Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01766:Tomm40'

153666

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tomm40

Ensembl Gene

ENSMUSG00000002984

Gene Name

translocase of outer mitochondrial membrane 40

Synonyms

Tom40

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01766

Quality Score

Status

Chromosome

Chromosomal Location

19435238-19449363 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19437007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 20 (H20R)

Ref Sequence

ENSEMBL: ENSMUSP00000133975 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003066] [ENSMUST00000032555] [ENSMUST00000093552] [ENSMUST00000172705] [ENSMUST00000172808] [ENSMUST00000172983] [ENSMUST00000174191] [ENSMUST00000174064] [ENSMUST00000173739] [ENSMUST00000174144] [ENSMUST00000174355] [ENSMUST00000174710]

AlphaFold

Q9QYA2

Predicted Effect

probably benign
Transcript: ENSMUST00000003066

SMART Domains

Protein: ENSMUSP00000003066
Gene: ENSMUSG00000002985

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Apolipoprotein	72	291	3.8e-65	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032555
AA Change: H276R

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000032555
Gene: ENSMUSG00000002984
AA Change: H276R

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: H276R

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104090
Gene: ENSMUSG00000002984
AA Change: H276R

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: ENSMUST00000167646

SMART Domains

Protein: ENSMUSP00000132032
Gene: ENSMUSG00000002985

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Apolipoprotein	72	201	1.9e-46	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172705
AA Change: H20R

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133975
Gene: ENSMUSG00000002984
AA Change: H20R

Domain	Start	End	E-Value	Type
Pfam:Porin_3	1	61	3.9e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172808

SMART Domains

Protein: ENSMUSP00000134558
Gene: ENSMUSG00000002985

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
Pfam:Apolipoprotein	61	146	8.5e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172983

SMART Domains

Protein: ENSMUSP00000133359
Gene: ENSMUSG00000002985

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Apolipoprotein	72	232	1.3e-48	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174476

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208286

Predicted Effect

probably benign
Transcript: ENSMUST00000174191

SMART Domains

Protein: ENSMUSP00000133447
Gene: ENSMUSG00000002985

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
PDB:1YA9\|A	20	70	8e-31	PDB
SCOP:d1nfn__	34	70	5e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174064

SMART Domains

Protein: ENSMUSP00000133302
Gene: ENSMUSG00000002985

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Apolipoprotein	73	284	2e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173739

SMART Domains

Protein: ENSMUSP00000133371
Gene: ENSMUSG00000002985

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Apolipoprotein	72	291	3.8e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174144

SMART Domains

Protein: ENSMUSP00000134622
Gene: ENSMUSG00000002985

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Apolipoprotein	72	232	1.3e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174355

SMART Domains

Protein: ENSMUSP00000134160
Gene: ENSMUSG00000002985

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Apolipoprotein	72	291	3.8e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174710

SMART Domains

Protein: ENSMUSP00000134429
Gene: ENSMUSG00000002985

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
PDB:1YA9\|A	20	70	8e-31	PDB
SCOP:d1nfn__	34	70	5e-9	SMART

Coding Region Coverage

Validation Efficiency

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	G	10: 29,100,557 (GRCm39)	D310G	probably benign	Het
Ahnak	A	G	19: 8,977,482 (GRCm39)	T7A	unknown	Het
Arhgap21	T	A	2: 20,854,448 (GRCm39)	D1648V	possibly damaging	Het
Cd274	T	C	19: 29,362,810 (GRCm39)	*291Q	probably null	Het
Ceacam1	G	A	7: 25,171,420 (GRCm39)	S348L	probably damaging	Het
Dcaf13	T	C	15: 38,982,145 (GRCm39)	V37A	probably benign	Het
Degs1	A	T	1: 182,106,660 (GRCm39)	F200I	probably damaging	Het
Dock4	G	T	12: 40,496,378 (GRCm39)	E8*	probably null	Het
Dsc2	G	A	18: 20,179,399 (GRCm39)	P223L	possibly damaging	Het
Exo1	A	G	1: 175,719,587 (GRCm39)	T171A	possibly damaging	Het
Gen1	C	T	12: 11,306,895 (GRCm39)	D92N	probably damaging	Het
Gm572	A	T	4: 148,739,352 (GRCm39)	H60L	possibly damaging	Het
Gucy2c	T	C	6: 136,692,971 (GRCm39)	T719A	probably benign	Het
Heatr5a	T	C	12: 51,936,447 (GRCm39)	S1575G	probably benign	Het
Hspa12a	T	C	19: 58,787,899 (GRCm39)	E641G	probably damaging	Het
Itgb4	G	A	11: 115,879,752 (GRCm39)	V635I	probably damaging	Het
Luzp1	T	C	4: 136,270,084 (GRCm39)	I769T	possibly damaging	Het
Map2k5	C	T	9: 63,284,509 (GRCm39)	A11T	probably benign	Het
Myo9b	A	G	8: 71,743,161 (GRCm39)	E74G	probably damaging	Het
Myom1	T	C	17: 71,384,283 (GRCm39)	V666A	probably damaging	Het
Or1e29	T	A	11: 73,667,901 (GRCm39)	N84I	probably benign	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Or5ak4	A	G	2: 85,161,945 (GRCm39)	L99S	probably benign	Het
Or6c69	A	G	10: 129,747,649 (GRCm39)	F166S	probably damaging	Het
Plekhg1	A	G	10: 3,823,400 (GRCm39)	T123A	probably damaging	Het
Polrmt	T	C	10: 79,572,402 (GRCm39)	E1077G	possibly damaging	Het
Ptprh	A	G	7: 4,583,915 (GRCm39)	W226R	probably benign	Het
Robo1	A	G	16: 72,801,553 (GRCm39)	H1059R	probably benign	Het
Sesn1	A	G	10: 41,774,365 (GRCm39)	T306A	probably benign	Het
Sox14	T	A	9: 99,757,169 (GRCm39)	H190L	probably damaging	Het
Spag8	G	T	4: 43,653,209 (GRCm39)		probably benign	Het
Znhit3	G	T	11: 84,806,959 (GRCm39)		probably benign	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
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
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

Posted On

2014-02-04