Incidental Mutation 'R7206:Vps8'
ID 560659
Institutional Source Beutler Lab
Gene Symbol Vps8
Ensembl Gene ENSMUSG00000033653
Gene Name VPS8 CORVET complex subunit
Synonyms
MMRRC Submission 045284-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7206 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 21241868-21463430 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 21276171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 235 (I235L)
Ref Sequence ENSEMBL: ENSMUSP00000093905 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096191] [ENSMUST00000096192] [ENSMUST00000115397] [ENSMUST00000117598] [ENSMUST00000118923]
AlphaFold Q0P5W1
Predicted Effect probably damaging
Transcript: ENSMUST00000096191
AA Change: I235L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093905
Gene: ENSMUSG00000033653
AA Change: I235L

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 possibly damaging
Transcript: ENSMUST00000096192
AA Change: I237L

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000093906
Gene: ENSMUSG00000033653
AA Change: I237L

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 damaging
Transcript: ENSMUST00000115397
AA Change: I237L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000111055
Gene: ENSMUSG00000033653
AA Change: I237L

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 damaging
Transcript: ENSMUST00000117598
AA Change: I235L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000112937
Gene: ENSMUSG00000033653
AA Change: I235L

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: I237L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112636
Gene: ENSMUSG00000033653
AA Change: I237L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (87/88)
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 G A 3: 59,932,662 (GRCm39) M392I probably benign Het
Aadacl4fm2 T A 4: 144,285,211 (GRCm39) D142V probably damaging Het
Acr T C 15: 89,458,374 (GRCm39) S352P probably benign Het
Adam6a T C 12: 113,509,654 (GRCm39) C676R probably damaging Het
Adgra3 T C 5: 50,164,238 (GRCm39) D247G probably damaging Het
Agxt2 A T 15: 10,377,542 (GRCm39) E147D probably damaging Het
Atp2a1 T C 7: 126,047,144 (GRCm39) T805A probably benign Het
Atp8b4 T C 2: 126,300,212 (GRCm39) S106G probably damaging Het
Ccdc170 T A 10: 4,464,120 (GRCm39) M87K possibly damaging Het
Ccnl2 T G 4: 155,905,431 (GRCm39) V287G possibly damaging Het
Ccr6 A T 17: 8,475,781 (GRCm39) M329L probably benign Het
Cflar G T 1: 58,780,150 (GRCm39) M248I Het
Cib4 A T 5: 30,703,110 (GRCm39) L5* probably null Het
Col27a1 A T 4: 63,153,583 (GRCm39) Y645F probably benign Het
Cxcr2 A G 1: 74,198,213 (GRCm39) T236A possibly damaging Het
Dnah12 G A 14: 26,500,869 (GRCm39) probably null Het
Dnah7a A T 1: 53,737,792 (GRCm39) L47* probably null Het
Dnajb6 A C 5: 29,986,335 (GRCm39) K301T possibly damaging Het
Dpf2 T A 19: 5,954,571 (GRCm39) I157F possibly damaging Het
Drd4 G A 7: 140,872,032 (GRCm39) G28R probably damaging Het
Dus3l A T 17: 57,074,807 (GRCm39) I310F probably damaging Het
Dusp29 A G 14: 21,727,102 (GRCm39) V182A probably damaging Het
Eef1akmt3 A G 10: 126,876,862 (GRCm39) L95P probably damaging Het
Fabp7 C T 10: 57,661,087 (GRCm39) probably benign Het
Fam135a T C 1: 24,069,354 (GRCm39) N505S probably benign Het
Fam216b C A 14: 78,322,567 (GRCm39) D46Y probably damaging Het
Gata6 C T 18: 11,054,850 (GRCm39) R260C probably damaging Het
Gm10800 A AC 2: 98,497,378 (GRCm39) probably null Het
Golgb1 A G 16: 36,734,111 (GRCm39) I1160M probably benign Het
Hjv A T 3: 96,435,444 (GRCm39) D234V probably damaging Het
Kiss1 A G 1: 133,255,063 (GRCm39) K26E probably benign Het
Knl1 T A 2: 118,899,780 (GRCm39) F494I probably benign Het
Ktn1 T C 14: 47,932,985 (GRCm39) L713S probably damaging Het
Loxhd1 A G 18: 77,529,513 (GRCm39) D2052G probably damaging Het
Lpo A C 11: 87,698,249 (GRCm39) L582R probably damaging Het
Map2k3 A G 11: 60,834,406 (GRCm39) T125A Het
Matn3 T A 12: 9,011,170 (GRCm39) N360K probably benign Het
Mlip A T 9: 77,072,144 (GRCm39) V237E probably damaging Het
Mms22l T C 4: 24,591,146 (GRCm39) V999A probably benign Het
Mn1 A G 5: 111,568,378 (GRCm39) K783E possibly damaging Het
Myo1h A T 5: 114,457,836 (GRCm39) K132* probably null Het
Nle1 A G 11: 82,795,757 (GRCm39) V230A probably benign Het
Or1ak2 T A 2: 36,827,784 (GRCm39) Y218N probably damaging Het
Or1e1b-ps1 A T 11: 73,845,647 (GRCm39) I44F probably benign Het
Or4a68 T C 2: 89,270,801 (GRCm39) probably benign Het
Or4f62 T G 2: 111,986,804 (GRCm39) C169W probably damaging Het
Or51f23 T C 7: 102,452,891 (GRCm39) S69P probably damaging Het
Or7e169 C T 9: 19,757,856 (GRCm39) D20N probably damaging Het
Ormdl2 T A 10: 128,656,284 (GRCm39) H7L possibly damaging Het
Pam A G 1: 97,823,757 (GRCm39) S225P probably damaging Het
Pan2 C A 10: 128,150,414 (GRCm39) Y719* probably null Het
Ppfia4 T C 1: 134,255,127 (GRCm39) S243G probably benign Het
Ppig T G 2: 69,571,910 (GRCm39) S210A unknown Het
Ppwd1 A T 13: 104,350,106 (GRCm39) N426K probably damaging Het
Prxl2a T A 14: 40,726,142 (GRCm39) M12L probably benign Het
Rnf10 T G 5: 115,382,180 (GRCm39) D675A probably benign Het
Rrp12 A T 19: 41,866,478 (GRCm39) L619H probably damaging Het
Rsph10b C T 5: 143,898,010 (GRCm39) T497I possibly damaging Het
Scnm1 A T 3: 95,041,205 (GRCm39) M1K probably null Het
Scp2 G T 4: 107,931,638 (GRCm39) D332E probably benign Het
Senp3 T C 11: 69,569,557 (GRCm39) I314V probably benign Het
Sfmbt1 T A 14: 30,533,330 (GRCm39) probably null Het
Slc44a2 T C 9: 21,258,103 (GRCm39) F451S probably damaging Het
Slfn1 A T 11: 83,012,837 (GRCm39) M318L probably benign Het
Syne2 C T 12: 76,051,531 (GRCm39) S4087L probably benign Het
Syt7 A G 19: 10,395,337 (GRCm39) Y49C probably damaging Het
Tas2r134 T C 2: 51,518,120 (GRCm39) Y200H probably benign Het
Tgfbr1 A T 4: 47,402,941 (GRCm39) H315L probably damaging Het
Tmem184c A G 8: 78,323,206 (GRCm39) V552A possibly damaging Het
Tnxb A G 17: 34,923,075 (GRCm39) R2553G possibly damaging Het
Tomm40 C G 7: 19,444,861 (GRCm39) R173S probably benign Het
Tonsl T C 15: 76,517,851 (GRCm39) D650G probably damaging Het
Tpo G C 12: 30,153,133 (GRCm39) S407W possibly damaging Het
Trank1 T C 9: 111,174,583 (GRCm39) probably null Het
Trp53tg5 T C 2: 164,313,378 (GRCm39) E99G probably damaging Het
Tubb2a C A 13: 34,259,505 (GRCm39) S95I possibly damaging Het
Vav2 C A 2: 27,226,731 (GRCm39) R114L probably benign Het
Vmn1r172 A T 7: 23,359,582 (GRCm39) I156L possibly damaging Het
Vmn1r238 A G 18: 3,122,623 (GRCm39) Y264H possibly damaging Het
Vmn2r26 T A 6: 124,016,727 (GRCm39) M397K probably benign Het
Vmn2r73 T C 7: 85,522,075 (GRCm39) N88S probably benign Het
Vps13a T C 19: 16,731,662 (GRCm39) N150S probably damaging Het
Vps35 A T 8: 86,014,350 (GRCm39) Y100N probably damaging Het
Yipf2 T A 9: 21,501,657 (GRCm39) H157L probably damaging Het
Zfp354a A T 11: 50,961,073 (GRCm39) H426L probably damaging Het
Zfp503 G T 14: 22,035,553 (GRCm39) S454R possibly damaging Het
Zfp619 C T 7: 39,184,824 (GRCm39) R285C 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
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
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'- CAGTGCTCTAATGTGGTCTCAG -3'
(R):5'- CTGCTGCCAAACTGAGTTGG -3'

Sequencing Primer
(F):5'- CTCTAATGTGGTCTCAGTTGGTG -3'
(R):5'- GAAGCTGTATATGTTCATACCAGCCC -3'
Posted On 2019-06-26