Mutagenetix > Incidental Mutation

Incidental Mutation 'R1842:Tomm40'

205815

Institutional Source

Beutler Lab

Gene Symbol

Tomm40

Ensembl Gene

ENSMUSG00000002984

Gene Name

translocase of outer mitochondrial membrane 40

Synonyms

Tom40

MMRRC Submission

039867-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1842 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19435238-19449363 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19447650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 127 (S127P)

Ref Sequence

ENSEMBL: ENSMUSP00000104090 (fasta)

Gene Model

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

AlphaFold

Q9QYA2

Predicted Effect

probably benign
Transcript: ENSMUST00000032555
AA Change: S127P

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000032555
Gene: ENSMUSG00000002984
AA Change: S127P

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 benign
Transcript: ENSMUST00000093552
AA Change: S127P

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000104090
Gene: ENSMUSG00000002984
AA Change: S127P

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

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.8%
20x: 90.8%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	G	T	11: 110,087,865 (GRCm39)	N1087K	probably benign	Het
Abcc3	G	A	11: 94,250,438 (GRCm39)	T921I	probably benign	Het
Abr	T	A	11: 76,399,812 (GRCm39)	I4F	probably damaging	Het
Adcy10	T	A	1: 165,330,812 (GRCm39)	V25D	probably damaging	Het
Ahnak	T	A	19: 8,983,231 (GRCm39)	M1505K	probably damaging	Het
Alms1-ps2	T	C	6: 85,773,231 (GRCm39)		noncoding transcript	Het
Apob	C	G	12: 8,061,559 (GRCm39)	T3347S	probably damaging	Het
Arhgap27	C	A	11: 103,230,822 (GRCm39)	G11W	probably damaging	Het
Ccdc110	A	T	8: 46,393,605 (GRCm39)	I106F	probably damaging	Het
Ccdc28b	T	A	4: 129,514,806 (GRCm39)	D101V	probably damaging	Het
Ccdc30	T	C	4: 119,188,324 (GRCm39)	E566G	probably benign	Het
Cenpm	T	C	15: 82,123,565 (GRCm39)	S111G	probably benign	Het
Cep55	A	G	19: 38,046,348 (GRCm39)	I34V	probably benign	Het
Dcdc2a	T	C	13: 25,291,585 (GRCm39)	L190S	probably damaging	Het
Dhh	T	C	15: 98,792,441 (GRCm39)		probably null	Het
Dst	A	G	1: 34,203,200 (GRCm39)	N703S	probably null	Het
E030025P04Rik	G	A	11: 109,030,396 (GRCm39)	L164F	unknown	Het
Efcab5	A	G	11: 77,025,701 (GRCm39)	V538A	probably benign	Het
Egflam	A	G	15: 7,333,422 (GRCm39)	S177P	probably benign	Het
Ehbp1l1	A	T	19: 5,775,958 (GRCm39)	C31S	probably damaging	Het
Eif2d	C	A	1: 131,098,797 (GRCm39)	Q532K	probably damaging	Het
Elf3	T	C	1: 135,184,531 (GRCm39)	D175G	possibly damaging	Het
F5	T	C	1: 164,012,129 (GRCm39)	V449A	probably damaging	Het
Fam110a	A	T	2: 151,811,954 (GRCm39)	I272N	probably damaging	Het
Fbxo34	A	G	14: 47,768,464 (GRCm39)	D608G	probably damaging	Het
Flrt2	T	C	12: 95,746,058 (GRCm39)	L132P	probably damaging	Het
Frg2f1	A	T	4: 119,388,277 (GRCm39)	V74D	possibly damaging	Het
Gad1	G	T	2: 70,404,597 (GRCm39)	E162D	probably benign	Het
Glb1l	A	G	1: 75,177,104 (GRCm39)	V444A	probably damaging	Het
Gm10770	G	A	2: 150,021,076 (GRCm39)	T147I	probably damaging	Het
Gm43302	T	C	5: 105,425,602 (GRCm39)	I276V	probably benign	Het
Greb1	T	C	12: 16,746,244 (GRCm39)	H1314R	probably damaging	Het
Hapln2	A	G	3: 87,931,308 (GRCm39)	V69A	probably damaging	Het
Hcn1	T	C	13: 118,112,544 (GRCm39)	I836T	probably damaging	Het
Hspa5	A	G	2: 34,665,815 (GRCm39)	D553G	probably damaging	Het
Iqgap1	A	T	7: 80,410,631 (GRCm39)	I194N	probably damaging	Het
Kansl3	A	G	1: 36,390,825 (GRCm39)	V304A	probably damaging	Het
Kdm5d	C	T	Y: 927,798 (GRCm39)	S716L	probably damaging	Het
Klra6	T	C	6: 129,999,573 (GRCm39)	T132A	probably benign	Het
Krt26	CTAGTA	CTA	11: 99,224,352 (GRCm39)		probably benign	Het
Lrp1	A	G	10: 127,409,337 (GRCm39)	I1594T	possibly damaging	Het
Lrp2bp	A	G	8: 46,464,152 (GRCm39)	D15G	probably benign	Het
Map4k1	T	C	7: 28,686,588 (GRCm39)	L170P	probably damaging	Het
Mast3	A	G	8: 71,233,037 (GRCm39)	F1108L	possibly damaging	Het
Mettl5	G	T	2: 69,715,686 (GRCm39)	L6I	unknown	Het
Mfsd14a	A	T	3: 116,426,057 (GRCm39)	F447I	possibly damaging	Het
Mrc2	A	G	11: 105,228,546 (GRCm39)	I642V	probably damaging	Het
Necap1	A	G	6: 122,851,547 (GRCm39)	Y7C	probably damaging	Het
Nsd1	G	A	13: 55,394,258 (GRCm39)	E723K	probably damaging	Het
Nsun3	A	T	16: 62,596,755 (GRCm39)	L121H	probably damaging	Het
Nsun6	A	T	2: 15,014,288 (GRCm39)	M284K	probably damaging	Het
Nutf2	T	C	8: 106,603,242 (GRCm39)		probably null	Het
Odad2	A	T	18: 7,223,551 (GRCm39)	D497E	probably benign	Het
Or1j20	A	T	2: 36,759,601 (GRCm39)	N8Y	probably damaging	Het
Or5d38	A	T	2: 87,954,471 (GRCm39)	M286K	probably damaging	Het
Pacs1	T	C	19: 5,205,912 (GRCm39)	E288G	probably damaging	Het
Peg10	A	T	6: 4,756,381 (GRCm39)		probably benign	Het
Rab38	G	A	7: 88,099,730 (GRCm39)	E82K	possibly damaging	Het
Rgsl1	T	A	1: 153,675,543 (GRCm39)	E206V	probably damaging	Het
Saxo5	T	A	8: 3,533,668 (GRCm39)	F295L	possibly damaging	Het
Scube3	G	A	17: 28,384,063 (GRCm39)	V521I	probably damaging	Het
Sgpp1	C	T	12: 75,762,982 (GRCm39)	V400M	probably damaging	Het
Slc18b1	T	C	10: 23,681,891 (GRCm39)	S152P	possibly damaging	Het
Slit1	A	T	19: 41,709,477 (GRCm39)		probably null	Het
Spata31d1e	T	C	13: 59,890,320 (GRCm39)	Y82C	probably damaging	Het
Spta1	A	G	1: 174,023,513 (GRCm39)	K640R	probably benign	Het
Svil	A	G	18: 5,062,373 (GRCm39)	T898A	probably damaging	Het
Timm44	A	G	8: 4,310,510 (GRCm39)		probably null	Het
Vmn2r23	T	A	6: 123,706,649 (GRCm39)	V493D	possibly damaging	Het
Yeats2	T	C	16: 19,989,988 (GRCm39)	V288A	probably damaging	Het
Zfhx4	C	T	3: 5,466,558 (GRCm39)	R2239W	probably damaging	Het
Zscan2	A	C	7: 80,525,301 (GRCm39)	K341Q	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
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

Predicted Primers

PCR Primer
(F):5'- TCTGGTTCAAGCATCCAGGTC -3'
(R):5'- TAATCTCGTCAGGTCAGGCC -3'

Sequencing Primer
(F):5'- GCATCCAGGTCATCACTAAGTTG -3'
(R):5'- CCTGGTGTTTTGTTGGATCCC -3'

Posted On

2014-06-23