Incidental Mutation 'IGL01154:Vac14'
| ID |
51847 |
| 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 # |
IGL01154
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
111345217-111447030 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 111380239 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148440
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034190]
[ENSMUST00000212829]
[ENSMUST00000213003]
|
| AlphaFold |
Q80WQ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034190
|
| SMART Domains |
Protein: ENSMUSP00000034190
Gene: ENSMUSG00000010936
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| 2210408I21Rik |
T |
G |
13: 77,429,213 (GRCm39) |
F767V |
probably benign |
Het |
| A2m |
C |
A |
6: 121,650,501 (GRCm39) |
S1203* |
probably null |
Het |
| Abcc3 |
T |
C |
11: 94,250,058 (GRCm39) |
|
probably benign |
Het |
| Adamts13 |
T |
C |
2: 26,896,206 (GRCm39) |
Y1200H |
probably benign |
Het |
| Aldh1l2 |
T |
C |
10: 83,356,237 (GRCm39) |
D51G |
probably damaging |
Het |
| Apc2 |
A |
G |
10: 80,148,903 (GRCm39) |
E1319G |
possibly damaging |
Het |
| Arap3 |
A |
T |
18: 38,129,787 (GRCm39) |
S125T |
probably benign |
Het |
| Atp2b1 |
T |
A |
10: 98,832,750 (GRCm39) |
V417E |
probably damaging |
Het |
| Bpifa1 |
T |
A |
2: 153,985,920 (GRCm39) |
D78E |
probably benign |
Het |
| Catsperb |
C |
A |
12: 101,591,940 (GRCm39) |
A1090E |
possibly damaging |
Het |
| Ceacam9 |
C |
A |
7: 16,457,886 (GRCm39) |
T138K |
probably damaging |
Het |
| Cenpf |
T |
A |
1: 189,412,530 (GRCm39) |
E244D |
probably benign |
Het |
| Cep135 |
A |
T |
5: 76,754,643 (GRCm39) |
|
probably benign |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Col15a1 |
A |
C |
4: 47,208,450 (GRCm39) |
T6P |
possibly damaging |
Het |
| Cyp11b1 |
T |
A |
15: 74,710,383 (GRCm39) |
Q306L |
probably benign |
Het |
| Defa22 |
T |
A |
8: 21,653,053 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
A |
T |
15: 28,458,802 (GRCm39) |
T4480S |
possibly damaging |
Het |
| Fastkd1 |
T |
C |
2: 69,520,404 (GRCm39) |
|
probably null |
Het |
| Flt1 |
A |
G |
5: 147,512,966 (GRCm39) |
Y1124H |
possibly damaging |
Het |
| Fsd1l |
A |
G |
4: 53,701,074 (GRCm39) |
M469V |
probably benign |
Het |
| Fxr2 |
T |
C |
11: 69,532,259 (GRCm39) |
|
probably benign |
Het |
| Gm10801 |
A |
T |
2: 98,494,328 (GRCm39) |
Y135F |
probably benign |
Het |
| Grm4 |
A |
T |
17: 27,653,711 (GRCm39) |
C699* |
probably null |
Het |
| Hcn4 |
A |
G |
9: 58,766,362 (GRCm39) |
T677A |
unknown |
Het |
| Igkv9-123 |
G |
T |
6: 67,931,518 (GRCm39) |
|
probably benign |
Het |
| Irf4 |
T |
A |
13: 30,941,404 (GRCm39) |
H253Q |
possibly damaging |
Het |
| Jakmip2 |
T |
C |
18: 43,723,744 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,489,397 (GRCm39) |
V1134A |
probably damaging |
Het |
| Limch1 |
G |
T |
5: 66,903,301 (GRCm39) |
E17* |
probably null |
Het |
| Nap1l1 |
T |
A |
10: 111,322,536 (GRCm39) |
N72K |
probably damaging |
Het |
| Or4x11 |
T |
C |
2: 89,867,812 (GRCm39) |
L183P |
probably damaging |
Het |
| Or51t4 |
T |
C |
7: 102,598,046 (GRCm39) |
S115P |
probably damaging |
Het |
| Otud6b |
A |
T |
4: 14,811,732 (GRCm39) |
Y304N |
probably damaging |
Het |
| Pdcd10 |
A |
C |
3: 75,448,540 (GRCm39) |
M8R |
probably damaging |
Het |
| Ppip5k1 |
T |
C |
2: 121,173,660 (GRCm39) |
T404A |
probably damaging |
Het |
| Ppp2r2d |
C |
T |
7: 138,483,940 (GRCm39) |
A197V |
probably benign |
Het |
| Psg25 |
C |
T |
7: 18,258,624 (GRCm39) |
D351N |
probably benign |
Het |
| Sbno1 |
A |
T |
5: 124,548,312 (GRCm39) |
I87N |
probably damaging |
Het |
| Stfa2l1 |
C |
T |
16: 35,980,307 (GRCm39) |
|
probably benign |
Het |
| Sugp2 |
T |
A |
8: 70,695,349 (GRCm39) |
D107E |
probably damaging |
Het |
| Syne1 |
G |
T |
10: 5,310,848 (GRCm39) |
F576L |
probably damaging |
Het |
| Syne3 |
A |
G |
12: 104,924,328 (GRCm39) |
F357S |
probably benign |
Het |
| Tenm2 |
A |
G |
11: 35,932,371 (GRCm39) |
L1741P |
probably damaging |
Het |
| Tgs1 |
A |
T |
4: 3,585,473 (GRCm39) |
K117* |
probably null |
Het |
| Tram1 |
C |
T |
1: 13,649,673 (GRCm39) |
|
probably null |
Het |
| Trank1 |
T |
A |
9: 111,215,468 (GRCm39) |
D1799E |
probably benign |
Het |
| Ttc14 |
A |
T |
3: 33,857,248 (GRCm39) |
Y198F |
probably benign |
Het |
| Ube3b |
A |
G |
5: 114,544,313 (GRCm39) |
N570S |
probably null |
Het |
| Ube4b |
A |
G |
4: 149,449,927 (GRCm39) |
F412S |
probably benign |
Het |
| Vmn2r65 |
T |
C |
7: 84,592,729 (GRCm39) |
T493A |
probably benign |
Het |
| Zfp408 |
T |
C |
2: 91,478,351 (GRCm39) |
|
probably benign |
Het |
| Zfp580 |
C |
T |
7: 5,056,267 (GRCm39) |
T209I |
possibly damaging |
Het |
|
| Other mutations in Vac14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation