Mutagenetix > Incidental Mutation

Incidental Mutation 'R1883:Vac14'

209274

Institutional Source

Beutler Lab

Gene Symbol

Vac14

Ensembl Gene

ENSMUSG00000010936

Gene Name

Vac14 homolog (S. cerevisiae)

Synonyms

Tax1bp2, Trx, D8Wsu151e, ingls

MMRRC Submission

039904-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1883 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111345217-111447030 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111438319 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 644 (H644R)

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: H644R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034190
Gene: ENSMUSG00000010936
AA Change: H644R

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

Meta Mutation Damage Score

0.2157

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano9	T	C	7: 140,682,244 (GRCm39)	E677G	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Bhmt1b	T	C	18: 87,774,669 (GRCm39)	L64P	probably damaging	Het
Brs3	T	C	X: 56,092,449 (GRCm39)	I311T	probably benign	Het
Capn9	A	G	8: 125,338,297 (GRCm39)	K552R	probably benign	Het
Catsperg1	C	T	7: 28,881,661 (GRCm39)		probably null	Het
Cdc16	A	G	8: 13,825,738 (GRCm39)	N449D	probably damaging	Het
Cdyl2	A	T	8: 117,321,902 (GRCm39)	N208K	probably damaging	Het
Cnot4	C	T	6: 35,055,092 (GRCm39)	V66I	probably damaging	Het
Cntn4	A	G	6: 106,656,353 (GRCm39)	T885A	probably benign	Het
Col20a1	C	T	2: 180,634,703 (GRCm39)	T131I	possibly damaging	Het
Crybg2	C	A	4: 133,801,594 (GRCm39)	S918*	probably null	Het
Dact2	A	T	17: 14,418,085 (GRCm39)	S207T	possibly damaging	Het
Dbnl	G	A	11: 5,749,247 (GRCm39)	G356E	probably benign	Het
Ddx18	C	A	1: 121,495,645 (GRCm39)		probably benign	Het
Dis3	A	T	14: 99,328,905 (GRCm39)	H282Q	probably benign	Het
Dnah3	T	C	7: 119,677,142 (GRCm39)	D453G	probably benign	Het
Dst	T	C	1: 34,228,389 (GRCm39)	V1994A	possibly damaging	Het
Dusp8	C	T	7: 141,638,085 (GRCm39)		probably null	Het
Eipr1	A	T	12: 28,816,850 (GRCm39)	H69L	possibly damaging	Het
Eml1	A	G	12: 108,429,911 (GRCm39)	R65G	probably damaging	Het
Epha7	C	T	4: 28,950,362 (GRCm39)	H722Y	possibly damaging	Het
Epyc	A	T	10: 97,511,695 (GRCm39)	K229N	possibly damaging	Het
Extl1	A	G	4: 134,091,917 (GRCm39)	I312T	probably benign	Het
F13a1	G	C	13: 37,172,981 (GRCm39)	A133G	probably benign	Het
Fam185a	G	T	5: 21,630,242 (GRCm39)	C26F	possibly damaging	Het
Fam186b	T	C	15: 99,176,679 (GRCm39)	N737S	probably damaging	Het
Fam78b	A	G	1: 166,829,171 (GRCm39)	I13V	probably benign	Het
Fat1	A	T	8: 45,504,184 (GRCm39)	Q4559L	probably benign	Het
Fnip1	T	C	11: 54,406,373 (GRCm39)	S1157P	probably damaging	Het
Foxj3	A	C	4: 119,467,226 (GRCm39)	M190L	probably benign	Het
Heatr3	T	C	8: 88,871,221 (GRCm39)	Y192H	possibly damaging	Het
Hexd	T	A	11: 121,098,524 (GRCm39)	S3T	probably benign	Het
Klf3	C	T	5: 64,980,224 (GRCm39)	P5S	probably damaging	Het
Klf9	C	T	19: 23,142,101 (GRCm39)	S187L	probably damaging	Het
Krt9	T	C	11: 100,079,523 (GRCm39)	H623R	unknown	Het
Krtap2-4	G	C	11: 99,505,505 (GRCm39)		probably benign	Het
Lmtk3	T	C	7: 45,436,273 (GRCm39)	Y84H	probably damaging	Het
Mroh3	G	T	1: 136,134,731 (GRCm39)	A166D	probably damaging	Het
Musk	C	A	4: 58,373,189 (GRCm39)	P697T	probably benign	Het
Nek9	A	G	12: 85,379,330 (GRCm39)	L192P	probably damaging	Het
Nipbl	A	C	15: 8,356,616 (GRCm39)	F1590C	probably damaging	Het
Nrk	G	T	X: 137,907,922 (GRCm39)	V1455F	probably damaging	Het
Nsun3	T	C	16: 62,555,656 (GRCm39)	D290G	probably damaging	Het
Obscn	T	C	11: 58,969,029 (GRCm39)	T222A	probably damaging	Het
Or2a12	T	C	6: 42,904,764 (GRCm39)	S200P	probably damaging	Het
Or51f1d	T	C	7: 102,701,189 (GRCm39)	I228T	probably benign	Het
Or6b9	T	C	7: 106,555,981 (GRCm39)	H54R	probably benign	Het
Osbpl11	T	G	16: 33,034,723 (GRCm39)	H237Q	probably benign	Het
Pde10a	A	T	17: 9,197,776 (GRCm39)	T671S	possibly damaging	Het
Pkd2	A	T	5: 104,631,094 (GRCm39)	N506I	probably damaging	Het
Ppp3cb	A	G	14: 20,573,913 (GRCm39)	V274A	possibly damaging	Het
Prex1	T	C	2: 166,425,192 (GRCm39)	D938G	probably benign	Het
Ptch1	G	A	13: 63,659,841 (GRCm39)	Q1134*	probably null	Het
Rasgrf2	A	G	13: 92,117,149 (GRCm39)	V820A	probably benign	Het
Rimbp2	C	T	5: 128,880,998 (GRCm39)	V137M	possibly damaging	Het
Rpa1	A	G	11: 75,209,309 (GRCm39)	V137A	probably benign	Het
Rps6ka1	A	C	4: 133,591,354 (GRCm39)	I299S	probably damaging	Het
Scn3b	A	C	9: 40,190,669 (GRCm39)		probably null	Het
Sdha	A	T	13: 74,481,255 (GRCm39)	I317N	probably damaging	Het
Serpina1d	T	A	12: 103,732,037 (GRCm39)	D274V	possibly damaging	Het
Sik3	C	G	9: 46,132,387 (GRCm39)	H1276Q	probably benign	Het
Snx14	T	A	9: 88,284,314 (GRCm39)	E451D	probably benign	Het
Spmip4	T	C	6: 50,551,433 (GRCm39)	T339A	probably benign	Het
Swt1	T	A	1: 151,299,284 (GRCm39)	K8*	probably null	Het
Tas1r3	G	T	4: 155,946,610 (GRCm39)	P332T	probably damaging	Het
Tas2r126	A	T	6: 42,411,961 (GRCm39)	T165S	probably benign	Het
Tecpr1	A	G	5: 144,143,347 (GRCm39)	V676A	probably benign	Het
Tg	A	G	15: 66,543,158 (GRCm39)	E24G	probably damaging	Het
Tlr7	C	T	X: 166,089,468 (GRCm39)	G673S	probably benign	Het
Tnxb	T	A	17: 34,908,539 (GRCm39)	D1520E	probably benign	Het
Trabd	A	G	15: 88,966,184 (GRCm39)	E47G	probably damaging	Het
Trim29	T	A	9: 43,222,702 (GRCm39)	I177N	probably damaging	Het
Ubxn2a	A	T	12: 4,944,563 (GRCm39)	L53*	probably null	Het
Ulk2	A	G	11: 61,721,438 (GRCm39)	L208P	probably damaging	Het
Unc80	G	A	1: 66,564,929 (GRCm39)	C872Y	possibly damaging	Het
Vmn1r20	C	A	6: 57,409,306 (GRCm39)	H211N	probably benign	Het
Vmn1r31	C	T	6: 58,449,029 (GRCm39)	V279I	probably damaging	Het
Vmn2r18	G	T	5: 151,499,190 (GRCm39)	Q425K	probably benign	Het
Vmn2r60	T	C	7: 41,786,094 (GRCm39)	V299A	probably damaging	Het
Vps54	A	T	11: 21,262,967 (GRCm39)	T685S	possibly damaging	Het
Vwa5b1	A	G	4: 138,302,700 (GRCm39)	W932R	probably damaging	Het
Wdr53	A	T	16: 32,075,316 (GRCm39)	I174F	possibly damaging	Het
Zfp157	A	G	5: 138,443,102 (GRCm39)	D31G	probably damaging	Het
Zfp60	T	C	7: 27,449,435 (GRCm39)	L701P	probably benign	Het
Zfp609	A	T	9: 65,702,040 (GRCm39)	M204K	probably benign	Het
Zfp831	A	G	2: 174,545,870 (GRCm39)	H1325R	possibly damaging	Het
Zfp995	A	T	17: 22,099,622 (GRCm39)	I204N	probably benign	Het
Zp2	C	T	7: 119,732,624 (GRCm39)	D641N	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
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'- TTGTGACAGCTCGTTCCCAG -3'
(R):5'- GACAGCTCCTTCCTGAACAC -3'

Sequencing Primer
(F):5'- TGGGCTGCCAAACACAG -3'
(R):5'- TTCCTGAACACGCACCG -3'

Posted On

2014-06-30