Incidental Mutation 'R0045:Vac14'
| ID |
15589 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vac14
|
| Ensembl Gene |
ENSMUSG00000010936 |
| Gene Name |
Vac14 homolog (S. cerevisiae) |
| Synonyms |
Tax1bp2, Trx, D8Wsu151e, ingls |
| MMRRC Submission |
038339-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0045 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
111345217-111447030 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 111363584 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 340
(D340N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148548
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034190]
[ENSMUST00000212829]
[ENSMUST00000213003]
|
| AlphaFold |
Q80WQ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034190
AA Change: D340N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000034190
Gene: ENSMUSG00000010936
AA Change: D340N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vac14_Fab1_bd
|
67 |
163 |
5.3e-43 |
PFAM |
|
Pfam:Vac14_Fig4_bd
|
542 |
720 |
6.6e-82 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212663
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212766
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212829
AA Change: D340N
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213003
|
| Meta Mutation Damage Score |
0.0910 |
| Coding Region Coverage |
- 1x: 81.3%
- 3x: 72.5%
- 10x: 50.2%
- 20x: 29.9%
|
| Validation Efficiency |
92% (56/61) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The content of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) in endosomal membranes changes dynamically with fission and fusion events that generate or absorb intracellular transport vesicles. VAC14 is a component of a trimolecular complex that tightly regulates the level of PtdIns(3,5)P2. Other components of this complex are the PtdIns(3,5)P2-synthesizing enzyme PIKFYVE (MIM 609414) and the PtdIns(3,5)P2 phosphatase FIG4 (MIM 609390). VAC14 functions as an activator of PIKFYVE (Sbrissa et al., 2007 [PubMed 17556371]).[supplied by OMIM, Feb 2010]
PHENOTYPE: Mice homozygous for a null mutation display early postnatal lethality with lesions in multiple regions of the brain. Mice homozygous for a hypomorphic allele exhibit postnatal lethality, spongiform degeneration, enlarged brain ventricles and coat color dilution. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl1 |
T |
C |
7: 76,348,588 (GRCm39) |
|
probably null |
Het |
| Ap3b2 |
T |
C |
7: 81,115,941 (GRCm39) |
D650G |
possibly damaging |
Het |
| Arhgap30 |
A |
G |
1: 171,235,998 (GRCm39) |
S791G |
probably benign |
Het |
| Ascc3 |
C |
T |
10: 50,594,498 (GRCm39) |
R1198* |
probably null |
Het |
| Atf2 |
G |
T |
2: 73,660,200 (GRCm39) |
T189N |
probably benign |
Het |
| Atf7ip |
A |
G |
6: 136,536,814 (GRCm39) |
K16E |
probably damaging |
Het |
| C8a |
T |
C |
4: 104,684,012 (GRCm39) |
K368E |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,366,757 (GRCm39) |
Y241C |
probably damaging |
Het |
| Cdon |
G |
A |
9: 35,398,103 (GRCm39) |
S940N |
probably benign |
Het |
| Cds2 |
G |
T |
2: 132,147,075 (GRCm39) |
G402V |
possibly damaging |
Het |
| Cog6 |
T |
C |
3: 52,900,171 (GRCm39) |
|
probably null |
Het |
| Dram2 |
T |
C |
3: 106,478,133 (GRCm39) |
V155A |
possibly damaging |
Het |
| Exoc3l |
C |
T |
8: 106,020,317 (GRCm39) |
V203M |
probably damaging |
Het |
| Fsip1 |
C |
A |
2: 118,078,773 (GRCm39) |
|
probably null |
Het |
| Htra1 |
T |
A |
7: 130,563,262 (GRCm39) |
S164R |
probably damaging |
Het |
| Kcnq4 |
T |
A |
4: 120,555,152 (GRCm39) |
D677V |
probably damaging |
Het |
| Lcn5 |
T |
C |
2: 25,550,710 (GRCm39) |
S133P |
probably damaging |
Het |
| Liph |
T |
C |
16: 21,786,803 (GRCm39) |
Y271C |
probably damaging |
Het |
| Lpcat3 |
T |
C |
6: 124,678,437 (GRCm39) |
I228T |
probably benign |
Het |
| Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
| Pcsk6 |
T |
A |
7: 65,612,676 (GRCm39) |
C315S |
probably damaging |
Het |
| Rapgef4 |
A |
G |
2: 72,029,122 (GRCm39) |
H398R |
possibly damaging |
Het |
| Rpgrip1 |
A |
T |
14: 52,378,601 (GRCm39) |
T509S |
possibly damaging |
Het |
| Sh3pxd2a |
A |
G |
19: 47,255,622 (GRCm39) |
I1032T |
probably damaging |
Het |
| Tecta |
G |
A |
9: 42,286,487 (GRCm39) |
T723I |
probably damaging |
Het |
| Trpv4 |
A |
G |
5: 114,774,518 (GRCm39) |
S189P |
probably benign |
Het |
| Vars1 |
A |
T |
17: 35,229,595 (GRCm39) |
H404L |
probably damaging |
Het |
| Vps13a |
A |
T |
19: 16,618,174 (GRCm39) |
L693* |
probably null |
Het |
|
| Other mutations in Vac14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01154:Vac14
|
APN |
8 |
111,380,239 (GRCm39) |
splice site |
probably benign |
|
|
IGL01511:Vac14
|
APN |
8 |
111,439,430 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01724:Vac14
|
APN |
8 |
111,345,523 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
IGL01784:Vac14
|
APN |
8 |
111,397,800 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02086:Vac14
|
APN |
8 |
111,379,950 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02447:Vac14
|
APN |
8 |
111,380,260 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL02614:Vac14
|
APN |
8 |
111,361,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03059:Vac14
|
APN |
8 |
111,437,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03155:Vac14
|
APN |
8 |
111,362,975 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Bathwater
|
UTSW |
8 |
111,438,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ducky
|
UTSW |
8 |
111,363,104 (GRCm39) |
splice site |
probably null |
|
|
Rubber
|
UTSW |
8 |
111,397,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0045:Vac14
|
UTSW |
8 |
111,363,584 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0239:Vac14
|
UTSW |
8 |
111,362,007 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0239:Vac14
|
UTSW |
8 |
111,362,007 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0718:Vac14
|
UTSW |
8 |
111,359,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1696:Vac14
|
UTSW |
8 |
111,359,079 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1883:Vac14
|
UTSW |
8 |
111,438,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1884:Vac14
|
UTSW |
8 |
111,438,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1903:Vac14
|
UTSW |
8 |
111,409,166 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2764:Vac14
|
UTSW |
8 |
111,437,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3000:Vac14
|
UTSW |
8 |
111,360,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3498:Vac14
|
UTSW |
8 |
111,397,722 (GRCm39) |
missense |
probably benign |
|
|
R4898:Vac14
|
UTSW |
8 |
111,372,440 (GRCm39) |
missense |
probably benign |
|
|
R5030:Vac14
|
UTSW |
8 |
111,437,018 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5255:Vac14
|
UTSW |
8 |
111,360,961 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5918:Vac14
|
UTSW |
8 |
111,363,104 (GRCm39) |
splice site |
probably null |
|
|
R5930:Vac14
|
UTSW |
8 |
111,436,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7003:Vac14
|
UTSW |
8 |
111,439,430 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7092:Vac14
|
UTSW |
8 |
111,442,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7214:Vac14
|
UTSW |
8 |
111,397,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7327:Vac14
|
UTSW |
8 |
111,438,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7474:Vac14
|
UTSW |
8 |
111,363,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7741:Vac14
|
UTSW |
8 |
111,361,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8087:Vac14
|
UTSW |
8 |
111,446,532 (GRCm39) |
missense |
probably benign |
|
|
R8798:Vac14
|
UTSW |
8 |
111,446,519 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8981:Vac14
|
UTSW |
8 |
111,438,226 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9051:Vac14
|
UTSW |
8 |
111,379,869 (GRCm39) |
missense |
probably benign |
|
|
R9319:Vac14
|
UTSW |
8 |
111,361,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9358:Vac14
|
UTSW |
8 |
111,439,379 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9468:Vac14
|
UTSW |
8 |
111,397,738 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9518:Vac14
|
UTSW |
8 |
111,442,070 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2012-12-21 |
Incidental Mutation