Mutagenetix > Incidental Mutation

Incidental Mutation 'R0196:Tomm70a'

23468

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

038455-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R0196 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56942077-56974893 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56966463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 472 (I472T)

Ref Sequence

ENSEMBL: ENSMUSP00000129186 (fasta)

Gene Model

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

AlphaFold

Q9CZW5

Predicted Effect

probably benign
Transcript: ENSMUST00000166897
AA Change: I472T

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000129186
Gene: ENSMUSG00000022752
AA Change: I472T

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: 98.8%
3x: 97.7%
10x: 93.8%
20x: 81.8%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	G	2: 68,446,591 (GRCm39)		probably benign	Het
Aass	G	A	6: 23,109,519 (GRCm39)	P317L	probably damaging	Het
Abca12	T	A	1: 71,298,972 (GRCm39)	N2313I	possibly damaging	Het
Adamts12	T	C	15: 11,071,594 (GRCm39)	I46T	probably benign	Het
Adipoq	T	G	16: 22,965,393 (GRCm39)		probably null	Het
Amy1	A	T	3: 113,363,070 (GRCm39)	D92E	probably benign	Het
Asb15	G	A	6: 24,564,392 (GRCm39)	R282Q	probably damaging	Het
Bag6	G	C	17: 35,363,239 (GRCm39)	G693A	probably damaging	Het
Birc6	T	C	17: 74,887,282 (GRCm39)	I870T	possibly damaging	Het
Cand2	A	G	6: 115,766,463 (GRCm39)	K356R	probably damaging	Het
Cbfa2t3	T	C	8: 123,360,076 (GRCm39)	Q525R	possibly damaging	Het
Cd4	T	C	6: 124,844,769 (GRCm39)	R339G	probably damaging	Het
Cdh8	A	G	8: 99,917,066 (GRCm39)	S350P	probably damaging	Het
Cep295	A	T	9: 15,249,509 (GRCm39)	S469T	probably damaging	Het
Ckap2l	A	T	2: 129,127,342 (GRCm39)	S279T	probably benign	Het
Clnk	T	A	5: 38,927,282 (GRCm39)	N66Y	probably damaging	Het
Col27a1	A	T	4: 63,142,503 (GRCm39)	T64S	probably benign	Het
Crtc1	T	C	8: 70,838,871 (GRCm39)	D599G	probably damaging	Het
Cyp2c23	A	C	19: 44,000,795 (GRCm39)	I363S	probably damaging	Het
Dnah10	A	T	5: 124,911,139 (GRCm39)	I4519F	possibly damaging	Het
Dner	T	A	1: 84,348,553 (GRCm39)	I716F	probably damaging	Het
Dsel	T	G	1: 111,789,333 (GRCm39)	T401P	possibly damaging	Het
Egfr	A	G	11: 16,861,746 (GRCm39)	D1175G	probably benign	Het
Ephb3	A	T	16: 21,036,804 (GRCm39)	N343I	probably damaging	Het
Fbxw10	T	A	11: 62,768,070 (GRCm39)	F974I	probably benign	Het
Gfi1b	T	C	2: 28,503,786 (GRCm39)	Y138C	probably damaging	Het
Gm11168	T	A	9: 3,005,175 (GRCm39)	L6H	probably benign	Het
Grb10	A	C	11: 11,895,583 (GRCm39)	V247G	probably damaging	Het
Gstp2	A	T	19: 4,090,514 (GRCm39)		probably null	Het
Hars2	C	T	18: 36,922,257 (GRCm39)	Q291*	probably null	Het
Hyal4	G	T	6: 24,756,220 (GRCm39)	W146L	probably damaging	Het
Il22ra1	C	T	4: 135,461,556 (GRCm39)	T107I	possibly damaging	Het
Itga8	A	G	2: 12,209,540 (GRCm39)		probably null	Het
Klhl25	T	C	7: 75,515,450 (GRCm39)	S119P	probably damaging	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lrrc8c	T	C	5: 105,754,636 (GRCm39)	V137A	probably benign	Het
Macrod2	A	T	2: 142,018,545 (GRCm39)	E226V	probably damaging	Het
Mcemp1	A	T	8: 3,718,201 (GRCm39)	Q165L	probably benign	Het
Mcpt9	T	A	14: 56,265,453 (GRCm39)	K82M	probably benign	Het
Mpzl3	A	G	9: 44,973,458 (GRCm39)	T66A	probably damaging	Het
Msh6	G	A	17: 88,287,788 (GRCm39)	V143I	possibly damaging	Het
Mug1	G	A	6: 121,815,684 (GRCm39)		probably null	Het
Ncr1	G	T	7: 4,343,972 (GRCm39)	C153F	probably damaging	Het
Nf1	T	A	11: 79,359,595 (GRCm39)	M1411K	possibly damaging	Het
Nf1	T	A	11: 79,469,098 (GRCm39)	V786D	probably damaging	Het
Nisch	T	C	14: 30,925,351 (GRCm39)		probably benign	Het
Nwd2	T	A	5: 63,963,694 (GRCm39)	Y1093N	probably benign	Het
Oas3	G	A	5: 120,894,210 (GRCm39)	R39C	probably damaging	Het
Or1e32	A	T	11: 73,705,731 (GRCm39)	M59K	probably damaging	Het
Or7a36	C	T	10: 78,820,023 (GRCm39)	T133I	possibly damaging	Het
Oxa1l	T	C	14: 54,600,944 (GRCm39)	I139T	probably damaging	Het
P3h3	T	A	6: 124,822,235 (GRCm39)	N583Y	probably damaging	Het
Pcdh18	A	T	3: 49,711,147 (GRCm39)		probably null	Het
Pcnp	C	T	16: 55,844,896 (GRCm39)		probably benign	Het
Pdzd8	G	T	19: 59,289,563 (GRCm39)	D612E	probably benign	Het
Pi4kb	T	C	3: 94,906,261 (GRCm39)	S8P	probably damaging	Het
Pikfyve	T	G	1: 65,295,231 (GRCm39)	V1454G	possibly damaging	Het
Podn	T	C	4: 107,878,695 (GRCm39)	N246D	probably damaging	Het
Prg4	T	C	1: 150,330,243 (GRCm39)		probably benign	Het
R3hdm2	T	C	10: 127,320,390 (GRCm39)	Y523H	probably damaging	Het
Rpf1	T	A	3: 146,213,904 (GRCm39)	E231V	possibly damaging	Het
Slc16a10	C	T	10: 39,932,611 (GRCm39)	E317K	probably benign	Het
Slc34a1	A	T	13: 55,560,078 (GRCm39)	I435F	probably damaging	Het
Snx19	A	G	9: 30,344,683 (GRCm39)	D629G	probably damaging	Het
Trp53	A	G	11: 69,479,506 (GRCm39)	Y202C	probably damaging	Het
Ttc14	T	A	3: 33,863,403 (GRCm39)		probably benign	Het
Ugt1a1	C	T	1: 88,140,277 (GRCm39)	A185V	possibly damaging	Het
Usp28	A	G	9: 48,939,578 (GRCm39)	D655G	probably damaging	Het
Vmn1r215	C	T	13: 23,260,254 (GRCm39)	T98I	probably damaging	Het
Vmn2r121	G	T	X: 123,041,879 (GRCm39)	T426N	probably benign	Het
Vmn2r99	A	G	17: 19,614,835 (GRCm39)	N852D	probably benign	Het
Xrn2	T	A	2: 146,889,580 (GRCm39)	D654E	probably damaging	Het
Yju2	C	A	17: 56,271,653 (GRCm39)	D191E	probably damaging	Het
Zfp335	C	G	2: 164,738,065 (GRCm39)	A849P	possibly damaging	Het
Zfp954	C	T	7: 7,118,390 (GRCm39)	V385M	probably damaging	Het
Zmynd15	A	G	11: 70,355,052 (GRCm39)	T350A	probably 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
R0417:Tomm70a	UTSW	16	56,970,266 (GRCm39)	missense	probably benign	0.28
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'- AGTAGGTAATCGGCTCTTCTGAAAATGC -3'
(R):5'- GGAGTCTAGCAAAGCTGGCAAAACTTTA -3'

Sequencing Primer
(F):5'- agcgggtaagagcactaac -3'
(R):5'- aatgtcagccaaacttacacag -3'

Posted On

2013-04-16