Incidental Mutation 'R8214:Tomm70a'
ID 636331
Institutional Source Beutler Lab
Gene Symbol Tomm70a
Ensembl Gene ENSMUSG00000022752
Gene Name translocase of outer mitochondrial membrane 70A
Synonyms D16Ium22e, Tom70, 2610044B22Rik, Tomm70a, D16Wsu109e, D16Ium22
MMRRC Submission 067656-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # R8214 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 56942077-56974893 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 56942330 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 36 (A36S)
Ref Sequence ENSEMBL: ENSMUSP00000129186 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166897]
AlphaFold Q9CZW5
Predicted Effect unknown
Transcript: ENSMUST00000166897
AA Change: A36S
SMART Domains Protein: ENSMUSP00000129186
Gene: ENSMUSG00000022752
AA Change: A36S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (42/42)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik G A 11: 58,177,447 (GRCm39) R52Q Het
Abcc3 C T 11: 94,254,344 (GRCm39) R718H probably damaging Het
Abcc4 T C 14: 118,738,253 (GRCm39) M1166V probably benign Het
Abhd16b C T 2: 181,135,983 (GRCm39) T295I probably damaging Het
Amph A G 13: 19,288,468 (GRCm39) N319S possibly damaging Het
Ankrd27 A G 7: 35,313,944 (GRCm39) D425G probably damaging Het
Atg4b T C 1: 93,712,609 (GRCm39) S316P probably damaging Het
Brd4 A G 17: 32,431,921 (GRCm39) S649P probably benign Het
Bzw1 T C 1: 58,444,196 (GRCm39) S411P probably damaging Het
Carmil1 T C 13: 24,228,215 (GRCm39) E987G probably damaging Het
Dnah6 T C 6: 73,021,711 (GRCm39) D3537G probably damaging Het
Dnpep A T 1: 75,292,642 (GRCm39) W126R probably damaging Het
Efcab2 T C 1: 178,265,015 (GRCm39) V27A probably benign Het
Kctd21 T C 7: 96,996,548 (GRCm39) L7P probably damaging Het
Kidins220 C T 12: 25,044,854 (GRCm39) T216I probably damaging Het
Lpl T A 8: 69,345,257 (GRCm39) M87K probably damaging Het
Ltn1 A G 16: 87,177,691 (GRCm39) V1646A probably benign Het
Madcam1 A G 10: 79,502,592 (GRCm39) T359A probably benign Het
Muc5ac A G 7: 141,356,685 (GRCm39) K1092E possibly damaging Het
Nrg2 T C 18: 36,329,729 (GRCm39) E162G probably benign Het
Or10ak11 A T 4: 118,687,288 (GRCm39) F117L probably benign Het
Or52e2 A C 7: 102,804,613 (GRCm39) S114A probably damaging Het
Or5p54 T A 7: 107,554,174 (GRCm39) S109T probably benign Het
Pcdhb5 G T 18: 37,454,636 (GRCm39) V339L probably benign Het
Plec A G 15: 76,076,484 (GRCm39) W145R unknown Het
Polr3f A G 2: 144,378,230 (GRCm39) N201D probably benign Het
Skint5 T C 4: 113,662,139 (GRCm39) probably null Het
Slc12a2 A G 18: 58,070,791 (GRCm39) I1048V probably benign Het
Sult2a4 A G 7: 13,723,401 (GRCm39) I39T probably benign Het
Tenm4 T C 7: 96,544,614 (GRCm39) V2247A probably damaging Het
Tg C T 15: 66,645,247 (GRCm39) R2385C probably damaging Het
Top2b G A 14: 16,383,177 (GRCm38) R55H probably damaging Het
Tut4 A G 4: 108,369,347 (GRCm39) I636V probably benign Het
Unc45b A G 11: 82,824,714 (GRCm39) I629M possibly damaging Het
Vmn1r16 T C 6: 57,300,424 (GRCm39) E66G noncoding transcript Het
Vmn1r189 C T 13: 22,286,301 (GRCm39) V179I probably benign Het
Vmn2r105 T G 17: 20,448,775 (GRCm39) E134A probably benign Het
Wdr70 G A 15: 7,916,851 (GRCm39) A522V probably benign Het
Zfp184 T A 13: 22,142,995 (GRCm39) C234S probably damaging Het
Zscan5b C T 7: 6,236,946 (GRCm39) P232S possibly 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
IGL03328:Tomm70a APN 16 56,965,150 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- TCTCCCCTGTACAGTAGATAGGG -3'
(R):5'- TCACCATTTCCAGGGAGTCC -3'

Sequencing Primer
(F):5'- GCTCCTGCTGCTTAGCGTG -3'
(R):5'- AGTCCCCAGAACCGTCGTG -3'
Posted On 2020-07-13