Incidental Mutation 'IGL01400:Vps16'
ID79592
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vps16
Ensembl Gene ENSMUSG00000027411
Gene NameVSP16 CORVET/HOPS core subunit
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.967) question?
Stock #IGL01400
Quality Score
Status
Chromosome2
Chromosomal Location130424339-130444269 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 130438353 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 139 (E139G)
Ref Sequence ENSEMBL: ENSMUSP00000028900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028900] [ENSMUST00000128994]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028900
AA Change: E139G

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000028900
Gene: ENSMUSG00000027411
AA Change: E139G

DomainStartEndE-ValueType
Pfam:Vps16_N 4 420 1e-166 PFAM
low complexity region 452 462 N/A INTRINSIC
Pfam:Vps16_C 517 835 5.5e-150 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125098
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125973
Predicted Effect possibly damaging
Transcript: ENSMUST00000128994
AA Change: E139G

PolyPhen 2 Score 0.489 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000115899
Gene: ENSMUSG00000027411
AA Change: E139G

DomainStartEndE-ValueType
Pfam:Vps16_N 4 212 3.2e-74 PFAM
Pfam:Vps16_N 205 316 1e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130258
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131220
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132388
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134677
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137084
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps16 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]
PHENOTYPE: Mice with a homozygous point mutation in exon 3 display impaired motor function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A T 5: 99,243,101 I133N probably damaging Het
Abl2 T G 1: 156,635,184 C510G probably damaging Het
Ambp T C 4: 63,152,722 Y40C probably damaging Het
Apol11b G A 15: 77,638,019 T26M probably damaging Het
Arfgef3 G A 10: 18,652,706 A311V probably damaging Het
Cass4 A G 2: 172,427,300 D434G probably damaging Het
Cep250 A C 2: 155,998,291 T2390P possibly damaging Het
Cpm C A 10: 117,659,775 N56K probably benign Het
Cspp1 T C 1: 10,085,931 L455P probably damaging Het
Dcx T C X: 143,931,154 K51E possibly damaging Het
Ehd3 T C 17: 73,828,094 F322L probably benign Het
Ell A G 8: 70,578,913 D87G probably damaging Het
Epor C T 9: 21,959,439 probably null Het
Exosc10 T G 4: 148,565,271 M386R probably damaging Het
Gm1966 T A 7: 106,602,035 E667D probably benign Het
Gpr152 T C 19: 4,143,627 I389T probably benign Het
Kmo T A 1: 175,655,095 D328E possibly damaging Het
Llgl1 A G 11: 60,706,490 H255R probably damaging Het
Lrch3 T A 16: 32,979,541 H416Q probably damaging Het
Malrd1 G A 2: 16,101,957 probably null Het
Mdm1 T G 10: 118,157,251 H320Q probably damaging Het
Nol4 T A 18: 22,823,498 H209L probably damaging Het
Olfr482 A T 7: 108,094,839 C244S probably damaging Het
Pcdhac2 T C 18: 37,146,286 V773A possibly damaging Het
Pde3a A G 6: 141,459,228 N393S probably benign Het
Pik3r5 A G 11: 68,494,547 K700R probably benign Het
Prob1 G A 18: 35,653,333 R623C possibly damaging Het
Slc14a2 T C 18: 78,192,213 N112D probably damaging Het
Snapc3 C T 4: 83,450,177 P304S probably damaging Het
Spin2c T A X: 153,833,625 W145R probably damaging Het
Tmem131l T C 3: 83,922,122 E1075G probably damaging Het
Trip12 C T 1: 84,751,978 R995Q probably damaging Het
Trpm6 T A 19: 18,825,794 L867* probably null Het
Vmn1r87 T G 7: 13,132,303 H19P probably damaging Het
Other mutations in Vps16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01327:Vps16 APN 2 130437696 missense probably benign 0.19
IGL01542:Vps16 APN 2 130438394 missense probably damaging 0.97
IGL02011:Vps16 APN 2 130441479 missense probably benign 0.04
IGL02192:Vps16 APN 2 130440932 missense probably damaging 0.98
IGL02220:Vps16 APN 2 130441653 missense possibly damaging 0.85
IGL02587:Vps16 APN 2 130439716 critical splice donor site probably null
R0427:Vps16 UTSW 2 130438850 missense probably benign 0.00
R0507:Vps16 UTSW 2 130437712 critical splice donor site probably null
R1550:Vps16 UTSW 2 130440340 missense probably benign 0.09
R1789:Vps16 UTSW 2 130443600 missense probably benign 0.42
R3895:Vps16 UTSW 2 130438676 missense possibly damaging 0.96
R3981:Vps16 UTSW 2 130442594 missense possibly damaging 0.77
R4092:Vps16 UTSW 2 130439912 missense probably damaging 1.00
R4555:Vps16 UTSW 2 130443576 missense probably damaging 1.00
R4569:Vps16 UTSW 2 130442204 missense probably benign
R4803:Vps16 UTSW 2 130438110 missense probably benign 0.27
R4835:Vps16 UTSW 2 130438300 splice site probably benign
R5022:Vps16 UTSW 2 130439452 missense probably benign 0.07
R5023:Vps16 UTSW 2 130439452 missense probably benign 0.07
R5057:Vps16 UTSW 2 130439452 missense probably benign 0.07
R5158:Vps16 UTSW 2 130441279 missense probably damaging 1.00
R5177:Vps16 UTSW 2 130443368 nonsense probably null
R5540:Vps16 UTSW 2 130442385 missense probably benign 0.00
R5680:Vps16 UTSW 2 130440324 missense possibly damaging 0.64
R5689:Vps16 UTSW 2 130439091 nonsense probably null
R5690:Vps16 UTSW 2 130439091 nonsense probably null
R5926:Vps16 UTSW 2 130443556 missense probably damaging 0.97
R5992:Vps16 UTSW 2 130424449 critical splice donor site probably null
R6135:Vps16 UTSW 2 130438653 missense possibly damaging 0.57
R6370:Vps16 UTSW 2 130443384 missense probably damaging 1.00
R6898:Vps16 UTSW 2 130437681 missense possibly damaging 0.74
R7378:Vps16 UTSW 2 130438179 missense probably damaging 1.00
R7487:Vps16 UTSW 2 130439057 nonsense probably null
R7641:Vps16 UTSW 2 130440528 missense probably benign 0.28
R7720:Vps16 UTSW 2 130441703 nonsense probably null
R8246:Vps16 UTSW 2 130438873 missense probably damaging 1.00
R8363:Vps16 UTSW 2 130442241 missense probably benign 0.08
RF021:Vps16 UTSW 2 130438209 missense probably benign 0.09
Z1177:Vps16 UTSW 2 130441426 missense probably damaging 1.00
Posted On2013-11-05