Incidental Mutation 'R7846:Vps8'
ID 606647
Institutional Source Beutler Lab
Gene Symbol Vps8
Ensembl Gene ENSMUSG00000033653
Gene Name VPS8 CORVET complex subunit
Synonyms
MMRRC Submission 045900-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7846 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 21241868-21463430 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 21351070 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 916 (Q916K)
Ref Sequence ENSEMBL: ENSMUSP00000093905 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096191] [ENSMUST00000096192] [ENSMUST00000115397] [ENSMUST00000117598] [ENSMUST00000118923] [ENSMUST00000156580]
AlphaFold Q0P5W1
Predicted Effect probably benign
Transcript: ENSMUST00000096191
AA Change: Q916K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000093905
Gene: ENSMUSG00000033653
AA Change: Q916K

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: Q918K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000093906
Gene: ENSMUSG00000033653
AA Change: Q918K

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: Q918K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000111055
Gene: ENSMUSG00000033653
AA Change: Q918K

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: Q916K

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000112937
Gene: ENSMUSG00000033653
AA Change: Q916K

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: Q918K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000112636
Gene: ENSMUSG00000033653
AA Change: Q918K

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: Q486K

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
Predicted Effect probably benign
Transcript: ENSMUST00000156580
Predicted Effect probably benign
Transcript: ENSMUST00000232357
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas1 A G 5: 100,954,698 (GRCm39) V247A probably damaging Het
Acot13 G T 13: 25,002,133 (GRCm39) T103K probably damaging Het
Acsl6 A T 11: 54,251,901 (GRCm39) I683F probably damaging Het
Acss2 A T 2: 155,402,953 (GRCm39) H577L probably damaging Het
Ahctf1 A T 1: 179,614,638 (GRCm39) V382D probably damaging Het
Aldob T C 4: 49,538,858 (GRCm39) H220R probably damaging Het
Ankrd1 C T 19: 36,094,218 (GRCm39) V169M probably damaging Het
Atp5f1a G A 18: 77,869,015 (GRCm39) R413H possibly damaging Het
Cep76 A G 18: 67,762,975 (GRCm39) F283L probably damaging Het
Chrna5 A T 9: 54,912,391 (GRCm39) D397V probably benign Het
Coro7 T C 16: 4,488,400 (GRCm39) D90G probably damaging Het
Csnk1g3 A G 18: 54,081,177 (GRCm39) N383D probably benign Het
Cwf19l2 C A 9: 3,477,889 (GRCm39) Q865K probably damaging Het
Cyth2 C A 7: 45,460,378 (GRCm39) W149C probably damaging Het
Dgkh C A 14: 78,856,026 (GRCm39) R349L probably damaging Het
Dnajc1 G T 2: 18,224,704 (GRCm39) T383N possibly damaging Het
Efcab3 T A 11: 104,605,571 (GRCm39) probably null Het
Extl3 A T 14: 65,313,181 (GRCm39) M667K probably damaging Het
Fam149a G T 8: 45,811,678 (GRCm39) A75E Het
Fgd4 T G 16: 16,240,590 (GRCm39) Q713P probably damaging Het
Frat2 T A 19: 41,836,215 (GRCm39) I46F probably damaging Het
Gzmc A G 14: 56,469,017 (GRCm39) V234A probably damaging Het
H2-Q4 A G 17: 35,599,134 (GRCm39) N135D probably damaging Het
Ighv1-85 A T 12: 115,963,937 (GRCm39) V21D possibly damaging Het
Itprid1 A G 6: 55,955,320 (GRCm39) Q976R possibly damaging Het
Kcna6 A T 6: 126,715,983 (GRCm39) V302E probably damaging Het
Kdm3b G T 18: 34,942,293 (GRCm39) V795L possibly damaging Het
Kdm5b G A 1: 134,545,578 (GRCm39) R913H probably damaging Het
Lpp T A 16: 24,426,876 (GRCm39) M1K probably null Het
Med12l T C 3: 59,172,355 (GRCm39) S1704P probably damaging Het
Mfsd10 G T 5: 34,793,456 (GRCm39) S95* probably null Het
Napepld C T 5: 21,880,721 (GRCm39) E225K probably benign Het
Ndfip2 T C 14: 105,535,448 (GRCm39) F245L probably damaging Het
Oaf G A 9: 43,134,077 (GRCm39) R215C probably damaging Het
Or10k2 A G 8: 84,268,526 (GRCm39) H251R probably damaging Het
Or13a20 C T 7: 140,232,374 (GRCm39) H161Y probably damaging Het
Or51i1 A G 7: 103,670,736 (GRCm39) I263T possibly damaging Het
Or52z15 A G 7: 103,332,407 (GRCm39) I161V probably benign Het
Or5p6 A G 7: 107,631,199 (GRCm39) I117T probably benign Het
Or8b47 A G 9: 38,435,675 (GRCm39) T216A probably benign Het
Pcdhgb2 A T 18: 37,825,273 (GRCm39) I755F possibly damaging Het
Pde4dip A G 3: 97,622,490 (GRCm39) L1573P probably damaging Het
Peg3 A T 7: 6,713,650 (GRCm39) V524E probably damaging Het
Phc1 G T 6: 122,310,329 (GRCm39) T126N probably damaging Het
Phf1 C A 17: 27,154,291 (GRCm39) Y169* probably null Het
Pramel25 A T 4: 143,520,563 (GRCm39) D269V probably benign Het
Prl3a1 G A 13: 27,456,442 (GRCm39) E99K probably damaging Het
Prss57 G A 10: 79,623,213 (GRCm39) A78V probably damaging Het
Ptprb A T 10: 116,119,453 (GRCm39) T196S probably benign Het
Rgsl1 A T 1: 153,701,783 (GRCm39) C224S possibly damaging Het
Rtn4 T C 11: 29,643,274 (GRCm39) V29A unknown Het
Selplg G A 5: 113,957,481 (GRCm39) T275M probably damaging Het
Skint11 C T 4: 114,102,076 (GRCm39) T363I possibly damaging Het
Slc22a29 T A 19: 8,170,851 (GRCm39) I289F probably benign Het
Slc26a2 A G 18: 61,331,776 (GRCm39) S552P probably benign Het
Sptb T A 12: 76,655,300 (GRCm39) K1480* probably null Het
Sptbn1 C A 11: 30,092,153 (GRCm39) M537I probably damaging Het
Sqor A T 2: 122,627,008 (GRCm39) H43L probably benign Het
Srcin1 C A 11: 97,416,926 (GRCm39) E913* probably null Het
Srgap1 A G 10: 121,621,397 (GRCm39) L1032P probably damaging Het
Stc2 T C 11: 31,315,413 (GRCm39) K142R probably benign Het
Stox1 A C 10: 62,495,305 (GRCm39) N989K probably damaging Het
Tert T A 13: 73,776,314 (GRCm39) L355H probably damaging Het
Tfb2m A G 1: 179,358,926 (GRCm39) F319S probably damaging Het
Trps1 A G 15: 50,695,273 (GRCm39) F341L probably damaging Het
Ttk T C 9: 83,725,732 (GRCm39) V218A probably benign Het
Vmn1r159 A G 7: 22,542,696 (GRCm39) I112T probably benign Het
Wdr12 A T 1: 60,121,225 (GRCm39) D364E probably damaging Het
Ylpm1 A G 12: 85,104,042 (GRCm39) E2019G probably damaging Het
Zfp267 C A 3: 36,219,738 (GRCm39) T587N probably benign Het
Zfp507 A G 7: 35,493,963 (GRCm39) L360P probably damaging 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
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'- TGAGATTCCAAGTCTGAGGCG -3'
(R):5'- TGTCTATCACTGGGTTACACACTC -3'

Sequencing Primer
(F):5'- GCGCCCTTGGATTAGAATTCTTAGAC -3'
(R):5'- TGGGTTACACACTCAAACTACAGG -3'
Posted On 2019-12-20