Incidental Mutation 'IGL01511:Vac14'
ID |
89228 |
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 # |
IGL01511
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
111345217-111447030 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 111439430 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 669
(V669A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034190
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034190]
[ENSMUST00000212829]
[ENSMUST00000213003]
|
AlphaFold |
Q80WQ2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034190
AA Change: V669A
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000034190 Gene: ENSMUSG00000010936 AA Change: V669A
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
A |
T |
11: 110,135,136 (GRCm39) |
D216E |
probably benign |
Het |
Abcc4 |
C |
A |
14: 118,836,753 (GRCm39) |
L669F |
probably benign |
Het |
Adam29 |
C |
T |
8: 56,324,456 (GRCm39) |
G666D |
probably damaging |
Het |
Adat2 |
T |
G |
10: 13,435,982 (GRCm39) |
M109R |
probably null |
Het |
Atf3 |
T |
A |
1: 190,903,693 (GRCm39) |
T178S |
probably benign |
Het |
Birc6 |
T |
A |
17: 74,933,998 (GRCm39) |
Y2522* |
probably null |
Het |
Ccr8 |
G |
A |
9: 119,923,691 (GRCm39) |
G269R |
probably damaging |
Het |
Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
Chrna4 |
C |
T |
2: 180,670,461 (GRCm39) |
V432I |
probably benign |
Het |
Commd8 |
A |
G |
5: 72,322,722 (GRCm39) |
V65A |
probably benign |
Het |
Cyp2j13 |
A |
G |
4: 95,965,552 (GRCm39) |
F52L |
possibly damaging |
Het |
Desi1 |
T |
A |
15: 81,886,789 (GRCm39) |
K45* |
probably null |
Het |
Dmbt1 |
T |
A |
7: 130,718,457 (GRCm39) |
M1552K |
possibly damaging |
Het |
Dna2 |
G |
A |
10: 62,791,093 (GRCm39) |
M197I |
possibly damaging |
Het |
Dnah7a |
A |
C |
1: 53,458,754 (GRCm39) |
L3795V |
probably damaging |
Het |
Dnai4 |
T |
C |
4: 102,905,558 (GRCm39) |
D741G |
possibly damaging |
Het |
Fam221b |
T |
C |
4: 43,660,135 (GRCm39) |
|
probably null |
Het |
Fbxw18 |
A |
T |
9: 109,517,889 (GRCm39) |
S366T |
possibly damaging |
Het |
Fzd8 |
A |
G |
18: 9,213,293 (GRCm39) |
Y125C |
unknown |
Het |
Gcsam |
T |
C |
16: 45,436,315 (GRCm39) |
Y11H |
probably damaging |
Het |
Gucy2f |
G |
T |
X: 140,944,730 (GRCm39) |
D410E |
probably damaging |
Het |
Hdac3 |
C |
T |
18: 38,085,648 (GRCm39) |
A53T |
probably benign |
Het |
Lamp2 |
A |
G |
X: 37,520,752 (GRCm39) |
L244P |
probably damaging |
Het |
Lrrk1 |
A |
T |
7: 65,915,198 (GRCm39) |
F1630Y |
possibly damaging |
Het |
M1ap |
C |
A |
6: 83,005,393 (GRCm39) |
D434E |
probably benign |
Het |
Mcmbp |
A |
G |
7: 128,308,888 (GRCm39) |
Y378H |
probably damaging |
Het |
Mvb12a |
T |
A |
8: 71,997,946 (GRCm39) |
V120E |
probably damaging |
Het |
Nbeal2 |
A |
C |
9: 110,458,302 (GRCm39) |
W2063G |
probably damaging |
Het |
Neto1 |
A |
C |
18: 86,414,033 (GRCm39) |
H9P |
possibly damaging |
Het |
Nmu |
C |
T |
5: 76,488,668 (GRCm39) |
V126M |
probably damaging |
Het |
Odf2 |
T |
C |
2: 29,804,321 (GRCm39) |
|
probably benign |
Het |
Or2y15 |
A |
G |
11: 49,351,043 (GRCm39) |
E179G |
probably damaging |
Het |
Pdzrn3 |
T |
C |
6: 101,130,217 (GRCm39) |
H533R |
possibly damaging |
Het |
Pikfyve |
G |
T |
1: 65,298,028 (GRCm39) |
E1586* |
probably null |
Het |
Plcb3 |
C |
A |
19: 6,933,211 (GRCm39) |
R970L |
probably damaging |
Het |
Plxna3 |
A |
G |
X: 73,378,914 (GRCm39) |
E686G |
probably damaging |
Het |
Polrmt |
T |
A |
10: 79,575,985 (GRCm39) |
Y586F |
probably benign |
Het |
Ppt1 |
T |
A |
4: 122,748,218 (GRCm39) |
F225I |
probably damaging |
Het |
Prcc |
T |
G |
3: 87,779,548 (GRCm39) |
D162A |
probably damaging |
Het |
Ripor1 |
T |
C |
8: 106,346,562 (GRCm39) |
|
probably benign |
Het |
Rnaseh1 |
A |
G |
12: 28,709,008 (GRCm39) |
H263R |
probably damaging |
Het |
Rnf19b |
T |
A |
4: 128,974,211 (GRCm39) |
S490R |
probably damaging |
Het |
Slc15a2 |
T |
A |
16: 36,605,088 (GRCm39) |
T23S |
probably damaging |
Het |
Slc34a1 |
T |
C |
13: 24,003,121 (GRCm39) |
|
probably null |
Het |
Slc35f4 |
T |
C |
14: 49,536,334 (GRCm39) |
M434V |
probably benign |
Het |
Slc52a3 |
C |
T |
2: 151,846,564 (GRCm39) |
T175I |
probably benign |
Het |
Slc5a2 |
C |
T |
7: 127,869,794 (GRCm39) |
T409M |
probably benign |
Het |
Tbc1d24 |
A |
G |
17: 24,400,892 (GRCm39) |
S108P |
probably benign |
Het |
Thnsl2 |
T |
G |
6: 71,116,777 (GRCm39) |
Q125P |
probably benign |
Het |
Ttc13 |
T |
C |
8: 125,403,110 (GRCm39) |
D672G |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,584,089 (GRCm39) |
H14013N |
possibly damaging |
Het |
Unc5a |
T |
C |
13: 55,152,629 (GRCm39) |
F792L |
probably damaging |
Het |
Vmn1r13 |
A |
T |
6: 57,187,314 (GRCm39) |
M158L |
probably benign |
Het |
Vmn1r220 |
A |
T |
13: 23,368,384 (GRCm39) |
V104D |
probably damaging |
Het |
Zfp738 |
A |
T |
13: 67,831,520 (GRCm39) |
|
probably null |
Het |
Zscan5b |
A |
C |
7: 6,234,421 (GRCm39) |
H149P |
probably benign |
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 |
|
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 |
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 |
2013-12-03 |