Mutagenetix > Incidental Mutation

Incidental Mutation 'R5165:Tomm40'

395649

Institutional Source

Beutler Lab

Gene Symbol

Tomm40

Ensembl Gene

ENSMUSG00000002984

Gene Name

translocase of outer mitochondrial membrane 40

Synonyms

Tom40

MMRRC Submission

042746-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5165 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19435238-19449363 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 19447592 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104090 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032555] [ENSMUST00000032555] [ENSMUST00000032555] [ENSMUST00000075447] [ENSMUST00000093552] [ENSMUST00000093552] [ENSMUST00000093552]

AlphaFold

Q9QYA2

Predicted Effect

probably null
Transcript: ENSMUST00000032555

SMART Domains

Protein: ENSMUSP00000032555
Gene: ENSMUSG00000002984

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

probably null
Transcript: ENSMUST00000032555

SMART Domains

Protein: ENSMUSP00000032555
Gene: ENSMUSG00000002984

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

probably null
Transcript: ENSMUST00000032555

SMART Domains

Protein: ENSMUSP00000032555
Gene: ENSMUSG00000002984

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

probably benign
Transcript: ENSMUST00000075447

SMART Domains

Protein: ENSMUSP00000074898
Gene: ENSMUSG00000062300

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
IGv	49	133	3.59e-14	SMART
IG_like	159	249	5.31e1	SMART
IG_like	261	338	8.12e1	SMART
transmembrane domain	351	373	N/A	INTRINSIC
low complexity region	455	478	N/A	INTRINSIC
low complexity region	486	496	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000093552

SMART Domains

Protein: ENSMUSP00000104090
Gene: ENSMUSG00000002984

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

Predicted Effect

probably null
Transcript: ENSMUST00000093552

SMART Domains

Protein: ENSMUSP00000104090
Gene: ENSMUSG00000002984

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

Predicted Effect

probably null
Transcript: ENSMUST00000093552

SMART Domains

Protein: ENSMUSP00000104090
Gene: ENSMUSG00000002984

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172483

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173966

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174476

Meta Mutation Damage Score

0.9499

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

98% (58/59)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actg2	T	A	6: 83,503,814 (GRCm39)	I77F	probably benign	Het
Actl6a	G	A	3: 32,774,357 (GRCm39)	V285I	probably benign	Het
Adam9	A	T	8: 25,457,190 (GRCm39)	I646N	possibly damaging	Het
Ahnak	T	C	19: 8,993,029 (GRCm39)	I4771T	possibly damaging	Het
Alas1	T	C	9: 106,118,454 (GRCm39)	T223A	probably damaging	Het
Apc2	A	G	10: 80,151,684 (GRCm39)	E2246G	probably damaging	Het
Atp1a1	A	G	3: 101,489,105 (GRCm39)	I795T	probably benign	Het
Ccn3	A	G	15: 54,612,585 (GRCm39)	D198G	probably damaging	Het
Cdhr4	T	C	9: 107,874,829 (GRCm39)	L633P	probably damaging	Het
Cep350	A	G	1: 155,804,114 (GRCm39)	S990P	probably damaging	Het
Cplx2	A	G	13: 54,526,789 (GRCm39)	I66V	possibly damaging	Het
Cx3cl1	T	C	8: 95,506,504 (GRCm39)	S170P	probably benign	Het
Cyth1	T	C	11: 118,059,908 (GRCm39)	N353S	possibly damaging	Het
Dapp1	T	C	3: 137,644,976 (GRCm39)		probably null	Het
Dmwd	G	A	7: 18,811,960 (GRCm39)		probably benign	Het
Dsg1c	A	G	18: 20,410,080 (GRCm39)	H516R	probably damaging	Het
Efemp2	T	C	19: 5,525,439 (GRCm39)	C39R	probably damaging	Het
Fnbp4	C	G	2: 90,608,001 (GRCm39)	Q908E	possibly damaging	Het
Foxred2	A	G	15: 77,840,212 (GRCm39)	V26A	probably damaging	Het
Gkap1	A	G	13: 58,411,010 (GRCm39)		probably null	Het
Gstcd	A	C	3: 132,790,440 (GRCm39)	V109G	probably damaging	Het
Hoxc9	T	A	15: 102,892,432 (GRCm39)	M215K	probably damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Kcnj9	A	T	1: 172,150,724 (GRCm39)	D296E	probably benign	Het
Kctd18	T	C	1: 57,998,395 (GRCm39)	Y68C	probably damaging	Het
Kif21a	A	T	15: 90,840,579 (GRCm39)	M1179K	probably benign	Het
Lrfn5	T	C	12: 61,886,410 (GRCm39)	I66T	possibly damaging	Het
Lrp12	A	G	15: 39,735,857 (GRCm39)	S692P	probably benign	Het
Lrrc10	A	T	10: 116,881,965 (GRCm39)	N213I	probably benign	Het
Nceh1	G	A	3: 27,295,677 (GRCm39)	V313I	probably benign	Het
Nkx6-3	T	A	8: 23,643,759 (GRCm39)	H53Q	probably damaging	Het
Ntmt2	A	G	1: 163,550,092 (GRCm39)	I53T	probably benign	Het
Or14j7	A	G	17: 38,235,252 (GRCm39)	D265G	probably benign	Het
Or2y16	A	G	11: 49,335,203 (GRCm39)	H175R	probably damaging	Het
Or4f53	T	A	2: 111,087,568 (GRCm39)	V36E	possibly damaging	Het
Or5b97	A	T	19: 12,878,564 (GRCm39)	N193K	probably benign	Het
Oxct1	A	T	15: 4,083,251 (GRCm39)	T157S	possibly damaging	Het
Pcdhga3	A	G	18: 37,808,723 (GRCm39)	E392G	possibly damaging	Het
Polr1a	T	G	6: 71,944,909 (GRCm39)	Y1322D	probably damaging	Het
Prkdc	T	A	16: 15,496,136 (GRCm39)	S776T	probably damaging	Het
Ralgapb	A	G	2: 158,307,832 (GRCm39)	I1047V	possibly damaging	Het
Sertad4	A	T	1: 192,529,130 (GRCm39)	S229T	possibly damaging	Het
Shank2	T	A	7: 143,963,373 (GRCm39)	V327D	possibly damaging	Het
Skint6	A	T	4: 112,722,865 (GRCm39)	V904E	possibly damaging	Het
Slfn8	A	T	11: 82,907,953 (GRCm39)	Y197N	probably damaging	Het
Smo	T	A	6: 29,736,077 (GRCm39)	L23Q	unknown	Het
Snx29	T	A	16: 11,238,639 (GRCm39)	M23K	probably damaging	Het
Synrg	T	C	11: 83,881,761 (GRCm39)	S366P	probably benign	Het
Tpcn1	T	C	5: 120,696,010 (GRCm39)	E81G	probably damaging	Het
Trappc1	A	G	11: 69,215,060 (GRCm39)	Q26R	probably benign	Het
Ttn	T	A	2: 76,606,900 (GRCm39)		probably null	Het
Usp25	T	A	16: 76,873,293 (GRCm39)	D450E	possibly damaging	Het
Zmynd19	T	A	2: 24,848,201 (GRCm39)	Y132*	probably null	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
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
R8709:Tomm40	UTSW	7	19,444,703 (GRCm39)	missense	possibly damaging	0.76
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'- AGGTCATCACTAAGTTGTCCC -3'
(R):5'- TGGATCCCTGGGCATTGATG -3'

Sequencing Primer
(F):5'- GGTCATCACTAAGTTGTCCCCAAAC -3'
(R):5'- TGCTAGTCGTGGCCTGACAC -3'

Posted On

2016-06-21