Incidental Mutation 'R0636:Vps8'
ID 56717
Institutional Source Beutler Lab
Gene Symbol Vps8
Ensembl Gene ENSMUSG00000033653
Gene Name VPS8 CORVET complex subunit
Synonyms
MMRRC Submission 038825-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0636 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 21241868-21463430 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21253683 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 8 (E8G)
Ref Sequence ENSEMBL: ENSMUSP00000119311 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096191] [ENSMUST00000096192] [ENSMUST00000115397] [ENSMUST00000117598] [ENSMUST00000118923] [ENSMUST00000122235] [ENSMUST00000139473]
AlphaFold Q0P5W1
Predicted Effect probably benign
Transcript: ENSMUST00000096191
AA Change: E8G

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000093905
Gene: ENSMUSG00000033653
AA Change: E8G

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 benign
Transcript: ENSMUST00000096192
AA Change: E8G

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000093906
Gene: ENSMUSG00000033653
AA Change: E8G

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 benign
Transcript: ENSMUST00000115397
AA Change: E8G

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000111055
Gene: ENSMUSG00000033653
AA Change: E8G

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 benign
Transcript: ENSMUST00000117598
AA Change: E8G

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000112937
Gene: ENSMUSG00000033653
AA Change: E8G

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 benign
Transcript: ENSMUST00000118923
AA Change: E8G

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000112636
Gene: ENSMUSG00000033653
AA Change: E8G

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 unknown
Transcript: ENSMUST00000122235
AA Change: E8G
SMART Domains Protein: ENSMUSP00000112622
Gene: ENSMUSG00000033653
AA Change: E8G

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
Predicted Effect probably benign
Transcript: ENSMUST00000139473
AA Change: E8G

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
Meta Mutation Damage Score 0.1070 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.7%
Validation Efficiency 96% (74/77)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T C 4: 103,088,414 (GRCm39) Y264C probably damaging Het
8030423J24Rik T C 13: 71,032,344 (GRCm39) F139L unknown Het
Aco1 A G 4: 40,175,697 (GRCm39) E146G probably damaging Het
Adam2 T G 14: 66,272,265 (GRCm39) D639A probably benign Het
Adh4 G T 3: 138,133,835 (GRCm39) R315L probably damaging Het
Adprhl1 T C 8: 13,298,702 (GRCm39) D76G probably damaging Het
Akip1 T C 7: 109,306,726 (GRCm39) probably benign Het
Ap3d1 T A 10: 80,555,216 (GRCm39) K370* probably null Het
Arfgef1 C A 1: 10,270,076 (GRCm39) V358L probably benign Het
Arpp21 A T 9: 112,012,566 (GRCm39) D85E probably benign Het
Azi2 A T 9: 117,891,125 (GRCm39) L383F probably benign Het
Bpgm T A 6: 34,481,222 (GRCm39) D206E probably benign Het
Bsn T C 9: 107,985,033 (GRCm39) D3007G unknown Het
Ccdc142 T G 6: 83,084,179 (GRCm39) probably benign Het
Cep135 T C 5: 76,763,504 (GRCm39) V498A probably benign Het
Cntn6 A T 6: 104,840,109 (GRCm39) Q1003L probably benign Het
Cntnap2 T A 6: 47,273,642 (GRCm39) probably benign Het
Csf2rb2 G A 15: 78,176,160 (GRCm39) Q139* probably null Het
Cyp3a16 A G 5: 145,399,895 (GRCm39) V101A probably benign Het
D630045J12Rik T C 6: 38,173,713 (GRCm39) T152A probably benign Het
Def8 G A 8: 124,181,096 (GRCm39) W176* probably null Het
Dgkg A G 16: 22,398,479 (GRCm39) probably benign Het
Ear10 T C 14: 44,160,451 (GRCm39) probably null Het
Fbxw2 A T 2: 34,712,859 (GRCm39) Y67* probably null Het
Flii T A 11: 60,606,378 (GRCm39) Y1104F probably damaging Het
Gm973 G A 1: 59,590,303 (GRCm39) R270K probably benign Het
Gnl3 T A 14: 30,739,110 (GRCm39) K75N probably damaging Het
Gpc6 A T 14: 117,861,905 (GRCm39) M274L probably benign Het
Ifi47 A G 11: 48,987,478 (GRCm39) E415G possibly damaging Het
Ift57 A G 16: 49,532,259 (GRCm39) T130A probably benign Het
Itpr2 T A 6: 146,072,910 (GRCm39) D2373V probably damaging Het
Kat6a T C 8: 23,429,339 (GRCm39) S1565P possibly damaging Het
Klhl6 A T 16: 19,766,823 (GRCm39) probably benign Het
Klra2 T C 6: 131,197,067 (GRCm39) probably benign Het
Lama5 A G 2: 179,831,124 (GRCm39) probably null Het
Mapk4 A G 18: 74,063,525 (GRCm39) S566P probably benign Het
Mindy4 C A 6: 55,253,570 (GRCm39) R480S possibly damaging Het
Mterf3 T C 13: 67,070,817 (GRCm39) probably benign Het
Mtmr2 A G 9: 13,713,209 (GRCm39) probably null Het
Myef2l T C 3: 10,153,843 (GRCm39) L204P possibly damaging Het
Naip5 T C 13: 100,356,196 (GRCm39) T1140A probably benign Het
Nf1 A G 11: 79,426,529 (GRCm39) T1648A probably damaging Het
Nlk A T 11: 78,586,670 (GRCm39) D141E probably benign Het
Noxa1 C A 2: 24,976,106 (GRCm39) probably benign Het
Or4g16 A G 2: 111,136,757 (GRCm39) N69S probably benign Het
Or5b121 A T 19: 13,507,613 (GRCm39) Y236F possibly damaging Het
Or5p55 T C 7: 107,566,679 (GRCm39) V25A probably benign Het
Otog G A 7: 45,913,652 (GRCm39) probably null Het
Pebp4 T C 14: 70,285,796 (GRCm39) probably benign Het
Phgdh G T 3: 98,240,607 (GRCm39) N100K possibly damaging Het
Pnisr T A 4: 21,873,800 (GRCm39) probably benign Het
Ptpn6 T C 6: 124,702,242 (GRCm39) H346R probably benign Het
Rsf1 T C 7: 97,311,226 (GRCm39) V652A possibly damaging Het
Rubcn G A 16: 32,649,056 (GRCm39) H624Y probably damaging Het
Semp2l2a T C 8: 13,887,870 (GRCm39) R74G probably benign Het
Setdb2 T C 14: 59,644,153 (GRCm39) N656D probably benign Het
Slc22a23 T C 13: 34,483,076 (GRCm39) T268A probably benign Het
Slc3a1 A T 17: 85,340,222 (GRCm39) T215S possibly damaging Het
Srsf2 A G 11: 116,742,904 (GRCm39) S206P probably benign Het
Susd2 T A 10: 75,475,184 (GRCm39) D542V probably damaging Het
Svep1 G A 4: 58,073,121 (GRCm39) Q2063* probably null Het
Syne2 G A 12: 75,977,757 (GRCm39) V1401M possibly damaging Het
Tenm2 A G 11: 36,834,803 (GRCm39) L64P probably damaging Het
Tigd2 A G 6: 59,188,272 (GRCm39) T380A possibly damaging Het
Trmt12 G T 15: 58,745,834 (GRCm39) V411F probably damaging Het
Ubr4 T C 4: 139,163,613 (GRCm39) probably null Het
Ush2a G A 1: 188,554,935 (GRCm39) C3571Y probably benign Het
Usp8 A G 2: 126,562,030 (GRCm39) M75V possibly damaging Het
Vcan C T 13: 89,852,825 (GRCm39) D712N probably damaging Het
Vcan C A 13: 89,860,386 (GRCm39) R327L probably damaging Het
Washc5 T C 15: 59,231,258 (GRCm39) D335G probably benign Het
Zbtb39 A G 10: 127,578,704 (GRCm39) N426S probably benign Het
Zfp184 T A 13: 22,133,919 (GRCm39) D55E probably damaging Het
Zfp882 T C 8: 72,668,181 (GRCm39) V336A 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
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
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'- TGCCTGCAAACAGATGACCAAGTG -3'
(R):5'- CCAGAGTGCCCTGTAAACGGTAAC -3'

Sequencing Primer
(F):5'- AATCTCATCAAGGGTGTCTCTG -3'
(R):5'- TGTGGGTCACTAAGCACAC -3'
Posted On 2013-07-11