Incidental Mutation 'IGL02086:Vac14'
ID 285464
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vac14
Ensembl Gene ENSMUSG00000010936
Gene Name Vac14 homolog (S. cerevisiae)
Synonyms Tax1bp2, Trx, D8Wsu151e, ingls
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02086
Quality Score
Status
Chromosome 8
Chromosomal Location 111345217-111447030 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 111379950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 416 (M416K)
Ref Sequence ENSEMBL: ENSMUSP00000148548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034190] [ENSMUST00000212829] [ENSMUST00000213003]
AlphaFold Q80WQ2
Predicted Effect probably benign
Transcript: ENSMUST00000034190
AA Change: M416K

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000034190
Gene: ENSMUSG00000010936
AA Change: M416K

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 possibly damaging
Transcript: ENSMUST00000212829
AA Change: M416K

PolyPhen 2 Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000213003
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213015
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930426L09Rik T C 2: 19,003,623 (GRCm39) probably benign Het
Abi3bp A G 16: 56,462,930 (GRCm39) probably benign Het
Asb4 T C 6: 5,398,386 (GRCm39) I117T probably benign Het
Birc6 T G 17: 74,946,822 (GRCm39) L2847R probably damaging Het
C2cd2 A G 16: 97,691,208 (GRCm39) probably benign Het
Ccdc77 C A 6: 120,316,119 (GRCm39) C186F possibly damaging Het
Cd300ld2 T A 11: 114,903,384 (GRCm39) probably benign Het
Cd55b A T 1: 130,345,919 (GRCm39) D166E probably benign Het
Cfap100 A G 6: 90,390,954 (GRCm39) F8L probably damaging Het
Col2a1 C T 15: 97,884,618 (GRCm39) probably null Het
Dbf4 A G 5: 8,453,189 (GRCm39) I270T probably benign Het
Dkk3 T C 7: 111,748,236 (GRCm39) S123G probably benign Het
Ep400 A G 5: 110,824,809 (GRCm39) probably benign Het
Fam184a A G 10: 53,575,351 (GRCm39) I30T probably damaging Het
Fam20a T C 11: 109,564,239 (GRCm39) I505V probably benign Het
Fbh1 T C 2: 11,768,938 (GRCm39) D285G probably benign Het
Fcho1 T C 8: 72,169,444 (GRCm39) E154G probably damaging Het
Klhdc1 A G 12: 69,329,958 (GRCm39) I362M probably benign Het
Knl1 A T 2: 118,931,255 (GRCm39) E1990D probably benign Het
Lancl2 A G 6: 57,711,024 (GRCm39) Y394C probably damaging Het
Lgi2 G A 5: 52,723,299 (GRCm39) S50F probably damaging Het
Map2k7 A G 8: 4,288,950 (GRCm39) E14G probably damaging Het
Mga A G 2: 119,754,517 (GRCm39) I1009V probably damaging Het
Nat9 C A 11: 115,074,234 (GRCm39) probably null Het
Nek2 G A 1: 191,563,401 (GRCm39) A422T probably benign Het
Nfkbiz A T 16: 55,636,034 (GRCm39) L509Q probably damaging Het
Or56b2 A T 7: 104,337,634 (GRCm39) R137S probably benign Het
Pgap1 T A 1: 54,587,147 (GRCm39) Q143L probably damaging Het
Pkd1l3 C T 8: 110,392,217 (GRCm39) T1937I probably damaging Het
Pou1f1 A G 16: 65,326,784 (GRCm39) E128G probably damaging Het
Ppfia3 T C 7: 44,989,996 (GRCm39) probably benign Het
Prkd1 T C 12: 50,434,046 (GRCm39) I566V probably benign Het
Psd2 A G 18: 36,138,959 (GRCm39) R528G probably damaging Het
Ptprg G T 14: 12,110,080 (GRCm38) E263* probably null Het
Radil T C 5: 142,529,576 (GRCm39) D40G probably benign Het
Ryr2 T A 13: 11,750,442 (GRCm39) Y1943F probably damaging Het
Slc30a4 C T 2: 122,543,947 (GRCm39) probably benign Het
Slc31a1 A T 4: 62,306,241 (GRCm39) T120S possibly damaging Het
Snrpe A G 1: 133,537,487 (GRCm39) probably benign Het
Stx3 G T 19: 11,796,046 (GRCm39) probably benign Het
Thoc2l A G 5: 104,666,867 (GRCm39) E463G possibly damaging Het
Ufsp1 T A 5: 137,293,178 (GRCm39) C43S probably damaging Het
Vmn1r81 A C 7: 11,993,792 (GRCm39) V272G possibly damaging Het
Vmn2r107 T A 17: 20,578,062 (GRCm39) I457K probably benign Het
Vmn2r72 A T 7: 85,387,374 (GRCm39) V730E probably benign Het
Vmn2r9 T C 5: 108,995,433 (GRCm39) Y405C probably damaging Het
Zcchc17 T C 4: 130,210,440 (GRCm39) *242W probably null Het
Zfp503 T C 14: 22,037,354 (GRCm39) K83R possibly damaging Het
Other mutations in Vac14
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2015-04-16