Mutagenetix > Incidental Mutation

Incidental Mutation 'R8709:Tomm40'

669434

Institutional Source

Beutler Lab

Gene Symbol

Tomm40

Ensembl Gene

ENSMUSG00000002984

Gene Name

translocase of outer mitochondrial membrane 40

Synonyms

Tom40

MMRRC Submission

068563-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8709 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19435238-19449363 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19444703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 200 (T200A)

Ref Sequence

ENSEMBL: ENSMUSP00000032555 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032555] [ENSMUST00000093552]

AlphaFold

Q9QYA2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032555
AA Change: T200A

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000032555
Gene: ENSMUSG00000002984
AA Change: T200A

Domain	Start	End	E-Value	Type
low complexity region	8	69	N/A	INTRINSIC
Pfam:Porin_3	79	355	7.7e-85	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093552
AA Change: T200A

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104090
Gene: ENSMUSG00000002984
AA Change: T200A

Domain	Start	End	E-Value	Type
low complexity region	8	69	N/A	INTRINSIC
Pfam:Porin_3	79	355	1.5e-81	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (55/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is localized in the outer membrane of the mitochondria. It is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is essential for import of protein precursors into mitochondria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	A	G	4: 124,504,316 (GRCm39)	S79P	unknown	Het
Aadacl4fm2	C	G	4: 144,281,863 (GRCm39)	A310P	probably damaging	Het
Adamts20	T	A	15: 94,238,947 (GRCm39)	D757V	probably damaging	Het
Adamts9	C	T	6: 92,784,144 (GRCm39)	G1570D	probably damaging	Het
Adamtsl3	A	G	7: 82,077,642 (GRCm39)	Y109C	possibly damaging	Het
Agl	G	A	3: 116,566,121 (GRCm39)	R335C		Het
Ankfy1	C	A	11: 72,646,532 (GRCm39)	T805K	possibly damaging	Het
Cast	A	T	13: 74,892,780 (GRCm39)	V96E	probably damaging	Het
Cdh17	G	T	4: 11,795,685 (GRCm39)	E422*	probably null	Het
Cox4i1	T	A	8: 121,396,110 (GRCm39)	L21H	possibly damaging	Het
Cwc22	T	C	2: 77,726,694 (GRCm39)	E795G	probably benign	Het
Cwf19l2	C	A	9: 3,430,723 (GRCm39)	Q352K	probably benign	Het
Cyp2d9	T	C	15: 82,339,276 (GRCm39)	V226A	probably benign	Het
Dnah12	A	G	14: 26,414,757 (GRCm39)	I53V	probably benign	Het
Dnah7a	T	C	1: 53,674,476 (GRCm39)	I434V	probably benign	Het
Dock8	C	T	19: 25,055,448 (GRCm39)	Q137*	probably null	Het
Eif4b	T	G	15: 102,002,116 (GRCm39)	V515G	unknown	Het
Far2	T	A	6: 148,067,133 (GRCm39)	N339K	probably benign	Het
Gpr22	T	C	12: 31,759,829 (GRCm39)	T98A	probably damaging	Het
Hamp2	A	G	7: 30,621,974 (GRCm39)	C72R	probably damaging	Het
Hmgn1	G	A	16: 95,928,540 (GRCm39)	P16S	possibly damaging	Het
Hspd1	A	G	1: 55,120,922 (GRCm39)	S256P	probably benign	Het
Iqcn	T	C	8: 71,162,372 (GRCm39)	C522R	possibly damaging	Het
Iqgap2	T	C	13: 95,796,713 (GRCm39)	H1147R	probably damaging	Het
Itgb1	T	A	8: 129,439,887 (GRCm39)		probably benign	Het
Klhl29	A	T	12: 5,140,681 (GRCm39)	W654R	probably damaging	Het
Krtap22-2	T	A	16: 88,807,514 (GRCm39)	Y28F	unknown	Het
Lcp2	T	A	11: 34,004,354 (GRCm39)		probably benign	Het
Muc5ac	T	G	7: 141,370,663 (GRCm39)	L3225R	possibly damaging	Het
Myom3	A	G	4: 135,523,607 (GRCm39)	E908G	possibly damaging	Het
Nup54	A	G	5: 92,570,267 (GRCm39)		probably benign	Het
Or1p1	T	A	11: 74,180,054 (GRCm39)	I194N	possibly damaging	Het
Or4a74	C	T	2: 89,440,366 (GRCm39)	V27I	probably benign	Het
Or51af1	T	C	7: 103,141,519 (GRCm39)	T189A	probably benign	Het
Or5ae1	T	A	7: 84,565,671 (GRCm39)	I228N	probably damaging	Het
Pak4	A	C	7: 28,261,969 (GRCm39)	D453E	probably benign	Het
Pkd1l1	T	C	11: 8,805,567 (GRCm39)	T2120A		Het
Pkhd1l1	T	A	15: 44,381,570 (GRCm39)	S1099T	probably benign	Het
Pld2	C	T	11: 70,444,275 (GRCm39)	R524W	probably damaging	Het
Polr1a	T	A	6: 71,951,832 (GRCm39)	D1466E	probably benign	Het
Pxdn	C	T	12: 30,056,601 (GRCm39)	L1271F	probably damaging	Het
Rp1l1	A	C	14: 64,269,295 (GRCm39)	D1627A	probably damaging	Het
Sephs1	T	C	2: 4,889,402 (GRCm39)	V60A	probably benign	Het
Sipa1	C	T	19: 5,710,980 (GRCm39)	R10Q	probably damaging	Het
Sp4	T	C	12: 118,263,189 (GRCm39)	T286A	possibly damaging	Het
Spag5	T	A	11: 78,192,738 (GRCm39)	S23R	probably benign	Het
Spag9	T	A	11: 93,958,916 (GRCm39)	N313K	probably benign	Het
Stag1	T	A	9: 100,772,975 (GRCm39)		probably benign	Het
Stkld1	T	A	2: 26,835,817 (GRCm39)	H217Q	probably benign	Het
Stxbp2	T	A	8: 3,683,914 (GRCm39)	F104I	possibly damaging	Het
Tcf12	A	G	9: 71,765,787 (GRCm39)	V575A	possibly damaging	Het
Tcf12	A	T	9: 71,830,069 (GRCm39)	S131T	probably benign	Het
Tg	T	A	15: 66,553,786 (GRCm39)	S400R	probably benign	Het
Trio	T	C	15: 27,919,323 (GRCm39)	E71G	unknown	Het
Zfp292	A	T	4: 34,805,982 (GRCm39)	V2359E	probably damaging	Het

Other mutations in Tomm40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01712:Tomm40	APN	7	19,437,288 (GRCm39)	missense	probably benign	0.13
IGL01766:Tomm40	APN	7	19,437,007 (GRCm39)	missense	possibly damaging	0.93
IGL02831:Tomm40	APN	7	19,437,014 (GRCm39)	missense	probably damaging	1.00
IGL03178:Tomm40	APN	7	19,435,759 (GRCm39)	missense	probably damaging	0.98
PIT4131001:Tomm40	UTSW	7	19,437,016 (GRCm39)	missense	probably damaging	1.00
R0280:Tomm40	UTSW	7	19,447,676 (GRCm39)	missense	probably damaging	1.00
R1842:Tomm40	UTSW	7	19,447,650 (GRCm39)	missense	probably benign	0.41
R1913:Tomm40	UTSW	7	19,444,886 (GRCm39)	missense	probably damaging	0.98
R3702:Tomm40	UTSW	7	19,447,598 (GRCm39)	missense	possibly damaging	0.89
R4685:Tomm40	UTSW	7	19,435,761 (GRCm39)	missense	probably benign	0.06
R5165:Tomm40	UTSW	7	19,447,592 (GRCm39)	critical splice donor site	probably null
R5380:Tomm40	UTSW	7	19,435,675 (GRCm39)	missense	probably benign	0.27
R6026:Tomm40	UTSW	7	19,444,889 (GRCm39)	missense	probably benign	0.43
R6236:Tomm40	UTSW	7	19,437,281 (GRCm39)	missense	probably benign	0.15
R6994:Tomm40	UTSW	7	19,436,831 (GRCm39)	missense	probably damaging	0.98
R7206:Tomm40	UTSW	7	19,444,861 (GRCm39)	missense	probably benign	0.10
R7530:Tomm40	UTSW	7	19,436,829 (GRCm39)	missense	possibly damaging	0.82
R8419:Tomm40	UTSW	7	19,435,759 (GRCm39)	missense	probably damaging	0.98
R8698:Tomm40	UTSW	7	19,444,890 (GRCm39)	missense	probably benign	0.00
R9525:Tomm40	UTSW	7	19,436,812 (GRCm39)	missense	probably damaging	1.00
Z1176:Tomm40	UTSW	7	19,437,019 (GRCm39)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- GCCTTTCATTTGCTCCTGTGAAT -3'
(R):5'- CAGGCCTCAGGTCCAAAAT -3'

Sequencing Primer
(F):5'- ACAAGCTTGTGGCAGCAC -3'
(R):5'- TGGCCATCCAGGTGAGTCTG -3'

Posted On

2021-04-30