Mutagenetix > Incidental Mutation

Incidental Mutation 'R5027:Vdac1'

391452

Institutional Source

Beutler Lab

Gene Symbol

Vdac1

Ensembl Gene

ENSMUSG00000020402

Gene Name

voltage-dependent anion channel 1

Synonyms

Vdac5

MMRRC Submission

042618-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.844) question?

Stock #

R5027 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52251905-52280224 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 52279305 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 269 (N269K)

Ref Sequence

ENSEMBL: ENSMUSP00000099819 (fasta)

Gene Model

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

AlphaFold

Q60932

PDB Structure

The Crystal Structure of Mouse VDAC1 at 2.3 A resolution [X-RAY DIFFRACTION]
ATP binding to murine voltage-dependent anion channel 1 (mVDAC1). [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000020673
AA Change: N282K

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000020673
Gene: ENSMUSG00000020402
AA Change: N282K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102758
AA Change: N269K

PolyPhen 2 Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099819
Gene: ENSMUSG00000020402
AA Change: N269K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000125694

SMART Domains

Protein: ENSMUSP00000116919
Gene: ENSMUSG00000020402

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153339

Meta Mutation Damage Score

0.2608

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.6%

Validation Efficiency

97% (97/100)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	G	7: 119,911,505 (GRCm39)	I1363R	probably benign	Het
Abcc1	T	C	16: 14,221,917 (GRCm39)		probably null	Het
Adgrf1	T	A	17: 43,614,638 (GRCm39)	F241I	probably damaging	Het
Afg3l1	T	C	8: 124,216,553 (GRCm39)	M264T	probably benign	Het
Ankle1	T	C	8: 71,861,623 (GRCm39)	S434P	probably damaging	Het
Apoe	C	T	7: 19,430,940 (GRCm39)	A101T	probably damaging	Het
Apol11a	G	T	15: 77,401,153 (GRCm39)	K213N	probably damaging	Het
Asap2	A	G	12: 21,254,082 (GRCm39)	M198V	probably damaging	Het
Atg4b	C	T	1: 93,714,297 (GRCm39)	A360V	probably benign	Het
B3gnt5	T	A	16: 19,588,444 (GRCm39)	V221D	probably damaging	Het
Baz2b	A	T	2: 59,928,988 (GRCm39)		probably benign	Het
Cep350	C	A	1: 155,809,100 (GRCm39)	W492L	probably benign	Het
Cln6	A	G	9: 62,754,375 (GRCm39)	Y139C	probably damaging	Het
Col16a1	C	T	4: 129,972,988 (GRCm39)	T643M	probably benign	Het
Cul9	C	T	17: 46,811,708 (GRCm39)	E2507K	probably damaging	Het
Dgkz	A	T	2: 91,775,888 (GRCm39)	V125D	probably benign	Het
Dnah17	T	C	11: 117,993,365 (GRCm39)	M1127V	probably benign	Het
Dnajb1	C	A	8: 84,336,732 (GRCm39)	D67E	probably benign	Het
Dync1li1	A	G	9: 114,542,612 (GRCm39)	D258G	probably damaging	Het
Egflam	G	T	15: 7,283,125 (GRCm39)	P311T	probably benign	Het
Fbxw11	T	A	11: 32,602,811 (GRCm39)		probably benign	Het
Fn3krp	T	G	11: 121,320,274 (GRCm39)	D206E	probably benign	Het
Fsip2	A	G	2: 82,819,477 (GRCm39)	H5070R	possibly damaging	Het
Gm6605	T	C	7: 38,149,683 (GRCm39)		noncoding transcript	Het
Gna14	C	A	19: 16,580,636 (GRCm39)	T158K	probably benign	Het
Gstt2	A	T	10: 75,667,726 (GRCm39)	I243N	probably damaging	Het
Haus6	C	T	4: 86,523,933 (GRCm39)	D50N	possibly damaging	Het
Hcrtr2	A	G	9: 76,230,578 (GRCm39)	I70T	probably benign	Het
Herc1	G	A	9: 66,380,811 (GRCm39)	V3563I	probably benign	Het
Herc1	A	T	9: 66,411,900 (GRCm39)	I4707F	probably damaging	Het
Hic2	C	T	16: 17,076,611 (GRCm39)	A480V	possibly damaging	Het
Hsd17b3	A	G	13: 64,210,720 (GRCm39)	Y212H	probably damaging	Het
Hspa5	A	G	2: 34,665,827 (GRCm39)	K557R	probably damaging	Het
Iqch	T	C	9: 63,432,294 (GRCm39)	E367G	possibly damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Lars2	A	G	9: 123,270,560 (GRCm39)	M551V	probably benign	Het
Lbp	T	C	2: 158,150,646 (GRCm39)	I57T	possibly damaging	Het
Liat1	A	G	11: 75,891,047 (GRCm39)	K54E	probably damaging	Het
Litaf	T	C	16: 10,778,868 (GRCm39)	Q142R	possibly damaging	Het
Lpar5	G	C	6: 125,059,110 (GRCm39)	R277P	possibly damaging	Het
Muc6	T	A	7: 141,216,349 (GRCm39)	I2710F	probably benign	Het
Myo7b	T	A	18: 32,108,265 (GRCm39)	I1199F	probably benign	Het
Naca	A	C	10: 127,883,990 (GRCm39)	E2140D	possibly damaging	Het
Nup214	G	T	2: 31,881,329 (GRCm39)	G396C	probably damaging	Het
Or2v1	A	T	11: 49,025,451 (GRCm39)	Q144L	probably benign	Het
Or5aq7	T	A	2: 86,938,150 (GRCm39)	I194F	probably benign	Het
Or5j3	G	A	2: 86,128,540 (GRCm39)	V127I	possibly damaging	Het
Or7g33	A	G	9: 19,448,573 (GRCm39)	Y218H	probably damaging	Het
Or8b57	A	T	9: 40,003,690 (GRCm39)	S187T	probably damaging	Het
P4htm	A	G	9: 108,456,492 (GRCm39)	V436A	probably benign	Het
Pfkm	A	G	15: 98,017,307 (GRCm39)	I117V	possibly damaging	Het
Phlpp1	T	G	1: 106,209,201 (GRCm39)	V518G	probably damaging	Het
Piwil4	G	A	9: 14,621,240 (GRCm39)	L598F	probably damaging	Het
Polr1b	T	G	2: 128,965,803 (GRCm39)	I815R	possibly damaging	Het
Ppef2	T	C	5: 92,382,150 (GRCm39)	N515S	probably damaging	Het
Prp2rt	A	G	13: 97,235,648 (GRCm39)	I33T	probably benign	Het
Prpsap2	G	T	11: 61,631,830 (GRCm39)		probably null	Het
Rab27a	A	G	9: 73,002,695 (GRCm39)	D208G	probably benign	Het
Ralgds	A	G	2: 28,442,102 (GRCm39)		probably null	Het
Raph1	C	A	1: 60,535,436 (GRCm39)	C540F	probably damaging	Het
Rbsn	A	G	6: 92,175,231 (GRCm39)	L281P	probably damaging	Het
Rigi	T	A	4: 40,208,845 (GRCm39)	M756L	probably benign	Het
Rmdn1	G	T	4: 19,588,533 (GRCm39)	G110*	probably null	Het
Rph3a	T	A	5: 121,092,512 (GRCm39)	E363V	possibly damaging	Het
Serpina16	G	T	12: 103,641,262 (GRCm39)	Y154*	probably null	Het
Sh2d3c	G	A	2: 32,634,814 (GRCm39)	E198K	possibly damaging	Het
Shank2	C	A	7: 143,812,842 (GRCm39)	Y663*	probably null	Het
Sharpin	T	C	15: 76,234,225 (GRCm39)		probably benign	Het
Slitrk1	G	A	14: 109,149,740 (GRCm39)	P324S	probably benign	Het
Sorbs2	T	A	8: 46,199,571 (GRCm39)		probably null	Het
Spag16	C	T	1: 69,962,963 (GRCm39)		probably benign	Het
Sycp2l	A	T	13: 41,283,247 (GRCm39)		probably null	Het
Synj1	A	T	16: 90,737,407 (GRCm39)		probably null	Het
Sytl1	T	C	4: 132,983,530 (GRCm39)		probably benign	Het
Tkfc	A	T	19: 10,570,023 (GRCm39)		probably null	Het
Tnn	T	C	1: 159,972,781 (GRCm39)	T274A	probably damaging	Het
Trav14-2	T	A	14: 53,878,505 (GRCm39)	W35R	probably damaging	Het
Trim72	T	C	7: 127,607,137 (GRCm39)	M222T	probably damaging	Het
Trim9	A	G	12: 70,393,482 (GRCm39)	V154A	probably damaging	Het
Ttc7b	T	C	12: 100,268,001 (GRCm39)	Y266C	probably damaging	Het
Uchl3	T	A	14: 101,903,982 (GRCm39)	I43K	possibly damaging	Het
Wdr72	T	A	9: 74,053,258 (GRCm39)	W187R	probably damaging	Het
Zfp30	T	A	7: 29,492,491 (GRCm39)	C248*	probably null	Het
Zfp940	A	T	7: 29,550,381 (GRCm39)		probably benign	Het
Zfp980	G	A	4: 145,428,653 (GRCm39)	G461S	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
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
R6276:Vdac1	UTSW	11	52,267,309 (GRCm39)	missense	possibly damaging	0.84
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'- AGAGCACACCTTGAAGGGTC -3'
(R):5'- CTTAGCCTGGAGGTCTAACG -3'

Sequencing Primer
(F):5'- TTGGCCACTGCTGACTG -3'
(R):5'- GGAGGTCTAACGTGGTATTTATCAAC -3'

Posted On

2016-06-06