Mutagenetix > Incidental Mutation

Incidental Mutation 'R9338:Tomm70a'

707330

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.972) question?

Stock #

R9338 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57121703-57156705 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57122036 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 59 (M59V)

Ref Sequence

ENSEMBL: ENSMUSP00000129186 (fasta)

Gene Model

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

AlphaFold

Q9CZW5

Predicted Effect

probably benign
Transcript: ENSMUST00000166897
AA Change: M59V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129186
Gene: ENSMUSG00000022752
AA Change: M59V

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,090,113 (GRCm38)	T22A	possibly damaging	Het
Adam30	G	A	3: 98,162,813 (GRCm38)	G654D	probably damaging	Het
Cct3	T	C	3: 88,318,399 (GRCm38)	V343A	probably benign	Het
Col11a2	A	G	17: 34,047,230 (GRCm38)	T358A	unknown	Het
Cox6a2	T	C	7: 128,205,742 (GRCm38)	Y94C	probably damaging	Het
Cubn	T	A	2: 13,381,892 (GRCm38)	I1521F	probably damaging	Het
Dclk3	C	A	9: 111,439,305 (GRCm38)	A14E	unknown	Het
Dlgap2	T	C	8: 14,179,683 (GRCm38)		probably null	Het
Dopey2	C	A	16: 93,803,560 (GRCm38)	Q2042K	probably damaging	Het
Ech1	A	G	7: 28,826,002 (GRCm38)	S61G	probably null	Het
Ext2	T	A	2: 93,696,258 (GRCm38)	N678Y	probably damaging	Het
Fgfr2	G	T	7: 130,261,831 (GRCm38)	C28*	probably null	Het
Gm11487	T	C	4: 73,402,008 (GRCm38)	E178G	possibly damaging	Het
Gon4l	C	A	3: 88,901,712 (GRCm38)	D1754E	probably benign	Het
Hivep2	T	A	10: 14,128,949 (GRCm38)	C430*	probably null	Het
Htr7	C	T	19: 35,964,380 (GRCm38)		probably null	Het
Idh3b	A	T	2: 130,280,472 (GRCm38)	M331K	probably damaging	Het
Ighv2-7	A	T	12: 113,807,498 (GRCm38)	F56I	probably benign	Het
Inpp5k	C	T	11: 75,645,585 (GRCm38)	H330Y	probably damaging	Het
Kif26b	T	C	1: 178,916,493 (GRCm38)	Y1385H	probably damaging	Het
Mad1l1	A	G	5: 140,088,806 (GRCm38)	L543P	probably damaging	Het
Mdn1	A	T	4: 32,666,536 (GRCm38)	H158L	probably benign	Het
Mpp2	T	A	11: 102,060,423 (GRCm38)	T511S	probably benign	Het
Msh4	T	C	3: 153,867,807 (GRCm38)	I737V	possibly damaging	Het
Myo15b	T	C	11: 115,871,412 (GRCm38)	L1186P		Het
Nckap1l	A	G	15: 103,471,564 (GRCm38)	T346A	probably benign	Het
Nox4	G	A	7: 87,376,240 (GRCm38)	R525Q	probably benign	Het
Npy5r	T	C	8: 66,682,006 (GRCm38)	N45S	probably benign	Het
Olfr771	T	C	10: 129,160,741 (GRCm38)	N81S	probably benign	Het
Pde6a	G	A	18: 61,221,037 (GRCm38)	A145T	probably damaging	Het
Pfkp	A	C	13: 6,584,688 (GRCm38)	S678A	probably damaging	Het
Phxr2	A	G	10: 99,126,181 (GRCm38)		probably benign	Het
Pi4ka	C	A	16: 17,317,363 (GRCm38)	L942F		Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195 (GRCm38)		probably benign	Het
Pla2g4e	T	A	2: 120,189,433 (GRCm38)	T179S	probably benign	Het
Popdc2	G	A	16: 38,374,147 (GRCm38)	C310Y	probably benign	Het
Ppip5k1	C	T	2: 121,323,346 (GRCm38)	R113Q		Het
Prmt7	C	T	8: 106,235,033 (GRCm38)	R193C	unknown	Het
Prph	G	C	15: 99,057,478 (GRCm38)	R442P	probably damaging	Het
Prrc2b	A	G	2: 32,208,767 (GRCm38)	Y697C	probably damaging	Het
Ptprm	T	A	17: 66,762,148 (GRCm38)	R962S	probably damaging	Het
Raph1	A	G	1: 60,490,141 (GRCm38)	S654P	unknown	Het
Reln	A	G	5: 21,997,939 (GRCm38)	F1288L	probably damaging	Het
Rhot1	T	A	11: 80,254,742 (GRCm38)	I553N	probably benign	Het
Rnf168	T	C	16: 32,291,983 (GRCm38)		probably null	Het
Slamf6	T	A	1: 171,919,590 (GRCm38)		probably benign	Het
Srgap1	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	10: 121,853,553 (GRCm38)		probably benign	Het
Taf4b	C	T	18: 14,821,498 (GRCm38)	P544S	probably benign	Het
Tbc1d24	A	G	17: 24,208,403 (GRCm38)	V195A	probably benign	Het
Trip12	A	G	1: 84,749,298 (GRCm38)	S1184P	probably damaging	Het
Trrap	A	G	5: 144,791,115 (GRCm38)	S549G	probably benign	Het
Unc5d	T	A	8: 29,219,443 (GRCm38)		probably benign	Het
Ush2a	G	A	1: 188,576,292 (GRCm38)		probably null	Het
Usp45	T	C	4: 21,784,755 (GRCm38)	V147A	probably damaging	Het
Vmn2r77	T	A	7: 86,811,786 (GRCm38)	N773K	probably damaging	Het
Vps13c	A	T	9: 67,951,695 (GRCm38)	N2809I	probably damaging	Het
Yeats2	T	A	16: 20,213,328 (GRCm38)	S984R	possibly damaging	Het
Yeats2	T	A	16: 20,222,783 (GRCm38)	L1141Q	probably damaging	Het
Zfp58	T	A	13: 67,491,275 (GRCm38)	T366S	probably benign	Het

Other mutations in Tomm70a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00849:Tomm70a	APN	16	57,149,810 (GRCm38)	splice site	probably benign
IGL01064:Tomm70a	APN	16	57,152,612 (GRCm38)	missense	probably damaging	0.99
IGL01597:Tomm70a	APN	16	57,133,188 (GRCm38)	missense	probably benign	0.00
IGL02248:Tomm70a	APN	16	57,138,102 (GRCm38)	missense	probably benign	0.33
IGL02560:Tomm70a	APN	16	57,149,849 (GRCm38)	missense	probably benign	0.33
IGL03328:Tomm70a	APN	16	57,144,787 (GRCm38)	missense	probably damaging	0.99
IGL03335:Tomm70a	APN	16	57,149,926 (GRCm38)	missense	probably damaging	1.00
R0164:Tomm70a	UTSW	16	57,147,821 (GRCm38)	missense	probably damaging	0.96
R0164:Tomm70a	UTSW	16	57,147,821 (GRCm38)	missense	probably damaging	0.96
R0196:Tomm70a	UTSW	16	57,146,100 (GRCm38)	missense	probably benign	0.03
R0417:Tomm70a	UTSW	16	57,149,903 (GRCm38)	missense	probably benign	0.28
R0763:Tomm70a	UTSW	16	57,122,172 (GRCm38)	missense	probably benign	0.30
R1099:Tomm70a	UTSW	16	57,142,817 (GRCm38)	missense	probably damaging	1.00
R1680:Tomm70a	UTSW	16	57,121,961 (GRCm38)	missense	unknown
R2081:Tomm70a	UTSW	16	57,140,758 (GRCm38)	missense	probably damaging	0.99
R2127:Tomm70a	UTSW	16	57,121,871 (GRCm38)	missense	unknown
R3033:Tomm70a	UTSW	16	57,122,025 (GRCm38)	missense	probably damaging	1.00
R4287:Tomm70a	UTSW	16	57,140,622 (GRCm38)	missense	probably damaging	1.00
R5029:Tomm70a	UTSW	16	57,122,151 (GRCm38)	missense	probably benign
R5210:Tomm70a	UTSW	16	57,133,251 (GRCm38)	critical splice donor site	probably null
R5214:Tomm70a	UTSW	16	57,121,937 (GRCm38)	missense	unknown
R5586:Tomm70a	UTSW	16	57,122,130 (GRCm38)	missense	probably damaging	1.00
R5744:Tomm70a	UTSW	16	57,121,839 (GRCm38)	start gained	probably benign
R5872:Tomm70a	UTSW	16	57,144,742 (GRCm38)	missense	probably benign	0.06
R6256:Tomm70a	UTSW	16	57,152,692 (GRCm38)	missense	probably benign	0.05
R6699:Tomm70a	UTSW	16	57,142,802 (GRCm38)	missense	probably benign	0.02
R6902:Tomm70a	UTSW	16	57,138,081 (GRCm38)	missense	probably damaging	0.96
R7106:Tomm70a	UTSW	16	57,140,758 (GRCm38)	missense	probably damaging	0.99
R7378:Tomm70a	UTSW	16	57,146,044 (GRCm38)	nonsense	probably null
R7817:Tomm70a	UTSW	16	57,144,773 (GRCm38)	missense	probably damaging	1.00
R8002:Tomm70a	UTSW	16	57,136,734 (GRCm38)	missense	probably damaging	0.99
R8214:Tomm70a	UTSW	16	57,121,967 (GRCm38)	missense	unknown
R8862:Tomm70a	UTSW	16	57,122,183 (GRCm38)	missense	probably benign
R9194:Tomm70a	UTSW	16	57,152,707 (GRCm38)	missense	possibly damaging	0.72
R9223:Tomm70a	UTSW	16	57,142,803 (GRCm38)	missense	probably benign	0.00
R9242:Tomm70a	UTSW	16	57,138,020 (GRCm38)	splice site	probably benign
R9366:Tomm70a	UTSW	16	57,149,896 (GRCm38)	nonsense	probably null
R9649:Tomm70a	UTSW	16	57,140,709 (GRCm38)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- GTGGTTCTCCCCTGTACAGTAG -3'
(R):5'- GCTTCTCACCATTTCCAGGG -3'

Sequencing Primer
(F):5'- TCTCCCCTGTACAGTAGATAGGG -3'
(R):5'- ACCATTTCCAGGGAGTCCC -3'

Posted On

2022-04-18