Mutagenetix > Incidental Mutations

Incidental Mutation 'R4287:Tomm70a'

322075

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

041652-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R4287 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57121703-57156705 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 57140622 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 313 (Y313D)

Ref Sequence

ENSEMBL: ENSMUSP00000129186 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000166897
AA Change: Y313D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129186
Gene: ENSMUSG00000022752
AA Change: Y313D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231298

Meta Mutation Damage Score

0.412

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (40/41)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc5	A	G	5: 122,800,601	V362A	probably benign	Het
Ash1l	T	A	3: 89,066,415	C2594S	probably damaging	Het
Ccdc82	C	A	9: 13,253,418	Q303K	probably benign	Het
Cog1	A	G	11: 113,654,027	Y345C	probably damaging	Het
Fpgt	T	C	3: 155,091,360		probably benign	Het
Glrb	A	T	3: 80,845,232	V408D	possibly damaging	Het
Gm7135	A	G	1: 97,400,398		noncoding transcript	Het
Il1rn	T	C	2: 24,349,545	L151P	probably damaging	Het
Itgav	G	T	2: 83,724,840	E36*	probably null	Het
Kidins220	G	A	12: 25,056,846	E1433K	possibly damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Klra3	A	G	6: 130,334,302	C39R	probably benign	Het
Lce1i	A	G	3: 92,777,435	S145P	unknown	Het
Memo1	T	C	17: 74,255,298		probably null	Het
Mpp3	G	A	11: 102,023,463	A102V	probably damaging	Het
Mug2	T	A	6: 122,063,673	D727E	probably benign	Het
Ndufb8	T	C	19: 44,552,691	I107V	probably benign	Het
Olfr186	A	T	16: 59,027,613	M98K	probably benign	Het
Pnn	C	T	12: 59,072,170	T513I	possibly damaging	Het
Ric8a	A	G	7: 140,861,422	Y210C	probably damaging	Het
Ripor2	G	A	13: 24,725,009	V1037M	probably damaging	Het
Rreb1	A	T	13: 37,931,931	T1089S	probably benign	Het
Rrs1	C	T	1: 9,546,215	S231L	probably damaging	Het
Rrs1	C	T	1: 9,546,223	R234C	possibly damaging	Het
Sec23ip	A	G	7: 128,777,333	D838G	probably benign	Het
Setbp1	T	C	18: 78,859,061	I464V	probably benign	Het
Slc25a51	C	T	4: 45,399,768	V141M	probably benign	Het
Slc41a3	A	T	6: 90,640,922	H310L	probably benign	Het
Smurf1	A	G	5: 144,891,458	S363P	probably benign	Het
Tln1	C	T	4: 43,543,509	R1269Q	probably benign	Het
Tmed3	A	G	9: 89,704,898	S10P	probably benign	Het
Umodl1	A	G	17: 30,988,065	E810G	probably benign	Het
Unc5c	T	C	3: 141,714,674	I52T	probably damaging	Het
Unc5d	T	A	8: 28,719,796	Y432F	probably benign	Het
Vmn2r97	A	T	17: 18,948,075		probably benign	Het
Zfp629	T	C	7: 127,611,938	Y233C	probably damaging	Het
Zfp986	T	C	4: 145,892,518		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- GCAGTTTAATCTCTAACCCCAGTTC -3'
(R):5'- GCCAAAGTAACCATGGTCCC -3'

Sequencing Primer
(F):5'- AATCTCTAACCCCAGTTCCAGTC -3'
(R):5'- AGTAACCATGGTCCCGTTCTAAC -3'

Posted On

2015-06-20