Mutagenetix > Incidental Mutation

Incidental Mutation 'R9223:Tomm70a'

699622

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

068959-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R9223 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56942077-56974893 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56963166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 395 (M395K)

Ref Sequence

ENSEMBL: ENSMUSP00000129186 (fasta)

Gene Model

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

AlphaFold

Q9CZW5

Predicted Effect

probably benign
Transcript: ENSMUST00000166897
AA Change: M395K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000129186
Gene: ENSMUSG00000022752
AA Change: M395K

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: 100.0%
10x: 99.7%
20x: 99.0%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	C	A	9: 101,820,193 (GRCm39)	D204E	possibly damaging	Het
Aldh3a2	A	G	11: 61,156,037 (GRCm39)	S80P	probably benign	Het
Bcl6b	A	T	11: 70,117,400 (GRCm39)	Y407*	probably null	Het
Ccn2	T	C	10: 24,471,856 (GRCm39)	V49A	probably benign	Het
Cel	TTA	TTATA	2: 28,449,441 (GRCm39)		probably null	Het
Cerkl	A	T	2: 79,171,674 (GRCm39)	C395S	probably damaging	Het
Chst5	C	A	8: 112,617,492 (GRCm39)	V43L	probably benign	Het
Clip1	A	T	5: 123,784,337 (GRCm39)	F271I	probably damaging	Het
Clspn	A	G	4: 126,484,411 (GRCm39)	T1190A	possibly damaging	Het
Col20a1	A	T	2: 180,648,528 (GRCm39)	E938D	probably damaging	Het
Dmrta2	G	A	4: 109,839,779 (GRCm39)	V509M	probably damaging	Het
Dnah7b	T	A	1: 46,361,420 (GRCm39)	M3440K	probably benign	Het
Erlin1	A	G	19: 44,029,184 (GRCm39)		probably null	Het
Fam24b	A	G	7: 130,927,869 (GRCm39)	S107P	probably benign	Het
Fancm	T	A	12: 65,149,358 (GRCm39)	I708N	probably benign	Het
Fbxo11	A	T	17: 88,323,124 (GRCm39)	D12E		Het
Fbxw13	T	C	9: 109,024,116 (GRCm39)	D39G	probably damaging	Het
Gabrb3	T	G	7: 57,466,152 (GRCm39)	L322R	probably damaging	Het
Gm5239	A	T	18: 35,669,672 (GRCm39)	I13F	possibly damaging	Het
Heatr1	A	G	13: 12,419,802 (GRCm39)	Y375C	probably benign	Het
Helq	A	T	5: 100,946,303 (GRCm39)	S13T	possibly damaging	Het
Helz	A	G	11: 107,509,918 (GRCm39)	T514A	probably benign	Het
Hook3	A	G	8: 26,522,552 (GRCm39)	V32A		Het
Htra4	A	G	8: 25,527,048 (GRCm39)	I249T	possibly damaging	Het
Htt	G	T	5: 35,062,692 (GRCm39)	V2809L	probably benign	Het
Ifi203	T	A	1: 173,765,437 (GRCm39)	I46F	probably benign	Het
Kcna2	A	T	3: 107,012,306 (GRCm39)	I296F	possibly damaging	Het
Kndc1	A	G	7: 139,501,357 (GRCm39)	E882G	possibly damaging	Het
Krtap16-1	A	T	11: 99,876,071 (GRCm39)	D444E	probably benign	Het
Lrrtm3	ATTTT	ATTTTT	10: 63,925,035 (GRCm39)		probably null	Het
Mdga2	C	T	12: 66,615,634 (GRCm39)	D658N	possibly damaging	Het
Mkrn1	T	C	6: 39,378,183 (GRCm39)	K316R	possibly damaging	Het
Mmd2	C	T	5: 142,553,666 (GRCm39)	C165Y	probably damaging	Het
Mpdz	A	G	4: 81,202,867 (GRCm39)	F1843L	probably damaging	Het
Mrc2	G	A	11: 105,220,093 (GRCm39)	R338Q	probably damaging	Het
Naip5	C	T	13: 100,364,184 (GRCm39)	R372H	probably benign	Het
Nav2	C	A	7: 49,202,599 (GRCm39)	S1461Y	probably damaging	Het
Nol8	T	A	13: 49,814,738 (GRCm39)	V282D	possibly damaging	Het
Nup98	C	A	7: 101,834,167 (GRCm39)	G265V	possibly damaging	Het
Or1ak2	T	C	2: 36,827,911 (GRCm39)	F260S	probably damaging	Het
Or2d3b	A	G	7: 106,513,980 (GRCm39)	T192A	possibly damaging	Het
Or2h15	C	T	17: 38,442,012 (GRCm39)	E24K	possibly damaging	Het
Or4f58	T	A	2: 111,851,517 (GRCm39)	K227N	possibly damaging	Het
Or4f62	T	A	2: 111,986,473 (GRCm39)	M59K	possibly damaging	Het
Or8k18	G	T	2: 86,085,544 (GRCm39)	F164L	possibly damaging	Het
Otogl	T	A	10: 107,690,205 (GRCm39)	E888D	probably damaging	Het
Pcdhgc4	A	G	18: 37,948,685 (GRCm39)	I34V	possibly damaging	Het
Ppp1r12b	T	C	1: 134,807,376 (GRCm39)	R417G	probably benign	Het
Rtn4	A	G	11: 29,656,778 (GRCm39)	S311G	probably benign	Het
Serinc3	A	G	2: 163,478,812 (GRCm39)	V105A	probably benign	Het
Serpina3f	A	G	12: 104,183,444 (GRCm39)	D102G	possibly damaging	Het
Sik3	A	G	9: 46,066,772 (GRCm39)	I184V	probably damaging	Het
Spopfm2	A	C	3: 94,082,950 (GRCm39)	L287R	probably damaging	Het
Tex35	A	T	1: 156,935,436 (GRCm39)	C21S	probably benign	Het
Tfap2b	T	C	1: 19,282,649 (GRCm39)		probably null	Het
Thbs4	C	T	13: 92,897,998 (GRCm39)	C607Y	probably damaging	Het
Tmem144	A	T	3: 79,734,964 (GRCm39)	N151K	probably benign	Het
Trim43b	A	C	9: 88,967,663 (GRCm39)	H324Q	probably benign	Het
Vmn2r116	A	T	17: 23,620,141 (GRCm39)	Y625F	probably damaging	Het
Yipf3	A	T	17: 46,559,798 (GRCm39)	N38I	probably damaging	Het
Zfp804b	T	A	5: 6,821,496 (GRCm39)	E522D	probably benign	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
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
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'- TGCCCCGAAATCTGTAATAACC -3'
(R):5'- AGGCTAGCTGATTCGCTAACAC -3'

Sequencing Primer
(F):5'- CTCATTTTGGCTGTGTAGC -3'
(R):5'- CTTTAATCTCAGCACTCGGGAGG -3'

Posted On

2022-02-07