Incidental Mutation 'R5413:Vdac1'
| ID |
427603 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vdac1
|
| Ensembl Gene |
ENSMUSG00000020402 |
| Gene Name |
voltage-dependent anion channel 1 |
| Synonyms |
Vdac5 |
| MMRRC Submission |
042982-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.819)
|
| Stock # |
R5413 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
52251905-52280224 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 52265794 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 52
(L52F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020673
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020673]
[ENSMUST00000102758]
[ENSMUST00000125694]
|
| AlphaFold |
Q60932 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020673
AA Change: L52F
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000020673
Gene: ENSMUSG00000020402
AA Change: L52F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Porin_3
|
16 |
289 |
1.7e-85 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000102758
AA Change: L39F
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000099819
Gene: ENSMUSG00000020402
AA Change: L39F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Porin_3
|
3 |
276 |
7.6e-80 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125694
AA Change: L39F
PolyPhen 2
Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000116919
Gene: ENSMUSG00000020402
AA Change: L39F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Porin_3
|
3 |
235 |
1.7e-66 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157052
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
T |
A |
11: 48,911,204 (GRCm39) |
T410S |
possibly damaging |
Het |
| Adamts3 |
A |
G |
5: 89,856,626 (GRCm39) |
S316P |
probably damaging |
Het |
| Angptl3 |
A |
T |
4: 98,919,259 (GRCm39) |
L6F |
probably benign |
Het |
| Clint1 |
T |
C |
11: 45,777,307 (GRCm39) |
V98A |
probably damaging |
Het |
| Clk2 |
A |
G |
3: 89,080,785 (GRCm39) |
N258S |
probably benign |
Het |
| Col18a1 |
T |
C |
10: 76,905,310 (GRCm39) |
D723G |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 47,701,831 (GRCm39) |
W1751R |
probably damaging |
Het |
| Daam1 |
C |
A |
12: 71,993,066 (GRCm39) |
L352M |
unknown |
Het |
| Dennd2a |
A |
T |
6: 39,441,227 (GRCm39) |
F964I |
probably damaging |
Het |
| Dock5 |
A |
G |
14: 68,002,104 (GRCm39) |
L1622P |
probably damaging |
Het |
| Dpy19l4 |
A |
G |
4: 11,289,700 (GRCm39) |
L195P |
probably damaging |
Het |
| Esp24 |
A |
C |
17: 39,350,893 (GRCm39) |
E31A |
possibly damaging |
Het |
| Fars2 |
T |
A |
13: 36,388,545 (GRCm39) |
Y11* |
probably null |
Het |
| Fbxl16 |
C |
A |
17: 26,035,817 (GRCm39) |
T138K |
possibly damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,249,196 (GRCm39) |
I129V |
probably benign |
Het |
| Gria1 |
A |
G |
11: 57,108,620 (GRCm39) |
N241S |
probably benign |
Het |
| Homer1 |
A |
G |
13: 93,528,287 (GRCm39) |
E274G |
probably benign |
Het |
| Igdcc3 |
T |
C |
9: 65,084,797 (GRCm39) |
V189A |
possibly damaging |
Het |
| Igkv12-98 |
A |
G |
6: 68,548,078 (GRCm39) |
Y68C |
possibly damaging |
Het |
| Igkv3-3 |
G |
C |
6: 70,664,414 (GRCm39) |
R85S |
probably damaging |
Het |
| Ldha |
A |
G |
7: 46,500,320 (GRCm39) |
T144A |
possibly damaging |
Het |
| Lrp1 |
A |
G |
10: 127,423,936 (GRCm39) |
|
probably null |
Het |
| Myh9 |
A |
T |
15: 77,692,186 (GRCm39) |
Y124* |
probably null |
Het |
| Or14c44 |
A |
G |
7: 86,061,675 (GRCm39) |
Y35C |
probably benign |
Het |
| Or2n1d |
G |
T |
17: 38,646,515 (GRCm39) |
A156S |
probably benign |
Het |
| Or2y1b |
A |
T |
11: 49,209,240 (GRCm39) |
Y289F |
probably damaging |
Het |
| Or6b13 |
A |
T |
7: 139,782,635 (GRCm39) |
V16E |
possibly damaging |
Het |
| Osbp |
T |
C |
19: 11,961,855 (GRCm39) |
Y551H |
probably damaging |
Het |
| Paf1 |
T |
C |
7: 28,096,040 (GRCm39) |
M249T |
possibly damaging |
Het |
| Pcsk2 |
T |
C |
2: 143,538,620 (GRCm39) |
|
probably null |
Het |
| Piwil1 |
G |
A |
5: 128,820,944 (GRCm39) |
V290I |
possibly damaging |
Het |
| Prmt9 |
A |
T |
8: 78,298,638 (GRCm39) |
D444V |
possibly damaging |
Het |
| Rapgef2 |
T |
C |
3: 78,995,173 (GRCm39) |
D677G |
probably damaging |
Het |
| Tmem59 |
A |
G |
4: 107,057,659 (GRCm39) |
E237G |
probably benign |
Het |
| Trpm5 |
A |
T |
7: 142,634,705 (GRCm39) |
I664N |
probably damaging |
Het |
| Unc13b |
G |
A |
4: 43,257,936 (GRCm39) |
|
probably null |
Het |
| Usp17lc |
C |
A |
7: 103,067,763 (GRCm39) |
Q353K |
probably benign |
Het |
| Uvssa |
G |
A |
5: 33,568,252 (GRCm39) |
V547M |
probably damaging |
Het |
| Vmn2r14 |
T |
A |
5: 109,369,154 (GRCm39) |
I140L |
probably benign |
Het |
| Wnt3a |
A |
G |
11: 59,166,182 (GRCm39) |
S33P |
probably benign |
Het |
| Wwp2 |
T |
A |
8: 108,281,710 (GRCm39) |
Y300N |
probably damaging |
Het |
| Zwilch |
T |
A |
9: 64,075,892 (GRCm39) |
|
probably null |
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 |
|
|
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'- GTGGTGTCCTAGCTTCAAGC -3'
(R):5'- CACCTACAGTACATTAGGCCAGAAG -3'
Sequencing Primer
(F):5'- ctccaactccTGGCTTAA -3'
(R):5'- CAGTACATTAGGCCAGAAGTTTTG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation