Mutagenetix > Incidental Mutation

Incidental Mutation 'R5876:Vps8'

455557

Institutional Source

Beutler Lab

Gene Symbol

Vps8

Ensembl Gene

ENSMUSG00000033653

Gene Name

VPS8 CORVET complex subunit

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5876 (G1)

Quality Score

225

Status

Not validated

Chromosome

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 21280189 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112636 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096191] [ENSMUST00000096192] [ENSMUST00000115397] [ENSMUST00000117598] [ENSMUST00000118923]

AlphaFold

Q0P5W1

Predicted Effect

probably null
Transcript: ENSMUST00000096191

SMART Domains

Protein: ENSMUSP00000093905
Gene: ENSMUSG00000033653

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034E13Rik	A	G	18: 52,796,654 (GRCm39)	D64G	possibly damaging	Het
Ano2	T	A	6: 126,016,242 (GRCm39)	M925K	possibly damaging	Het
Arnt2	T	C	7: 83,996,720 (GRCm39)	T69A	probably damaging	Het
Asap2	T	A	12: 21,262,810 (GRCm39)	N229K	possibly damaging	Het
Atp13a3	T	A	16: 30,181,552 (GRCm39)	N23Y	probably benign	Het
Cbr4	G	A	8: 61,943,627 (GRCm39)	G91R	possibly damaging	Het
Cdc27	A	T	11: 104,406,244 (GRCm39)	C624S	probably benign	Het
Cdc42bpg	T	A	19: 6,360,845 (GRCm39)	I201N	probably damaging	Het
Cdh5	A	G	8: 104,869,209 (GRCm39)	Y645C	probably damaging	Het
Celsr2	C	T	3: 108,321,259 (GRCm39)	V518I	probably damaging	Het
Clca4b	T	C	3: 144,617,821 (GRCm39)	T761A	possibly damaging	Het
Cpne4	C	A	9: 104,802,969 (GRCm39)	S204R	probably damaging	Het
Dcaf1	T	C	9: 106,740,849 (GRCm39)	W1279R	probably damaging	Het
Dennd4a	C	T	9: 64,819,037 (GRCm39)	P1731S	probably damaging	Het
Dmxl1	T	A	18: 50,004,051 (GRCm39)	V892D	possibly damaging	Het
Fam131b	A	G	6: 42,298,182 (GRCm39)		probably null	Het
Fam83b	T	A	9: 76,399,132 (GRCm39)	D657V	possibly damaging	Het
Fam83e	T	A	7: 45,371,787 (GRCm39)		probably null	Het
Fbxo4	A	T	15: 4,007,301 (GRCm39)	I121N	probably damaging	Het
Gabrg2	A	G	11: 41,859,647 (GRCm39)	S202P	probably damaging	Het
Grid2	T	A	6: 64,640,146 (GRCm39)	I788N	probably damaging	Het
Grik4	T	A	9: 42,599,319 (GRCm39)	N53Y	probably damaging	Het
Hipk2	A	C	6: 38,707,802 (GRCm39)		probably null	Het
Hps5	T	C	7: 46,438,620 (GRCm39)	T38A	probably damaging	Het
Hs1bp3	A	G	12: 8,391,843 (GRCm39)	D315G	possibly damaging	Het
Kdm4a	C	T	4: 117,996,073 (GRCm39)	M985I	probably damaging	Het
Kdm5d	A	G	Y: 900,525 (GRCm39)	Y190C	probably damaging	Het
Krt86	T	C	15: 101,374,491 (GRCm39)	S295P	probably damaging	Het
Matr3	T	A	18: 35,720,791 (GRCm39)	D413E	probably benign	Het
Mbd5	T	A	2: 49,164,657 (GRCm39)	F319L	probably damaging	Het
Mcoln1	T	A	8: 3,560,910 (GRCm39)	Y411N	probably damaging	Het
Mpdz	C	A	4: 81,203,711 (GRCm39)	E1863*	probably null	Het
Mrps9	A	G	1: 42,934,538 (GRCm39)	E173G	probably damaging	Het
Or7a42	A	T	10: 78,791,191 (GRCm39)	I51F	probably benign	Het
Osmr	T	C	15: 6,850,528 (GRCm39)	T692A	probably benign	Het
Pkhd1l1	A	T	15: 44,441,984 (GRCm39)	H3641L	possibly damaging	Het
Pml	T	C	9: 58,140,465 (GRCm39)	T421A	possibly damaging	Het
Podxl	A	G	6: 31,505,391 (GRCm39)		probably null	Het
Ppargc1b	C	G	18: 61,442,164 (GRCm39)	D591H	probably damaging	Het
Prkag3	A	G	1: 74,787,975 (GRCm39)		probably benign	Het
Proz	A	G	8: 13,123,448 (GRCm39)	R240G	probably benign	Het
Ptpn13	C	A	5: 103,624,826 (GRCm39)	D43E	probably damaging	Het
Rbm5	T	G	9: 107,637,525 (GRCm39)	K135N	probably damaging	Het
Ska1	G	A	18: 74,330,599 (GRCm39)	T201M	probably damaging	Het
Slc35f5	A	C	1: 125,515,100 (GRCm39)		probably null	Het
Slc9a3	T	C	13: 74,309,842 (GRCm39)	L510P	probably damaging	Het
Speer4a2	T	C	5: 26,289,716 (GRCm39)	E237G	probably damaging	Het
Svil	A	G	18: 5,082,828 (GRCm39)	K1231E	probably damaging	Het
Tanc2	T	C	11: 105,813,439 (GRCm39)	S1628P	possibly damaging	Het
Tm9sf3	T	A	19: 41,229,023 (GRCm39)	D260V	probably damaging	Het
Ttc9	G	T	12: 81,678,396 (GRCm39)	R73L	probably damaging	Het
Vps13b	A	G	15: 35,917,207 (GRCm39)	I3684V	probably damaging	Het
Vwa3b	T	A	1: 37,115,520 (GRCm39)	I328N	probably damaging	Het
Wdr1	C	T	5: 38,687,366 (GRCm39)	V222M	probably benign	Het
Xpnpep1	T	A	19: 52,985,439 (GRCm39)	T530S	probably damaging	Het
Zc3h6	C	T	2: 128,835,197 (GRCm39)	S111F	probably benign	Het
Zfp768	G	A	7: 126,943,718 (GRCm39)	P137S	probably benign	Het

Other mutations in Vps8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- CCATGGCGTCCTTAACAAAGG -3'
(R):5'- TCATGAGAGAACAGCTTCACAC -3'

Sequencing Primer
(F):5'- CGTCCTTAACAAAGGTAGGTATGC -3'
(R):5'- GCAGGTACCATCTAGCATGACTC -3'

Posted On

2017-02-10