Incidental Mutation 'IGL03383:Vps8'
ID 420784
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vps8
Ensembl Gene ENSMUSG00000033653
Gene Name VPS8 CORVET complex subunit
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03383
Quality Score
Status
Chromosome 16
Chromosomal Location 21241868-21463430 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 21254573 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096191] [ENSMUST00000096191] [ENSMUST00000096192] [ENSMUST00000096192] [ENSMUST00000115397] [ENSMUST00000115397] [ENSMUST00000117598] [ENSMUST00000117598] [ENSMUST00000118923] [ENSMUST00000118923] [ENSMUST00000122235] [ENSMUST00000122235] [ENSMUST00000139473]
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: 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: 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: 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: 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: 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 benign
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
Predicted Effect probably benign
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
Predicted Effect probably benign
Transcript: ENSMUST00000139473
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl4 C T 4: 111,514,620 (GRCm39) probably benign Het
Cit T C 5: 116,011,904 (GRCm39) probably benign Het
Clmp A G 9: 40,685,737 (GRCm39) N211S probably damaging Het
Cnot2 A G 10: 116,330,722 (GRCm39) probably benign Het
Cntn6 A G 6: 104,753,418 (GRCm39) probably benign Het
Dnajb9 C T 12: 44,255,096 (GRCm39) probably benign Het
Ece2 T A 16: 20,451,847 (GRCm39) N411K possibly damaging Het
Fshr A G 17: 89,354,127 (GRCm39) I77T possibly damaging Het
Fshr A G 17: 89,293,121 (GRCm39) M519T probably damaging Het
Gm10654 G A 8: 71,384,775 (GRCm39) noncoding transcript Het
Gm5093 A G 17: 46,750,517 (GRCm39) I170T probably benign Het
Meis3 A G 7: 15,917,744 (GRCm39) K299R probably damaging Het
Nxf1 T C 19: 8,741,061 (GRCm39) F15L probably damaging Het
Nxpe3 T C 16: 55,670,076 (GRCm39) D343G probably benign Het
Or4a73 A T 2: 89,420,656 (GRCm39) Y268N probably benign Het
Polr3k A G 2: 181,507,820 (GRCm39) T65A probably damaging Het
Preb A T 5: 31,115,665 (GRCm39) W222R probably damaging Het
Psmd11 T C 11: 80,360,671 (GRCm39) I56T probably damaging Het
Rtkn2 A G 10: 67,853,667 (GRCm39) T232A probably damaging Het
Scaf11 T C 15: 96,318,064 (GRCm39) probably null Het
Slc4a10 A T 2: 62,097,780 (GRCm39) K493M probably damaging Het
Stard10 A G 7: 100,991,777 (GRCm39) K112E probably damaging Het
Sugp1 A T 8: 70,522,217 (GRCm39) probably benign Het
Tasor A G 14: 27,163,918 (GRCm39) I235V possibly damaging Het
Tmem156 T C 5: 65,233,040 (GRCm39) E139G probably damaging Het
Tubd1 C T 11: 86,439,834 (GRCm39) probably benign Het
Uap1 G A 1: 169,986,460 (GRCm39) T174M probably damaging Het
Vmn2r13 T C 5: 109,304,398 (GRCm39) T678A probably damaging Het
Vmn2r84 A T 10: 130,222,556 (GRCm39) C555S probably damaging Het
Vps13d T C 4: 144,894,889 (GRCm39) probably null Het
Wee1 A G 7: 109,738,899 (GRCm39) N590S probably damaging Het
Zfp112 C A 7: 23,825,103 (GRCm39) S357Y probably damaging Het
Zfp423 T A 8: 88,586,080 (GRCm39) K48* probably null Het
Zscan4d A G 7: 10,896,692 (GRCm39) V226A 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
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
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
Posted On 2016-08-02