Mutagenetix > Incidental Mutation

Incidental Mutation 'R4713:Vps8'

353400

Institutional Source

Beutler Lab

Gene Symbol

Vps8

Ensembl Gene

ENSMUSG00000033653

Gene Name

VPS8 CORVET complex subunit

Synonyms

MMRRC Submission

041601-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4713 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21241868-21463430 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21261189 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 110 (S110C)

Ref Sequence

ENSEMBL: ENSMUSP00000112636 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096191] [ENSMUST00000096192] [ENSMUST00000115397] [ENSMUST00000117598] [ENSMUST00000118923] [ENSMUST00000122235]

AlphaFold

Q0P5W1

Predicted Effect

probably damaging
Transcript: ENSMUST00000096191
AA Change: S110C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093905
Gene: ENSMUSG00000033653
AA Change: S110C

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 damaging
Transcript: ENSMUST00000096192
AA Change: S110C

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000093906
Gene: ENSMUSG00000033653
AA Change: S110C

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 damaging
Transcript: ENSMUST00000115397
AA Change: S110C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111055
Gene: ENSMUSG00000033653
AA Change: S110C

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 damaging
Transcript: ENSMUST00000117598
AA Change: S110C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112937
Gene: ENSMUSG00000033653
AA Change: S110C

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 damaging
Transcript: ENSMUST00000118923
AA Change: S110C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112636
Gene: ENSMUSG00000033653
AA Change: S110C

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: ENSMUST00000122235
AA Change: S110C

SMART Domains

Protein: ENSMUSP00000112622
Gene: ENSMUSG00000033653
AA Change: S110C

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	G	T	1: 25,586,613 (GRCm39)	T360K	probably damaging	Het
AW551984	T	C	9: 39,508,449 (GRCm39)	K356E	probably benign	Het
Bpifb2	T	A	2: 153,723,113 (GRCm39)	V123E	probably damaging	Het
Cacna1a	T	G	8: 85,276,143 (GRCm39)	F532V	probably damaging	Het
Cct8	C	A	16: 87,284,576 (GRCm39)	E204*	probably null	Het
Cd163	T	A	6: 124,294,577 (GRCm39)		probably null	Het
Cep152	C	A	2: 125,429,868 (GRCm39)	A685S	possibly damaging	Het
Chdh	A	G	14: 29,758,798 (GRCm39)	D581G	probably benign	Het
Cnpy3	A	C	17: 47,058,391 (GRCm39)	Y77*	probably null	Het
Col5a3	T	C	9: 20,704,870 (GRCm39)	E762G	unknown	Het
Creb3	A	G	4: 43,563,247 (GRCm39)	T115A	probably benign	Het
Dlat	G	T	9: 50,555,781 (GRCm39)	A412E	probably benign	Het
Dnah2	T	C	11: 69,367,514 (GRCm39)	N1789S	probably damaging	Het
Dzank1	C	T	2: 144,333,724 (GRCm39)	E370K	probably benign	Het
Eif3m	A	T	2: 104,837,184 (GRCm39)		probably null	Het
Gimap8	A	T	6: 48,635,920 (GRCm39)	M562L	probably benign	Het
Gprc6a	T	A	10: 51,507,553 (GRCm39)		probably benign	Het
Gsr	T	G	8: 34,170,347 (GRCm39)		probably null	Het
Gstcd	A	G	3: 132,688,860 (GRCm39)	V630A	probably damaging	Het
Hip1r	T	C	5: 124,128,043 (GRCm39)	I116T	probably benign	Het
Hivep3	A	G	4: 119,989,000 (GRCm39)	E1817G	probably damaging	Het
Inpp5f	A	C	7: 128,265,449 (GRCm39)	T135P	probably damaging	Het
Ism2	A	G	12: 87,331,801 (GRCm39)		silent	Het
Itga11	A	G	9: 62,673,070 (GRCm39)	D784G	probably damaging	Het
Itpr2	A	G	6: 146,274,671 (GRCm39)	F837S	probably damaging	Het
Itpr2	T	C	6: 146,298,456 (GRCm39)	E10G	probably damaging	Het
Knl1	A	T	2: 118,899,618 (GRCm39)	K440*	probably null	Het
Lonp2	T	C	8: 87,439,943 (GRCm39)	S648P	probably damaging	Het
Lrba	T	C	3: 86,267,175 (GRCm39)	S1622P	probably benign	Het
Lrp2	G	T	2: 69,318,310 (GRCm39)	A2047D	probably damaging	Het
Mcm3	G	A	1: 20,873,801 (GRCm39)	T773I	probably benign	Het
Mki67	A	G	7: 135,297,198 (GRCm39)	V2612A	probably benign	Het
Mnx1	C	A	5: 29,683,129 (GRCm39)	G49W	probably damaging	Het
Muc5b	T	A	7: 141,402,816 (GRCm39)	Y673*	probably null	Het
Myo15a	A	G	11: 60,370,756 (GRCm39)	H1172R	probably benign	Het
Myo1g	T	C	11: 6,466,080 (GRCm39)	K363R	probably null	Het
Ncoa4	T	A	14: 31,898,598 (GRCm39)	C473S	probably benign	Het
Nefh	T	C	11: 4,889,656 (GRCm39)	T988A	unknown	Het
Nwd2	T	A	5: 63,961,803 (GRCm39)	D462E	probably benign	Het
Or2av9	T	C	11: 58,380,913 (GRCm39)	T223A	probably benign	Het
Pira13	G	T	7: 3,825,680 (GRCm39)	Y396*	probably null	Het
Plec	T	C	15: 76,065,267 (GRCm39)	E1466G	unknown	Het
Prl3d2	G	T	13: 27,306,379 (GRCm39)	M35I	probably benign	Het
Reln	T	A	5: 22,357,461 (GRCm39)	I202F	probably benign	Het
Rhot1	T	A	11: 80,116,428 (GRCm39)	D78E	probably benign	Het
Rsph3b	T	C	17: 7,172,528 (GRCm39)		probably null	Het
Scn10a	C	T	9: 119,438,717 (GRCm39)	M1717I	probably damaging	Het
Sema6a	T	A	18: 47,382,363 (GRCm39)	H728L	possibly damaging	Het
Slc26a3	G	T	12: 31,507,079 (GRCm39)	A345S	possibly damaging	Het
Slc35d2	A	G	13: 64,247,097 (GRCm39)	V261A	possibly damaging	Het
Slc49a3	T	C	5: 108,589,945 (GRCm39)	T486A	probably damaging	Het
Ssmem1	A	G	6: 30,519,513 (GRCm39)	D66G	probably damaging	Het
Sult2a8	A	T	7: 14,159,402 (GRCm39)	N72K	probably benign	Het
Tbx10	T	C	19: 4,046,921 (GRCm39)	L108P	probably damaging	Het
Tex14	T	C	11: 87,427,691 (GRCm39)	S48P	probably damaging	Het
Tmie	A	G	9: 110,696,596 (GRCm39)	L95P	probably damaging	Het
Tom1l2	C	G	11: 60,161,259 (GRCm39)	R84P	probably damaging	Het
Trpm3	T	A	19: 22,866,799 (GRCm39)	D543E	possibly damaging	Het
Vipr2	A	C	12: 116,043,751 (GRCm39)	R49S	probably benign	Het
Zfp791	T	A	8: 85,837,597 (GRCm39)	N89I	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TCTGAATGAGGATGCATACACAG -3'
(R):5'- TCTGAAGAGTGTGCCCCAAC -3'

Sequencing Primer
(F):5'- AGCAGAAGCAGGCCCTTG -3'
(R):5'- CTCCAACAGCTGATTAATTACACTG -3'

Posted On

2015-10-21