Mutagenetix > Incidental Mutation

Incidental Mutation 'R5586:Tomm70a'

438769

Institutional Source

Beutler Lab

Gene Symbol

Tomm70a

Ensembl Gene

ENSMUSG00000022752

Gene Name

translocase of outer mitochondrial membrane 70A

Synonyms

Tomm70a, D16Wsu109e, D16Ium22e, Tom70, 2610044B22Rik, D16Ium22

MMRRC Submission

043140-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R5586 (G1)

Quality Score

155

Status

Validated

Chromosome

Chromosomal Location

57121703-57156705 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57122130 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 90 (E90G)

Ref Sequence

ENSEMBL: ENSMUSP00000129186 (fasta)

Gene Model

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

AlphaFold

Q9CZW5

Predicted Effect

probably damaging
Transcript: ENSMUST00000166897
AA Change: E90G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129186
Gene: ENSMUSG00000022752
AA Change: E90G

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

0.1013

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

Validation Efficiency

98% (101/103)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	G	7: 29,577,728		noncoding transcript	Het
Aaas	A	T	15: 102,346,676		probably null	Het
Abcc3	G	A	11: 94,364,421	R600W	probably damaging	Het
Abhd13	A	T	8: 9,988,318	Q305L	probably benign	Het
Adcy5	A	T	16: 35,157,116	I340F	probably damaging	Het
Adgrl3	T	A	5: 81,724,147	I964N	probably damaging	Het
Anks1b	T	A	10: 90,077,064	H316Q	probably damaging	Het
Ap3d1	A	T	10: 80,719,130	F454I	possibly damaging	Het
Apol7c	T	C	15: 77,526,399	R116G	possibly damaging	Het
Arhgap5	A	G	12: 52,519,912	E1222G	possibly damaging	Het
AW551984	A	G	9: 39,591,263	V673A	probably benign	Het
Baiap2l1	A	G	5: 144,282,139	S220P	probably damaging	Het
Bcl6	A	G	16: 23,973,176	F143L	probably benign	Het
Calb1	A	T	4: 15,900,811	T165S	probably benign	Het
Ccdc66	C	A	14: 27,506,711	G6C	probably damaging	Het
Ccdc88a	A	G	11: 29,503,484	I344V	probably benign	Het
Cdh19	T	A	1: 110,929,857	D249V	probably damaging	Het
Ces1c	T	A	8: 93,127,599	T103S	probably benign	Het
Cfap54	T	A	10: 92,972,611	K1401*	probably null	Het
Copa	T	A	1: 172,105,222	N371K	probably damaging	Het
Cyp2b10	A	T	7: 25,917,012	Y348F	probably damaging	Het
Dennd5a	T	C	7: 109,905,721	R861G	possibly damaging	Het
Dhx8	T	C	11: 101,733,036		probably benign	Het
Dido1	C	T	2: 180,659,652	W2153*	probably null	Het
Dlgap1	T	A	17: 70,818,161	V969D	probably damaging	Het
Dvl3	A	G	16: 20,517,289	D32G	probably damaging	Het
Epdr1	T	C	13: 19,594,548	D24G	probably benign	Het
Etnk2	T	A	1: 133,379,305		probably null	Het
Fam129a	C	T	1: 151,717,556	T664I	probably benign	Het
Fhad1	C	T	4: 141,905,131	M1232I	probably benign	Het
Gcnt2	A	C	13: 40,860,953	E200A	probably damaging	Het
Gm12800	T	A	4: 101,910,120	F189I	probably benign	Het
Gm5174	A	G	10: 86,656,545		noncoding transcript	Het
Gm6408	T	A	5: 146,484,457	F299I	possibly damaging	Het
Gpr85	G	T	6: 13,836,001	Y301*	probably null	Het
Gucy2e	G	T	11: 69,226,256	P780T	probably damaging	Het
Icam5	A	T	9: 21,034,820	N316I	probably damaging	Het
Ifit1bl1	C	T	19: 34,594,277	R260Q	probably damaging	Het
Il1r1	A	C	1: 40,225,251		probably benign	Het
Kif3c	A	T	12: 3,389,656	I86F	probably benign	Het
Klhdc2	A	G	12: 69,307,693		probably null	Het
Mast2	A	G	4: 116,435,563	L9P	probably damaging	Het
Mcoln1	G	T	8: 3,510,389	C316F	probably damaging	Het
Mon1a	A	T	9: 107,898,695	D4V	probably damaging	Het
Ms4a18	T	A	19: 11,013,674	M19L	probably benign	Het
Nbea	T	C	3: 55,631,971	K2790E	probably benign	Het
Noc3l	C	T	19: 38,814,695	E167K	possibly damaging	Het
Nol10	G	A	12: 17,416,828	E570K	possibly damaging	Het
Nr2e3	T	C	9: 59,949,201	R69G	probably damaging	Het
Obscn	G	A	11: 59,001,468	R1358*	probably null	Het
Olfr115	A	T	17: 37,610,254	F166I	probably damaging	Het
Olfr1472	A	T	19: 13,454,382	M45K	probably benign	Het
Olfr1535	C	A	13: 21,555,096	V309F	probably damaging	Het
Olfr675	A	G	7: 105,024,221	I253T	probably damaging	Het
Pak2	A	T	16: 32,041,519	D175E	probably benign	Het
Pccb	C	T	9: 100,985,803	V357I	possibly damaging	Het
Pcdhb4	C	T	18: 37,308,981	P448L	probably damaging	Het
Pcdhb9	A	G	18: 37,401,114	M54V	probably benign	Het
Ppp3cb	A	G	14: 20,520,690		probably benign	Het
Ppp4r1	A	G	17: 65,824,568	D452G	probably benign	Het
Prmt3	T	A	7: 49,826,751	D369E	probably damaging	Het
Psmd12	T	A	11: 107,486,475	V120D	probably benign	Het
Ptprb	T	C	10: 116,353,827	L1797P	probably damaging	Het
Ptprm	A	G	17: 66,920,196	S653P	probably damaging	Het
Pxdn	T	A	12: 30,003,142	V926D	probably damaging	Het
Retreg3	T	G	11: 101,106,339	Q105P	probably damaging	Het
Sacs	A	T	14: 61,206,441	R1979*	probably null	Het
Scn2a	T	A	2: 65,707,295	L696*	probably null	Het
Sema3c	A	T	5: 17,711,424	N465Y	probably damaging	Het
Slc25a32	A	T	15: 39,099,913	V171E	possibly damaging	Het
Slc30a7	C	T	3: 115,990,051	V158I	probably benign	Het
Slc44a5	G	A	3: 154,270,165		probably benign	Het
Slc4a8	A	G	15: 100,787,164	D140G	probably damaging	Het
Slc7a11	G	A	3: 50,443,083	S60L	possibly damaging	Het
Spryd3	A	T	15: 102,131,937	H59Q	probably benign	Het
Sqstm1	T	C	11: 50,203,022	D256G	probably damaging	Het
Sst	A	T	16: 23,889,737	S115T	probably damaging	Het
Surf1	T	C	2: 26,915,951		probably benign	Het
Synj1	A	T	16: 91,009,977		probably benign	Het
Tet1	C	A	10: 62,878,294	C574F	probably damaging	Het
Thnsl1	T	A	2: 21,212,390	Y318*	probably null	Het
Tmem110	A	G	14: 30,870,819	K166E	probably damaging	Het
Treml4	A	G	17: 48,264,899	D110G	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Txnl1	C	T	18: 63,664,325	G283D	probably damaging	Het
Uba6	T	C	5: 86,135,047	D559G	probably damaging	Het
Usp4	T	C	9: 108,356,462	V94A	possibly damaging	Het
Vmn2r25	A	C	6: 123,825,296	C549W	probably damaging	Het
Vmn2r59	G	T	7: 42,045,681	Q436K	probably benign	Het
Wdr70	A	T	15: 7,884,288	Y627N	possibly damaging	Het
Xpr1	T	C	1: 155,312,863	I344V	probably benign	Het
Zfp423	T	A	8: 87,859,340	Q61L	possibly damaging	Het

Other mutations in Tomm70a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02248:Tomm70a	APN	16	57138102	missense	probably benign	0.33
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
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
R8214:Tomm70a	UTSW	16	57121967	missense	unknown
R8862:Tomm70a	UTSW	16	57122183	missense	probably benign
R9194:Tomm70a	UTSW	16	57152707	missense	possibly damaging	0.72
R9223:Tomm70a	UTSW	16	57142803	missense	probably benign	0.00
R9242:Tomm70a	UTSW	16	57138020	splice site	probably benign
R9338:Tomm70a	UTSW	16	57122036	missense	probably benign
R9366:Tomm70a	UTSW	16	57149896	nonsense	probably null
R9649:Tomm70a	UTSW	16	57140709	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- CCGGTTCTGGAAATGGAGTG -3'
(R):5'- TGCTATTCCATTCCCTATAAAGGCAAC -3'

Sequencing Primer
(F):5'- TCTGGAAATGGAGTGGGCGG -3'
(R):5'- TTCCCTATAAAGGCAACCAGAAACG -3'

Posted On

2016-10-26