Mutagenetix > Incidental Mutation

Incidental Mutation 'R5222:Vps8'

402389

Institutional Source

Beutler Lab

Gene Symbol

Vps8

Ensembl Gene

ENSMUSG00000033653

Gene Name

VPS8 CORVET complex subunit

Synonyms

MMRRC Submission

042795-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5222 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21241868-21463430 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 21400298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 853 (Y853*)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096191] [ENSMUST00000096192] [ENSMUST00000115397] [ENSMUST00000117598] [ENSMUST00000118138] [ENSMUST00000118923]

AlphaFold

Q0P5W1

Predicted Effect

probably benign
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
AA Change: Y1255*

SMART Domains

Protein: ENSMUSP00000093906
Gene: ENSMUSG00000033653
AA Change: Y1255*

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
AA Change: Y1285*

SMART Domains

Protein: ENSMUSP00000111055
Gene: ENSMUSG00000033653
AA Change: Y1285*

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
AA Change: Y1283*

SMART Domains

Protein: ENSMUSP00000112937
Gene: ENSMUSG00000033653
AA Change: Y1283*

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

noncoding transcript
Transcript: ENSMUST00000118138

SMART Domains

Protein: ENSMUSP00000113447
Gene: ENSMUSG00000033653

Domain	Start	End	E-Value	Type
Pfam:Vps8	1	76	7.7e-21	PFAM
low complexity region	274	289	N/A	INTRINSIC
low complexity region	367	379	N/A	INTRINSIC
low complexity region	408	419	N/A	INTRINSIC
RING	539	590	1.23e-4	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000118923
AA Change: Y1255*

SMART Domains

Protein: ENSMUSP00000112636
Gene: ENSMUSG00000033653
AA Change: Y1255*

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 null
Transcript: ENSMUST00000125487
AA Change: Y853*

SMART Domains

Protein: ENSMUSP00000114719
Gene: ENSMUSG00000033653
AA Change: Y853*

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

noncoding transcript
Transcript: ENSMUST00000150765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231484

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	C	A	1: 159,872,178 (GRCm39)		noncoding transcript	Het
Acad11	G	A	9: 103,974,576 (GRCm39)	A515T	probably damaging	Het
Angpt1	T	C	15: 42,539,730 (GRCm39)	Y43C	probably damaging	Het
Arhgef33	A	G	17: 80,644,743 (GRCm39)	Y24C	probably damaging	Het
Cd40	G	C	2: 164,908,464 (GRCm39)	S180T	probably benign	Het
Cenpc1	A	T	5: 86,185,606 (GRCm39)	S302T	possibly damaging	Het
Cit	C	A	5: 116,090,602 (GRCm39)	T932K	probably benign	Het
Col19a1	A	C	1: 24,598,721 (GRCm39)		probably null	Het
Dapk3	A	G	10: 81,028,294 (GRCm39)	E288G	probably damaging	Het
Ddx60	T	C	8: 62,437,192 (GRCm39)	F1002S	probably damaging	Het
Dgke	G	T	11: 88,941,220 (GRCm39)	T321K	probably benign	Het
Ebf2	T	G	14: 67,551,043 (GRCm39)		probably benign	Het
Enpp7	A	G	11: 118,881,788 (GRCm39)	D311G	probably benign	Het
Epm2a	A	G	10: 11,324,493 (GRCm39)	E194G	probably damaging	Het
Esf1	A	G	2: 140,000,503 (GRCm39)	Y428H	possibly damaging	Het
Esyt2	T	C	12: 116,282,446 (GRCm39)	F132S	probably damaging	Het
Gm5455	T	C	13: 110,441,494 (GRCm39)		noncoding transcript	Het
Gria1	T	A	11: 57,080,623 (GRCm39)	V202E	probably benign	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Mark1	A	T	1: 184,660,288 (GRCm39)	F123I	probably damaging	Het
Nectin4	T	A	1: 171,212,825 (GRCm39)		probably null	Het
Obscn	T	A	11: 58,934,971 (GRCm39)	T5220S	possibly damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or2l13	A	C	16: 19,305,680 (GRCm39)	I31L	probably benign	Het
Or2p2	T	A	13: 21,256,739 (GRCm39)	H244L	probably damaging	Het
Pdcd1	A	T	1: 93,980,175 (GRCm39)	V14E	probably damaging	Het
Pmel	A	G	10: 128,554,853 (GRCm39)		probably null	Het
Pramel28	T	A	4: 143,691,362 (GRCm39)	I454F	possibly damaging	Het
Prrx1	C	T	1: 163,089,542 (GRCm39)	R95Q	probably damaging	Het
Pstpip2	T	A	18: 77,962,032 (GRCm39)	Y267*	probably null	Het
Ptprq	A	G	10: 107,498,425 (GRCm39)	I884T	probably damaging	Het
Rad17	G	A	13: 100,770,399 (GRCm39)	T216I	possibly damaging	Het
Rif1	T	C	2: 51,967,032 (GRCm39)	I107T	probably benign	Het
Rpp14	T	C	14: 8,087,513 (GRCm38)	L69P	probably damaging	Het
Rtel1	G	T	2: 180,988,776 (GRCm39)		probably benign	Het
Sap130	C	T	18: 31,799,756 (GRCm39)	T362M	probably damaging	Het
Scn11a	A	G	9: 119,644,268 (GRCm39)		probably null	Het
Sec31a	G	T	5: 100,530,754 (GRCm39)	T243N	probably benign	Het
Slc5a9	T	A	4: 111,755,808 (GRCm39)	H30L	possibly damaging	Het
Slco6b1	T	A	1: 96,925,216 (GRCm39)		noncoding transcript	Het
Smarca4	A	G	9: 21,567,002 (GRCm39)	D694G	probably benign	Het
Spaca6	A	G	17: 18,058,367 (GRCm39)	T213A	probably benign	Het
Tagap	C	A	17: 8,152,473 (GRCm39)	Q553K	possibly damaging	Het
Tagap	A	T	17: 8,152,474 (GRCm39)	Q553L	possibly damaging	Het
Tcf7l2	A	G	19: 55,887,044 (GRCm39)	Q19R	probably benign	Het
Ttn	A	G	2: 76,709,197 (GRCm39)		probably benign	Het
Ubr7	A	T	12: 102,741,964 (GRCm39)	R399S	probably benign	Het
Uspl1	C	A	5: 149,150,911 (GRCm39)	Q690K	possibly damaging	Het
Vrk3	A	T	7: 44,409,220 (GRCm39)	Q129L	possibly damaging	Het
Wapl	T	A	14: 34,458,642 (GRCm39)	C901*	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
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'- CAAGGCTGGATTCTTCAAGGGG -3'
(R):5'- TGGGTCCTGACGACAGATATG -3'

Sequencing Primer
(F):5'- TTCTTCAAGGGGGAGAAAAACC -3'
(R):5'- TCCTGACGACAGATATGAACGGC -3'

Posted On

2016-07-22