Incidental Mutation 'IGL01154:Vac14'
ID 51847
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 # IGL01154
Quality Score
Chromosome 8
Chromosomal Location 111345217-111447030 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 111380239 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034190] [ENSMUST00000212829] [ENSMUST00000213003]
AlphaFold Q80WQ2
Predicted Effect probably benign
Transcript: ENSMUST00000034190
SMART Domains Protein: ENSMUSP00000034190
Gene: ENSMUSG00000010936

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
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
2210408I21Rik T G 13: 77,429,213 (GRCm39) F767V probably benign Het
A2m C A 6: 121,650,501 (GRCm39) S1203* probably null Het
Abcc3 T C 11: 94,250,058 (GRCm39) probably benign Het
Adamts13 T C 2: 26,896,206 (GRCm39) Y1200H probably benign Het
Aldh1l2 T C 10: 83,356,237 (GRCm39) D51G probably damaging Het
Apc2 A G 10: 80,148,903 (GRCm39) E1319G possibly damaging Het
Arap3 A T 18: 38,129,787 (GRCm39) S125T probably benign Het
Atp2b1 T A 10: 98,832,750 (GRCm39) V417E probably damaging Het
Bpifa1 T A 2: 153,985,920 (GRCm39) D78E probably benign Het
Catsperb C A 12: 101,591,940 (GRCm39) A1090E possibly damaging Het
Ceacam9 C A 7: 16,457,886 (GRCm39) T138K probably damaging Het
Cenpf T A 1: 189,412,530 (GRCm39) E244D probably benign Het
Cep135 A T 5: 76,754,643 (GRCm39) probably benign Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Col15a1 A C 4: 47,208,450 (GRCm39) T6P possibly damaging Het
Cyp11b1 T A 15: 74,710,383 (GRCm39) Q306L probably benign Het
Defa22 T A 8: 21,653,053 (GRCm39) probably null Het
Dnah5 A T 15: 28,458,802 (GRCm39) T4480S possibly damaging Het
Fastkd1 T C 2: 69,520,404 (GRCm39) probably null Het
Flt1 A G 5: 147,512,966 (GRCm39) Y1124H possibly damaging Het
Fsd1l A G 4: 53,701,074 (GRCm39) M469V probably benign Het
Fxr2 T C 11: 69,532,259 (GRCm39) probably benign Het
Gm10801 A T 2: 98,494,328 (GRCm39) Y135F probably benign Het
Grm4 A T 17: 27,653,711 (GRCm39) C699* probably null Het
Hcn4 A G 9: 58,766,362 (GRCm39) T677A unknown Het
Igkv9-123 G T 6: 67,931,518 (GRCm39) probably benign Het
Irf4 T A 13: 30,941,404 (GRCm39) H253Q possibly damaging Het
Jakmip2 T C 18: 43,723,744 (GRCm39) probably benign Het
Kmt2c A G 5: 25,489,397 (GRCm39) V1134A probably damaging Het
Limch1 G T 5: 66,903,301 (GRCm39) E17* probably null Het
Nap1l1 T A 10: 111,322,536 (GRCm39) N72K probably damaging Het
Or4x11 T C 2: 89,867,812 (GRCm39) L183P probably damaging Het
Or51t4 T C 7: 102,598,046 (GRCm39) S115P probably damaging Het
Otud6b A T 4: 14,811,732 (GRCm39) Y304N probably damaging Het
Pdcd10 A C 3: 75,448,540 (GRCm39) M8R probably damaging Het
Ppip5k1 T C 2: 121,173,660 (GRCm39) T404A probably damaging Het
Ppp2r2d C T 7: 138,483,940 (GRCm39) A197V probably benign Het
Psg25 C T 7: 18,258,624 (GRCm39) D351N probably benign Het
Sbno1 A T 5: 124,548,312 (GRCm39) I87N probably damaging Het
Stfa2l1 C T 16: 35,980,307 (GRCm39) probably benign Het
Sugp2 T A 8: 70,695,349 (GRCm39) D107E probably damaging Het
Syne1 G T 10: 5,310,848 (GRCm39) F576L probably damaging Het
Syne3 A G 12: 104,924,328 (GRCm39) F357S probably benign Het
Tenm2 A G 11: 35,932,371 (GRCm39) L1741P probably damaging Het
Tgs1 A T 4: 3,585,473 (GRCm39) K117* probably null Het
Tram1 C T 1: 13,649,673 (GRCm39) probably null Het
Trank1 T A 9: 111,215,468 (GRCm39) D1799E probably benign Het
Ttc14 A T 3: 33,857,248 (GRCm39) Y198F probably benign Het
Ube3b A G 5: 114,544,313 (GRCm39) N570S probably null Het
Ube4b A G 4: 149,449,927 (GRCm39) F412S probably benign Het
Vmn2r65 T C 7: 84,592,729 (GRCm39) T493A probably benign Het
Zfp408 T C 2: 91,478,351 (GRCm39) probably benign Het
Zfp580 C T 7: 5,056,267 (GRCm39) T209I possibly damaging Het
Other mutations in Vac14
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-06-21