Incidental Mutation 'R1883:Vac14'
ID209274
Institutional Source Beutler Lab
Gene Symbol Vac14
Ensembl Gene ENSMUSG00000010936
Gene NameVac14 homolog (S. cerevisiae)
SynonymsTax1bp2, ingls, D8Wsu151e, Trx
MMRRC Submission 039904-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1883 (G1)
Quality Score225
Status Not validated
Chromosome8
Chromosomal Location110618585-110720398 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 110711687 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921507P07Rik T C 6: 50,574,453 T339A probably benign Het
Ano9 T C 7: 141,102,331 E677G probably benign Het
Auh G A 13: 52,835,496 P308L probably benign Het
Brs3 T C X: 57,047,089 I311T probably benign Het
Capn9 A G 8: 124,611,558 K552R probably benign Het
Catsperg1 C T 7: 29,182,236 probably null Het
Cdc16 A G 8: 13,775,738 N449D probably damaging Het
Cdyl2 A T 8: 116,595,163 N208K probably damaging Het
Cnot4 C T 6: 35,078,157 V66I probably damaging Het
Cntn4 A G 6: 106,679,392 T885A probably benign Het
Col20a1 C T 2: 180,992,910 T131I possibly damaging Het
Crybg2 C A 4: 134,074,283 S918* probably null Het
Dact2 A T 17: 14,197,823 S207T possibly damaging Het
Dbnl G A 11: 5,799,247 G356E probably benign Het
Ddx18 C A 1: 121,567,916 probably benign Het
Dis3 A T 14: 99,091,469 H282Q probably benign Het
Dnah3 T C 7: 120,077,919 D453G probably benign Het
Dst T C 1: 34,189,308 V1994A possibly damaging Het
Dusp8 C T 7: 142,084,348 probably null Het
Eipr1 A T 12: 28,766,851 H69L possibly damaging Het
Eml1 A G 12: 108,463,652 R65G probably damaging Het
Epha7 C T 4: 28,950,362 H722Y possibly damaging Het
Epyc A T 10: 97,675,833 K229N possibly damaging Het
Extl1 A G 4: 134,364,606 I312T probably benign Het
F13a1 G C 13: 36,989,007 A133G probably benign Het
Fam185a G T 5: 21,425,244 C26F possibly damaging Het
Fam186b T C 15: 99,278,798 N737S probably damaging Het
Fam78b A G 1: 167,001,602 I13V probably benign Het
Fat1 A T 8: 45,051,147 Q4559L probably benign Het
Fnip1 T C 11: 54,515,547 S1157P probably damaging Het
Foxj3 A C 4: 119,610,029 M190L probably benign Het
Gm5096 T C 18: 87,756,545 L64P probably damaging Het
Heatr3 T C 8: 88,144,593 Y192H possibly damaging Het
Hexdc T A 11: 121,207,698 S3T probably benign Het
Klf3 C T 5: 64,822,881 P5S probably damaging Het
Klf9 C T 19: 23,164,737 S187L probably damaging Het
Krt9 T C 11: 100,188,697 H623R unknown Het
Krtap2-4 G C 11: 99,614,679 probably benign Het
Lmtk3 T C 7: 45,786,849 Y84H probably damaging Het
Mroh3 G T 1: 136,206,993 A166D probably damaging Het
Musk C A 4: 58,373,189 P697T probably benign Het
Nek9 A G 12: 85,332,556 L192P probably damaging Het
Nipbl A C 15: 8,327,132 F1590C probably damaging Het
Nrk G T X: 139,007,173 V1455F probably damaging Het
Nsun3 T C 16: 62,735,293 D290G probably damaging Het
Obscn T C 11: 59,078,203 T222A probably damaging Het
Olfr446 T C 6: 42,927,830 S200P probably damaging Het
Olfr583 T C 7: 103,051,982 I228T probably benign Het
Olfr6 T C 7: 106,956,774 H54R probably benign Het
Osbpl11 T G 16: 33,214,353 H237Q probably benign Het
Pde10a A T 17: 8,978,944 T671S possibly damaging Het
Pkd2 A T 5: 104,483,228 N506I probably damaging Het
Ppp3cb A G 14: 20,523,845 V274A possibly damaging Het
Prex1 T C 2: 166,583,272 D938G probably benign Het
Ptch1 G A 13: 63,512,027 Q1134* probably null Het
Rasgrf2 A G 13: 91,969,030 V820A probably benign Het
Rimbp2 C T 5: 128,803,934 V137M possibly damaging Het
Rpa1 A G 11: 75,318,483 V137A probably benign Het
Rps6ka1 A C 4: 133,864,043 I299S probably damaging Het
Scn3b A C 9: 40,279,373 probably null Het
Sdha A T 13: 74,333,136 I317N probably damaging Het
Serpina1d T A 12: 103,765,778 D274V possibly damaging Het
Sik3 C G 9: 46,221,089 H1276Q probably benign Het
Snx14 T A 9: 88,402,261 E451D probably benign Het
Swt1 T A 1: 151,423,533 K8* probably null Het
Tas1r3 G T 4: 155,862,153 P332T probably damaging Het
Tas2r126 A T 6: 42,435,027 T165S probably benign Het
Tecpr1 A G 5: 144,206,529 V676A probably benign Het
Tg A G 15: 66,671,309 E24G probably damaging Het
Tlr7 C T X: 167,306,472 G673S probably benign Het
Tnxb T A 17: 34,689,565 D1520E probably benign Het
Trabd A G 15: 89,081,981 E47G probably damaging Het
Trim29 T A 9: 43,311,405 I177N probably damaging Het
Ubxn2a A T 12: 4,894,563 L53* probably null Het
Ulk2 A G 11: 61,830,612 L208P probably damaging Het
Unc80 G A 1: 66,525,770 C872Y possibly damaging Het
Vmn1r20 C A 6: 57,432,321 H211N probably benign Het
Vmn1r31 C T 6: 58,472,044 V279I probably damaging Het
Vmn2r18 G T 5: 151,575,725 Q425K probably benign Het
Vmn2r60 T C 7: 42,136,670 V299A probably damaging Het
Vps54 A T 11: 21,312,967 T685S possibly damaging Het
Vwa5b1 A G 4: 138,575,389 W932R probably damaging Het
Wdr53 A T 16: 32,256,498 I174F possibly damaging Het
Zfp157 A G 5: 138,444,840 D31G probably damaging Het
Zfp60 T C 7: 27,750,010 L701P probably benign Het
Zfp609 A T 9: 65,794,758 M204K probably benign Het
Zfp831 A G 2: 174,704,077 H1325R possibly damaging Het
Zfp995 A T 17: 21,880,641 I204N probably benign Het
Zp2 C T 7: 120,133,401 D641N probably benign Het
Other mutations in Vac14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01154:Vac14 APN 8 110653607 splice site probably benign
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
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
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
Predicted Primers PCR Primer
(F):5'- TTGTGACAGCTCGTTCCCAG -3'
(R):5'- GACAGCTCCTTCCTGAACAC -3'

Sequencing Primer
(F):5'- TGGGCTGCCAAACACAG -3'
(R):5'- TTCCTGAACACGCACCG -3'
Posted On2014-06-30