Incidental Mutation 'IGL01724:Vac14'
ID105219
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vac14
Ensembl Gene ENSMUSG00000010936
Gene NameVac14 homolog (S. cerevisiae)
SynonymsTax1bp2, ingls, D8Wsu151e, Trx
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01724
Quality Score
Status
Chromosome8
Chromosomal Location110618585-110720398 bp(+) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) T to A at 110618891 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000034190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034190] [ENSMUST00000212829] [ENSMUST00000213003]
Predicted Effect probably null
Transcript: ENSMUST00000034190
AA Change: M1K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034190
Gene: ENSMUSG00000010936
AA Change: M1K

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 null
Transcript: ENSMUST00000212829
AA Change: M1K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably null
Transcript: ENSMUST00000213003
AA Change: M1K

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik C T 7: 29,247,896 probably null Het
Abcc9 A G 6: 142,664,533 V635A probably benign Het
Adgre1 T A 17: 57,444,064 Y579* probably null Het
Adgrg3 T C 8: 95,039,425 F295L probably benign Het
Arhgap42 A T 9: 8,998,253 probably benign Het
Brd2 T A 17: 34,117,002 Q79L probably damaging Het
Brd2 C A 17: 34,117,001 Q79H probably damaging Het
Capn15 A G 17: 25,962,063 S705P probably damaging Het
Cebpz T A 17: 78,935,913 D104V probably benign Het
Chl1 T C 6: 103,649,573 I94T probably damaging Het
Csf2rb C T 15: 78,336,414 A52V probably damaging Het
Ddx27 T C 2: 167,028,389 L459P probably damaging Het
Dhtkd1 T C 2: 5,914,840 T577A probably benign Het
Dync2h1 G A 9: 7,081,077 T2873I probably benign Het
Emg1 A G 6: 124,712,021 F8S possibly damaging Het
Fam46a A G 9: 85,325,050 C232R probably damaging Het
Fermt3 A G 19: 7,001,775 I553T probably damaging Het
Gaa A G 11: 119,275,121 D419G possibly damaging Het
Hdac10 T C 15: 89,124,709 probably benign Het
Hsf1 T A 15: 76,496,837 V122E possibly damaging Het
Lig3 C A 11: 82,790,622 T480K possibly damaging Het
Magi1 T C 6: 93,792,400 probably null Het
Mcm2 G T 6: 88,886,062 H683N probably damaging Het
Ncapg2 G T 12: 116,426,711 A427S probably damaging Het
Nkd1 T C 8: 88,522,295 F23L probably damaging Het
Olfr1501 G A 19: 13,838,861 T104M probably damaging Het
Pcdhb5 T G 18: 37,321,022 S152A probably benign Het
Pdx1 A T 5: 147,274,407 E146V probably damaging Het
Qrsl1 T C 10: 43,874,608 T485A probably benign Het
Slc17a4 A G 13: 23,905,533 Y134H probably benign Het
Slc24a4 A T 12: 102,218,960 M110L possibly damaging Het
Tnni3k T A 3: 154,939,626 I541F possibly damaging Het
Uhrf2 T C 19: 30,075,252 V382A probably benign Het
Virma A G 4: 11,528,672 E1303G probably damaging Het
Xirp2 T C 2: 67,526,067 V3724A 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
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
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
R1883:Vac14 UTSW 8 110711687 missense probably damaging 1.00
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
Posted On2014-01-21