Incidental Mutation 'R9518:Vac14'
ID 718715
Institutional Source Beutler Lab
Gene Symbol Vac14
Ensembl Gene ENSMUSG00000010936
Gene Name Vac14 homolog (S. cerevisiae)
Synonyms Tax1bp2, Trx, D8Wsu151e, ingls
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9518 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 111345217-111447030 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 111442070 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 683 (Q683*)
Ref Sequence ENSEMBL: ENSMUSP00000034190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034190] [ENSMUST00000212829] [ENSMUST00000213003]
AlphaFold Q80WQ2
Predicted Effect probably null
Transcript: ENSMUST00000034190
AA Change: Q683*
SMART Domains Protein: ENSMUSP00000034190
Gene: ENSMUSG00000010936
AA Change: Q683*

DomainStartEndE-ValueType
Pfam:Vac14_Fab1_bd 67 163 5.3e-43 PFAM
Pfam:Vac14_Fig4_bd 542 720 6.6e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000212829
Predicted Effect probably benign
Transcript: ENSMUST00000213003
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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
Abcf2 T C 5: 24,771,560 (GRCm39) T556A possibly damaging Het
B230104I21Rik G T 4: 154,434,004 (GRCm39) E63* probably null Het
Brd10 A T 19: 29,731,541 (GRCm39) H490Q possibly damaging Het
Brpf1 A G 6: 113,286,795 (GRCm39) K8E possibly damaging Het
Cacna1i G A 15: 80,271,978 (GRCm39) G1582D probably damaging Het
Ccdc162 T A 10: 41,465,572 (GRCm39) D1428V probably damaging Het
Ccdc178 G A 18: 22,278,516 (GRCm39) T69I possibly damaging Het
Ccdc62 T A 5: 124,089,288 (GRCm39) L309I possibly damaging Het
Ces5a T C 8: 94,257,430 (GRCm39) N125S probably damaging Het
Cps1 G T 1: 67,259,662 (GRCm39) V1335L probably damaging Het
Desi2 A G 1: 178,015,492 (GRCm39) N4S probably benign Het
Dlx6 C A 6: 6,863,406 (GRCm39) D9E probably damaging Het
Dnah12 A C 14: 26,495,713 (GRCm39) D198A probably damaging Het
Dnah8 CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT 17: 30,979,841 (GRCm39) probably null Het
Dpp8 T C 9: 64,981,866 (GRCm39) M716T possibly damaging Het
Dvl3 T A 16: 20,335,961 (GRCm39) I6N possibly damaging Het
Egflam A G 15: 7,319,263 (GRCm39) probably null Het
Eprs1 A T 1: 185,111,763 (GRCm39) M258L probably benign Het
Etnk1 A T 6: 143,149,144 (GRCm39) M352L probably benign Het
Fam124a A C 14: 62,824,947 (GRCm39) D147A probably damaging Het
Fstl4 A G 11: 53,056,647 (GRCm39) D468G possibly damaging Het
Grm8 T A 6: 27,429,469 (GRCm39) Q475L probably benign Het
Kel T C 6: 41,679,334 (GRCm39) E143G probably damaging Het
Kif21a A G 15: 90,840,676 (GRCm39) Y1147H probably damaging Het
Kndc1 A G 7: 139,519,827 (GRCm39) K1729E probably damaging Het
Map4k1 G A 7: 28,693,496 (GRCm39) R433H probably benign Het
Mettl14 T C 3: 123,167,687 (GRCm39) I224V probably benign Het
Mgat5b A G 11: 116,869,299 (GRCm39) N614S probably benign Het
Mlh3 C T 12: 85,313,004 (GRCm39) V1061I probably benign Het
Mtcl3 T A 10: 29,022,748 (GRCm39) C32S probably benign Het
Myo1h T C 5: 114,497,588 (GRCm39) V27A probably damaging Het
Naip5 A T 13: 100,358,367 (GRCm39) H956Q probably benign Het
Or11h7 A T 14: 50,891,101 (GRCm39) M136L probably damaging Het
Or13p3 A G 4: 118,567,120 (GRCm39) N172S probably damaging Het
Pcdh7 A T 5: 58,070,513 (GRCm39) T1064S possibly damaging Het
Peg3 T C 7: 6,714,280 (GRCm39) E314G probably benign Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Pgr A T 9: 8,922,645 (GRCm39) D605V probably damaging Het
Prdm2 T C 4: 142,860,579 (GRCm39) S904G possibly damaging Het
Prpf8 T C 11: 75,394,486 (GRCm39) I1807T possibly damaging Het
Serpinb3c T A 1: 107,200,468 (GRCm39) Q225L probably damaging Het
Strn3 A C 12: 51,696,956 (GRCm39) D258E probably damaging Het
Tent2 A G 13: 93,320,612 (GRCm39) I147T probably benign Het
Tgm2 C T 2: 157,985,049 (GRCm39) R19H probably benign Het
Themis T A 10: 28,544,748 (GRCm39) probably null Het
Trim28 C T 7: 12,764,445 (GRCm39) P753S probably damaging Het
Vwa1 G A 4: 155,857,336 (GRCm39) P154L probably damaging Het
Zfp541 T C 7: 15,813,036 (GRCm39) I563T 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
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
Predicted Primers PCR Primer
(F):5'- AACTGCTTAGCTCGTAGGC -3'
(R):5'- ACCTCCATTTTGGGATCTGC -3'

Sequencing Primer
(F):5'- CTTAGCTCGTAGGCAGCTG -3'
(R):5'- TAAAGTAGGGCCCTGGATCTC -3'
Posted On 2022-07-18