Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01154:Vac14'

51847

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vac14

Ensembl Gene

ENSMUSG00000010936

Gene Name

Vac14 homolog (S. cerevisiae)

Synonyms

Tax1bp2, ingls, D8Wsu151e, Trx

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01154

Quality Score

Status

Chromosome

Chromosomal Location

110618585-110720398 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 110653607 bp (GRCm38)

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: 76,950,275	V124I	probably damaging	Het
2210408I21Rik	T	G	13: 77,281,094	F767V	probably benign	Het
A2m	C	A	6: 121,673,542	S1203*	probably null	Het
Abcc3	T	C	11: 94,359,232		probably benign	Het
Adamts13	T	C	2: 27,006,194	Y1200H	probably benign	Het
Aldh1l2	T	C	10: 83,520,373	D51G	probably damaging	Het
Apc2	A	G	10: 80,313,069	E1319G	possibly damaging	Het
Arap3	A	T	18: 37,996,734	S125T	probably benign	Het
Atp2b1	T	A	10: 98,996,888	V417E	probably damaging	Het
Bpifa1	T	A	2: 154,144,000	D78E	probably benign	Het
Catsperb	C	A	12: 101,625,681	A1090E	possibly damaging	Het
Ceacam9	C	A	7: 16,723,961	T138K	probably damaging	Het
Cenpf	T	A	1: 189,680,333	E244D	probably benign	Het
Cep135	A	T	5: 76,606,796		probably benign	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Col15a1	A	C	4: 47,208,450	T6P	possibly damaging	Het
Cyp11b1	T	A	15: 74,838,534	Q306L	probably benign	Het
Defa22	T	A	8: 21,163,037		probably null	Het
Dnah5	A	T	15: 28,458,656	T4480S	possibly damaging	Het
Fastkd1	T	C	2: 69,690,060		probably null	Het
Flt1	A	G	5: 147,576,156	Y1124H	possibly damaging	Het
Fsd1l	A	G	4: 53,701,074	M469V	probably benign	Het
Fxr2	T	C	11: 69,641,433		probably benign	Het
Gm10801	A	T	2: 98,663,983	Y135F	probably benign	Het
Grm4	A	T	17: 27,434,737	C699*	probably null	Het
Hcn4	A	G	9: 58,859,079	T677A	unknown	Het
Igkv9-123	G	T	6: 67,954,534		probably benign	Het
Irf4	T	A	13: 30,757,421	H253Q	possibly damaging	Het
Jakmip2	T	C	18: 43,590,679		probably benign	Het
Kmt2c	A	G	5: 25,284,399	V1134A	probably damaging	Het
Limch1	G	T	5: 66,745,958	E17*	probably null	Het
Nap1l1	T	A	10: 111,486,675	N72K	probably damaging	Het
Olfr1265	T	C	2: 90,037,468	L183P	probably damaging	Het
Olfr574	T	C	7: 102,948,839	S115P	probably damaging	Het
Otud6b	A	T	4: 14,811,732	Y304N	probably damaging	Het
Pdcd10	A	C	3: 75,541,233	M8R	probably damaging	Het
Ppip5k1	T	C	2: 121,343,179	T404A	probably damaging	Het
Ppp2r2d	C	T	7: 138,882,211	A197V	probably benign	Het
Psg25	C	T	7: 18,524,699	D351N	probably benign	Het
Sbno1	A	T	5: 124,410,249	I87N	probably damaging	Het
Stfa2l1	C	T	16: 36,159,937		probably benign	Het
Sugp2	T	A	8: 70,242,699	D107E	probably damaging	Het
Syne1	G	T	10: 5,360,848	F576L	probably damaging	Het
Syne3	A	G	12: 104,958,069	F357S	probably benign	Het
Tenm2	A	G	11: 36,041,544	L1741P	probably damaging	Het
Tgs1	A	T	4: 3,585,473	K117*	probably null	Het
Tram1	C	T	1: 13,579,449		probably null	Het
Trank1	T	A	9: 111,386,400	D1799E	probably benign	Het
Ttc14	A	T	3: 33,803,099	Y198F	probably benign	Het
Ube3b	A	G	5: 114,406,252	N570S	probably null	Het
Ube4b	A	G	4: 149,365,470	F412S	probably benign	Het
Vmn2r65	T	C	7: 84,943,521	T493A	probably benign	Het
Zfp408	T	C	2: 91,648,006		probably benign	Het
Zfp580	C	T	7: 5,053,268	T209I	possibly damaging	Het

Other mutations in Vac14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01511:Vac14	APN	8	110712798	missense	possibly damaging	0.93
IGL01724:Vac14	APN	8	110618891	start codon destroyed	probably null	1.00
IGL01784:Vac14	APN	8	110671168	missense	probably benign	0.00
IGL02086:Vac14	APN	8	110653318	missense	possibly damaging	0.74
IGL02447:Vac14	APN	8	110653628	missense	probably benign	0.39
IGL02614:Vac14	APN	8	110635118	missense	probably damaging	1.00
IGL03059:Vac14	APN	8	110710452	missense	probably damaging	1.00
IGL03155:Vac14	APN	8	110636343	missense	possibly damaging	0.90
Bathwater	UTSW	8	110711620	missense	probably damaging	1.00
ducky	UTSW	8	110636472	splice site	probably null
Rubber	UTSW	8	110671042	missense	probably damaging	1.00
R0045:Vac14	UTSW	8	110636952	missense	probably benign	0.00
R0045:Vac14	UTSW	8	110636952	missense	probably benign	0.00
R0239:Vac14	UTSW	8	110635375	critical splice acceptor site	probably null
R0239:Vac14	UTSW	8	110635375	critical splice acceptor site	probably null
R0718:Vac14	UTSW	8	110632477	missense	probably damaging	1.00
R1696:Vac14	UTSW	8	110632447	critical splice acceptor site	probably null
R1883:Vac14	UTSW	8	110711687	missense	probably damaging	1.00
R1884:Vac14	UTSW	8	110711687	missense	probably damaging	1.00
R1903:Vac14	UTSW	8	110682534	missense	probably benign	0.04
R2764:Vac14	UTSW	8	110710455	missense	probably damaging	1.00
R3000:Vac14	UTSW	8	110634317	missense	probably damaging	1.00
R3498:Vac14	UTSW	8	110671090	missense	probably benign
R4898:Vac14	UTSW	8	110645808	missense	probably benign
R5030:Vac14	UTSW	8	110710386	missense	possibly damaging	0.66
R5255:Vac14	UTSW	8	110634329	missense	probably damaging	0.99
R5918:Vac14	UTSW	8	110636472	splice site	probably null
R5930:Vac14	UTSW	8	110710349	missense	probably damaging	1.00
R7003:Vac14	UTSW	8	110712798	missense	probably damaging	0.99
R7092:Vac14	UTSW	8	110715496	missense	probably damaging	1.00
R7214:Vac14	UTSW	8	110671042	missense	probably damaging	1.00
R7327:Vac14	UTSW	8	110711620	missense	probably damaging	1.00
R7474:Vac14	UTSW	8	110636434	missense	probably damaging	1.00
R7741:Vac14	UTSW	8	110634388	missense	probably damaging	1.00
R8087:Vac14	UTSW	8	110719900	missense	probably benign
R8798:Vac14	UTSW	8	110719887	missense	probably benign	0.18
R8981:Vac14	UTSW	8	110711594	missense	probably damaging	0.99
R9051:Vac14	UTSW	8	110653237	missense	probably benign
R9319:Vac14	UTSW	8	110634386	missense	probably damaging	1.00
R9358:Vac14	UTSW	8	110712747	critical splice acceptor site	probably null
R9468:Vac14	UTSW	8	110671106	missense	probably benign	0.00
R9518:Vac14	UTSW	8	110715438	nonsense	probably null

Posted On

2013-06-21