Mutagenetix > Incidental Mutation

Incidental Mutation 'R7214:Vac14'

561312

Institutional Source

Beutler Lab

Gene Symbol

Vac14

Ensembl Gene

ENSMUSG00000010936

Gene Name

Vac14 homolog (S. cerevisiae)

Synonyms

Tax1bp2, Trx, D8Wsu151e, ingls

MMRRC Submission

045286-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7214 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

111345217-111447030 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 111397674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 463 (L463R)

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: L463R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034190
Gene: ENSMUSG00000010936
AA Change: L463R

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

0.8197

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg5	C	T	8: 95,660,646 (GRCm39)	T95I		Het
Arap2	C	T	5: 62,906,681 (GRCm39)	V113I	probably benign	Het
Atraid	C	T	5: 31,209,590 (GRCm39)	Q85*	probably null	Het
Bcdin3d	T	C	15: 99,368,344 (GRCm39)	D285G	probably benign	Het
Bmal1	T	A	7: 112,898,610 (GRCm39)	I346K	probably benign	Het
Carmil3	T	C	14: 55,736,069 (GRCm39)	W604R	probably damaging	Het
Ccl6	C	T	11: 83,480,582 (GRCm39)		probably null	Het
Cct4	C	T	11: 22,940,616 (GRCm39)		probably benign	Het
Cd2ap	C	T	17: 43,156,285 (GRCm39)	R84Q	possibly damaging	Het
Cdt1	T	A	8: 123,295,012 (GRCm39)		probably null	Het
Cln3	C	T	7: 126,181,942 (GRCm39)	G40D	probably damaging	Het
Crlf3	T	C	11: 79,955,216 (GRCm39)	S47G	possibly damaging	Het
Csrp3	T	C	7: 48,480,385 (GRCm39)	K193R	probably benign	Het
Cxcl3	A	C	5: 90,934,219 (GRCm39)	E33A	probably damaging	Het
Cyp11b1	T	C	15: 74,708,708 (GRCm39)	D362G	probably benign	Het
Dnah2	T	C	11: 69,321,935 (GRCm39)	D3795G	probably damaging	Het
Dnah3	G	A	7: 119,521,965 (GRCm39)	A4076V	probably damaging	Het
Dnaja3	T	A	16: 4,519,046 (GRCm39)	I380N	possibly damaging	Het
Dock10	T	A	1: 80,546,246 (GRCm39)	H785L	probably benign	Het
Dop1b	T	G	16: 93,607,023 (GRCm39)	F2226V	possibly damaging	Het
Dscaml1	A	T	9: 45,581,437 (GRCm39)	I419F	probably benign	Het
Dyrk4	T	A	6: 126,862,200 (GRCm39)	I431F	probably benign	Het
Endog	C	T	2: 30,062,902 (GRCm39)	R181C	probably damaging	Het
Fam90a1a	A	T	8: 22,453,641 (GRCm39)	Y332F	probably benign	Het
Fastkd3	T	C	13: 68,737,499 (GRCm39)	I588T	probably benign	Het
Galnt9	G	A	5: 110,737,694 (GRCm39)	V217I	probably benign	Het
Gm973	A	T	1: 59,601,888 (GRCm39)	R501*	probably null	Het
Gnptab	C	T	10: 88,215,019 (GRCm39)		probably benign	Het
Gpn1	T	C	5: 31,660,761 (GRCm39)	F184S	probably damaging	Het
Imp3	G	T	9: 56,845,007 (GRCm39)	V73L	probably benign	Het
Ipo11	T	C	13: 107,032,365 (GRCm39)	D259G	probably null	Het
Jag1	T	C	2: 136,948,802 (GRCm39)	S142G	probably benign	Het
Klhl5	A	T	5: 65,289,098 (GRCm39)	E120V	probably benign	Het
Lct	C	A	1: 128,228,197 (GRCm39)	V1099L	probably benign	Het
Lrba	G	C	3: 86,235,633 (GRCm39)	W912C	probably damaging	Het
Lss	C	T	10: 76,383,305 (GRCm39)	T535I	probably damaging	Het
Mcts2	T	C	2: 152,529,297 (GRCm39)	I36T	probably benign	Het
Meikin	T	A	11: 54,302,738 (GRCm39)	N383K	probably benign	Het
Myo1g	T	C	11: 6,461,055 (GRCm39)	Y663C	probably damaging	Het
Nadk2	T	A	15: 9,108,342 (GRCm39)	M419K	probably damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nfat5	T	C	8: 108,020,515 (GRCm39)	S20P	probably damaging	Het
Nlrp1a	C	T	11: 71,014,119 (GRCm39)	C377Y	probably damaging	Het
Nlrp9a	T	C	7: 26,250,463 (GRCm39)	V76A	probably damaging	Het
Nrap	C	A	19: 56,366,567 (GRCm39)	A341S	probably benign	Het
Ntng2	T	C	2: 29,117,732 (GRCm39)	S239G	probably damaging	Het
Nup188	T	A	2: 30,197,566 (GRCm39)	C207S	possibly damaging	Het
Or10a4	T	C	7: 106,697,619 (GRCm39)	*316R	probably null	Het
Or10ak7	T	A	4: 118,791,146 (GRCm39)	I300F	possibly damaging	Het
Or1j17	T	C	2: 36,578,107 (GRCm39)	I31T	probably benign	Het
Or2ag1	T	C	7: 106,473,474 (GRCm39)		probably benign	Het
Or5b118	T	A	19: 13,448,337 (GRCm39)	M1K	probably null	Het
Or8c13	A	C	9: 38,091,318 (GRCm39)	V267G	probably damaging	Het
Or8k31-ps1	C	T	2: 86,356,150 (GRCm39)	V124I	probably damaging	Het
Pcdhgb2	C	A	18: 37,823,159 (GRCm39)	A50E	probably damaging	Het
Pgap1	A	T	1: 54,582,220 (GRCm39)	M209K	possibly damaging	Het
Plbd1	T	A	6: 136,589,829 (GRCm39)	D463V	probably damaging	Het
Plcg2	T	A	8: 118,310,288 (GRCm39)	I380N	probably damaging	Het
Pnpt1	T	C	11: 29,087,285 (GRCm39)	W184R	probably damaging	Het
Pptc7	G	A	5: 122,451,840 (GRCm39)	V202I	probably benign	Het
Prpf6	C	T	2: 181,282,389 (GRCm39)	A510V	probably damaging	Het
Prr5l	T	C	2: 101,559,777 (GRCm39)	Y235C	probably benign	Het
Ptprk	T	C	10: 28,450,905 (GRCm39)	V1022A	probably benign	Het
Rbl2	T	C	8: 91,810,057 (GRCm39)		probably null	Het
Rmnd1	T	C	10: 4,360,753 (GRCm39)	K348E	probably benign	Het
Rsf1	CGGCGGC	CGGCGGCGGGGGCGGC	7: 97,229,136 (GRCm39)		probably benign	Het
Sacs	T	A	14: 61,429,241 (GRCm39)	N433K	probably benign	Het
Scyl1	T	C	19: 5,810,057 (GRCm39)	T590A	probably benign	Het
Sdhd	A	G	9: 50,508,533 (GRCm39)	V111A	possibly damaging	Het
Sec24b	G	T	3: 129,827,509 (GRCm39)	P330Q	probably benign	Het
Serpinb6d	C	T	13: 33,848,128 (GRCm39)	P31S	probably damaging	Het
Slc26a9	A	T	1: 131,687,211 (GRCm39)	R457W	probably damaging	Het
Slc5a8	G	A	10: 88,755,364 (GRCm39)	M490I	probably benign	Het
Slx4	A	G	16: 3,806,844 (GRCm39)	I533T	probably benign	Het
Slx4ip	T	A	2: 136,888,650 (GRCm39)	F110L	probably benign	Het
Smchd1	T	C	17: 71,652,359 (GRCm39)	R2000G	probably benign	Het
Snx8	T	C	5: 140,346,008 (GRCm39)	E75G	possibly damaging	Het
Stab2	C	A	10: 86,735,705 (GRCm39)	C1292F	probably damaging	Het
Swt1	A	T	1: 151,270,364 (GRCm39)	M617K	possibly damaging	Het
Thoc2l	A	G	5: 104,670,229 (GRCm39)	T1584A	probably benign	Het
Tiam2	T	A	17: 3,568,687 (GRCm39)	I1611N	possibly damaging	Het
Tmem63b	T	G	17: 45,972,748 (GRCm39)	N682T	probably benign	Het
Trio	C	T	15: 27,871,273 (GRCm39)	V674M	probably damaging	Het
Trpc3	G	A	3: 36,704,286 (GRCm39)	T557M	possibly damaging	Het
Vmn2r43	C	T	7: 8,256,379 (GRCm39)		probably null	Het
Wdr49	A	T	3: 75,265,751 (GRCm39)	Y232N	possibly damaging	Het
Wdr90	T	C	17: 26,064,367 (GRCm39)	M1835V	probably benign	Het
Xpc	T	C	6: 91,469,320 (GRCm39)	E809G	probably damaging	Het
Zfhx3	A	T	8: 109,675,493 (GRCm39)	Q2181L	probably damaging	Het
Zfp442	T	C	2: 150,251,201 (GRCm39)	T234A	probably benign	Het
Zfp764	A	T	7: 127,004,450 (GRCm39)	M227K	probably benign	Het
Zfp764l1	A	G	7: 126,990,695 (GRCm39)	S431P	probably benign	Het
Zfp957	A	G	14: 79,450,750 (GRCm39)	S350P	unknown	Het
Zscan29	T	A	2: 120,999,761 (GRCm39)	K147*	probably null	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
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'- TTCCCAAGCACTCTGACAGC -3'
(R):5'- ACATTTATAAGTGACTTCCTGGGC -3'

Sequencing Primer
(F):5'- CTGACAGCTACGATCTCTGTGG -3'
(R):5'- GACTTCCTGGGCTAGAATAAGACTC -3'

Posted On

2019-06-26