Incidental Mutation 'IGL02248:Tomm70a'
ID286280
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tomm70a
Ensembl Gene ENSMUSG00000022752
Gene Nametranslocase of outer mitochondrial membrane 70A
SynonymsTomm70a, D16Wsu109e, D16Ium22e, Tom70, 2610044B22Rik, D16Ium22
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.969) question?
Stock #IGL02248
Quality Score
Status
Chromosome16
Chromosomal Location57121703-57156705 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 57138102 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 273 (S273T)
Ref Sequence ENSEMBL: ENSMUSP00000129186 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166897]
Predicted Effect probably benign
Transcript: ENSMUST00000166897
AA Change: S273T

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000129186
Gene: ENSMUSG00000022752
AA Change: S273T

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 36,969,290 probably null Het
Ajap1 A T 4: 153,432,111 S258T possibly damaging Het
Ap1g1 A G 8: 109,863,433 probably benign Het
B4galnt4 T C 7: 141,067,808 probably benign Het
Btnl9 T C 11: 49,180,798 D66G probably benign Het
Casp1 T A 9: 5,299,452 H60Q probably benign Het
Clec4n T G 6: 123,230,568 S30R probably damaging Het
Col22a1 A G 15: 71,799,448 L1021P unknown Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Fbxw7 A G 3: 84,903,633 N22D possibly damaging Het
Frrs1l T A 4: 56,968,272 N167Y probably damaging Het
Fsip2 T A 2: 82,982,772 I3145K possibly damaging Het
Gcc1 G T 6: 28,418,514 R607S probably damaging Het
Gm14443 A T 2: 175,170,314 I113K probably benign Het
Ica1 T C 6: 8,758,387 probably benign Het
Igkv4-69 T A 6: 69,284,321 probably benign Het
Igkv9-120 G T 6: 68,050,237 C45F probably damaging Het
Lrp2 T C 2: 69,482,808 Y2483C probably damaging Het
Lrpprc A G 17: 84,771,467 L273S probably damaging Het
Myh9 A T 15: 77,786,614 L476Q probably damaging Het
Nab2 T C 10: 127,663,240 I390V probably benign Het
Notch4 A T 17: 34,587,198 D1756V probably damaging Het
Nup54 T C 5: 92,428,329 probably null Het
Olfr1085 A T 2: 86,657,717 V247E probably damaging Het
Olfr295 T A 7: 86,586,104 Y276* probably null Het
Reln T C 5: 21,910,992 Y3006C probably damaging Het
Rpe65 T A 3: 159,624,705 L503Q probably damaging Het
Serinc5 A G 13: 92,706,140 D366G probably damaging Het
Slain1 A G 14: 103,685,777 D102G probably damaging Het
Smo A T 6: 29,757,292 I469F possibly damaging Het
Trak1 G T 9: 121,446,794 V281L probably damaging Het
Trib2 T C 12: 15,793,966 N225S possibly damaging Het
Vmn2r23 A T 6: 123,741,744 K685N probably damaging Het
Zcchc4 T A 5: 52,796,076 H142Q probably damaging Het
Zfp521 T C 18: 13,844,246 I1037V possibly damaging Het
Other mutations in Tomm70a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00849:Tomm70a APN 16 57149810 splice site probably benign
IGL01064:Tomm70a APN 16 57152612 missense probably damaging 0.99
IGL01597:Tomm70a APN 16 57133188 missense probably benign 0.00
IGL02560:Tomm70a APN 16 57149849 missense probably benign 0.33
IGL03328:Tomm70a APN 16 57144787 missense probably damaging 0.99
IGL03335:Tomm70a APN 16 57149926 missense probably damaging 1.00
R0164:Tomm70a UTSW 16 57147821 missense probably damaging 0.96
R0164:Tomm70a UTSW 16 57147821 missense probably damaging 0.96
R0196:Tomm70a UTSW 16 57146100 missense probably benign 0.03
R0417:Tomm70a UTSW 16 57149903 missense probably benign 0.28
R0763:Tomm70a UTSW 16 57122172 missense probably benign 0.30
R1099:Tomm70a UTSW 16 57142817 missense probably damaging 1.00
R1680:Tomm70a UTSW 16 57121961 missense unknown
R2081:Tomm70a UTSW 16 57140758 missense probably damaging 0.99
R2127:Tomm70a UTSW 16 57121871 missense unknown
R3033:Tomm70a UTSW 16 57122025 missense probably damaging 1.00
R4287:Tomm70a UTSW 16 57140622 missense probably damaging 1.00
R5029:Tomm70a UTSW 16 57122151 missense probably benign
R5210:Tomm70a UTSW 16 57133251 critical splice donor site probably null
R5214:Tomm70a UTSW 16 57121937 missense unknown
R5586:Tomm70a UTSW 16 57122130 missense probably damaging 1.00
R5744:Tomm70a UTSW 16 57121839 start gained probably benign
R5872:Tomm70a UTSW 16 57144742 missense probably benign 0.06
R6256:Tomm70a UTSW 16 57152692 missense probably benign 0.05
R6699:Tomm70a UTSW 16 57142802 missense probably benign 0.02
R6902:Tomm70a UTSW 16 57138081 missense probably damaging 0.96
R7106:Tomm70a UTSW 16 57140758 missense probably damaging 0.99
R7378:Tomm70a UTSW 16 57146044 nonsense probably null
R7817:Tomm70a UTSW 16 57144773 missense probably damaging 1.00
R8002:Tomm70a UTSW 16 57136734 missense probably damaging 0.99
Posted On2015-04-16