Mutagenetix > Incidental Mutation

Incidental Mutation 'R7261:Vdac1'

564641

Institutional Source

Beutler Lab

Gene Symbol

Vdac1

Ensembl Gene

ENSMUSG00000020402

Gene Name

voltage-dependent anion channel 1

Synonyms

Vdac5

MMRRC Submission

045387-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.844) question?

Stock #

R7261 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52251905-52280224 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52265761 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 28 (K28N)

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 damaging
Transcript: ENSMUST00000020673
AA Change: K41N

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

SMART Domains

Protein: ENSMUSP00000020673
Gene: ENSMUSG00000020402
AA Change: K41N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000102758
AA Change: K28N

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

SMART Domains

Protein: ENSMUSP00000099819
Gene: ENSMUSG00000020402
AA Change: K28N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000125694
AA Change: K28N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116919
Gene: ENSMUSG00000020402
AA Change: K28N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

99% (84/85)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	C	11: 84,259,526 (GRCm39)	F1954L	probably damaging	Het
Acmsd	T	G	1: 127,687,561 (GRCm39)	I281R	probably damaging	Het
Adamts2	A	T	11: 50,677,424 (GRCm39)	M742L	possibly damaging	Het
Adgrf4	G	A	17: 42,978,326 (GRCm39)	T339I	probably benign	Het
Aff1	T	C	5: 103,976,245 (GRCm39)	S448P	probably damaging	Het
Agbl2	A	T	2: 90,619,288 (GRCm39)	S38C	possibly damaging	Het
Akap7	C	T	10: 25,147,416 (GRCm39)	D105N	possibly damaging	Het
Arhgap21	A	G	2: 20,885,177 (GRCm39)	F677L	probably benign	Het
Atf6b	G	T	17: 34,869,792 (GRCm39)	V271F	probably damaging	Het
B3gnt5	A	G	16: 19,588,123 (GRCm39)	Y114C	probably damaging	Het
Casp7	T	A	19: 56,424,765 (GRCm39)	D161E	probably benign	Het
Catsper4	TTCTC	TTC	4: 133,954,423 (GRCm39)		probably null	Het
Ccdc162	T	C	10: 41,437,136 (GRCm39)	T1758A	probably benign	Het
Cfap74	C	A	4: 155,549,831 (GRCm39)	P155T	unknown	Het
Champ1	A	G	8: 13,928,517 (GRCm39)	D225G	possibly damaging	Het
Chrng	A	T	1: 87,134,962 (GRCm39)		probably null	Het
Cnksr1	T	C	4: 133,963,084 (GRCm39)		probably null	Het
Col15a1	G	A	4: 47,269,088 (GRCm39)	G582D	probably benign	Het
Cwc25	A	G	11: 97,648,585 (GRCm39)	V81A	possibly damaging	Het
Ddhd1	A	G	14: 45,894,688 (GRCm39)	Y261H	probably damaging	Het
Defa29	A	G	8: 21,816,818 (GRCm39)		probably null	Het
Diaph3	A	C	14: 87,202,893 (GRCm39)	C666G	probably benign	Het
Dlx2	A	G	2: 71,375,019 (GRCm39)	Y282H	probably damaging	Het
Dsc3	A	T	18: 20,113,814 (GRCm39)	Y369*	probably null	Het
Dtwd1	A	G	2: 126,000,424 (GRCm39)	N120S	probably benign	Het
Dysf	G	A	6: 84,169,992 (GRCm39)	S1761N	probably damaging	Het
Enthd1	A	T	15: 80,444,416 (GRCm39)	N46K	probably damaging	Het
Epha7	T	A	4: 28,813,418 (GRCm39)	I12N	probably benign	Het
Fam171a2	T	A	11: 102,328,900 (GRCm39)	N620Y	probably damaging	Het
Garin4	T	C	1: 190,896,308 (GRCm39)	S112G	unknown	Het
Gfpt2	A	T	11: 49,714,078 (GRCm39)	E278D	possibly damaging	Het
Gm3285	A	G	10: 77,698,244 (GRCm39)	Q131R	unknown	Het
Gpcpd1	A	C	2: 132,410,619 (GRCm39)	C23G	probably damaging	Het
Gtpbp4	A	T	13: 9,037,954 (GRCm39)	H228Q	probably benign	Het
Hdac7	A	G	15: 97,704,415 (GRCm39)	V500A	probably benign	Het
Hykk	T	G	9: 54,828,010 (GRCm39)	M83R	possibly damaging	Het
Idi1	A	G	13: 8,936,931 (GRCm39)	I101V	probably benign	Het
Irs2	A	T	8: 11,057,018 (GRCm39)	H471Q	possibly damaging	Het
Itsn1	T	C	16: 91,702,194 (GRCm39)	V12A	probably benign	Het
Jak2	A	G	19: 29,288,385 (GRCm39)	I1079V	possibly damaging	Het
Kcnt2	G	A	1: 140,282,255 (GRCm39)	R80H	possibly damaging	Het
Lamb2	T	C	9: 108,358,496 (GRCm39)	Y178H	probably damaging	Het
Lgr5	A	T	10: 115,423,370 (GRCm39)	L10Q	possibly damaging	Het
Lnx1	G	T	5: 74,838,175 (GRCm39)	S29*	probably null	Het
Lpcat3	T	A	6: 124,675,050 (GRCm39)	F57I	probably benign	Het
Manf	T	C	9: 106,769,088 (GRCm39)	T4A	probably benign	Het
Map2k3	G	A	11: 60,836,393 (GRCm39)		probably null	Het
Myh14	G	A	7: 44,273,761 (GRCm39)	Q1329*	probably null	Het
Myocd	T	C	11: 65,078,422 (GRCm39)	S458G	probably damaging	Het
Ncor2	T	C	5: 125,187,143 (GRCm39)		probably null	Het
Ndufs8	A	T	19: 3,961,606 (GRCm39)	N23K	probably benign	Het
Nkx6-1	T	C	5: 101,812,006 (GRCm39)	K32R	unknown	Het
Nlrp3	T	G	11: 59,439,272 (GRCm39)	V283G	possibly damaging	Het
Nme3	A	G	17: 25,116,037 (GRCm39)		probably null	Het
Or1o3	A	G	17: 37,574,076 (GRCm39)	F160L	probably benign	Het
Or8g23	C	T	9: 38,971,504 (GRCm39)	V153M	possibly damaging	Het
Parvg	T	C	15: 84,215,297 (GRCm39)		probably null	Het
Peg10	T	A	6: 4,756,591 (GRCm39)	M389K	unknown	Het
Phf23	G	T	11: 69,890,091 (GRCm39)	C340F	possibly damaging	Het
Piwil2	A	G	14: 70,611,860 (GRCm39)	Y929H	probably damaging	Het
Prss39	A	G	1: 34,539,369 (GRCm39)	D203G	probably damaging	Het
Prss54	G	T	8: 96,286,367 (GRCm39)	D235E	probably benign	Het
Prtg	T	A	9: 72,815,117 (GRCm39)	M1015K	possibly damaging	Het
Rbbp8	T	C	18: 11,838,799 (GRCm39)	I160T	probably damaging	Het
Rxylt1	A	T	10: 121,924,822 (GRCm39)	D293E	probably benign	Het
Scn10a	C	A	9: 119,438,790 (GRCm39)	C1692F	probably damaging	Het
Scn11a	C	T	9: 119,648,899 (GRCm39)	D55N	probably damaging	Het
Secisbp2	G	T	13: 51,836,498 (GRCm39)	V768F	probably damaging	Het
Skic3	A	G	13: 76,261,698 (GRCm39)	T138A	probably benign	Het
Spag16	T	C	1: 70,338,780 (GRCm39)	I426T	possibly damaging	Het
Sspo	G	A	6: 48,427,011 (GRCm39)	V250M	possibly damaging	Het
Strbp	A	T	2: 37,531,149 (GRCm39)		probably null	Het
Sv2c	C	T	13: 96,224,809 (GRCm39)	V167M	probably damaging	Het
Tdpoz1	G	A	3: 93,577,794 (GRCm39)	S330L	not run	Het
Tigd2	T	A	6: 59,188,052 (GRCm39)	D306E	probably benign	Het
Trrap	C	T	5: 144,782,287 (GRCm39)	P3278S	possibly damaging	Het
Vmn1r84	A	T	7: 12,096,069 (GRCm39)	M208K	probably damaging	Het
Vmn2r77	A	T	7: 86,460,518 (GRCm39)	K615*	probably null	Het
Vps11	A	G	9: 44,265,800 (GRCm39)	L493P	probably damaging	Het
Zbtb21	T	C	16: 97,754,179 (GRCm39)	I35V	possibly damaging	Het
Zbtb26	A	T	2: 37,326,667 (GRCm39)	M123K	possibly damaging	Het
Zfp236	A	T	18: 82,627,470 (GRCm39)	D1576E	possibly damaging	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
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
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'- TGGTGTCCTAGCTTCAAGC -3'
(R):5'- TGGGTACAGCACACACCTAC -3'

Sequencing Primer
(F):5'- agatacacctccaactcc -3'
(R):5'- CAGTACATTAGGCCAGAAGTTTTG -3'

Posted On

2019-06-26