Incidental Mutation 'IGL01784:Vac14'
ID |
154247 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Vac14
|
Ensembl Gene |
ENSMUSG00000010936 |
Gene Name |
Vac14 homolog (S. cerevisiae) |
Synonyms |
Tax1bp2, Trx, D8Wsu151e, ingls |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01784
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
111345217-111447030 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 111397800 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 505
(L505P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034190
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034190]
[ENSMUST00000212829]
[ENSMUST00000213003]
|
AlphaFold |
Q80WQ2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034190
AA Change: L505P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000034190 Gene: ENSMUSG00000010936 AA Change: L505P
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213003
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213015
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810021J22Rik |
C |
T |
11: 58,771,445 (GRCm39) |
P309L |
possibly damaging |
Het |
Abca4 |
A |
T |
3: 121,932,154 (GRCm39) |
K269N |
probably benign |
Het |
Abcb5 |
T |
C |
12: 118,854,399 (GRCm39) |
T839A |
probably benign |
Het |
Adcy7 |
A |
G |
8: 89,040,751 (GRCm39) |
D30G |
probably damaging |
Het |
Aldh3b1 |
A |
G |
19: 3,971,217 (GRCm39) |
I149T |
probably benign |
Het |
Ap3b1 |
A |
G |
13: 94,630,247 (GRCm39) |
D199G |
probably damaging |
Het |
Cplx3 |
T |
C |
9: 57,527,847 (GRCm39) |
Y36C |
probably damaging |
Het |
Ddo |
A |
G |
10: 40,507,784 (GRCm39) |
|
probably benign |
Het |
Ensa |
T |
A |
3: 95,535,844 (GRCm39) |
|
probably benign |
Het |
Etnppl |
A |
G |
3: 130,425,427 (GRCm39) |
I405V |
possibly damaging |
Het |
Fam171b |
T |
A |
2: 83,710,031 (GRCm39) |
L568M |
possibly damaging |
Het |
Fmn2 |
A |
G |
1: 174,329,994 (GRCm39) |
D128G |
unknown |
Het |
Fra10ac1 |
T |
A |
19: 38,208,125 (GRCm39) |
H43L |
probably benign |
Het |
Gm7589 |
T |
C |
9: 59,053,310 (GRCm39) |
|
noncoding transcript |
Het |
Gsx1 |
A |
G |
5: 147,126,939 (GRCm39) |
D254G |
probably benign |
Het |
Hoxb6 |
A |
G |
11: 96,191,639 (GRCm39) |
E187G |
probably damaging |
Het |
Kmt2c |
A |
T |
5: 25,518,524 (GRCm39) |
I2385N |
probably damaging |
Het |
Mc3r |
T |
A |
2: 172,091,290 (GRCm39) |
C171S |
probably benign |
Het |
Mccc1 |
T |
G |
3: 36,030,897 (GRCm39) |
N390H |
probably damaging |
Het |
Mphosph9 |
T |
C |
5: 124,403,373 (GRCm39) |
|
probably benign |
Het |
Nfic |
T |
C |
10: 81,241,982 (GRCm39) |
D364G |
possibly damaging |
Het |
Niban1 |
T |
A |
1: 151,525,116 (GRCm39) |
Y174N |
probably damaging |
Het |
Npy |
A |
G |
6: 49,806,314 (GRCm39) |
|
probably benign |
Het |
Or6c8 |
C |
T |
10: 128,915,224 (GRCm39) |
V203M |
probably benign |
Het |
Osbpl3 |
A |
G |
6: 50,321,902 (GRCm39) |
S75P |
probably damaging |
Het |
Plekhg4 |
G |
T |
8: 106,105,589 (GRCm39) |
A685S |
probably damaging |
Het |
Pramel51 |
A |
G |
12: 88,143,085 (GRCm39) |
Y178H |
probably benign |
Het |
Prss53 |
T |
C |
7: 127,485,724 (GRCm39) |
T539A |
probably benign |
Het |
Rnf43 |
T |
A |
11: 87,622,632 (GRCm39) |
S537T |
possibly damaging |
Het |
Rpgrip1l |
G |
A |
8: 91,997,089 (GRCm39) |
T597I |
possibly damaging |
Het |
Rtn4 |
C |
A |
11: 29,657,291 (GRCm39) |
Q482K |
probably damaging |
Het |
Sema3g |
T |
C |
14: 30,944,924 (GRCm39) |
I349T |
probably damaging |
Het |
Sh3gl1 |
A |
C |
17: 56,326,325 (GRCm39) |
S108A |
possibly damaging |
Het |
Tmc7 |
A |
T |
7: 118,146,538 (GRCm39) |
|
probably null |
Het |
Tmem131 |
G |
A |
1: 36,854,564 (GRCm39) |
T131I |
probably damaging |
Het |
Wasf2 |
A |
G |
4: 132,919,439 (GRCm39) |
Q231R |
unknown |
Het |
Wnt7a |
A |
G |
6: 91,342,839 (GRCm39) |
C348R |
probably damaging |
Het |
Zkscan6 |
T |
A |
11: 65,705,547 (GRCm39) |
L86Q |
probably damaging |
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 |
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 |
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 |
2014-02-04 |