Incidental Mutation 'IGL03328:Tomm70a'
ID 416732
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tomm70a
Ensembl Gene ENSMUSG00000022752
Gene Name translocase of outer mitochondrial membrane 70A
Synonyms D16Ium22e, Tom70, 2610044B22Rik, Tomm70a, D16Wsu109e, D16Ium22
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # IGL03328
Quality Score
Status
Chromosome 16
Chromosomal Location 56942077-56974893 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56965150 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 445 (C445R)
Ref Sequence ENSEMBL: ENSMUSP00000129186 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166897]
AlphaFold Q9CZW5
Predicted Effect probably damaging
Transcript: ENSMUST00000166897
AA Change: C445R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000129186
Gene: ENSMUSG00000022752
AA Change: C445R

DomainStartEndE-ValueType
low complexity region 2 37 N/A INTRINSIC
low complexity region 45 61 N/A INTRINSIC
low complexity region 64 75 N/A INTRINSIC
low complexity region 98 108 N/A INTRINSIC
TPR 117 150 1.04e-7 SMART
TPR 156 189 1.97e-3 SMART
TPR 190 223 1.6e1 SMART
low complexity region 278 291 N/A INTRINSIC
TPR 332 365 1.17e1 SMART
TPR 370 403 3.5e0 SMART
TPR 404 437 3.32e-1 SMART
TPR 445 478 7.49e1 SMART
TPR 479 512 9.39e-1 SMART
TPR 513 547 9.48e1 SMART
TPR 548 581 4.03e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231298
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an import receptor of the outer mitochondrial membrane that is part of the translocase of the outer membrane complex. This protein is involved in the import of mitochondrial precursor proteins. [provided by RefSeq, Oct 2011]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A T 11: 84,211,355 (GRCm39) M1556L probably benign Het
Aicda T G 6: 122,539,396 (GRCm39) D187E probably benign Het
Arfgap3 A C 15: 83,227,282 (GRCm39) F43L probably damaging Het
AW551984 T C 9: 39,508,412 (GRCm39) E368G probably damaging Het
Bbs4 T C 9: 59,251,401 (GRCm39) E33G probably damaging Het
Bcas1 T A 2: 170,208,316 (GRCm39) K437* probably null Het
Brwd1 A T 16: 95,803,925 (GRCm39) W2082R probably damaging Het
Card6 A T 15: 5,134,927 (GRCm39) probably benign Het
Cd200r4 A G 16: 44,653,882 (GRCm39) I226M possibly damaging Het
Cep57l1 T C 10: 41,619,148 (GRCm39) E73G probably damaging Het
Chaf1a T G 17: 56,370,374 (GRCm39) F613C probably damaging Het
Clybl G T 14: 122,639,406 (GRCm39) K323N probably damaging Het
Coa7 A G 4: 108,195,479 (GRCm39) D136G probably damaging Het
Col5a2 C A 1: 45,415,306 (GRCm39) V1478L possibly damaging Het
Ctnnd2 T C 15: 30,921,993 (GRCm39) probably benign Het
Cyp4f17 T G 17: 32,739,600 (GRCm39) M174R probably damaging Het
Dnah10 A T 5: 124,831,354 (GRCm39) D794V probably benign Het
Eapp A G 12: 54,738,878 (GRCm39) S87P probably benign Het
Efnb3 A G 11: 69,448,031 (GRCm39) I137T probably damaging Het
Eif4e T A 3: 138,259,488 (GRCm39) probably benign Het
Fam83b T A 9: 76,400,324 (GRCm39) I260L probably benign Het
Fras1 A G 5: 96,929,619 (GRCm39) T4008A probably damaging Het
Fut8 A T 12: 77,412,003 (GRCm39) R118W probably damaging Het
Glt1d1 A C 5: 127,734,183 (GRCm39) D119A probably benign Het
Gm3727 T A 14: 7,261,685 (GRCm38) *206C probably null Het
Gmip G A 8: 70,264,261 (GRCm39) V174M possibly damaging Het
Gtf2ird1 A G 5: 134,417,983 (GRCm39) probably null Het
Haao C T 17: 84,154,078 (GRCm39) C23Y probably damaging Het
Hip1 A T 5: 135,453,728 (GRCm39) V400E probably damaging Het
Keg1 A G 19: 12,696,461 (GRCm39) N215S probably damaging Het
Lss T G 10: 76,376,785 (GRCm39) I334S probably damaging Het
Lyn A C 4: 3,745,327 (GRCm39) E77D probably benign Het
Myo3a A G 2: 22,468,210 (GRCm39) E1426G probably benign Het
Ncapg2 A G 12: 116,403,677 (GRCm39) E863G possibly damaging Het
Ncl T C 1: 86,280,319 (GRCm39) Y496C probably damaging Het
Nefm A T 14: 68,358,739 (GRCm39) S432T probably benign Het
Nipsnap1 A G 11: 4,834,096 (GRCm39) Y95C possibly damaging Het
Npc1l1 C A 11: 6,168,643 (GRCm39) E913* probably null Het
Nup205 T C 6: 35,209,349 (GRCm39) L1552P probably damaging Het
Or2t46 A G 11: 58,472,539 (GRCm39) N290D probably damaging Het
Or4c112 G T 2: 88,854,199 (GRCm39) Y49* probably null Het
Or52h7 T A 7: 104,213,677 (GRCm39) V83D probably damaging Het
Or7c70 C T 10: 78,683,201 (GRCm39) E183K probably benign Het
Osm A C 11: 4,188,426 (GRCm39) I18L unknown Het
Otoa T A 7: 120,710,217 (GRCm39) S254R probably damaging Het
Parp1 T C 1: 180,427,155 (GRCm39) probably benign Het
Pcdh17 A G 14: 84,770,551 (GRCm39) I1010V probably benign Het
Peli2 A T 14: 48,490,032 (GRCm39) probably null Het
Pkd1l3 T G 8: 110,388,738 (GRCm39) probably benign Het
Pkhd1 A G 1: 20,151,524 (GRCm39) probably benign Het
Polg2 A C 11: 106,659,163 (GRCm39) V450G probably benign Het
Potegl A T 2: 23,102,817 (GRCm39) Y185F possibly damaging Het
Ptpn13 A T 5: 103,664,214 (GRCm39) T401S probably benign Het
Rgs22 C T 15: 36,043,350 (GRCm39) probably null Het
Rttn T G 18: 89,061,152 (GRCm39) S1107A probably benign Het
Scn5a G T 9: 119,366,702 (GRCm39) N328K probably benign Het
Sned1 G A 1: 93,217,089 (GRCm39) A1325T probably benign Het
St8sia4 T A 1: 95,588,595 (GRCm39) E80V probably benign Het
Stard7 T C 2: 127,134,176 (GRCm39) probably benign Het
Suco G T 1: 161,647,990 (GRCm39) P1099T probably damaging Het
Syn2 G T 6: 115,251,221 (GRCm39) C459F probably damaging Het
Tas2r117 A C 6: 132,780,041 (GRCm39) I60L probably benign Het
Tpsab1 T A 17: 25,564,102 (GRCm39) D87V probably benign Het
Trgc4 A G 13: 19,536,416 (GRCm39) Y158C unknown Het
Trpm6 A T 19: 18,815,446 (GRCm39) E1177D possibly damaging Het
Vmn2r71 A T 7: 85,273,499 (GRCm39) D771V probably damaging Het
Vmn2r93 A T 17: 18,525,220 (GRCm39) T293S probably damaging Het
Other mutations in Tomm70a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00849:Tomm70a APN 16 56,970,173 (GRCm39) splice site probably benign
IGL01064:Tomm70a APN 16 56,972,975 (GRCm39) missense probably damaging 0.99
IGL01597:Tomm70a APN 16 56,953,551 (GRCm39) missense probably benign 0.00
IGL02248:Tomm70a APN 16 56,958,465 (GRCm39) missense probably benign 0.33
IGL02560:Tomm70a APN 16 56,970,212 (GRCm39) missense probably benign 0.33
IGL03335:Tomm70a APN 16 56,970,289 (GRCm39) missense probably damaging 1.00
R0164:Tomm70a UTSW 16 56,968,184 (GRCm39) missense probably damaging 0.96
R0164:Tomm70a UTSW 16 56,968,184 (GRCm39) missense probably damaging 0.96
R0196:Tomm70a UTSW 16 56,966,463 (GRCm39) missense probably benign 0.03
R0417:Tomm70a UTSW 16 56,970,266 (GRCm39) missense probably benign 0.28
R0763:Tomm70a UTSW 16 56,942,535 (GRCm39) missense probably benign 0.30
R1099:Tomm70a UTSW 16 56,963,180 (GRCm39) missense probably damaging 1.00
R1680:Tomm70a UTSW 16 56,942,324 (GRCm39) missense unknown
R2081:Tomm70a UTSW 16 56,961,121 (GRCm39) missense probably damaging 0.99
R2127:Tomm70a UTSW 16 56,942,234 (GRCm39) missense unknown
R3033:Tomm70a UTSW 16 56,942,388 (GRCm39) missense probably damaging 1.00
R4287:Tomm70a UTSW 16 56,960,985 (GRCm39) missense probably damaging 1.00
R5029:Tomm70a UTSW 16 56,942,514 (GRCm39) missense probably benign
R5210:Tomm70a UTSW 16 56,953,614 (GRCm39) critical splice donor site probably null
R5214:Tomm70a UTSW 16 56,942,300 (GRCm39) missense unknown
R5586:Tomm70a UTSW 16 56,942,493 (GRCm39) missense probably damaging 1.00
R5744:Tomm70a UTSW 16 56,942,202 (GRCm39) start gained probably benign
R5872:Tomm70a UTSW 16 56,965,105 (GRCm39) missense probably benign 0.06
R6256:Tomm70a UTSW 16 56,973,055 (GRCm39) missense probably benign 0.05
R6699:Tomm70a UTSW 16 56,963,165 (GRCm39) missense probably benign 0.02
R6902:Tomm70a UTSW 16 56,958,444 (GRCm39) missense probably damaging 0.96
R7106:Tomm70a UTSW 16 56,961,121 (GRCm39) missense probably damaging 0.99
R7378:Tomm70a UTSW 16 56,966,407 (GRCm39) nonsense probably null
R7817:Tomm70a UTSW 16 56,965,136 (GRCm39) missense probably damaging 1.00
R8002:Tomm70a UTSW 16 56,957,097 (GRCm39) missense probably damaging 0.99
R8214:Tomm70a UTSW 16 56,942,330 (GRCm39) missense unknown
R8862:Tomm70a UTSW 16 56,942,546 (GRCm39) missense probably benign
R9194:Tomm70a UTSW 16 56,973,070 (GRCm39) missense possibly damaging 0.72
R9223:Tomm70a UTSW 16 56,963,166 (GRCm39) missense probably benign 0.00
R9242:Tomm70a UTSW 16 56,958,383 (GRCm39) splice site probably benign
R9338:Tomm70a UTSW 16 56,942,399 (GRCm39) missense probably benign
R9366:Tomm70a UTSW 16 56,970,259 (GRCm39) nonsense probably null
R9649:Tomm70a UTSW 16 56,961,072 (GRCm39) missense possibly damaging 0.93
Posted On 2016-08-02