Incidental Mutation 'IGL02086:Vac14'
ID |
285464 |
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 # |
IGL02086
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
111345217-111447030 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 111379950 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 416
(M416K)
|
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: M416K
PolyPhen 2
Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000034190 Gene: ENSMUSG00000010936 AA Change: M416K
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 |
possibly damaging
Transcript: ENSMUST00000212829
AA Change: M416K
PolyPhen 2
Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930426L09Rik |
T |
C |
2: 19,003,623 (GRCm39) |
|
probably benign |
Het |
Abi3bp |
A |
G |
16: 56,462,930 (GRCm39) |
|
probably benign |
Het |
Asb4 |
T |
C |
6: 5,398,386 (GRCm39) |
I117T |
probably benign |
Het |
Birc6 |
T |
G |
17: 74,946,822 (GRCm39) |
L2847R |
probably damaging |
Het |
C2cd2 |
A |
G |
16: 97,691,208 (GRCm39) |
|
probably benign |
Het |
Ccdc77 |
C |
A |
6: 120,316,119 (GRCm39) |
C186F |
possibly damaging |
Het |
Cd300ld2 |
T |
A |
11: 114,903,384 (GRCm39) |
|
probably benign |
Het |
Cd55b |
A |
T |
1: 130,345,919 (GRCm39) |
D166E |
probably benign |
Het |
Cfap100 |
A |
G |
6: 90,390,954 (GRCm39) |
F8L |
probably damaging |
Het |
Col2a1 |
C |
T |
15: 97,884,618 (GRCm39) |
|
probably null |
Het |
Dbf4 |
A |
G |
5: 8,453,189 (GRCm39) |
I270T |
probably benign |
Het |
Dkk3 |
T |
C |
7: 111,748,236 (GRCm39) |
S123G |
probably benign |
Het |
Ep400 |
A |
G |
5: 110,824,809 (GRCm39) |
|
probably benign |
Het |
Fam184a |
A |
G |
10: 53,575,351 (GRCm39) |
I30T |
probably damaging |
Het |
Fam20a |
T |
C |
11: 109,564,239 (GRCm39) |
I505V |
probably benign |
Het |
Fbh1 |
T |
C |
2: 11,768,938 (GRCm39) |
D285G |
probably benign |
Het |
Fcho1 |
T |
C |
8: 72,169,444 (GRCm39) |
E154G |
probably damaging |
Het |
Klhdc1 |
A |
G |
12: 69,329,958 (GRCm39) |
I362M |
probably benign |
Het |
Knl1 |
A |
T |
2: 118,931,255 (GRCm39) |
E1990D |
probably benign |
Het |
Lancl2 |
A |
G |
6: 57,711,024 (GRCm39) |
Y394C |
probably damaging |
Het |
Lgi2 |
G |
A |
5: 52,723,299 (GRCm39) |
S50F |
probably damaging |
Het |
Map2k7 |
A |
G |
8: 4,288,950 (GRCm39) |
E14G |
probably damaging |
Het |
Mga |
A |
G |
2: 119,754,517 (GRCm39) |
I1009V |
probably damaging |
Het |
Nat9 |
C |
A |
11: 115,074,234 (GRCm39) |
|
probably null |
Het |
Nek2 |
G |
A |
1: 191,563,401 (GRCm39) |
A422T |
probably benign |
Het |
Nfkbiz |
A |
T |
16: 55,636,034 (GRCm39) |
L509Q |
probably damaging |
Het |
Or56b2 |
A |
T |
7: 104,337,634 (GRCm39) |
R137S |
probably benign |
Het |
Pgap1 |
T |
A |
1: 54,587,147 (GRCm39) |
Q143L |
probably damaging |
Het |
Pkd1l3 |
C |
T |
8: 110,392,217 (GRCm39) |
T1937I |
probably damaging |
Het |
Pou1f1 |
A |
G |
16: 65,326,784 (GRCm39) |
E128G |
probably damaging |
Het |
Ppfia3 |
T |
C |
7: 44,989,996 (GRCm39) |
|
probably benign |
Het |
Prkd1 |
T |
C |
12: 50,434,046 (GRCm39) |
I566V |
probably benign |
Het |
Psd2 |
A |
G |
18: 36,138,959 (GRCm39) |
R528G |
probably damaging |
Het |
Ptprg |
G |
T |
14: 12,110,080 (GRCm38) |
E263* |
probably null |
Het |
Radil |
T |
C |
5: 142,529,576 (GRCm39) |
D40G |
probably benign |
Het |
Ryr2 |
T |
A |
13: 11,750,442 (GRCm39) |
Y1943F |
probably damaging |
Het |
Slc30a4 |
C |
T |
2: 122,543,947 (GRCm39) |
|
probably benign |
Het |
Slc31a1 |
A |
T |
4: 62,306,241 (GRCm39) |
T120S |
possibly damaging |
Het |
Snrpe |
A |
G |
1: 133,537,487 (GRCm39) |
|
probably benign |
Het |
Stx3 |
G |
T |
19: 11,796,046 (GRCm39) |
|
probably benign |
Het |
Thoc2l |
A |
G |
5: 104,666,867 (GRCm39) |
E463G |
possibly damaging |
Het |
Ufsp1 |
T |
A |
5: 137,293,178 (GRCm39) |
C43S |
probably damaging |
Het |
Vmn1r81 |
A |
C |
7: 11,993,792 (GRCm39) |
V272G |
possibly damaging |
Het |
Vmn2r107 |
T |
A |
17: 20,578,062 (GRCm39) |
I457K |
probably benign |
Het |
Vmn2r72 |
A |
T |
7: 85,387,374 (GRCm39) |
V730E |
probably benign |
Het |
Vmn2r9 |
T |
C |
5: 108,995,433 (GRCm39) |
Y405C |
probably damaging |
Het |
Zcchc17 |
T |
C |
4: 130,210,440 (GRCm39) |
*242W |
probably null |
Het |
Zfp503 |
T |
C |
14: 22,037,354 (GRCm39) |
K83R |
possibly 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 |
IGL01784:Vac14
|
APN |
8 |
111,397,800 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
2015-04-16 |