Mutagenetix > Incidental Mutation

Incidental Mutation 'R5030:Vac14'

391630

Institutional Source

Beutler Lab

Gene Symbol

Vac14

Ensembl Gene

ENSMUSG00000010936

Gene Name

Vac14 homolog (S. cerevisiae)

Synonyms

Tax1bp2, Trx, D8Wsu151e, ingls

MMRRC Submission

042621-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5030 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111345217-111447030 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111437018 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 577 (E577G)

Ref Sequence

ENSEMBL: ENSMUSP00000034190 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034190] [ENSMUST00000212829] [ENSMUST00000213003]

AlphaFold

Q80WQ2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034190
AA Change: E577G

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000034190
Gene: ENSMUSG00000010936
AA Change: E577G

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

0.1006

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

98% (87/89)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930584F24Rik	A	C	5: 26,684,783 (GRCm39)		noncoding transcript	Het
Abca15	A	T	7: 119,939,224 (GRCm39)	E206V	probably damaging	Het
Acy1	A	G	9: 106,310,596 (GRCm39)	F343L	probably benign	Het
Adam22	T	C	5: 8,229,645 (GRCm39)		probably benign	Het
Adgrv1	A	T	13: 81,607,948 (GRCm39)	D4041E	probably benign	Het
Akr1c14	T	C	13: 4,129,102 (GRCm39)	S166P	probably damaging	Het
Alms1	T	A	6: 85,604,946 (GRCm39)	C2199S	probably damaging	Het
Atm	A	T	9: 53,431,409 (GRCm39)	Y316*	probably null	Het
Atp1a1	T	C	3: 101,487,133 (GRCm39)	D892G	probably benign	Het
Auts2	A	G	5: 131,472,336 (GRCm39)	V581A	probably benign	Het
Bltp1	A	G	3: 36,997,548 (GRCm39)		probably benign	Het
Boll	T	A	1: 55,394,894 (GRCm39)	N57I	probably damaging	Het
C1s2	A	C	6: 124,612,547 (GRCm39)	V36G	possibly damaging	Het
Capza1	T	C	3: 104,748,154 (GRCm39)	Y70C	probably damaging	Het
Carnmt1	T	C	19: 18,668,950 (GRCm39)	S292P	possibly damaging	Het
Cemip2	T	G	19: 21,819,469 (GRCm39)	F1087V	probably benign	Het
Cyp2g1	T	G	7: 26,520,226 (GRCm39)	V486G	probably benign	Het
Dennd6b	T	A	15: 89,080,454 (GRCm39)	T49S	possibly damaging	Het
Dhx58	A	T	11: 100,586,963 (GRCm39)	I610N	probably damaging	Het
Elapor2	T	A	5: 9,478,502 (GRCm39)	N455K	probably damaging	Het
Fam170a	T	A	18: 50,415,021 (GRCm39)	N222K	probably benign	Het
Fbn1	A	G	2: 125,254,624 (GRCm39)	V213A	possibly damaging	Het
Frem3	A	C	8: 81,339,876 (GRCm39)	D723A	possibly damaging	Het
Fsip2	A	T	2: 82,818,836 (GRCm39)	K4856N	possibly damaging	Het
Galnt17	A	G	5: 130,905,351 (GRCm39)	V571A	probably damaging	Het
Gm6124	A	G	7: 38,872,454 (GRCm39)		noncoding transcript	Het
Gm8973	A	G	15: 98,904,136 (GRCm39)		noncoding transcript	Het
Gpd2	A	G	2: 57,194,417 (GRCm39)	T107A	probably damaging	Het
Hsd17b11	G	A	5: 104,151,158 (GRCm39)	A192V	probably damaging	Het
Igkv6-25	C	T	6: 70,192,426 (GRCm39)	Q4*	probably null	Het
Kalrn	A	G	16: 33,796,112 (GRCm39)	I1221T	probably benign	Het
Klhl9	G	T	4: 88,638,771 (GRCm39)	T490K	possibly damaging	Het
Lnpep	A	G	17: 17,799,571 (GRCm39)	V28A	probably damaging	Het
Lrrc37	G	A	11: 103,425,675 (GRCm39)	P1419S	unknown	Het
Man2c1	A	G	9: 57,047,923 (GRCm39)	H843R	probably benign	Het
Map1b	T	C	13: 99,570,682 (GRCm39)	K680E	unknown	Het
Metap2	A	T	10: 93,715,539 (GRCm39)		probably null	Het
Mfsd2a	A	T	4: 122,843,949 (GRCm39)	I340N	possibly damaging	Het
Mgll	T	C	6: 88,795,647 (GRCm39)		probably null	Het
Myh9	A	G	15: 77,691,998 (GRCm39)		probably benign	Het
Ncapd3	A	T	9: 26,983,062 (GRCm39)	I937F	probably damaging	Het
Neb	T	C	2: 52,224,504 (GRCm39)		probably benign	Het
Nova1	A	G	12: 46,747,030 (GRCm39)	S416P	probably damaging	Het
Oosp3	T	C	19: 11,678,308 (GRCm39)	W95R	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or2t26	A	T	11: 49,039,188 (GRCm39)	M35L	probably benign	Het
Or5p76	T	A	7: 108,122,384 (GRCm39)	I258F	possibly damaging	Het
Or7e175	A	T	9: 20,049,363 (GRCm39)	K317M	probably benign	Het
Pcdha7	T	A	18: 37,108,501 (GRCm39)	S509T	probably damaging	Het
Pdgfrb	T	C	18: 61,198,207 (GRCm39)	V296A	probably benign	Het
Pdzd2	A	T	15: 12,592,494 (GRCm39)	L50*	probably null	Het
Plcl2	G	T	17: 50,914,347 (GRCm39)	R452L	possibly damaging	Het
Poldip3	A	T	15: 83,022,392 (GRCm39)	F131I	possibly damaging	Het
Pwwp3a	T	C	10: 80,076,209 (GRCm39)		probably benign	Het
Rffl	G	A	11: 82,703,543 (GRCm39)	R127*	probably null	Het
Sec24d	T	A	3: 123,152,550 (GRCm39)	V854E	probably damaging	Het
Sgo2a	T	A	1: 58,056,918 (GRCm39)	L1034*	probably null	Het
Slc39a4	C	T	15: 76,498,283 (GRCm39)	D385N	probably damaging	Het
Spaca1	A	T	4: 34,039,247 (GRCm39)	N95K	possibly damaging	Het
Spag17	C	T	3: 99,992,657 (GRCm39)	Q1718*	probably null	Het
Spdl1	C	T	11: 34,714,267 (GRCm39)	A141T	probably benign	Het
Stxbp3-ps	A	T	19: 9,535,714 (GRCm39)		noncoding transcript	Het
Supv3l1	G	T	10: 62,266,394 (GRCm39)	A594D	probably damaging	Het
Tcaf3	A	G	6: 42,573,867 (GRCm39)	V115A	probably benign	Het
Tmem131	T	C	1: 36,866,255 (GRCm39)	N483S	possibly damaging	Het
Tonsl	A	T	15: 76,522,301 (GRCm39)	C231S	probably damaging	Het
Trav9n-4	T	C	14: 53,532,305 (GRCm39)	F53S	possibly damaging	Het
Trgv7	G	T	13: 19,362,558 (GRCm39)	L82F	probably damaging	Het
Trim45	T	G	3: 100,835,388 (GRCm39)	V457G	probably damaging	Het
Trpm1	T	A	7: 63,885,579 (GRCm39)	I865N	probably damaging	Het
Trpm3	C	A	19: 22,676,130 (GRCm39)	L99I	probably benign	Het
Twist1	T	A	12: 34,008,440 (GRCm39)	L155Q	probably damaging	Het
Vmn1r184	T	C	7: 25,966,881 (GRCm39)	V209A	probably benign	Het
Xdh	C	T	17: 74,198,288 (GRCm39)	G1200R	probably damaging	Het
Zbbx	C	T	3: 74,990,990 (GRCm39)	D290N	possibly damaging	Het
Zbtb40	T	C	4: 136,725,263 (GRCm39)	T585A	probably benign	Het
Zc3h4	T	A	7: 16,156,155 (GRCm39)	D262E	unknown	Het
Zfp777	G	T	6: 48,014,601 (GRCm39)	D368E	probably 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
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
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'- AAAGGGGTCTTCAGTGTGCC -3'
(R):5'- CTGTGAAGATTCCCTGTTTACCCG -3'

Sequencing Primer
(F):5'- GGGGGTCCTTTTCCCATGC -3'
(R):5'- GAAGATTCCCTGTTTACCCGTCTCC -3'

Posted On

2016-06-06