Incidental Mutation 'R9570:Vps8'
ID 721949
Institutional Source Beutler Lab
Gene Symbol Vps8
Ensembl Gene ENSMUSG00000033653
Gene Name VPS8 CORVET complex subunit
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9570 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 21241868-21463430 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 21462953 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 1406 (F1406Y)
Ref Sequence ENSEMBL: ENSMUSP00000112937 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053336] [ENSMUST00000096192] [ENSMUST00000115397] [ENSMUST00000117598] [ENSMUST00000118923]
AlphaFold Q0P5W1
Predicted Effect probably benign
Transcript: ENSMUST00000053336
SMART Domains Protein: ENSMUSP00000062303
Gene: ENSMUSG00000043391

DomainStartEndE-ValueType
Pfam:UPF0524 12 248 1e-133 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000096192
AA Change: F1378Y

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000093906
Gene: ENSMUSG00000033653
AA Change: F1378Y

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: F1408Y

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000111055
Gene: ENSMUSG00000033653
AA Change: F1408Y

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: F1406Y

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000112937
Gene: ENSMUSG00000033653
AA Change: F1406Y

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: F1378Y

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000112636
Gene: ENSMUSG00000033653
AA Change: F1378Y

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: ENSMUST00000125487
SMART Domains Protein: ENSMUSP00000114719
Gene: ENSMUSG00000033653

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 C T 8: 41,277,687 (GRCm39) T26I probably benign Het
Adgrg7 A G 16: 56,570,813 (GRCm39) L405P probably damaging Het
Ankle1 A G 8: 71,859,424 (GRCm39) D106G probably damaging Het
Ankrd17 G T 5: 90,401,536 (GRCm39) D1609E Het
Anpep A G 7: 79,476,661 (GRCm39) V772A probably benign Het
Anxa8 T C 14: 33,814,509 (GRCm39) V115A possibly damaging Het
Aoc1 T C 6: 48,882,772 (GRCm39) F216S probably damaging Het
Aplf T A 6: 87,640,781 (GRCm39) E76V possibly damaging Het
Apol11b C T 15: 77,524,771 (GRCm39) E5K possibly damaging Het
Arhgap42 T A 9: 9,148,209 (GRCm39) Y120F Het
Atg2a T A 19: 6,305,749 (GRCm39) H1316Q probably benign Het
Atp8b3 A G 10: 80,361,822 (GRCm39) F743S probably benign Het
Best1 A T 19: 9,970,331 (GRCm39) W94R probably damaging Het
Catsper3 T C 13: 55,953,669 (GRCm39) probably null Het
Ccdc80 A T 16: 44,915,449 (GRCm39) E68D probably benign Het
Col8a1 T A 16: 57,448,539 (GRCm39) I324F unknown Het
Coro1c G A 5: 114,003,816 (GRCm39) R68* probably null Het
Dennd4c A G 4: 86,747,208 (GRCm39) D1464G possibly damaging Het
Dgat2 C T 7: 98,818,926 (GRCm39) V77I possibly damaging Het
Ecpas G A 4: 58,832,796 (GRCm39) R855* probably null Het
Ednra A C 8: 78,393,961 (GRCm39) N378K possibly damaging Het
Eif1ad4 A G 12: 87,862,534 (GRCm39) D132G unknown Het
Eml5 A T 12: 98,782,243 (GRCm39) D178E probably benign Het
Ethe1 G T 7: 24,293,236 (GRCm39) probably benign Het
Fgf21 C T 7: 45,264,594 (GRCm39) R46Q probably damaging Het
Flt3 C T 5: 147,309,424 (GRCm39) V198M possibly damaging Het
Fryl T C 5: 73,179,498 (GRCm39) N2970D probably benign Het
Gtf2e2 T A 8: 34,252,076 (GRCm39) D197E probably damaging Het
Gtf2i G A 5: 134,294,627 (GRCm39) R362W probably damaging Het
Gtpbp10 C T 5: 5,596,382 (GRCm39) G188R probably damaging Het
Gzmc A C 14: 56,469,042 (GRCm39) S226A probably benign Het
Hhatl A T 9: 121,613,282 (GRCm39) V471D possibly damaging Het
Hoxd11 T C 2: 74,512,812 (GRCm39) S26P possibly damaging Het
Ighv1-85 A T 12: 115,963,794 (GRCm39) W69R probably benign Het
Kcnk3 T C 5: 30,779,433 (GRCm39) L161P possibly damaging Het
Klk6 A G 7: 43,477,967 (GRCm39) D113G probably damaging Het
Map3k5 A G 10: 19,876,314 (GRCm39) I158V probably benign Het
Marchf8 T A 6: 116,382,639 (GRCm39) M434K probably benign Het
Mcc T C 18: 44,578,925 (GRCm39) R828G probably damaging Het
Muc4 A T 16: 32,569,695 (GRCm39) T252S possibly damaging Het
Naip5 T C 13: 100,359,821 (GRCm39) T472A probably benign Het
Nme7 A G 1: 164,206,961 (GRCm39) D282G probably benign Het
Npdc1 G T 2: 25,298,312 (GRCm39) A228S probably benign Het
Nrbp1 T A 5: 31,401,272 (GRCm39) S49R probably damaging Het
Ntan1 T C 16: 13,637,248 (GRCm39) V10A possibly damaging Het
Or10a3 A G 7: 108,480,504 (GRCm39) V103A possibly damaging Het
Or10b1 T C 10: 78,356,084 (GRCm39) V214A probably benign Het
Or51b4 A G 7: 103,530,856 (GRCm39) V198A probably benign Het
Pdcd2l T C 7: 33,892,401 (GRCm39) D156G probably benign Het
Pde11a A G 2: 75,877,157 (GRCm39) S771P probably damaging Het
Pilra T A 5: 137,834,342 (GRCm39) M14L probably benign Het
Pkd1l1 T A 11: 8,840,697 (GRCm39) E1237V Het
Pkp2 A T 16: 16,078,278 (GRCm39) T507S possibly damaging Het
Polm A G 11: 5,779,713 (GRCm39) Y362H probably damaging Het
Pramel12 A T 4: 143,144,514 (GRCm39) M287L probably benign Het
Prcd C T 11: 116,550,583 (GRCm39) S85F possibly damaging Het
Prox2 G A 12: 85,141,766 (GRCm39) Q146* probably null Het
Ptger1 T C 8: 84,395,461 (GRCm39) W313R probably damaging Het
Ptpn23 T C 9: 110,227,217 (GRCm39) E44G probably damaging Het
Rai1 A G 11: 60,076,568 (GRCm39) T211A probably benign Het
Rgl1 C A 1: 152,430,082 (GRCm39) D234Y possibly damaging Het
Rlf A G 4: 121,007,087 (GRCm39) V741A possibly damaging Het
Rnaseh2b T C 14: 62,597,978 (GRCm39) probably null Het
Selenon C T 4: 134,270,055 (GRCm39) R383H probably benign Het
Sh3rf2 A T 18: 42,272,620 (GRCm39) H368L possibly damaging Het
Slc9c1 A T 16: 45,380,705 (GRCm39) I544L probably benign Het
Smarca4 A G 9: 21,580,849 (GRCm39) E993G probably damaging Het
Stab1 T A 14: 30,864,638 (GRCm39) I1966F probably benign Het
Stard9 G A 2: 120,534,714 (GRCm39) S3657N probably benign Het
Tex15 G A 8: 34,067,309 (GRCm39) M2246I probably damaging Het
Ttc41 A T 10: 86,549,598 (GRCm39) N264I possibly damaging Het
Use1 T A 8: 71,820,473 (GRCm39) M96K possibly damaging Het
Vmn1r201 T C 13: 22,659,236 (GRCm39) I150T probably damaging Het
Vmn1r34 T C 6: 66,614,718 (GRCm39) I7V probably benign Het
Zfp788 A T 7: 41,300,006 (GRCm39) T881S possibly damaging Het
Zfp804a C T 2: 82,088,844 (GRCm39) T891I 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
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
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'- AAACACAGGGCTTTTCACTGC -3'
(R):5'- ATCTGCGGTCTGACCTGTAAC -3'

Sequencing Primer
(F):5'- GGCTTTTCACTGCCCTCTC -3'
(R):5'- CTGTAACAGGGAGAGTGCACTG -3'
Posted On 2022-08-09