Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03178:Tomm40'

412072

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03178

Quality Score

Status

Chromosome

Chromosomal Location

19701313-19715438 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 19701834 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 324 (V324M)

Ref Sequence

ENSEMBL: ENSMUSP00000104090 (fasta)

Gene Model

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

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

probably damaging
Transcript: ENSMUST00000032555
AA Change: V324M

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032555
Gene: ENSMUSG00000002984
AA Change: V324M

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 damaging
Transcript: ENSMUST00000093552
AA Change: V324M

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104090
Gene: ENSMUSG00000002984
AA Change: V324M

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

probably benign
Transcript: ENSMUST00000172705

SMART Domains

Protein: ENSMUSP00000133975
Gene: ENSMUSG00000002984

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

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: 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: 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: 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: 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

noncoding transcript
Transcript: ENSMUST00000208286

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207525

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174476

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add1	A	G	5: 34,614,245		probably null	Het
Alpk1	A	T	3: 127,680,221	L711*	probably null	Het
Arfgef3	A	T	10: 18,613,225	W1291R	probably damaging	Het
Arhgef10l	A	G	4: 140,544,428	V545A	possibly damaging	Het
Best3	A	G	10: 116,988,779	Y50C	probably damaging	Het
C1qtnf2	C	A	11: 43,490,989	D179E	probably damaging	Het
C87977	A	G	4: 144,208,251		probably null	Het
Cdc40	A	T	10: 40,847,989	S268T	probably benign	Het
Ces1a	C	T	8: 93,020,889	G505R	probably damaging	Het
Cpd	A	T	11: 76,806,051	N683K	probably benign	Het
D430041D05Rik	A	T	2: 104,221,211	I767N	probably damaging	Het
Diras1	G	T	10: 81,022,377	F13L	possibly damaging	Het
Dnah7c	A	G	1: 46,467,365	N201D	probably benign	Het
Dpy19l3	A	T	7: 35,729,729	Y9*	probably null	Het
Ect2	T	A	3: 27,148,860	I79L	probably benign	Het
Eif2b4	A	T	5: 31,187,653	I550N	probably damaging	Het
Enpp2	T	A	15: 54,866,006	M476L	probably benign	Het
Gm20425	A	G	9: 103,210,552	Y654H	probably damaging	Het
Gm5884	T	C	6: 128,645,727		noncoding transcript	Het
Gm7257	T	G	9: 36,432,836	S38R	probably benign	Het
Gtf3c6	A	T	10: 40,249,722	D166E	probably benign	Het
Gucy2c	A	T	6: 136,729,239		probably benign	Het
Inpp5b	A	G	4: 124,785,254	T485A	probably benign	Het
Insrr	A	G	3: 87,802,541		probably null	Het
Lig3	T	C	11: 82,789,722		probably benign	Het
Lmo7	T	A	14: 101,929,260	Y1047*	probably null	Het
Map4k4	A	G	1: 39,986,693	E281G	possibly damaging	Het
Mmel1	A	G	4: 154,890,854	T431A	possibly damaging	Het
Myh10	T	C	11: 68,699,413	V58A	probably benign	Het
Myo1e	A	T	9: 70,286,949	H14L	possibly damaging	Het
Myo1g	C	T	11: 6,512,181	V594M	probably damaging	Het
Nr4a2	G	A	2: 57,110,766	R226C	probably damaging	Het
Obox3	A	G	7: 15,627,277	L21P	probably benign	Het
Olfr1383	A	G	11: 49,523,990	D89G	possibly damaging	Het
Phlpp1	T	A	1: 106,392,388	I1371N	probably damaging	Het
Proser3	G	A	7: 30,543,609	A181V	probably damaging	Het
Pudp	A	T	18: 50,568,401	L87Q	probably benign	Het
Siglecf	T	C	7: 43,358,739	S559P	probably damaging	Het
Slc22a16	A	G	10: 40,573,760	H85R	probably benign	Het
Spata32	T	C	11: 103,210,762	D15G	probably benign	Het
Spata5	T	C	3: 37,578,783	L846P	probably damaging	Het
Szt2	G	A	4: 118,382,689	A1899V	unknown	Het
Tcrg-V7	C	A	13: 19,178,041		probably benign	Het
Ttll4	C	T	1: 74,680,408	P25S	probably damaging	Het
Vps13b	G	T	15: 35,869,300	C2650F	probably damaging	Het
Wdr83os	T	C	8: 85,081,241	L40P	probably damaging	Het
Zfp977	T	C	7: 42,582,648	R64G	probably damaging	Het

Other mutations in Tomm40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01712:Tomm40	APN	7	19703363	missense	probably benign	0.13
IGL01766:Tomm40	APN	7	19703082	missense	possibly damaging	0.93
IGL02831:Tomm40	APN	7	19703089	missense	probably damaging	1.00
PIT4131001:Tomm40	UTSW	7	19703091	missense	probably damaging	1.00
R0280:Tomm40	UTSW	7	19713751	missense	probably damaging	1.00
R1842:Tomm40	UTSW	7	19713725	missense	probably benign	0.41
R1913:Tomm40	UTSW	7	19710961	missense	probably damaging	0.98
R3702:Tomm40	UTSW	7	19713673	missense	possibly damaging	0.89
R4685:Tomm40	UTSW	7	19701836	missense	probably benign	0.06
R5165:Tomm40	UTSW	7	19713667	critical splice donor site	probably null
R5380:Tomm40	UTSW	7	19701750	missense	probably benign	0.27
R6026:Tomm40	UTSW	7	19710964	missense	probably benign	0.43
R6236:Tomm40	UTSW	7	19703356	missense	probably benign	0.15
R6994:Tomm40	UTSW	7	19702906	missense	probably damaging	0.98
R7206:Tomm40	UTSW	7	19710936	missense	probably benign	0.10
R7530:Tomm40	UTSW	7	19702904	missense	possibly damaging	0.82
R8419:Tomm40	UTSW	7	19701834	missense	probably damaging	0.98
Z1176:Tomm40	UTSW	7	19703094	missense	probably benign	0.21

Posted On

2016-08-02