Mutagenetix > Incidental Mutation

Incidental Mutation 'R6276:Vdac1'

507659

Institutional Source

Beutler Lab

Gene Symbol

Vdac1

Ensembl Gene

ENSMUSG00000020402

Gene Name

voltage-dependent anion channel 1

Synonyms

Vdac5

MMRRC Submission

044446-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.844) question?

Stock #

R6276 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52251905-52280224 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 52267309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 70 (T70M)

Ref Sequence

ENSEMBL: ENSMUSP00000116919 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020673] [ENSMUST00000102758] [ENSMUST00000125694]

AlphaFold

Q60932

Predicted Effect

probably benign
Transcript: ENSMUST00000020673
AA Change: T83M

PolyPhen 2 Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000020673
Gene: ENSMUSG00000020402
AA Change: T83M

Domain	Start	End	E-Value	Type
Pfam:Porin_3	16	289	1.7e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102758
AA Change: T70M

PolyPhen 2 Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099819
Gene: ENSMUSG00000020402
AA Change: T70M

Domain	Start	End	E-Value	Type
Pfam:Porin_3	3	276	7.6e-80	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000125694
AA Change: T70M

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000116919
Gene: ENSMUSG00000020402
AA Change: T70M

Domain	Start	End	E-Value	Type
Pfam:Porin_3	3	235	1.7e-66	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157052

Meta Mutation Damage Score

0.4546

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.5%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: This gene encodes a voltage-dependent anion channel protein that is a major component of the outer mitochondrial membrane. The encoded protein facilitates the exchange of metabolites and ions across the outer mitochondrial membrane and may regulate mitochondrial functions. This protein also forms channels in the plasma membrane and may be involved in transmembrane electron transport. Multiple pseudogenes of this gene are found on chromosomes 1, 2, 3, 6, 8, 9, and X. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous null mutants exhibit approximately 60% embryonic mortality, with loss occurring at embryonic day 10.5-11.5. Survivors exhibit defective cued fear conditioning and spatial learning. Heterozygotes also exhibit about 12% prenatal mortality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3	A	T	1: 125,322,874 (GRCm39)	D364E	probably benign	Het
Adra2c	C	T	5: 35,437,423 (GRCm39)	T65I	probably damaging	Het
Agap2	T	A	10: 126,925,229 (GRCm39)		probably null	Het
Ager	T	C	17: 34,817,728 (GRCm39)	V126A	possibly damaging	Het
Arhgap39	T	C	15: 76,621,736 (GRCm39)	I288M	probably benign	Het
Arhgap45	A	T	10: 79,862,068 (GRCm39)	S541C	probably benign	Het
Asb4	A	G	6: 5,431,043 (GRCm39)	Y426C	probably damaging	Het
Azi2	C	T	9: 117,878,406 (GRCm39)	T82I	probably damaging	Het
Baz2b	T	A	2: 59,778,567 (GRCm39)	R764S	probably damaging	Het
Ccdc146	A	C	5: 21,506,338 (GRCm39)	I701S	probably damaging	Het
Ccnq	T	C	11: 78,642,056 (GRCm39)	K145E	probably damaging	Het
Cd55b	T	A	1: 130,345,903 (GRCm39)	I172F	probably damaging	Het
Cdk11b	A	G	4: 155,718,647 (GRCm39)	E199G	probably benign	Het
Cntnap4	A	T	8: 113,478,921 (GRCm39)	T216S	possibly damaging	Het
D5Ertd579e	A	T	5: 36,761,858 (GRCm39)	N1336K	possibly damaging	Het
Dlg5	T	C	14: 24,214,636 (GRCm39)	N649S	probably damaging	Het
Dmxl1	A	G	18: 49,979,653 (GRCm39)	E96G	probably benign	Het
Dscaml1	C	T	9: 45,579,458 (GRCm39)	T335I	possibly damaging	Het
Epb41l2	G	T	10: 25,378,022 (GRCm39)	G695C	probably damaging	Het
Erbb4	C	T	1: 68,599,735 (GRCm39)	R114H	probably damaging	Het
F2rl1	G	T	13: 95,650,446 (GRCm39)	Y145*	probably null	Het
Fsip2	A	T	2: 82,810,785 (GRCm39)	Y2368F	possibly damaging	Het
Galnt7	C	T	8: 57,989,612 (GRCm39)		probably null	Het
Garre1	A	T	7: 33,941,802 (GRCm39)	Y627*	probably null	Het
Gm6811	T	A	17: 21,314,245 (GRCm39)		noncoding transcript	Het
Gm6811	T	G	17: 21,314,952 (GRCm39)		noncoding transcript	Het
H2-M1	G	A	17: 36,982,602 (GRCm39)	T86M	possibly damaging	Het
Hk2	T	C	6: 82,720,347 (GRCm39)	D170G	probably benign	Het
Hmcn1	C	T	1: 150,614,432 (GRCm39)	A1325T	possibly damaging	Het
Insrr	T	A	3: 87,707,826 (GRCm39)	Y89*	probably null	Het
Itga1	T	C	13: 115,117,388 (GRCm39)	E871G	probably benign	Het
Kat6a	T	C	8: 23,429,421 (GRCm39)	L1592P	possibly damaging	Het
Kndc1	C	A	7: 139,500,979 (GRCm39)	A756E	probably benign	Het
Krt12	A	T	11: 99,312,728 (GRCm39)	C105*	probably null	Het
Lama1	G	A	17: 68,091,083 (GRCm39)		probably null	Het
Lama3	A	G	18: 12,640,006 (GRCm39)	N67S	probably benign	Het
Lrrk1	A	G	7: 65,956,587 (GRCm39)		probably null	Het
Lypd9	T	A	11: 58,337,192 (GRCm39)	I94L	possibly damaging	Het
Map2	T	C	1: 66,438,578 (GRCm39)	V34A	probably damaging	Het
Mroh6	A	G	15: 75,757,549 (GRCm39)	L487P	probably damaging	Het
Myo18b	A	T	5: 112,959,508 (GRCm39)	S1430T	probably benign	Het
Notch3	G	A	17: 32,373,723 (GRCm39)	T495I	probably benign	Het
Or1e31	A	T	11: 73,690,229 (GRCm39)	M118K	probably damaging	Het
Palld	C	T	8: 61,966,457 (GRCm39)	A980T	probably damaging	Het
Paxip1	A	T	5: 27,966,666 (GRCm39)	I620N	probably damaging	Het
Pcdha6	A	G	18: 37,102,820 (GRCm39)		probably null	Het
Pcdhb11	G	A	18: 37,554,813 (GRCm39)	V48M	probably benign	Het
Pcdhga6	A	G	18: 37,840,697 (GRCm39)	E139G	probably benign	Het
Pck1	T	C	2: 172,999,112 (GRCm39)	V426A	probably damaging	Het
Pck2	T	A	14: 55,780,081 (GRCm39)	I110N	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Phactr3	G	A	2: 177,920,812 (GRCm39)	E222K	probably damaging	Het
Ppip5k1	A	T	2: 121,153,684 (GRCm39)		probably benign	Het
Prodh2	A	G	7: 30,206,076 (GRCm39)	H278R	probably benign	Het
Rspry1	T	A	8: 95,349,886 (GRCm39)	H91Q	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Smn1	A	G	13: 100,264,503 (GRCm39)	N78S	possibly damaging	Het
Spta1	T	A	1: 174,046,078 (GRCm39)	I1614N	probably damaging	Het
Syt17	T	C	7: 118,033,513 (GRCm39)	D165G	probably damaging	Het
Tbck	A	G	3: 132,448,766 (GRCm39)	Y593C	probably damaging	Het
Tcaf2	G	C	6: 42,606,687 (GRCm39)	F422L	probably benign	Het
Tex15	T	A	8: 34,067,217 (GRCm39)	F2216I	possibly damaging	Het
Trpc4	A	G	3: 54,225,441 (GRCm39)	E846G	probably benign	Het
Ttc41	T	C	10: 86,580,313 (GRCm39)	I753T	probably benign	Het
Vmn1r124	A	C	7: 20,994,104 (GRCm39)	F147V	probably benign	Het
Vmn1r220	T	C	13: 23,368,465 (GRCm39)	D77G	probably damaging	Het
Vmn2r28	T	C	7: 5,493,730 (GRCm39)	H72R	probably benign	Het
Vmn2r78	A	T	7: 86,570,318 (GRCm39)	I279L	probably benign	Het
Vmn2r95	G	T	17: 18,671,732 (GRCm39)	A490S	possibly damaging	Het
Wdfy4	C	T	14: 32,831,482 (GRCm39)	A915T	possibly damaging	Het
Zmiz2	G	T	11: 6,345,604 (GRCm39)		probably null	Het
Zscan2	A	G	7: 80,525,557 (GRCm39)	N426S	probably benign	Het

Other mutations in Vdac1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01350:Vdac1	APN	11	52,276,489 (GRCm39)	missense	probably benign	0.02
IGL02057:Vdac1	APN	11	52,267,371 (GRCm39)	critical splice donor site	probably null
IGL03223:Vdac1	APN	11	52,267,482 (GRCm39)	missense	probably benign
IGL03225:Vdac1	APN	11	52,267,482 (GRCm39)	missense	probably benign
R0362:Vdac1	UTSW	11	52,265,800 (GRCm39)	splice site	probably benign
R1612:Vdac1	UTSW	11	52,274,897 (GRCm39)	missense	probably benign	0.03
R1694:Vdac1	UTSW	11	52,265,190 (GRCm39)	missense	probably damaging	0.96
R2512:Vdac1	UTSW	11	52,274,904 (GRCm39)	missense	probably damaging	1.00
R3717:Vdac1	UTSW	11	52,267,473 (GRCm39)	critical splice acceptor site	probably null
R4592:Vdac1	UTSW	11	52,265,799 (GRCm39)	splice site	probably null
R5027:Vdac1	UTSW	11	52,279,305 (GRCm39)	missense	possibly damaging	0.75
R5209:Vdac1	UTSW	11	52,267,279 (GRCm39)	missense	probably damaging	0.99
R5256:Vdac1	UTSW	11	52,274,905 (GRCm39)	critical splice donor site	probably null
R5413:Vdac1	UTSW	11	52,265,794 (GRCm39)	missense	probably null	0.17
R5762:Vdac1	UTSW	11	52,278,280 (GRCm39)	missense	possibly damaging	0.77
R6954:Vdac1	UTSW	11	52,277,200 (GRCm39)	missense	probably damaging	1.00
R7023:Vdac1	UTSW	11	52,265,193 (GRCm39)	missense	probably damaging	0.99
R7261:Vdac1	UTSW	11	52,265,761 (GRCm39)	missense	probably damaging	0.98
R8414:Vdac1	UTSW	11	52,267,330 (GRCm39)	missense	possibly damaging	0.69
R8847:Vdac1	UTSW	11	52,267,230 (GRCm39)	missense
R9276:Vdac1	UTSW	11	52,274,789 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGACTCTCTGTTGCTTAAGGGC -3'
(R):5'- GAGAACCTTACCCAGTGTTCG -3'

Sequencing Primer
(F):5'- TTGCTTAAGGGCCTGGACCAAG -3'
(R):5'- TCAAAGGTGAGCTTCAGTCC -3'

Posted On

2018-03-15