Incidental Mutation 'R4664:Vps8'
ID 377796
Institutional Source Beutler Lab
Gene Symbol Vps8
Ensembl Gene ENSMUSG00000033653
Gene Name VPS8 CORVET complex subunit
Synonyms
MMRRC Submission 041922-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4664 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 21241868-21463430 bp(+) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) T to A at 21262938 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096191] [ENSMUST00000096192] [ENSMUST00000115397] [ENSMUST00000117598] [ENSMUST00000118923] [ENSMUST00000122235]
AlphaFold Q0P5W1
Predicted Effect probably null
Transcript: ENSMUST00000096191
SMART Domains Protein: ENSMUSP00000093905
Gene: ENSMUSG00000033653

DomainStartEndE-ValueType
low complexity region 96 112 N/A INTRINSIC
SCOP:d1g72a_ 158 296 1e-8 SMART
Blast:WD40 184 225 7e-22 BLAST
Blast:WD40 228 268 5e-20 BLAST
Pfam:Vps8 610 794 1.7e-61 PFAM
low complexity region 992 1007 N/A INTRINSIC
low complexity region 1085 1097 N/A INTRINSIC
low complexity region 1126 1137 N/A INTRINSIC
Blast:RING 1257 1277 1e-5 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000096192
SMART Domains Protein: ENSMUSP00000093906
Gene: ENSMUSG00000033653

DomainStartEndE-ValueType
low complexity region 96 112 N/A INTRINSIC
SCOP:d1g72a_ 158 298 1e-8 SMART
Blast:WD40 186 227 8e-22 BLAST
Blast:WD40 230 270 5e-20 BLAST
Pfam:Vps8 612 796 1.4e-61 PFAM
low complexity region 969 979 N/A INTRINSIC
low complexity region 1057 1069 N/A INTRINSIC
low complexity region 1098 1109 N/A INTRINSIC
RING 1229 1280 1.23e-4 SMART
Predicted Effect probably null
Transcript: ENSMUST00000115397
SMART Domains Protein: ENSMUSP00000111055
Gene: ENSMUSG00000033653

DomainStartEndE-ValueType
low complexity region 96 112 N/A INTRINSIC
SCOP:d1g72a_ 158 298 8e-9 SMART
Blast:WD40 186 227 8e-22 BLAST
Blast:WD40 230 270 5e-20 BLAST
Pfam:Vps8 613 796 1.3e-61 PFAM
low complexity region 994 1009 N/A INTRINSIC
low complexity region 1087 1099 N/A INTRINSIC
low complexity region 1128 1139 N/A INTRINSIC
RING 1259 1310 1.23e-4 SMART
Predicted Effect probably null
Transcript: ENSMUST00000117598
SMART Domains Protein: ENSMUSP00000112937
Gene: ENSMUSG00000033653

DomainStartEndE-ValueType
low complexity region 96 112 N/A INTRINSIC
SCOP:d1g72a_ 158 296 1e-8 SMART
Blast:WD40 184 225 8e-22 BLAST
Blast:WD40 228 268 5e-20 BLAST
Pfam:Vps8 610 794 1.9e-61 PFAM
low complexity region 992 1007 N/A INTRINSIC
low complexity region 1085 1097 N/A INTRINSIC
low complexity region 1126 1137 N/A INTRINSIC
RING 1257 1308 1.23e-4 SMART
Predicted Effect probably null
Transcript: ENSMUST00000118923
SMART Domains Protein: ENSMUSP00000112636
Gene: ENSMUSG00000033653

DomainStartEndE-ValueType
low complexity region 96 112 N/A INTRINSIC
SCOP:d1g72a_ 158 298 9e-9 SMART
Blast:WD40 186 227 8e-22 BLAST
Blast:WD40 230 270 5e-20 BLAST
Pfam:Vps8 612 796 1.9e-61 PFAM
low complexity region 969 979 N/A INTRINSIC
low complexity region 1057 1069 N/A INTRINSIC
low complexity region 1098 1109 N/A INTRINSIC
RING 1229 1280 1.23e-4 SMART
Predicted Effect probably null
Transcript: ENSMUST00000122235
SMART Domains Protein: ENSMUSP00000112622
Gene: ENSMUSG00000033653

DomainStartEndE-ValueType
low complexity region 96 112 N/A INTRINSIC
WD40 184 225 2.66e0 SMART
WD40 228 269 5.5e1 SMART
low complexity region 371 386 N/A INTRINSIC
low complexity region 480 491 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 96% (110/115)
Allele List at MGI
Other mutations in this stock
Total: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano2 A G 6: 125,840,501 (GRCm39) I391V probably benign Het
Apc T A 18: 34,431,647 (GRCm39) L349M probably damaging Het
Atmin A G 8: 117,684,698 (GRCm39) D786G probably damaging Het
Atp8a1 T A 5: 67,919,929 (GRCm39) D379V possibly damaging Het
Aurkb A G 11: 68,939,435 (GRCm39) K173E probably damaging Het
Bak1 T C 17: 27,241,510 (GRCm39) I83V possibly damaging Het
Btbd17 A C 11: 114,684,832 (GRCm39) V69G probably damaging Het
Cacna1a T A 8: 85,328,396 (GRCm39) Y1597* probably null Het
Camk2a C A 18: 61,088,696 (GRCm39) Q167K possibly damaging Het
Capn1 A T 19: 6,061,045 (GRCm39) N253K probably benign Het
Ccer2 A G 7: 28,455,928 (GRCm39) E40G probably benign Het
Cdc42bpa A G 1: 179,972,130 (GRCm39) T527A probably damaging Het
Cdkl2 T C 5: 92,185,124 (GRCm39) D89G probably damaging Het
Cep128 G T 12: 91,263,027 (GRCm39) R291S probably damaging Het
Cert1 T C 13: 96,735,965 (GRCm39) V175A probably benign Het
Chd4 A G 6: 125,078,465 (GRCm39) M203V possibly damaging Het
Chrna4 A G 2: 180,679,286 (GRCm39) S54P probably damaging Het
Cic TGTTGCCCTC T 7: 24,990,099 (GRCm39) probably benign Het
Cntn5 T A 9: 10,144,214 (GRCm39) I152L possibly damaging Het
Cntn6 A G 6: 104,705,245 (GRCm39) E154G probably benign Het
Col16a1 A C 4: 129,955,883 (GRCm39) probably benign Het
Cpvl C T 6: 53,908,918 (GRCm39) E282K probably benign Het
Cyth2 T C 7: 45,460,143 (GRCm39) D183G probably damaging Het
Ddx47 A T 6: 134,989,319 (GRCm39) T48S possibly damaging Het
Dgkk A G X: 6,794,751 (GRCm39) D685G probably benign Het
Dis3l C T 9: 64,238,080 (GRCm39) S29N unknown Het
Dlg5 T C 14: 24,187,249 (GRCm39) H1834R possibly damaging Het
Dnah10 T C 5: 124,905,536 (GRCm39) M4060T possibly damaging Het
Dock3 T A 9: 106,870,743 (GRCm39) N557I possibly damaging Het
Dync2i1 T C 12: 116,219,831 (GRCm39) E37G probably damaging Het
Eprs1 A T 1: 185,105,273 (GRCm39) probably benign Het
Faim2 C A 15: 99,422,581 (GRCm39) probably null Het
Faim2 T G 15: 99,422,582 (GRCm39) S72R probably benign Het
Fanca T C 8: 123,995,711 (GRCm39) T1364A probably damaging Het
Fance T C 17: 28,534,636 (GRCm39) probably benign Het
Farsb A T 1: 78,420,402 (GRCm39) H496Q possibly damaging Het
Fryl C T 5: 73,248,022 (GRCm39) E1032K possibly damaging Het
Galnt14 A T 17: 73,814,808 (GRCm39) probably benign Het
Gba2 A T 4: 43,568,619 (GRCm39) probably benign Het
Gjb4 C A 4: 127,245,571 (GRCm39) K123N probably damaging Het
Gmcl1 G A 6: 86,709,980 (GRCm39) T56I probably benign Het
Gtf2ird1 T A 5: 134,412,756 (GRCm39) E55V probably damaging Het
Gtpbp2 T C 17: 46,472,080 (GRCm39) V5A probably benign Het
Hnrnpr A G 4: 136,044,486 (GRCm39) probably benign Het
Homer3 G A 8: 70,742,793 (GRCm39) probably null Het
Hsd3b3 T C 3: 98,649,532 (GRCm39) S264G probably damaging Het
Ints8 T C 4: 11,227,152 (GRCm39) M574V probably benign Het
Kif4-ps G A 12: 101,115,477 (GRCm39) noncoding transcript Het
Klhl14 A T 18: 21,687,765 (GRCm39) N552K probably benign Het
Klhl40 A G 9: 121,609,799 (GRCm39) E528G probably damaging Het
Lactb2 T C 1: 13,717,624 (GRCm39) E133G probably damaging Het
Lratd2 A T 15: 60,695,478 (GRCm39) D89E probably benign Het
Lrrtm2 T C 18: 35,347,310 (GRCm39) probably null Het
Mab21l2 T A 3: 86,454,811 (GRCm39) Y63F probably benign Het
Mbd1 T A 18: 74,402,597 (GRCm39) I33N possibly damaging Het
Mertk G A 2: 128,643,132 (GRCm39) V844M probably benign Het
Myh11 T C 16: 14,044,448 (GRCm39) T652A possibly damaging Het
Nlrp4a C A 7: 26,148,943 (GRCm39) Y183* probably null Het
Noa1 T A 5: 77,447,600 (GRCm39) T558S probably benign Het
Nol11 A T 11: 107,071,826 (GRCm39) S256T possibly damaging Het
Nr1d1 G T 11: 98,662,086 (GRCm39) R183S possibly damaging Het
Nrg2 G T 18: 36,185,948 (GRCm39) Q264K possibly damaging Het
Nsd3 T A 8: 26,188,894 (GRCm39) F1027I probably damaging Het
Ntrk3 T A 7: 78,110,847 (GRCm39) I285F probably damaging Het
Obox8 T C 7: 14,066,771 (GRCm39) N91S possibly damaging Het
Oga T C 19: 45,760,384 (GRCm39) E258G probably benign Het
Orc5 C T 5: 22,751,520 (GRCm39) S63N probably benign Het
Osbpl6 C T 2: 76,398,552 (GRCm39) T412I probably benign Het
P2ry14 C T 3: 59,022,563 (GRCm39) C308Y probably damaging Het
Pacsin1 T C 17: 27,926,038 (GRCm39) F127L probably damaging Het
Pex11b T C 3: 96,551,151 (GRCm39) L198P possibly damaging Het
Pla2g4e A T 2: 120,001,669 (GRCm39) V660E probably damaging Het
Plxna4 C A 6: 32,493,885 (GRCm39) V244F possibly damaging Het
Polr3b A G 10: 84,550,233 (GRCm39) Y981C probably damaging Het
Popdc2 T A 16: 38,194,649 (GRCm39) S357T probably damaging Het
Prr29 A G 11: 106,267,159 (GRCm39) H58R probably damaging Het
Pyy T A 11: 101,998,178 (GRCm39) M1L possibly damaging Het
Rasd2 T C 8: 75,948,556 (GRCm39) S161P possibly damaging Het
Ryr3 C T 2: 112,826,900 (GRCm39) probably benign Het
Sectm1a G A 11: 120,960,552 (GRCm39) R88C possibly damaging Het
Serpinb13 C T 1: 106,910,574 (GRCm39) S66L probably damaging Het
Siglecf A T 7: 43,005,837 (GRCm39) I465F possibly damaging Het
Sorl1 A T 9: 41,915,347 (GRCm39) M1294K probably damaging Het
Spam1 A T 6: 24,796,661 (GRCm39) H204L probably benign Het
Sspo A T 6: 48,450,468 (GRCm39) N2586Y possibly damaging Het
Tbc1d4 A G 14: 101,700,263 (GRCm39) probably benign Het
Tceanc2 A T 4: 107,022,757 (GRCm39) S77T probably damaging Het
Tedc2 A G 17: 24,439,114 (GRCm39) probably benign Het
Tgm6 A G 2: 129,979,314 (GRCm39) D148G probably benign Het
Tgm6 A T 2: 129,983,128 (GRCm39) Q239L probably benign Het
Thsd7a T A 6: 12,337,313 (GRCm39) T1235S possibly damaging Het
Thsd7a T A 6: 12,504,012 (GRCm39) I381F possibly damaging Het
Tmc4 T C 7: 3,674,270 (GRCm39) probably null Het
Tmem54 A T 4: 129,004,704 (GRCm39) E186D possibly damaging Het
Tpk1 A T 6: 43,588,269 (GRCm39) F32I probably benign Het
Trpc4ap A G 2: 155,514,917 (GRCm39) I97T probably benign Het
Tut7 G A 13: 59,948,413 (GRCm39) T636I possibly damaging Het
Txlnb A G 10: 17,718,942 (GRCm39) E591G probably damaging Het
Tyk2 C T 9: 21,025,503 (GRCm39) A741T probably damaging Het
Ubr4 G A 4: 139,133,829 (GRCm39) E742K possibly damaging Het
Uckl1 A T 2: 181,216,661 (GRCm39) S95T possibly damaging Het
Uevld T A 7: 46,587,734 (GRCm39) D322V probably damaging Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Vmn1r238 G T 18: 3,123,300 (GRCm39) T38K probably damaging Het
Wdr83 T C 8: 85,806,680 (GRCm39) probably benign Het
Zfp619 A G 7: 39,183,559 (GRCm39) T51A probably benign Het
Other mutations in Vps8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00500:Vps8 APN 16 21,261,084 (GRCm39) missense possibly damaging 0.47
IGL00596:Vps8 APN 16 21,267,162 (GRCm39) splice site probably benign
IGL00985:Vps8 APN 16 21,296,334 (GRCm39) splice site probably benign
IGL01356:Vps8 APN 16 21,336,107 (GRCm39) critical splice donor site probably null
IGL01375:Vps8 APN 16 21,378,122 (GRCm39) nonsense probably null
IGL01643:Vps8 APN 16 21,336,972 (GRCm39) missense possibly damaging 0.92
IGL02159:Vps8 APN 16 21,285,234 (GRCm39) missense possibly damaging 0.69
IGL02214:Vps8 APN 16 21,336,035 (GRCm39) missense probably damaging 1.00
IGL02465:Vps8 APN 16 21,340,653 (GRCm39) missense probably damaging 1.00
IGL02651:Vps8 APN 16 21,336,086 (GRCm39) missense probably damaging 0.99
IGL03174:Vps8 APN 16 21,285,213 (GRCm39) missense probably damaging 1.00
IGL03337:Vps8 APN 16 21,381,918 (GRCm39) missense probably benign
IGL03383:Vps8 APN 16 21,254,573 (GRCm39) critical splice donor site probably null
IGL03402:Vps8 APN 16 21,267,148 (GRCm39) missense possibly damaging 0.68
empires UTSW 16 21,400,298 (GRCm39) nonsense probably null
porky UTSW 16 21,279,988 (GRCm39) missense probably benign 0.32
realm UTSW 16 21,363,986 (GRCm39) intron probably benign
realms UTSW 16 21,262,938 (GRCm39) splice site probably null
Reich UTSW 16 21,297,189 (GRCm39) missense probably benign 0.29
reichen UTSW 16 21,325,575 (GRCm39) splice site probably benign
IGL03052:Vps8 UTSW 16 21,267,115 (GRCm39) missense probably damaging 0.99
PIT4677001:Vps8 UTSW 16 21,319,084 (GRCm39) missense possibly damaging 0.94
R0066:Vps8 UTSW 16 21,296,273 (GRCm39) missense possibly damaging 0.77
R0066:Vps8 UTSW 16 21,296,273 (GRCm39) missense possibly damaging 0.77
R0125:Vps8 UTSW 16 21,288,904 (GRCm39) missense probably benign 0.00
R0137:Vps8 UTSW 16 21,323,136 (GRCm39) splice site probably benign
R0362:Vps8 UTSW 16 21,426,977 (GRCm39) intron probably benign
R0384:Vps8 UTSW 16 21,325,575 (GRCm39) splice site probably benign
R0492:Vps8 UTSW 16 21,261,107 (GRCm39) missense probably damaging 1.00
R0525:Vps8 UTSW 16 21,358,859 (GRCm39) critical splice donor site probably null
R0531:Vps8 UTSW 16 21,278,561 (GRCm39) intron probably benign
R0605:Vps8 UTSW 16 21,378,087 (GRCm39) missense probably benign 0.00
R0636:Vps8 UTSW 16 21,253,683 (GRCm39) missense probably benign 0.32
R0707:Vps8 UTSW 16 21,261,107 (GRCm39) missense probably damaging 1.00
R0840:Vps8 UTSW 16 21,275,071 (GRCm39) missense probably damaging 0.99
R1170:Vps8 UTSW 16 21,278,570 (GRCm39) intron probably benign
R1203:Vps8 UTSW 16 21,330,307 (GRCm39) missense probably damaging 1.00
R1482:Vps8 UTSW 16 21,400,348 (GRCm39) missense probably benign 0.00
R1531:Vps8 UTSW 16 21,285,226 (GRCm39) nonsense probably null
R1642:Vps8 UTSW 16 21,400,329 (GRCm39) missense probably benign
R1956:Vps8 UTSW 16 21,279,892 (GRCm39) missense probably damaging 1.00
R2201:Vps8 UTSW 16 21,395,507 (GRCm39) missense probably damaging 1.00
R2287:Vps8 UTSW 16 21,387,163 (GRCm39) missense probably damaging 1.00
R2423:Vps8 UTSW 16 21,378,087 (GRCm39) missense probably benign 0.00
R3151:Vps8 UTSW 16 21,261,123 (GRCm39) missense probably benign 0.04
R3943:Vps8 UTSW 16 21,288,873 (GRCm39) missense probably damaging 1.00
R3944:Vps8 UTSW 16 21,288,873 (GRCm39) missense probably damaging 1.00
R4043:Vps8 UTSW 16 21,345,146 (GRCm39) missense probably damaging 1.00
R4302:Vps8 UTSW 16 21,314,664 (GRCm39) missense probably damaging 1.00
R4398:Vps8 UTSW 16 21,323,216 (GRCm39) missense probably damaging 1.00
R4477:Vps8 UTSW 16 21,363,986 (GRCm39) intron probably benign
R4478:Vps8 UTSW 16 21,363,986 (GRCm39) intron probably benign
R4479:Vps8 UTSW 16 21,363,986 (GRCm39) intron probably benign
R4480:Vps8 UTSW 16 21,363,986 (GRCm39) intron probably benign
R4571:Vps8 UTSW 16 21,254,525 (GRCm39) missense probably damaging 1.00
R4653:Vps8 UTSW 16 21,318,960 (GRCm39) missense probably damaging 1.00
R4713:Vps8 UTSW 16 21,261,189 (GRCm39) missense probably damaging 1.00
R4726:Vps8 UTSW 16 21,267,154 (GRCm39) splice site probably null
R4959:Vps8 UTSW 16 21,278,536 (GRCm39) missense probably damaging 1.00
R4973:Vps8 UTSW 16 21,278,536 (GRCm39) missense probably damaging 1.00
R4975:Vps8 UTSW 16 21,285,219 (GRCm39) missense probably damaging 1.00
R4992:Vps8 UTSW 16 21,280,158 (GRCm39) missense possibly damaging 0.52
R5144:Vps8 UTSW 16 21,378,103 (GRCm39) missense probably damaging 1.00
R5168:Vps8 UTSW 16 21,351,849 (GRCm39) missense probably benign 0.05
R5168:Vps8 UTSW 16 21,276,195 (GRCm39) missense probably damaging 0.99
R5222:Vps8 UTSW 16 21,400,298 (GRCm39) nonsense probably null
R5231:Vps8 UTSW 16 21,395,475 (GRCm39) missense probably damaging 1.00
R5876:Vps8 UTSW 16 21,280,189 (GRCm39) critical splice donor site probably null
R5963:Vps8 UTSW 16 21,288,871 (GRCm39) missense possibly damaging 0.48
R6010:Vps8 UTSW 16 21,363,955 (GRCm39) intron probably benign
R6023:Vps8 UTSW 16 21,279,988 (GRCm39) missense probably benign 0.32
R6173:Vps8 UTSW 16 21,314,682 (GRCm39) splice site probably null
R6185:Vps8 UTSW 16 21,288,891 (GRCm39) missense probably damaging 0.98
R6264:Vps8 UTSW 16 21,378,099 (GRCm39) nonsense probably null
R6409:Vps8 UTSW 16 21,297,189 (GRCm39) missense probably benign 0.29
R6522:Vps8 UTSW 16 21,261,129 (GRCm39) missense probably damaging 0.99
R6528:Vps8 UTSW 16 21,372,875 (GRCm39) nonsense probably null
R6784:Vps8 UTSW 16 21,381,957 (GRCm39) missense probably benign 0.01
R7040:Vps8 UTSW 16 21,393,772 (GRCm39) missense probably damaging 1.00
R7072:Vps8 UTSW 16 21,400,329 (GRCm39) missense probably benign
R7103:Vps8 UTSW 16 21,345,191 (GRCm39) missense probably damaging 1.00
R7149:Vps8 UTSW 16 21,278,526 (GRCm39) missense probably damaging 1.00
R7195:Vps8 UTSW 16 21,275,032 (GRCm39) missense probably damaging 1.00
R7206:Vps8 UTSW 16 21,276,171 (GRCm39) missense probably damaging 1.00
R7403:Vps8 UTSW 16 21,253,722 (GRCm39) missense possibly damaging 0.78
R7782:Vps8 UTSW 16 21,330,308 (GRCm39) missense possibly damaging 0.89
R7806:Vps8 UTSW 16 21,278,501 (GRCm39) missense probably damaging 1.00
R7846:Vps8 UTSW 16 21,351,070 (GRCm39) missense probably benign 0.01
R7943:Vps8 UTSW 16 21,296,622 (GRCm39) missense possibly damaging 0.66
R8075:Vps8 UTSW 16 21,340,644 (GRCm39) missense probably damaging 0.99
R8190:Vps8 UTSW 16 21,393,780 (GRCm39) missense possibly damaging 0.73
R8307:Vps8 UTSW 16 21,314,652 (GRCm39) missense probably benign 0.02
R8483:Vps8 UTSW 16 21,393,763 (GRCm39) missense probably damaging 0.98
R8814:Vps8 UTSW 16 21,395,400 (GRCm39) missense probably damaging 1.00
R9064:Vps8 UTSW 16 21,288,979 (GRCm39) missense probably damaging 1.00
R9367:Vps8 UTSW 16 21,340,668 (GRCm39) missense possibly damaging 0.45
R9404:Vps8 UTSW 16 21,426,927 (GRCm39) missense probably benign 0.12
R9544:Vps8 UTSW 16 21,336,893 (GRCm39) missense probably benign 0.00
R9570:Vps8 UTSW 16 21,462,953 (GRCm39) missense probably benign 0.10
R9634:Vps8 UTSW 16 21,372,893 (GRCm39) missense probably damaging 1.00
R9702:Vps8 UTSW 16 21,462,883 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- GCAACACAGTGTTCCTTTCTAC -3'
(R):5'- GCAACCTTTATTCTCACGGC -3'

Sequencing Primer
(F):5'- GCCCTTCGATCTGTTAAAT -3'
(R):5'- CGGCTACACTAATTCCTCTATCAAG -3'
Posted On 2016-04-06