091,554 (GRCm39) F259L probably damaging Het
Med25 A G 7: 44,532,206 (GRCm39) Y384H probably damaging Het
Met A T 6: 17,547,127 (GRCm39) probably benign Het
Mmp16 T C 4: 18,116,148 (GRCm39) V584A possibly damaging Het
Mrgprb3 A G 7: 48,292,942 (GRCm39) L203P probably damaging Het
Mus81 A G 19: 5,536,108 (GRCm39) L185P probably damaging Het
Naaa A G 5: 92,424,934 (GRCm39) V75A possibly damaging Het
Obscn T A 11: 58,934,755 (GRCm39) T5292S probably damaging Het
Obscn T C 11: 58,943,430 (GRCm39) S4801G probably damaging Het
Or2ag19 T C 7: 106,444,543 (GRCm39) S242P probably damaging Het
Otof T C 5: 30,538,882 (GRCm39) D1112G probably benign Het
Pals1 T A 12: 78,843,973 (GRCm39) I59N probably damaging Het
Pbx4 A G 8: 70,317,525 (GRCm39) R170G probably damaging Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Plce1 A T 19: 38,690,461 (GRCm39) D715V probably damaging Het
Pms1 T C 1: 53,246,770 (GRCm39) T311A possibly damaging Het
Popdc2 A G 16: 38,194,629 (GRCm39) D350G probably damaging Het
Prex1 A G 2: 166,429,100 (GRCm39) V661A probably benign Het
Ptbp2 A G 3: 119,545,557 (GRCm39) Y130H probably damaging Het
Rev3l C T 10: 39,727,971 (GRCm39) R2707W probably damaging Het
Rpl37 G A 15: 5,147,185 (GRCm39) R75K probably null Het
Ryr3 T A 2: 112,779,475 (GRCm39) R259* probably null Het
Scai A T 2: 39,080,633 (GRCm39) S8T probably benign Het
Scn4a C A 11: 106,211,726 (GRCm39) L1430F probably damaging Het
Sema5a A G 15: 32,686,993 (GRCm39) K1035R probably damaging Het
Siah3 A G 14: 75,763,025 (GRCm39) H92R probably benign Het
Smc4 G A 3: 68,925,528 (GRCm39) V342I possibly damaging Het
Spata31d1a C T 13: 59,848,138 (GRCm39) C1330Y possibly damaging Het
St18 C A 1: 6,873,260 (GRCm39) H332N possibly damaging Het
Sycp1 T A 3: 102,806,250 (GRCm39) E480D possibly damaging Het
Tex14 A T 11: 87,388,741 (GRCm39) I323F probably damaging Het
Tm7sf2 A T 19: 6,114,107 (GRCm39) probably null Het
Tmem241 G T 18: 12,246,463 (GRCm39) H62Q probably benign Het
Tmem54 T A 4: 129,004,594 (GRCm39) probably null Het
Triml2 T A 8: 43,646,573 (GRCm39) V354D probably damaging Het
Usp19 T C 9: 108,374,157 (GRCm39) I738T possibly damaging Het
Utp25 A C 1: 192,803,031 (GRCm39) probably null Het
Utrn T A 10: 12,702,514 (GRCm39) probably null Het
Zfp1005 G T 2: 150,108,376 (GRCm39) V46F possibly damaging 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
R6106:Tomm34 UTSW 2 163,902,911 (GRCm39) missense probably benign
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'- GGACAGGTGCGCTAGCTATATG -3'
(R):5'- ACTTCCGCAATGGCCAGTAC -3'

Sequencing Primer
(F):5'- CTATATGCGGGGGCGTG -3'
(R):5'- TTAAGGGCACGCATCCG -3'
Posted On 2019-05-13