Mutagenetix > Incidental Mutation

Incidental Mutation 'R7040:Vps8'

547021

Institutional Source

Beutler Lab

Gene Symbol

Vps8

Ensembl Gene

ENSMUSG00000033653

Gene Name

VPS8 CORVET complex subunit

Synonyms

MMRRC Submission

045013-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7040 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21241868-21463430 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21393772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1185 (M1185K)

Ref Sequence

ENSEMBL: ENSMUSP00000112636 (fasta)

Gene Model

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

AlphaFold

Q0P5W1

Predicted Effect

probably damaging
Transcript: ENSMUST00000096191
AA Change: M1213K

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

SMART Domains

Protein: ENSMUSP00000093905
Gene: ENSMUSG00000033653
AA Change: M1213K

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: M1185K

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

SMART Domains

Protein: ENSMUSP00000093906
Gene: ENSMUSG00000033653
AA Change: M1185K

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: M1215K

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

SMART Domains

Protein: ENSMUSP00000111055
Gene: ENSMUSG00000033653
AA Change: M1215K

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: M1213K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112937
Gene: ENSMUSG00000033653
AA Change: M1213K

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: M1185K

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

SMART Domains

Protein: ENSMUSP00000112636
Gene: ENSMUSG00000033653
AA Change: M1185K

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

SMART Domains

Protein: ENSMUSP00000114719
Gene: ENSMUSG00000033653
AA Change: M783K

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	A	G	7: 127,835,897 (GRCm39)	L232P	possibly damaging	Het
Acaa1a	T	C	9: 119,178,104 (GRCm39)	V312A	probably damaging	Het
Bmp2	A	G	2: 133,403,604 (GRCm39)	D385G	probably damaging	Het
C1qtnf9	T	C	14: 61,017,241 (GRCm39)	V257A	probably damaging	Het
Cd3d	G	A	9: 44,896,991 (GRCm39)	V122I	probably damaging	Het
Cdc37	T	C	9: 21,053,519 (GRCm39)	E199G	probably damaging	Het
Crb2	T	A	2: 37,677,696 (GRCm39)	D326E	probably benign	Het
Cyp2c29	A	C	19: 39,318,781 (GRCm39)	K420N	possibly damaging	Het
Cyp2g1	A	C	7: 26,520,184 (GRCm39)	D472A	probably damaging	Het
Dab2	A	C	15: 6,451,732 (GRCm39)	H116P	probably damaging	Het
Dnah7b	G	C	1: 46,275,969 (GRCm39)	E2619Q	probably benign	Het
Dsg4	A	T	18: 20,584,909 (GRCm39)	M208L	probably benign	Het
Eif4enif1	T	G	11: 3,184,040 (GRCm39)	V521G	probably benign	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fpr-rs6	A	G	17: 20,403,196 (GRCm39)	M55T	probably damaging	Het
Grhpr	A	G	4: 44,985,362 (GRCm39)	S101G	probably damaging	Het
Kif15	T	A	9: 122,840,679 (GRCm39)	D33E	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lama4	A	G	10: 38,936,158 (GRCm39)	Q611R	possibly damaging	Het
Lrrc47	T	A	4: 154,104,909 (GRCm39)	*123R	probably null	Het
Map4k3	A	C	17: 80,988,344 (GRCm39)	V36G	probably damaging	Het
Mme	T	A	3: 63,276,344 (GRCm39)	I707N	probably damaging	Het
Muc2	A	G	7: 141,305,194 (GRCm39)	E166G	unknown	Het
Mucl1	T	A	15: 103,783,844 (GRCm39)	T108S	possibly damaging	Het
Myo1h	A	T	5: 114,497,805 (GRCm39)	D53V	possibly damaging	Het
Naa15	T	A	3: 51,380,205 (GRCm39)	L811Q	possibly damaging	Het
Nalcn	T	C	14: 123,525,267 (GRCm39)	T1487A	probably benign	Het
Nme8	A	T	13: 19,878,498 (GRCm39)	L87H	probably damaging	Het
Nr2e1	A	G	10: 42,444,374 (GRCm39)	V245A	probably damaging	Het
Nt5c2	A	T	19: 46,881,974 (GRCm39)	F291Y	possibly damaging	Het
Ooep	T	C	9: 78,285,683 (GRCm39)	N43S	possibly damaging	Het
Or10ak13	T	C	4: 118,639,183 (GRCm39)	M200V	probably benign	Het
Or4e1	T	C	14: 52,700,932 (GRCm39)	D178G	possibly damaging	Het
Or52i2	A	T	7: 102,319,937 (GRCm39)	Q270L	probably benign	Het
Or52n2c	A	T	7: 104,574,717 (GRCm39)	C85S	probably benign	Het
Ovch2	A	T	7: 107,395,772 (GRCm39)	I82N	probably damaging	Het
Palb2	A	T	7: 121,713,622 (GRCm39)	M524K	possibly damaging	Het
Patj	T	C	4: 98,329,317 (GRCm39)	S524P	probably benign	Het
Patl1	T	A	19: 11,907,318 (GRCm39)	Y401N	possibly damaging	Het
Pcdhb20	A	T	18: 37,637,770 (GRCm39)	T99S	probably benign	Het
Plcb4	G	A	2: 135,774,182 (GRCm39)	A155T	probably benign	Het
Rpap3	A	G	15: 97,576,993 (GRCm39)	V585A	possibly damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spen	T	A	4: 141,221,693 (GRCm39)	T302S	unknown	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Ube2o	T	C	11: 116,432,686 (GRCm39)	E760G	probably benign	Het
Uimc1	T	A	13: 55,223,267 (GRCm39)		probably null	Het
Usp16	C	T	16: 87,277,817 (GRCm39)	A689V	probably damaging	Het
Vmn2r60	G	A	7: 41,791,666 (GRCm39)	A530T	probably benign	Het
Vwa8	T	C	14: 79,149,645 (GRCm39)	S136P	probably damaging	Het
Ythdc2	A	G	18: 44,967,529 (GRCm39)	N175S	probably benign	Het
Zfp160	A	T	17: 21,246,794 (GRCm39)	H448L	probably damaging	Het
Zfp90	T	A	8: 107,151,641 (GRCm39)	C451*	probably null	Het
Zfp945	A	G	17: 23,071,264 (GRCm39)	C212R	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
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
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'- CCATGGCCACTGTTAGTGTG -3'
(R):5'- GGTGCATATGTATCCGAATGTACC -3'

Sequencing Primer
(F):5'- GGTTTGATGCCAACCTGAGCTAC -3'
(R):5'- TATTCAAACAGAAGGACAGG -3'

Posted On

2019-05-13