Incidental Mutation 'R7782:Vps8'
ID 599339
Institutional Source Beutler Lab
Gene Symbol Vps8
Ensembl Gene ENSMUSG00000033653
Gene Name VPS8 CORVET complex subunit
Synonyms
MMRRC Submission 045838-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7782 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 21241868-21463430 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 21330308 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 727 (I727N)
Ref Sequence ENSEMBL: ENSMUSP00000093905 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096191] [ENSMUST00000096192] [ENSMUST00000115397] [ENSMUST00000117598] [ENSMUST00000118923]
AlphaFold Q0P5W1
Predicted Effect possibly damaging
Transcript: ENSMUST00000096191
AA Change: I727N

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000093905
Gene: ENSMUSG00000033653
AA Change: I727N

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 damaging
Transcript: ENSMUST00000096192
AA Change: I729N

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000093906
Gene: ENSMUSG00000033653
AA Change: I729N

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 possibly damaging
Transcript: ENSMUST00000115397
AA Change: I729N

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000111055
Gene: ENSMUSG00000033653
AA Change: I729N

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 possibly damaging
Transcript: ENSMUST00000117598
AA Change: I727N

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112937
Gene: ENSMUSG00000033653
AA Change: I727N

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 damaging
Transcript: ENSMUST00000118923
AA Change: I729N

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112636
Gene: ENSMUSG00000033653
AA Change: I729N

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
SMART Domains Protein: ENSMUSP00000114719
Gene: ENSMUSG00000033653
AA Change: I297N

DomainStartEndE-ValueType
Pfam:Vps8 182 365 8.5e-62 PFAM
low complexity region 563 578 N/A INTRINSIC
low complexity region 656 668 N/A INTRINSIC
low complexity region 697 708 N/A INTRINSIC
RING 828 879 1.23e-4 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (80/80)
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933415A04Rik GTGTGTGTATGTGTGT GTGTGTGT 11: 43,478,239 (GRCm39) probably null Het
Adamts16 A G 13: 70,984,265 (GRCm39) S133P probably damaging Het
Adamts17 T C 7: 66,774,802 (GRCm39) W1001R probably damaging Het
Aox4 T A 1: 58,270,251 (GRCm39) probably null Het
B4galnt4 C T 7: 140,644,988 (GRCm39) P221S probably damaging Het
BC005537 C T 13: 24,987,382 (GRCm39) R7W possibly damaging Het
BC034090 T C 1: 155,108,410 (GRCm39) probably benign Het
Best2 T A 8: 85,736,143 (GRCm39) D312V probably damaging Het
Bod1l A T 5: 41,975,286 (GRCm39) D2009E probably benign Het
Ccdc158 A C 5: 92,793,373 (GRCm39) S672A probably benign Het
Ccdc43 A T 11: 102,588,443 (GRCm39) L31Q probably damaging Het
Cdcp3 G A 7: 130,904,466 (GRCm39) probably null Het
Chaf1a T G 17: 56,369,291 (GRCm39) H507Q probably benign Het
Clptm1l A G 13: 73,752,439 (GRCm39) Y28C probably damaging Het
Cp G A 3: 20,029,223 (GRCm39) probably null Het
Crocc C T 4: 140,752,597 (GRCm39) A1432T probably benign Het
Crybg2 A G 4: 133,801,137 (GRCm39) T457A probably benign Het
Csnk2a1-ps3 C T 1: 156,352,552 (GRCm39) T251I probably damaging Het
Dennd4a A G 9: 64,814,202 (GRCm39) D1473G probably damaging Het
Diaph3 A G 14: 87,274,940 (GRCm39) F172S probably benign Het
Dnajc5b A G 3: 19,629,006 (GRCm39) N100S probably benign Het
Dusp13b G A 14: 21,791,404 (GRCm39) T16I possibly damaging Het
Epb42 T G 2: 120,864,916 (GRCm39) K58N probably benign Het
Fat1 A G 8: 45,403,948 (GRCm39) Y233C probably damaging Het
Fcgbp T A 7: 27,784,460 (GRCm39) Y173* probably null Het
Fign T A 2: 63,809,506 (GRCm39) D588V probably damaging Het
Fignl2 C T 15: 100,951,188 (GRCm39) V365M unknown Het
Fnip2 A C 3: 79,415,430 (GRCm39) Y203D probably benign Het
Ftsj3 CCTTCTTCTTCTTCTTCT CCTTCTTCTTCTTCT 11: 106,143,377 (GRCm39) probably benign Het
Gfral C A 9: 76,100,572 (GRCm39) V289L probably benign Het
H2bc21 T A 3: 96,128,487 (GRCm39) probably null Het
Heatr5b G T 17: 79,103,370 (GRCm39) T1161K probably damaging Het
Hectd4 A T 5: 121,443,784 (GRCm39) I1335F possibly damaging Het
Htt T A 5: 35,040,336 (GRCm39) V2166D probably benign Het
Ipo5 G C 14: 121,170,537 (GRCm39) K436N possibly damaging Het
Iqca1l A G 5: 24,749,224 (GRCm39) L758P probably damaging Het
Itga6 A G 2: 71,671,879 (GRCm39) E794G probably damaging Het
Itga9 G A 9: 118,672,712 (GRCm39) C148Y Het
Kcnip2 A C 19: 45,785,524 (GRCm39) probably null Het
Kcnk6 T C 7: 28,925,269 (GRCm39) T116A possibly damaging Het
Kctd21 A G 7: 96,997,297 (GRCm39) I257V probably benign Het
Kif19a G A 11: 114,672,748 (GRCm39) R299Q probably damaging Het
Kifc2 G A 15: 76,548,328 (GRCm39) G391R probably benign Het
Klrg2 A G 6: 38,604,562 (GRCm39) V381A possibly damaging Het
Mob1b A G 5: 88,897,542 (GRCm39) probably null Het
Or13p8 T C 4: 118,584,106 (GRCm39) Y221H probably damaging Het
Or6c69 T G 10: 129,747,392 (GRCm39) S252R probably damaging Het
Or6c75 T C 10: 129,337,020 (GRCm39) V81A probably benign Het
Or7c70 T C 10: 78,683,447 (GRCm39) I101V probably benign Het
Oxsm C A 14: 16,240,925 (GRCm38) A375S possibly damaging Het
Pcdha3 T C 18: 37,081,193 (GRCm39) V645A probably damaging Het
Pcdhb15 T A 18: 37,607,788 (GRCm39) V340E possibly damaging Het
Pced1a G A 2: 130,264,435 (GRCm39) P132S probably damaging Het
Pla2r1 C T 2: 60,334,531 (GRCm39) V414M probably benign Het
Plekhg4 A C 8: 106,104,399 (GRCm39) I493L probably benign Het
Plekhj1 T A 10: 80,634,179 (GRCm39) probably benign Het
Pmfbp1 G T 8: 110,254,412 (GRCm39) K482N probably damaging Het
Ppil3 T C 1: 58,473,574 (GRCm39) N92S probably benign Het
Ppt2 A G 17: 34,844,686 (GRCm39) S156P probably benign Het
Prss41 A T 17: 24,056,087 (GRCm39) D255E probably benign Het
Psg25 T A 7: 18,255,227 (GRCm39) M430L probably benign Het
Rffl A T 11: 82,703,595 (GRCm39) C109* probably null Het
Rock2 A G 12: 17,021,111 (GRCm39) E991G probably benign Het
Rpap2 A G 5: 107,768,058 (GRCm39) I299V probably benign Het
Rras T C 7: 44,670,529 (GRCm39) S158P probably benign Het
Serpinb10 G A 1: 107,463,196 (GRCm39) probably benign Het
Smyd3 A T 1: 178,799,859 (GRCm39) I360N possibly damaging Het
Synm A G 7: 67,384,714 (GRCm39) S541P probably damaging Het
Tasor A G 14: 27,193,901 (GRCm39) T1034A probably benign Het
Tbc1d31 C A 15: 57,821,764 (GRCm39) T813K possibly damaging Het
Trav7n-4 A G 14: 53,329,103 (GRCm39) M38V probably benign Het
Tulp3 A C 6: 128,301,943 (GRCm39) N359K possibly damaging Het
Twf1 T C 15: 94,480,654 (GRCm39) K196E probably benign Het
Usp24 A T 4: 106,173,771 (GRCm39) N35Y probably damaging Het
Usp46 T A 5: 74,162,772 (GRCm39) E342D probably benign Het
Vps50 T A 6: 3,532,202 (GRCm39) probably null Het
Wdr90 C T 17: 26,065,300 (GRCm39) R1652Q probably damaging Het
Zfp11 A T 5: 129,734,027 (GRCm39) V478E possibly damaging Het
Zfp493 A G 13: 67,935,123 (GRCm39) K359E probably benign Het
Zfp536 T C 7: 37,268,126 (GRCm39) Y430C probably damaging Het
Zfpm1 A G 8: 123,063,689 (GRCm39) D916G unknown 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
R4664:Vps8 UTSW 16 21,262,938 (GRCm39) splice site probably null
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
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'- AGCTTCACGTGGGTCTACAC -3'
(R):5'- ACATCAGAACCTCTCAGTGATG -3'

Sequencing Primer
(F):5'- GGGTCTACACAGGTCTTCAAGTAC -3'
(R):5'- TGTACACACGGAGGGGACAC -3'
Posted On 2019-11-26