Mutagenetix > Incidental Mutations

Incidental Mutation 'R7106:Tomm70a'

551205

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

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R7106 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57121703-57156705 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57140758 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 358 (V358A)

Ref Sequence

ENSEMBL: ENSMUSP00000129186 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000166897
AA Change: V358A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129186
Gene: ENSMUSG00000022752
AA Change: V358A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (62/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldob	T	C	4: 49,541,258	Y138C	probably damaging	Het
Ano7	A	C	1: 93,374,983		probably null	Het
Arvcf	T	A	16: 18,399,049	V497E	probably damaging	Het
Atad2	A	G	15: 58,116,766		probably null	Het
Brinp1	C	T	4: 68,829,378	A163T	probably benign	Het
Catsperd	C	A	17: 56,658,070		probably null	Het
Ccm2l	A	G	2: 153,070,651	H70R	possibly damaging	Het
Cgnl1	G	A	9: 71,725,733	T112I	probably benign	Het
Chid1	T	C	7: 141,522,660	H220R	probably benign	Het
Clca1	A	G	3: 145,027,429	V106A	probably damaging	Het
Cldn23	A	C	8: 35,825,915	S140A	probably benign	Het
Dennd2c	T	C	3: 103,131,577	S14P	possibly damaging	Het
Det1	T	C	7: 78,843,464	D264G	probably damaging	Het
Dmwd	T	C	7: 19,080,529	V368A	probably damaging	Het
Dnah11	T	C	12: 117,961,149	K3362E	probably benign	Het
Dnah8	T	C	17: 30,741,178	F2208L	probably damaging	Het
Dnaja3	T	C	16: 4,705,934	I477T	probably benign	Het
Dnmt3a	A	G	12: 3,897,591	K482E	probably damaging	Het
Dock7	A	G	4: 98,967,326	I1493T	unknown	Het
Ehbp1l1	A	G	19: 5,718,737	V846A	probably benign	Het
Fbxl4	T	A	4: 22,427,140		probably null	Het
Fgd2	T	A	17: 29,376,970	L534*	probably null	Het
Fgfr3	T	C	5: 33,731,414	V349A	probably damaging	Het
Gal3st1	A	T	11: 3,998,509	I239F	probably damaging	Het
Gpatch3	C	A	4: 133,578,203	H250N	probably benign	Het
Guca1b	A	T	17: 47,391,311	K230*	probably null	Het
Itga3	G	T	11: 95,055,873	L737I	probably benign	Het
Kmt5c	A	G	7: 4,742,706	K122E	probably damaging	Het
Kpna4	G	A	3: 69,079,464	Q531*	probably null	Het
Lctl	A	G	9: 64,132,837	E410G	probably benign	Het
Lhx1	T	C	11: 84,522,077	N128D	probably benign	Het
Lifr	A	G	15: 7,172,924	N349D	probably benign	Het
Map2	G	A	1: 66,410,744	A209T	possibly damaging	Het
Mif4gd	G	A	11: 115,611,911	A25V	probably damaging	Het
Mug2	T	C	6: 122,082,721	S1353P	probably damaging	Het
Myh9	A	G	15: 77,775,121	C931R	probably benign	Het
Nelfe	T	G	17: 34,852,419		probably null	Het
Nrf1	A	G	6: 30,102,184	S161G	probably benign	Het
Pik3c2a	G	A	7: 116,418,133	Q130*	probably null	Het
Prex2	T	A	1: 11,136,793	M525K	probably benign	Het
Psme2	A	G	14: 55,588,237	S165P	probably benign	Het
Rapgef2	A	G	3: 79,066,608	F1477S	probably benign	Het
Rasef	A	T	4: 73,727,627	C502S	probably damaging	Het
Rpap2	T	A	5: 107,633,122	L565*	probably null	Het
Sav1	A	G	12: 69,984,616	I44T	probably damaging	Het
Selp	T	A	1: 164,126,422	I97N	probably benign	Het
Serpina1d	A	G	12: 103,765,721	F293S	probably benign	Het
Sin3b	T	C	8: 72,724,137	F65L	possibly damaging	Het
Sorcs3	G	C	19: 48,705,963	G559R	probably damaging	Het
Susd2	A	T	10: 75,638,053	D689E	probably damaging	Het
Tas1r2	A	T	4: 139,662,049	M448L	probably benign	Het
Tbc1d30	A	T	10: 121,301,992	I181N	possibly damaging	Het
Tcea3	A	G	4: 136,271,368	T318A	probably damaging	Het
Tpp1	A	C	7: 105,749,911	S153A	possibly damaging	Het
Trip13	C	T	13: 73,914,532	V387I	probably benign	Het
Ttn	T	C	2: 76,797,488	I14704V	probably benign	Het
Uimc1	C	A	13: 55,050,815	C516F	possibly damaging	Het
Vit	A	G	17: 78,586,799	N210S	probably benign	Het
Vmn1r22	G	T	6: 57,900,311	T227K	probably damaging	Het
Vmn2r5	A	G	3: 64,491,683	I625T	probably benign	Het
Zfp27	AATCCGCTTGTGCA	AA	7: 29,895,021		probably benign	Het
Zfp384	T	C	6: 125,024,259	L98P	probably benign	Het
Zfp809	G	T	9: 22,236,224	K51N	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCAAAGGTAGCAGGGTTTAGC -3'
(R):5'- CTGCTTCAGACTCACTGCAAC -3'

Sequencing Primer
(F):5'- CCAAAGGTAGCAGGGTTTAGCATTTG -3'
(R):5'- TTCAGACTCACTGCAACAATATTAC -3'

Posted On

2019-05-15