Mutagenetix > Incidental Mutation

Incidental Mutation 'R1680:Tomm70a'

188452

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

039716-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R1680 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

57121703-57156705 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57121961 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 34 (S34P)

Ref Sequence

ENSEMBL: ENSMUSP00000129186 (fasta)

Gene Model

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

AlphaFold

Q9CZW5

Predicted Effect

unknown
Transcript: ENSMUST00000166897
AA Change: S34P

SMART Domains

Protein: ENSMUSP00000129186
Gene: ENSMUSG00000022752
AA Change: S34P

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	C	G	10: 100,603,528	P187R	probably damaging	Het
Ahnak	T	A	19: 9,009,963	H2870Q	probably benign	Het
Arhgef33	C	T	17: 80,347,651	S95F	probably damaging	Het
Atp1a2	T	A	1: 172,278,954	D827V	probably damaging	Het
Bcat1	T	G	6: 145,039,628	D96A	probably damaging	Het
Birc6	A	T	17: 74,548,746	I184L	probably benign	Het
Ccdc129	C	T	6: 55,968,766	T824I	probably damaging	Het
Clca3b	A	T	3: 144,837,824	L415M	probably damaging	Het
Clstn1	T	C	4: 149,643,726	V617A	probably benign	Het
Col22a1	G	A	15: 71,799,361	A1050V	unknown	Het
Col5a3	C	T	9: 20,784,668		probably null	Het
Csmd3	G	A	15: 47,741,170	T1059I	probably damaging	Het
Dclk2	C	T	3: 86,805,639	R503Q	possibly damaging	Het
Dnm3	A	G	1: 162,010,976	V272A	probably benign	Het
Dnmt3a	A	G	12: 3,873,361	Q187R	probably damaging	Het
Dpp9	A	G	17: 56,190,103	Y710H	probably benign	Het
Eef1a2	A	T	2: 181,152,941	M155K	possibly damaging	Het
Entpd8	G	A	2: 25,084,024	C331Y	probably damaging	Het
Erc1	A	C	6: 119,575,761	L1072R	probably damaging	Het
Fam160b2	T	C	14: 70,586,851	Y482C	probably damaging	Het
Gtf3c2	A	G	5: 31,173,868	S155P	probably damaging	Het
Gucy2c	A	G	6: 136,722,493	S617P	probably damaging	Het
Ice1	T	C	13: 70,605,448	R840G	probably benign	Het
Il1rl2	T	C	1: 40,351,793	Y299H	possibly damaging	Het
Ints7	T	G	1: 191,621,162		probably null	Het
Ireb2	C	T	9: 54,881,518	T92I	probably damaging	Het
Kcnj8	A	T	6: 142,570,189	L64*	probably null	Het
Mapk8ip3	A	G	17: 24,901,011	V983A	probably damaging	Het
Mertk	A	G	2: 128,801,636	D985G	probably benign	Het
Mical3	A	T	6: 120,959,643	S1307R	probably benign	Het
Ncaph2	A	G	15: 89,364,622	D222G	probably benign	Het
Nf1	C	A	11: 79,550,998	S295*	probably null	Het
Nlrp12	T	A	7: 3,241,174	D236V	probably damaging	Het
Npnt	A	G	3: 132,906,802	V74A	probably benign	Het
Oasl1	A	G	5: 114,935,944	D304G	probably damaging	Het
Olfr1098	C	T	2: 86,923,161	V124I	probably benign	Het
Olfr556	A	G	7: 102,670,733	D271G	possibly damaging	Het
Olfr834	A	G	9: 18,988,516	H176R	possibly damaging	Het
Olfr936	T	C	9: 39,047,000	I140V	probably benign	Het
Patz1	A	G	11: 3,307,812	K604E	probably damaging	Het
Pcsk6	T	A	7: 66,035,250	V793E	probably benign	Het
Pla2g4d	C	T	2: 120,277,750		probably null	Het
Plxnc1	A	C	10: 94,841,551	L938R	probably benign	Het
Pou4f2	G	T	8: 78,434,831	A381D	probably damaging	Het
Prdm4	A	G	10: 85,899,223	L685P	possibly damaging	Het
Pxn	T	A	5: 115,552,147	V383E	probably damaging	Het
Rbl1	A	G	2: 157,174,783	L632P	probably damaging	Het
Rnf135	T	A	11: 80,196,881	S219T	possibly damaging	Het
Sdk2	T	C	11: 113,791,436	D2039G	possibly damaging	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Slc5a6	A	G	5: 31,042,644	Y131H	probably damaging	Het
Slc9a1	T	C	4: 133,418,080	I492T	probably damaging	Het
Soga3	A	T	10: 29,196,839	Q709L	probably damaging	Het
Spag5	A	G	11: 78,320,616	K993E	probably damaging	Het
Sptbn1	T	G	11: 30,159,371	I75L	possibly damaging	Het
Syngap1	T	C	17: 26,952,579	S46P	possibly damaging	Het
Tfcp2l1	T	A	1: 118,675,605	F458I	probably damaging	Het
Tmem67	A	G	4: 12,087,840	V102A	probably benign	Het
Txlnb	G	T	10: 17,843,233	G604V	probably benign	Het
Ube2q1	A	G	3: 89,776,176	T143A	probably benign	Het
Unc80	C	T	1: 66,503,669	R361*	probably null	Het
Vcan	T	C	13: 89,703,547	D1098G	probably benign	Het
Vmn1r176	T	A	7: 23,835,381	T116S	probably damaging	Het
Wdr81	C	T	11: 75,454,423	R6K	probably benign	Het
Zan	T	A	5: 137,403,050	T4136S	unknown	Het
Zbtb14	C	A	17: 69,388,502	F398L	probably damaging	Het
Zfp606	A	T	7: 12,493,971	H615L	probably damaging	Het
Zp3r	A	T	1: 130,582,880	N433K	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
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
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'- ATTCTAGGCAACCGCCTGCAAG -3'
(R):5'- AAAAGCTGCATCCGCTCGTTTTC -3'

Sequencing Primer
(F):5'- CTTCTGACCCCGGAAGTG -3'
(R):5'- ATTTCCAGGGAGTCCCCAG -3'

Posted On

2014-05-09