Mutagenetix > Incidental Mutation

Incidental Mutation 'R6784:Vps8'

531581

Institutional Source

Beutler Lab

Gene Symbol

Vps8

Ensembl Gene

ENSMUSG00000033653

Gene Name

VPS8 CORVET complex subunit

Synonyms

MMRRC Submission

044898-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6784 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21241868-21463430 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 21381957 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 1130 (Q1130K)

Ref Sequence

ENSEMBL: ENSMUSP00000112937 (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: Q1130K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000093905
Gene: ENSMUSG00000033653
AA Change: Q1130K

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 benign
Transcript: ENSMUST00000096192
AA Change: Q1102K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000093906
Gene: ENSMUSG00000033653
AA Change: Q1102K

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 benign
Transcript: ENSMUST00000115397
AA Change: Q1132K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000111055
Gene: ENSMUSG00000033653
AA Change: Q1132K

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 benign
Transcript: ENSMUST00000117598
AA Change: Q1130K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000112937
Gene: ENSMUSG00000033653
AA Change: Q1130K

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 benign
Transcript: ENSMUST00000118923
AA Change: Q1102K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000112636
Gene: ENSMUSG00000033653
AA Change: Q1102K

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

Predicted Effect

unknown
Transcript: ENSMUST00000125487
AA Change: Q700K

SMART Domains

Protein: ENSMUSP00000114719
Gene: ENSMUSG00000033653
AA Change: Q700K

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.2%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	C	T	6: 23,093,895 (GRCm39)	S142N	probably null	Het
Aida	A	G	1: 183,103,346 (GRCm39)	Y275C	probably damaging	Het
Arrdc4	A	G	7: 68,398,594 (GRCm39)	I74T	probably benign	Het
C1ql4	A	G	15: 98,985,290 (GRCm39)	V107A	probably benign	Het
Ccnh	T	C	13: 85,360,884 (GRCm39)	V284A	probably benign	Het
Cd180	A	G	13: 102,839,213 (GRCm39)	E32G	probably damaging	Het
Chd6	T	C	2: 160,808,174 (GRCm39)	D1680G	probably damaging	Het
Cog7	A	T	7: 121,563,516 (GRCm39)		probably null	Het
Cyp2j6	T	A	4: 96,423,741 (GRCm39)	Q209L	possibly damaging	Het
Dars1	A	T	1: 128,319,084 (GRCm39)	V116E	probably damaging	Het
Dnah10	A	G	5: 124,854,890 (GRCm39)	K1932E	probably damaging	Het
Dock9	A	G	14: 121,780,926 (GRCm39)	S2086P	probably damaging	Het
Espl1	C	G	15: 102,207,660 (GRCm39)	R375G	probably benign	Het
Fer1l6	C	T	15: 58,443,275 (GRCm39)	S526L	possibly damaging	Het
Galnt9	G	A	5: 110,768,465 (GRCm39)	R587H	probably damaging	Het
Gigyf2	G	T	1: 87,371,396 (GRCm39)	V1170L	probably damaging	Het
Gm14412	G	T	2: 177,009,133 (GRCm39)	T41K	probably benign	Het
Gm45861	A	G	8: 27,990,086 (GRCm39)		probably null	Het
H2bc4	T	C	13: 23,868,483 (GRCm39)	I90T	probably damaging	Het
Hoxc5	A	G	15: 102,922,322 (GRCm39)		probably benign	Het
Jkampl	A	T	6: 73,445,918 (GRCm39)	Y210*	probably null	Het
Klra1	T	C	6: 130,349,817 (GRCm39)	D207G	probably benign	Het
Lancl2	A	G	6: 57,680,240 (GRCm39)	N57D	probably benign	Het
Map2k4	T	C	11: 65,582,577 (GRCm39)		probably benign	Het
Mgat3	G	T	15: 80,096,401 (GRCm39)	Q409H	probably damaging	Het
Mpp3	T	A	11: 101,892,974 (GRCm39)		probably null	Het
Myh1	T	A	11: 67,105,396 (GRCm39)	L1062Q	probably damaging	Het
Nebl	T	A	2: 17,439,725 (GRCm39)	K183*	probably null	Het
Npat	G	C	9: 53,469,458 (GRCm39)	D315H	probably damaging	Het
Nt5c2	A	G	19: 46,912,766 (GRCm39)	V63A	probably damaging	Het
Opn1sw	T	A	6: 29,379,846 (GRCm39)	E129D	probably damaging	Het
Or10ag2	C	T	2: 87,248,796 (GRCm39)	R135C	probably benign	Het
Or1e29	T	G	11: 73,667,676 (GRCm39)	H159P	probably damaging	Het
Or51t4	A	T	7: 102,597,722 (GRCm39)	T17S	possibly damaging	Het
Or5p1	A	T	7: 107,916,989 (GRCm39)	D296V	probably damaging	Het
Prdm16	T	C	4: 154,407,764 (GRCm39)	Y1153C	probably damaging	Het
Prdm6	T	A	18: 53,669,698 (GRCm39)	D105E	probably benign	Het
Pwwp4c	C	T	X: 73,684,021 (GRCm39)	R355H	probably damaging	Homo
Rbm27	T	C	18: 42,434,929 (GRCm39)	M331T	probably benign	Het
S1pr1	A	G	3: 115,505,710 (GRCm39)	Y295H	probably damaging	Het
Sgpp1	G	C	12: 75,782,243 (GRCm39)	P32R	probably benign	Het
Sla2	C	T	2: 156,725,589 (GRCm39)	S3N	unknown	Het
Slc10a6	A	G	5: 103,776,896 (GRCm39)	I68T	probably damaging	Het
Slc5a1	T	C	5: 33,315,460 (GRCm39)	F493S	probably benign	Het
Snx14	A	T	9: 88,263,845 (GRCm39)	Y847N	probably benign	Het
Tmc1	A	G	19: 20,805,015 (GRCm39)		probably null	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
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
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'- GCCATCACTGCTGTCACTGC -3'
(R):5'- CTTACACTCCTGGGAACACC -3'

Sequencing Primer
(F):5'- GGTATTGACACCCATGTTCAGG -3'
(R):5'- CCAAAGAGTGACTAAAGCCCAGATG -3'

Posted On

2018-08-29