Incidental Mutation 'IGL01350:Vdac1'
| ID |
75321 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vdac1
|
| Ensembl Gene |
ENSMUSG00000020402 |
| Gene Name |
voltage-dependent anion channel 1 |
| Synonyms |
Vdac5 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.844)
|
| Stock # |
IGL01350
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
52251905-52280224 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 52276489 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 211
(T211A)
|
| 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: T224A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000020673
Gene: ENSMUSG00000020402
AA Change: T224A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Porin_3
|
16 |
289 |
1.7e-85 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102758
AA Change: T211A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000099819
Gene: ENSMUSG00000020402
AA Change: T211A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Porin_3
|
3 |
276 |
7.6e-80 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125694
AA Change: T211A
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000116919
Gene: ENSMUSG00000020402
AA Change: T211A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Porin_3
|
3 |
235 |
1.7e-66 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153339
|
| Coding Region Coverage |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
G |
16: 20,187,208 (GRCm39) |
I926T |
probably benign |
Het |
| Adam39 |
T |
A |
8: 41,278,876 (GRCm39) |
C422* |
probably null |
Het |
| Aldh1l1 |
A |
G |
6: 90,536,338 (GRCm39) |
N81S |
probably damaging |
Het |
| Amd1 |
A |
T |
10: 40,166,186 (GRCm39) |
Y264* |
probably null |
Het |
| Axl |
T |
C |
7: 25,458,175 (GRCm39) |
Y851C |
probably damaging |
Het |
| Ccdc70 |
T |
C |
8: 22,463,690 (GRCm39) |
L160P |
probably damaging |
Het |
| Cd2ap |
A |
T |
17: 43,136,812 (GRCm39) |
Y273* |
probably null |
Het |
| Cyb5rl |
T |
C |
4: 106,941,409 (GRCm39) |
V278A |
possibly damaging |
Het |
| Cyp2c29 |
T |
C |
19: 39,318,771 (GRCm39) |
F417S |
probably damaging |
Het |
| Dnah7b |
C |
A |
1: 46,120,592 (GRCm39) |
|
probably benign |
Het |
| Epha4 |
A |
T |
1: 77,483,492 (GRCm39) |
D172E |
probably damaging |
Het |
| Eya4 |
T |
A |
10: 22,989,873 (GRCm39) |
I495F |
possibly damaging |
Het |
| Gpr150 |
A |
T |
13: 76,204,542 (GRCm39) |
H134Q |
probably benign |
Het |
| Gpr153 |
T |
G |
4: 152,366,423 (GRCm39) |
|
probably benign |
Het |
| Hipk2 |
A |
G |
6: 38,795,250 (GRCm39) |
Y333H |
probably damaging |
Het |
| Jakmip1 |
T |
C |
5: 37,242,775 (GRCm39) |
M21T |
probably benign |
Het |
| Kcnh3 |
A |
T |
15: 99,139,873 (GRCm39) |
I920F |
probably benign |
Het |
| Lrp2 |
G |
A |
2: 69,341,328 (GRCm39) |
R951C |
probably damaging |
Het |
| Msi1 |
A |
G |
5: 115,573,580 (GRCm39) |
K126R |
possibly damaging |
Het |
| Nkx2-6 |
T |
A |
14: 69,412,222 (GRCm39) |
F130Y |
probably damaging |
Het |
| Onecut2 |
T |
A |
18: 64,474,160 (GRCm39) |
L218Q |
probably damaging |
Het |
| Or12j4 |
G |
T |
7: 140,046,292 (GRCm39) |
M59I |
probably damaging |
Het |
| Or5p6 |
T |
C |
7: 107,630,887 (GRCm39) |
Y221C |
probably damaging |
Het |
| Or8j3 |
A |
G |
2: 86,028,149 (GRCm39) |
*316Q |
probably null |
Het |
| Pah |
T |
A |
10: 87,414,221 (GRCm39) |
|
probably benign |
Het |
| Per2 |
C |
T |
1: 91,358,583 (GRCm39) |
E602K |
probably damaging |
Het |
| Plb1 |
C |
T |
5: 32,474,408 (GRCm39) |
T623M |
probably damaging |
Het |
| Prkaa2 |
T |
C |
4: 104,909,109 (GRCm39) |
|
probably null |
Het |
| Prl7b1 |
T |
A |
13: 27,786,804 (GRCm39) |
T142S |
probably damaging |
Het |
| Psd3 |
T |
C |
8: 68,173,544 (GRCm39) |
H1090R |
probably damaging |
Het |
| Siglecf |
G |
T |
7: 43,005,319 (GRCm39) |
|
probably benign |
Het |
| Tas2r118 |
A |
G |
6: 23,969,746 (GRCm39) |
V105A |
probably damaging |
Het |
| Thnsl1 |
T |
C |
2: 21,217,011 (GRCm39) |
V255A |
probably benign |
Het |
| Tmprss5 |
T |
A |
9: 49,020,757 (GRCm39) |
*84K |
probably null |
Het |
| Trrap |
C |
T |
5: 144,767,779 (GRCm39) |
L2579F |
possibly damaging |
Het |
| Vmn1r16 |
A |
T |
6: 57,299,716 (GRCm39) |
V302D |
possibly damaging |
Het |
| Wdr75 |
T |
A |
1: 45,857,420 (GRCm39) |
C572* |
probably null |
Het |
| Xpc |
A |
G |
6: 91,476,993 (GRCm39) |
S369P |
probably benign |
Het |
| Zdhhc20 |
A |
G |
14: 58,111,444 (GRCm39) |
V52A |
probably benign |
Het |
| Zfp977 |
T |
C |
7: 42,230,090 (GRCm39) |
Y145C |
probably damaging |
Het |
|
| Other mutations in Vdac1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation