Mutagenetix > Incidental Mutation

Incidental Mutation 'R0164:Tomm70a'

24381

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

038440-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R0164 (G1)

Quality Score

215

Status

Not validated

Chromosome

Chromosomal Location

56942077-56974893 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56968184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 517 (V517A)

Ref Sequence

ENSEMBL: ENSMUSP00000129186 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166897]

AlphaFold

Q9CZW5

Predicted Effect

probably damaging
Transcript: ENSMUST00000166897
AA Change: V517A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000129186
Gene: ENSMUSG00000022752
AA Change: V517A

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.1419

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

69% (18/26)

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
4930522L14Rik	T	C	5: 109,884,713 (GRCm39)	K382E	probably damaging	Het
Adck1	A	G	12: 88,422,280 (GRCm39)	E297G	probably damaging	Het
Aldh3a2	C	T	11: 61,139,714 (GRCm39)	V473I	probably benign	Het
Arfgef3	A	T	10: 18,523,663 (GRCm39)	I369K	possibly damaging	Het
Atp1b3	T	C	9: 96,220,762 (GRCm39)	I178V	possibly damaging	Het
Axdnd1	T	C	1: 156,205,956 (GRCm39)	E520G	possibly damaging	Het
BB019430	A	T	10: 58,540,093 (GRCm39)		noncoding transcript	Het
Btbd1	T	A	7: 81,450,751 (GRCm39)	Q343L	probably benign	Het
Catsper1	A	G	19: 5,389,503 (GRCm39)	T473A	possibly damaging	Het
Ccn4	T	C	15: 66,791,059 (GRCm39)	L287P	probably damaging	Het
Chmp6	G	A	11: 119,806,349 (GRCm39)		probably null	Het
Cstdc7	T	A	18: 42,306,608 (GRCm39)	D58E	probably damaging	Het
D130040H23Rik	T	C	8: 69,755,195 (GRCm39)	V200A	possibly damaging	Het
D830013O20Rik	C	T	12: 73,411,105 (GRCm39)		noncoding transcript	Het
Dcaf1	T	A	9: 106,721,344 (GRCm39)	S379T	possibly damaging	Het
Dhx58	T	C	11: 100,586,150 (GRCm39)	I624V	probably benign	Het
Disp3	T	C	4: 148,338,708 (GRCm39)	E821G	probably damaging	Het
Dlc1	T	A	8: 37,066,594 (GRCm39)	E464V	probably damaging	Het
Dnah10	G	A	5: 124,860,898 (GRCm39)	V2151I	probably damaging	Het
Dnah8	G	A	17: 30,967,639 (GRCm39)	G2617D	probably benign	Het
Dnah9	C	A	11: 65,809,630 (GRCm39)	E872*	probably null	Het
Dock9	T	C	14: 121,835,077 (GRCm39)	Y99C	probably damaging	Het
Dpy19l3	T	A	7: 35,416,071 (GRCm39)	I310F	probably damaging	Het
Fggy	A	T	4: 95,725,891 (GRCm39)	I137F	probably damaging	Het
Gm14012	C	T	2: 128,079,936 (GRCm39)		noncoding transcript	Het
Gm14421	A	T	2: 176,748,515 (GRCm39)		noncoding transcript	Het
Grin2a	A	G	16: 9,812,685 (GRCm39)		probably null	Het
Incenp	A	G	19: 9,872,243 (GRCm39)	S72P	probably benign	Het
Klc3	T	A	7: 19,128,851 (GRCm39)	N469Y	possibly damaging	Het
Lrrc42	A	G	4: 107,104,702 (GRCm39)	S88P	probably benign	Het
Lrrc49	G	A	9: 60,587,883 (GRCm39)	T93I	probably benign	Het
Mlycd	A	T	8: 120,134,380 (GRCm39)	Q294L	probably damaging	Het
Mrpl22	T	A	11: 58,062,647 (GRCm39)	I19N	probably benign	Het
Msh3	T	A	13: 92,485,717 (GRCm39)	K202N	probably damaging	Het
Mucl2	C	T	15: 103,929,445 (GRCm39)		probably null	Het
Ncam1	C	T	9: 49,479,709 (GRCm39)	D90N	probably damaging	Het
Nckap5	A	T	1: 125,952,144 (GRCm39)	D1405E	possibly damaging	Het
Ncoa2	A	G	1: 13,256,955 (GRCm39)		probably null	Het
Nlrp1b	A	T	11: 71,054,925 (GRCm39)	W844R	probably damaging	Het
Nmnat1	G	T	4: 149,553,607 (GRCm39)	N168K	possibly damaging	Het
Or5b96	A	G	19: 12,867,809 (GRCm39)	L44P	probably damaging	Het
Ost4	T	C	5: 31,064,803 (GRCm39)	H26R	probably damaging	Het
Otog	G	A	7: 45,953,655 (GRCm39)	V2638M	probably damaging	Het
Otogl	A	T	10: 107,710,391 (GRCm39)	I566N	probably damaging	Het
Pcyt1a	T	C	16: 32,289,004 (GRCm39)	S282P	probably damaging	Het
Prkcg	G	A	7: 3,377,635 (GRCm39)	E581K	probably damaging	Het
Ralgps2	A	G	1: 156,714,659 (GRCm39)		probably null	Het
Scmh1	T	C	4: 120,387,062 (GRCm39)		probably benign	Het
Sgo2b	T	C	8: 64,391,417 (GRCm39)	H150R	possibly damaging	Het
Sh2b3	T	G	5: 121,967,100 (GRCm39)	T5P	probably damaging	Het
Tdp2	A	G	13: 25,022,222 (GRCm39)	M214V	probably damaging	Het
Tmem204	A	G	17: 25,277,324 (GRCm39)	I187T	probably damaging	Het
Tmem208	T	G	8: 106,061,326 (GRCm39)	D117E	probably benign	Het
Tnks1bp1	C	T	2: 84,889,565 (GRCm39)	P631S	possibly damaging	Het
Ttc7	T	C	17: 87,687,323 (GRCm39)	V801A	probably damaging	Het
Txndc5	A	T	13: 38,691,929 (GRCm39)	C146S	probably damaging	Het
Ube4b	G	T	4: 149,444,781 (GRCm39)	T493K	probably damaging	Het
Ufl1	A	T	4: 25,256,008 (GRCm39)	Y504N	probably benign	Het
Ulk3	T	A	9: 57,497,969 (GRCm39)	I90N	probably damaging	Het
Unc13c	T	C	9: 73,602,174 (GRCm39)	I1357M	probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vmn2r91	A	C	17: 18,326,399 (GRCm39)	N228T	probably benign	Het
Zbtb6	G	T	2: 37,319,600 (GRCm39)	Y109*	probably null	Het
Zfp640	G	T	13: 66,819,062 (GRCm39)		noncoding transcript	Het
Zfp640	C	A	13: 66,819,038 (GRCm39)		noncoding transcript	Het
Zfp980	A	G	4: 145,428,567 (GRCm39)	D432G	probably benign	Het

Other mutations in Tomm70a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

Posted On

2013-04-16