Mutagenetix > Incidental Mutation

Incidental Mutation 'R0417:Tomm70a'

40438

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

038619-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R0417 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56942077-56974893 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56970266 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 548 (D548G)

Ref Sequence

ENSEMBL: ENSMUSP00000129186 (fasta)

Gene Model

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

AlphaFold

Q9CZW5

Predicted Effect

probably benign
Transcript: ENSMUST00000166897
AA Change: D548G

PolyPhen 2 Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000129186
Gene: ENSMUSG00000022752
AA Change: D548G

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: ENSMUST00000231901

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 73,199,244 (GRCm39)	K217R	probably damaging	Het
1810024B03Rik	A	G	2: 127,028,864 (GRCm39)	Y112H	probably damaging	Het
Acot2	T	C	12: 84,037,387 (GRCm39)	Y234H	probably benign	Het
Alox12e	C	T	11: 70,212,691 (GRCm39)	V53I	probably benign	Het
Ankrd50	T	C	3: 38,510,510 (GRCm39)	H619R	probably damaging	Het
Arfgef3	A	T	10: 18,479,259 (GRCm39)	L1452Q	probably damaging	Het
Arhgap42	T	C	9: 9,180,034 (GRCm39)	S82G	possibly damaging	Het
Arhgef18	T	C	8: 3,438,957 (GRCm39)		probably benign	Het
Bicra	C	A	7: 15,706,247 (GRCm39)	R1398L	probably damaging	Het
Boc	T	C	16: 44,340,597 (GRCm39)	T118A	probably benign	Het
Btnl9	A	G	11: 49,066,422 (GRCm39)	Y381H	probably damaging	Het
Cbln3	T	G	14: 56,121,586 (GRCm39)	E20A	probably benign	Het
Cdc42ep5	A	G	7: 4,154,482 (GRCm39)	L102P	probably damaging	Het
Csrnp3	A	G	2: 65,849,887 (GRCm39)	Y171C	probably benign	Het
Cyp2d9	A	T	15: 82,340,152 (GRCm39)	I181F	probably damaging	Het
Cyp7b1	T	A	3: 18,150,855 (GRCm39)	T295S	probably damaging	Het
Dbn1	C	T	13: 55,622,729 (GRCm39)	E585K	probably damaging	Het
Dok1	A	T	6: 83,008,550 (GRCm39)	D377E	probably damaging	Het
Eed	A	T	7: 89,620,760 (GRCm39)	Y87*	probably null	Het
Entpd3	T	C	9: 120,386,487 (GRCm39)	V156A	probably damaging	Het
Exo5	T	A	4: 120,779,269 (GRCm39)	T199S	probably damaging	Het
Extl2	T	C	3: 115,818,006 (GRCm39)	I106T	probably benign	Het
Ezh2	A	G	6: 47,528,660 (GRCm39)	C291R	probably benign	Het
Flvcr1	A	T	1: 190,743,416 (GRCm39)	M466K	probably benign	Het
Fras1	G	T	5: 96,839,231 (GRCm39)	M1583I	probably benign	Het
Fzd9	G	T	5: 135,278,473 (GRCm39)	R471S	probably damaging	Het
Galr1	A	T	18: 82,423,665 (GRCm39)	F204Y	probably damaging	Het
Gna11	A	T	10: 81,366,738 (GRCm39)	I324N	probably damaging	Het
Gucy1a2	A	G	9: 3,759,484 (GRCm39)	E430G	possibly damaging	Het
Hhatl	C	T	9: 121,617,828 (GRCm39)	A254T	probably benign	Het
Ikzf1	A	C	11: 11,719,352 (GRCm39)	N353T	probably benign	Het
Il7	T	A	3: 7,641,087 (GRCm39)	T110S	probably damaging	Het
Keg1	A	G	19: 12,688,424 (GRCm39)	N53D	probably damaging	Het
Klhl21	T	C	4: 152,099,964 (GRCm39)	I558T	probably damaging	Het
Lca5l	G	A	16: 95,963,853 (GRCm39)	T357M	probably damaging	Het
Lrba	T	C	3: 86,622,961 (GRCm39)	S2448P	probably damaging	Het
Map3k6	T	A	4: 132,975,393 (GRCm39)	Y709*	probably null	Het
Megf6	A	G	4: 154,352,424 (GRCm39)	E1261G	probably benign	Het
Mettl3	C	T	14: 52,534,155 (GRCm39)	G473D	probably damaging	Het
Mga	A	G	2: 119,733,271 (GRCm39)	I40V	probably damaging	Het
Mmp13	T	A	9: 7,276,602 (GRCm39)	D232E	probably benign	Het
Nampt	T	C	12: 32,883,100 (GRCm39)	V95A	probably benign	Het
Nbeal1	T	C	1: 60,286,893 (GRCm39)	V905A	probably benign	Het
Nomo1	A	T	7: 45,718,122 (GRCm39)	E840V	possibly damaging	Het
Nprl2	A	T	9: 107,420,497 (GRCm39)	I101F	probably damaging	Het
Nup160	A	T	2: 90,565,771 (GRCm39)	I1378F	possibly damaging	Het
Ogdhl	T	C	14: 32,048,936 (GRCm39)	S69P	probably damaging	Het
Or2y17	T	A	11: 49,231,500 (GRCm39)	I47N	possibly damaging	Het
Or4a68	C	A	2: 89,270,519 (GRCm39)	V35L	possibly damaging	Het
Or4k77	A	G	2: 111,199,450 (GRCm39)	S158G	possibly damaging	Het
Or5be3	A	T	2: 86,863,789 (GRCm39)	Y259N	probably damaging	Het
Or8b12i	G	A	9: 20,082,510 (GRCm39)	A119V	probably damaging	Het
Or8c16	A	G	9: 38,130,751 (GRCm39)	I211V	probably benign	Het
Or8c8	T	C	9: 38,165,160 (GRCm39)	F149S	probably benign	Het
Osbpl3	C	T	6: 50,324,998 (GRCm39)	V167I	probably benign	Het
Pclo	T	A	5: 14,763,036 (GRCm39)	H3836Q	unknown	Het
Prkcg	A	T	7: 3,352,820 (GRCm39)		probably null	Het
Ror1	A	T	4: 100,269,197 (GRCm39)	H345L	possibly damaging	Het
Slc36a2	C	T	11: 55,072,370 (GRCm39)		probably null	Het
Slc40a1	G	A	1: 45,950,534 (GRCm39)	P306L	possibly damaging	Het
Slc9a8	C	A	2: 167,299,264 (GRCm39)	T239K	probably benign	Het
Snapc3	A	G	4: 83,368,399 (GRCm39)	I299V	probably benign	Het
Sp3	G	A	2: 72,801,845 (GRCm39)	A56V	possibly damaging	Het
Spag17	T	A	3: 99,972,870 (GRCm39)	S1361T	probably benign	Het
Sptbn2	A	G	19: 4,787,954 (GRCm39)	T978A	probably benign	Het
Stom	C	A	2: 35,211,644 (GRCm39)	V126F	probably damaging	Het
Stpg2	A	G	3: 138,924,082 (GRCm39)	T162A	probably damaging	Het
Stxbp6	G	A	12: 44,949,740 (GRCm39)	T63M	probably damaging	Het
Tatdn1	A	C	15: 58,793,199 (GRCm39)	I69S	probably benign	Het
Tbata	A	T	10: 61,016,118 (GRCm39)	D198V	probably damaging	Het
Tbc1d5	T	C	17: 51,063,733 (GRCm39)	I638V	probably benign	Het
Ust	A	G	10: 8,121,700 (GRCm39)	F303L	probably damaging	Het
Vps13d	A	G	4: 144,703,130 (GRCm39)	S4306P	probably benign	Het
Zbed6	A	T	1: 133,586,276 (GRCm39)	S354T	probably benign	Het
Zfp691	A	G	4: 119,027,693 (GRCm39)	S180P	possibly damaging	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
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
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

PCR Primer
(F):5'- AAATCAGCCAGTGCCACTAGCATAG -3'
(R):5'- GGGAAGCCTGCATCAAAAGTACAGC -3'

Sequencing Primer
(F):5'- ACCAGAAGCCTTCAGTGTG -3'
(R):5'- CAAAAGTACAGCAAGCTTTAAAACTG -3'

Posted On

2013-05-23