Incidental Mutation 'IGL01724:Vac14'
| ID |
105219 |
| 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 # |
IGL01724
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
111345217-111447030 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to A
at 111345523 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034190
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034190]
[ENSMUST00000212829]
[ENSMUST00000213003]
|
| AlphaFold |
Q80WQ2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034190
AA Change: M1K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034190
Gene: ENSMUSG00000010936
AA Change: M1K
| 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 null
Transcript: ENSMUST00000212829
AA Change: M1K
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000213003
AA Change: M1K
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
C |
T |
7: 28,947,321 (GRCm39) |
|
probably null |
Het |
| Abcc9 |
A |
G |
6: 142,610,259 (GRCm39) |
V635A |
probably benign |
Het |
| Adgre1 |
T |
A |
17: 57,751,064 (GRCm39) |
Y579* |
probably null |
Het |
| Adgrg3 |
T |
C |
8: 95,766,053 (GRCm39) |
F295L |
probably benign |
Het |
| Arhgap42 |
A |
T |
9: 8,998,254 (GRCm39) |
|
probably benign |
Het |
| Brd2 |
T |
A |
17: 34,335,976 (GRCm39) |
Q79L |
probably damaging |
Het |
| Brd2 |
C |
A |
17: 34,335,975 (GRCm39) |
Q79H |
probably damaging |
Het |
| Capn15 |
A |
G |
17: 26,181,037 (GRCm39) |
S705P |
probably damaging |
Het |
| Cebpz |
T |
A |
17: 79,243,342 (GRCm39) |
D104V |
probably benign |
Het |
| Chl1 |
T |
C |
6: 103,626,534 (GRCm39) |
I94T |
probably damaging |
Het |
| Csf2rb |
C |
T |
15: 78,220,614 (GRCm39) |
A52V |
probably damaging |
Het |
| Ddx27 |
T |
C |
2: 166,870,309 (GRCm39) |
L459P |
probably damaging |
Het |
| Dhtkd1 |
T |
C |
2: 5,919,651 (GRCm39) |
T577A |
probably benign |
Het |
| Dync2h1 |
G |
A |
9: 7,081,077 (GRCm39) |
T2873I |
probably benign |
Het |
| Emg1 |
A |
G |
6: 124,688,984 (GRCm39) |
F8S |
possibly damaging |
Het |
| Fermt3 |
A |
G |
19: 6,979,143 (GRCm39) |
I553T |
probably damaging |
Het |
| Gaa |
A |
G |
11: 119,165,947 (GRCm39) |
D419G |
possibly damaging |
Het |
| Hdac10 |
T |
C |
15: 89,008,912 (GRCm39) |
|
probably benign |
Het |
| Hsf1 |
T |
A |
15: 76,381,037 (GRCm39) |
V122E |
possibly damaging |
Het |
| Lig3 |
C |
A |
11: 82,681,448 (GRCm39) |
T480K |
possibly damaging |
Het |
| Magi1 |
T |
C |
6: 93,769,381 (GRCm39) |
|
probably null |
Het |
| Mcm2 |
G |
T |
6: 88,863,044 (GRCm39) |
H683N |
probably damaging |
Het |
| Ncapg2 |
G |
T |
12: 116,390,331 (GRCm39) |
A427S |
probably damaging |
Het |
| Nkd1 |
T |
C |
8: 89,248,923 (GRCm39) |
F23L |
probably damaging |
Het |
| Or9i2 |
G |
A |
19: 13,816,225 (GRCm39) |
T104M |
probably damaging |
Het |
| Pcdhb5 |
T |
G |
18: 37,454,075 (GRCm39) |
S152A |
probably benign |
Het |
| Pdx1 |
A |
T |
5: 147,211,217 (GRCm39) |
E146V |
probably damaging |
Het |
| Qrsl1 |
T |
C |
10: 43,750,604 (GRCm39) |
T485A |
probably benign |
Het |
| Slc17a4 |
A |
G |
13: 24,089,516 (GRCm39) |
Y134H |
probably benign |
Het |
| Slc24a4 |
A |
T |
12: 102,185,219 (GRCm39) |
M110L |
possibly damaging |
Het |
| Tent5a |
A |
G |
9: 85,207,103 (GRCm39) |
C232R |
probably damaging |
Het |
| Tnni3k |
T |
A |
3: 154,645,263 (GRCm39) |
I541F |
possibly damaging |
Het |
| Uhrf2 |
T |
C |
19: 30,052,652 (GRCm39) |
V382A |
probably benign |
Het |
| Virma |
A |
G |
4: 11,528,672 (GRCm39) |
E1303G |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,356,411 (GRCm39) |
V3724A |
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 |
|
|
IGL01511:Vac14
|
APN |
8 |
111,439,430 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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 |
2014-01-21 |
Incidental Mutation