Incidental Mutation 'R8981:Vac14'
ID |
683735 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vac14
|
Ensembl Gene |
ENSMUSG00000010936 |
Gene Name |
Vac14 homolog (S. cerevisiae) |
Synonyms |
Tax1bp2, Trx, D8Wsu151e, ingls |
MMRRC Submission |
068814-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8981 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
111345217-111447030 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 111438226 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 613
(E613G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034190
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034190]
[ENSMUST00000212829]
[ENSMUST00000213003]
|
AlphaFold |
Q80WQ2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034190
AA Change: E613G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000034190 Gene: ENSMUSG00000010936 AA Change: E613G
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 |
probably benign
Transcript: ENSMUST00000212829
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213003
|
Meta Mutation Damage Score |
0.4174 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
100% (33/33) |
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 |
Adam34 |
T |
A |
8: 44,103,840 (GRCm39) |
I602L |
probably benign |
Het |
Adarb2 |
C |
T |
13: 8,751,653 (GRCm39) |
R473C |
probably damaging |
Het |
Arrdc3 |
A |
G |
13: 81,038,669 (GRCm39) |
I210M |
probably damaging |
Het |
C1qb |
T |
C |
4: 136,608,033 (GRCm39) |
D110G |
probably benign |
Het |
Ccdc86 |
CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA |
CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA |
19: 10,926,162 (GRCm39) |
|
probably benign |
Het |
Ces1d |
A |
G |
8: 93,919,457 (GRCm39) |
F112L |
probably benign |
Het |
Cyp2j13 |
T |
A |
4: 95,965,527 (GRCm39) |
D60V |
possibly damaging |
Het |
Dcun1d5 |
T |
A |
9: 7,189,205 (GRCm39) |
M98K |
probably damaging |
Het |
Ecpas |
T |
A |
4: 58,801,796 (GRCm39) |
T1774S |
probably benign |
Het |
Exosc7 |
T |
C |
9: 122,942,365 (GRCm39) |
V12A |
probably benign |
Het |
Fcrl2 |
T |
C |
3: 87,164,677 (GRCm39) |
Y283C |
probably damaging |
Het |
Fgd6 |
A |
G |
10: 93,880,916 (GRCm39) |
D590G |
possibly damaging |
Het |
Gne |
T |
C |
4: 44,042,261 (GRCm39) |
N469S |
probably benign |
Het |
Ipo11 |
A |
T |
13: 107,061,633 (GRCm39) |
V9E |
probably benign |
Het |
Mad1l1 |
T |
C |
5: 140,300,813 (GRCm39) |
T28A |
probably benign |
Het |
Mcoln3 |
A |
G |
3: 145,827,554 (GRCm39) |
N3D |
probably benign |
Het |
Mprip |
A |
G |
11: 59,622,383 (GRCm39) |
K157E |
probably damaging |
Het |
Mthfr |
A |
T |
4: 148,139,451 (GRCm39) |
I588F |
probably benign |
Het |
Mup15 |
A |
T |
4: 61,357,825 (GRCm39) |
C15* |
probably null |
Het |
Myom1 |
A |
G |
17: 71,391,316 (GRCm39) |
T942A |
probably benign |
Het |
Myorg |
T |
C |
4: 41,498,209 (GRCm39) |
S474G |
possibly damaging |
Het |
Or10ag55-ps1 |
T |
C |
2: 87,115,561 (GRCm39) |
M309T |
probably benign |
Het |
Or2d3b |
T |
C |
7: 106,513,590 (GRCm39) |
F62L |
probably benign |
Het |
Phf11c |
G |
A |
14: 59,628,412 (GRCm39) |
S79L |
possibly damaging |
Het |
Pogz |
T |
A |
3: 94,786,226 (GRCm39) |
V938D |
probably damaging |
Het |
Ppip5k1 |
C |
T |
2: 121,158,121 (GRCm39) |
|
probably benign |
Het |
Pramel11 |
T |
A |
4: 143,623,646 (GRCm39) |
N176I |
probably benign |
Het |
Resf1 |
G |
A |
6: 149,227,997 (GRCm39) |
V348I |
probably benign |
Het |
Ric3 |
T |
C |
7: 108,657,043 (GRCm39) |
I100V |
probably damaging |
Het |
Rptor |
T |
G |
11: 119,734,508 (GRCm39) |
S504A |
possibly damaging |
Het |
Slc40a1 |
T |
C |
1: 45,948,580 (GRCm39) |
T567A |
probably benign |
Het |
Slfn14 |
A |
T |
11: 83,174,455 (GRCm39) |
F179I |
possibly damaging |
Het |
Spata31f1a |
T |
C |
4: 42,849,354 (GRCm39) |
H934R |
probably benign |
Het |
Susd1 |
A |
G |
4: 59,380,883 (GRCm39) |
V326A |
probably benign |
Het |
Thsd7b |
T |
C |
1: 129,523,187 (GRCm39) |
W74R |
possibly damaging |
Het |
Ugt3a1 |
T |
G |
15: 9,312,014 (GRCm39) |
S419A |
probably benign |
Het |
Vmn1r220 |
C |
A |
13: 23,368,423 (GRCm39) |
R91L |
probably damaging |
Het |
Vrk1 |
C |
T |
12: 106,036,953 (GRCm39) |
|
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTTGTGACAGCTCGTTCCCAG -3'
(R):5'- ATGACAGCTCCTTCCTGAAC -3'
Sequencing Primer
(F):5'- AGCTGGGCTGCCAAACAC -3'
(R):5'- TTGGTGATGTCCCAAGCC -3'
|
Posted On |
2021-10-11 |