Mutagenetix > Incidental Mutation

Incidental Mutation 'R0045:Vac14'

32767

Institutional Source

Beutler Lab

Gene Symbol

Vac14

Ensembl Gene

ENSMUSG00000010936

Gene Name

Vac14 homolog (S. cerevisiae)

Synonyms

Tax1bp2, Trx, D8Wsu151e, ingls

MMRRC Submission

038339-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0045 (G1)

Quality Score

130

Status

Validated

Chromosome

Chromosomal Location

111345217-111447030 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 111363584 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 340 (D340N)

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: D340N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034190
Gene: ENSMUSG00000010936
AA Change: D340N

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
AA Change: D340N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000213003

Meta Mutation Damage Score

0.0910

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.1%

Validation Efficiency

100% (75/75)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,220,148 (GRCm39)	N299S	probably damaging	Het
Abi3	A	G	11: 95,723,541 (GRCm39)	*368R	probably null	Het
Agbl1	T	C	7: 76,348,588 (GRCm39)		probably null	Het
Ap3b2	T	C	7: 81,115,941 (GRCm39)	D650G	possibly damaging	Het
Arhgap30	A	G	1: 171,235,998 (GRCm39)	S791G	probably benign	Het
Arvcf	T	A	16: 18,222,208 (GRCm39)	L722Q	probably benign	Het
Ascc3	C	T	10: 50,594,498 (GRCm39)	R1198*	probably null	Het
Atf2	G	T	2: 73,660,200 (GRCm39)	T189N	probably benign	Het
Atf7ip	A	G	6: 136,536,814 (GRCm39)	K16E	probably damaging	Het
Atg9b	G	T	5: 24,592,396 (GRCm39)	Q621K	probably damaging	Het
Atp12a	G	A	14: 56,610,330 (GRCm39)	E234K	probably damaging	Het
C8a	T	C	4: 104,684,012 (GRCm39)	K368E	probably benign	Het
Ccdc168	T	C	1: 44,096,365 (GRCm39)	K1578E	probably benign	Het
Cdh23	T	C	10: 60,366,757 (GRCm39)	Y241C	probably damaging	Het
Cdon	G	A	9: 35,398,103 (GRCm39)	S940N	probably benign	Het
Cds2	G	T	2: 132,147,075 (GRCm39)	G402V	possibly damaging	Het
Cog6	T	C	3: 52,900,171 (GRCm39)		probably null	Het
Commd10	T	C	18: 47,100,903 (GRCm39)	S114P	possibly damaging	Het
Dram2	T	C	3: 106,478,133 (GRCm39)	V155A	possibly damaging	Het
Egr2	T	A	10: 67,376,310 (GRCm39)	V252E	probably benign	Het
Exoc3l	C	T	8: 106,020,317 (GRCm39)	V203M	probably damaging	Het
Fsip1	C	A	2: 118,078,773 (GRCm39)		probably null	Het
Gm10840	C	A	11: 106,051,926 (GRCm39)		probably benign	Het
Gpr37l1	A	G	1: 135,088,883 (GRCm39)	L394P	probably damaging	Het
Gsap	T	C	5: 21,431,830 (GRCm39)	M243T	possibly damaging	Het
Hsd3b5	T	A	3: 98,526,460 (GRCm39)	I329F	probably benign	Het
Htra1	T	A	7: 130,563,262 (GRCm39)	S164R	probably damaging	Het
Il17b	G	A	18: 61,823,315 (GRCm39)	V50M	probably damaging	Het
Itga4	A	T	2: 79,131,375 (GRCm39)	Y581F	probably damaging	Het
Jmjd8	A	G	17: 26,048,255 (GRCm39)	E92G	probably damaging	Het
Kcnq4	T	A	4: 120,555,152 (GRCm39)	D677V	probably damaging	Het
Klhl42	A	G	6: 146,993,666 (GRCm39)	T213A	probably benign	Het
Lcn5	T	C	2: 25,550,710 (GRCm39)	S133P	probably damaging	Het
Liph	T	C	16: 21,786,803 (GRCm39)	Y271C	probably damaging	Het
Lpcat3	T	C	6: 124,678,437 (GRCm39)	I228T	probably benign	Het
Lrrd1	A	G	5: 3,916,418 (GRCm39)	K812E	possibly damaging	Het
Ltbp2	T	C	12: 84,860,062 (GRCm39)	T631A	probably damaging	Het
Ltbp2	G	A	12: 84,856,361 (GRCm39)	T701I	probably damaging	Het
Mavs	G	A	2: 131,080,751 (GRCm39)	R13Q	probably damaging	Het
Mtor	C	G	4: 148,549,406 (GRCm39)	H597D	probably benign	Het
Muc5b	T	A	7: 141,410,555 (GRCm39)	H1309Q	unknown	Het
Myl3	A	C	9: 110,596,997 (GRCm39)	D119A	probably damaging	Het
Nnat	A	T	2: 157,402,408 (GRCm39)		probably benign	Het
Or14c40	T	C	7: 86,313,548 (GRCm39)	L226S	possibly damaging	Het
Or2ag19	T	A	7: 106,444,596 (GRCm39)	Y259*	probably null	Het
Or5h17	G	A	16: 58,820,854 (GRCm39)	D269N	probably benign	Het
Or7e175	A	T	9: 20,048,487 (GRCm39)	Q25L	probably benign	Het
Pclo	C	T	5: 14,589,485 (GRCm39)	A595V	unknown	Het
Pcsk6	T	A	7: 65,612,676 (GRCm39)	C315S	probably damaging	Het
Pkd2	T	A	5: 104,603,671 (GRCm39)		probably benign	Het
Ppp2r3c	T	A	12: 55,340,606 (GRCm39)	I155F	probably damaging	Het
Rapgef4	A	G	2: 72,029,122 (GRCm39)	H398R	possibly damaging	Het
Ripor2	A	G	13: 24,878,209 (GRCm39)	D328G	probably damaging	Het
Rpgrip1	A	T	14: 52,378,601 (GRCm39)	T509S	possibly damaging	Het
Sh3pxd2a	A	G	19: 47,255,622 (GRCm39)	I1032T	probably damaging	Het
Slc25a13	A	T	6: 6,109,277 (GRCm39)	S362T	probably benign	Het
Stk35	A	T	2: 129,642,488 (GRCm39)	R10*	probably null	Het
Tal1	A	G	4: 114,925,762 (GRCm39)	D277G	probably damaging	Het
Tecta	G	A	9: 42,286,487 (GRCm39)	T723I	probably damaging	Het
Trp53bp1	A	C	2: 121,034,978 (GRCm39)	V103G	probably benign	Het
Trpv4	A	G	5: 114,774,518 (GRCm39)	S189P	probably benign	Het
Ttll5	T	G	12: 85,926,133 (GRCm39)		probably benign	Het
Usp8	A	G	2: 126,584,143 (GRCm39)	T451A	probably benign	Het
Vars1	C	A	17: 35,217,042 (GRCm39)	A471S	probably benign	Het
Vars1	A	T	17: 35,229,595 (GRCm39)	H404L	probably damaging	Het
Vmn2r70	T	C	7: 85,215,252 (GRCm39)	N94S	probably damaging	Het
Vpreb1b	T	C	16: 17,798,631 (GRCm39)	L39P	probably damaging	Het
Vps13a	A	T	19: 16,618,174 (GRCm39)	L693*	probably null	Het
Wapl	A	G	14: 34,455,751 (GRCm39)	I176V	probably benign	Het
Wdr31	G	T	4: 62,382,270 (GRCm39)	L4I	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGCAGCAATCTCATGTGCCAAGG -3'
(R):5'- TGCAGGAGTGGGCTAACAACTAAAC -3'

Sequencing Primer
(F):5'- GGACTATCTCACAAGGGTGC -3'
(R):5'- GGGCTAACAACTAAACGAGTCAAC -3'

Posted On

2013-05-09