Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03174:Vps8'

411939

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vps8

Ensembl Gene

ENSMUSG00000033653

Gene Name

VPS8 CORVET complex subunit

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03174

Quality Score

Status

Chromosome

Chromosomal Location

21241868-21463430 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21285213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 398 (L398H)

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: L396H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000093905
Gene: ENSMUSG00000033653
AA Change: L396H

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: L398H

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000093906
Gene: ENSMUSG00000033653
AA Change: L398H

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: L398H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111055
Gene: ENSMUSG00000033653
AA Change: L398H

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: L396H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112937
Gene: ENSMUSG00000033653
AA Change: L396H

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: L398H

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

SMART Domains

Protein: ENSMUSP00000112636
Gene: ENSMUSG00000033653
AA Change: L398H

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

probably benign
Transcript: ENSMUST00000122235

SMART Domains

Protein: ENSMUSP00000112622
Gene: ENSMUSG00000033653

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

Predicted Effect

probably benign
Transcript: ENSMUST00000125487

SMART Domains

Protein: ENSMUSP00000114719
Gene: ENSMUSG00000033653

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	C	5: 8,877,752 (GRCm39)	L703P	probably benign	Het
Abi3bp	A	G	16: 56,435,110 (GRCm39)	K602R	possibly damaging	Het
Ank2	T	C	3: 126,733,744 (GRCm39)	D622G	probably damaging	Het
Bpifb1	T	A	2: 154,054,969 (GRCm39)	L287Q	probably damaging	Het
Brd8	T	C	18: 34,737,962 (GRCm39)	E774G	probably damaging	Het
Cnot1	A	G	8: 96,487,983 (GRCm39)	S558P	probably damaging	Het
Col15a1	T	C	4: 47,282,666 (GRCm39)	I781T	probably damaging	Het
Cyp2j7	T	A	4: 96,083,607 (GRCm39)	R448*	probably null	Het
Dgkb	A	T	12: 38,266,053 (GRCm39)	I511F	possibly damaging	Het
Fam221b	T	C	4: 43,666,542 (GRCm39)	E23G	probably benign	Het
Gm17067	C	A	7: 42,360,100 (GRCm39)		probably null	Het
Grin3a	T	A	4: 49,771,107 (GRCm39)	D555V	probably damaging	Het
Hid1	T	C	11: 115,251,215 (GRCm39)	Y107C	probably damaging	Het
Kcnd2	A	G	6: 21,216,515 (GRCm39)	D73G	possibly damaging	Het
Kit	A	G	5: 75,767,773 (GRCm39)	D52G	probably benign	Het
Llgl1	G	T	11: 60,597,036 (GRCm39)	R189L	probably benign	Het
Lrp2	T	A	2: 69,296,609 (GRCm39)	D3315V	probably damaging	Het
Map3k8	A	G	18: 4,349,247 (GRCm39)	S24P	probably damaging	Het
Nckap5	A	G	1: 125,909,383 (GRCm39)	L1616P	probably damaging	Het
Nrcam	A	G	12: 44,622,789 (GRCm39)		probably benign	Het
Or2d2b	A	T	7: 106,705,477 (GRCm39)	M197K	probably benign	Het
Or5b119	A	G	19: 13,457,433 (GRCm39)	M43T	probably benign	Het
Polr1a	G	A	6: 71,954,331 (GRCm39)	R1595H	possibly damaging	Het
Pramel29	C	T	4: 143,935,000 (GRCm39)	S247N	probably benign	Het
Rusc1	T	C	3: 88,999,077 (GRCm39)	D235G	probably damaging	Het
Serpinb6e	A	T	13: 34,020,463 (GRCm39)	I215N	probably damaging	Het
Sfrp4	A	T	13: 19,816,377 (GRCm39)	Q137L	probably benign	Het
Spata31g1	T	C	4: 42,970,975 (GRCm39)	Y67H	probably benign	Het
Vmn2r2	C	T	3: 64,024,544 (GRCm39)	W679*	probably null	Het
Zfp709	A	T	8: 72,642,870 (GRCm39)	T99S	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
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
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

Posted On

2016-08-02