Mutagenetix > Incidental Mutation

Incidental Mutation 'R7943:Vps8'

649189

Institutional Source

Beutler Lab

Gene Symbol

Vps8

Ensembl Gene

ENSMUSG00000033653

Gene Name

VPS8 CORVET complex subunit

Synonyms

MMRRC Submission

045989-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7943 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21241868-21463430 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21296622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 540 (K540R)

Ref Sequence

ENSEMBL: ENSMUSP00000093905 (fasta)

Gene Model

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

AlphaFold

Q0P5W1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096191
AA Change: K540R

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000093905
Gene: ENSMUSG00000033653
AA Change: K540R

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: K542R

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000093906
Gene: ENSMUSG00000033653
AA Change: K542R

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: K542R

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000111055
Gene: ENSMUSG00000033653
AA Change: K542R

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

possibly damaging
Transcript: ENSMUST00000117598
AA Change: K540R

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112937
Gene: ENSMUSG00000033653
AA Change: K540R

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

possibly damaging
Transcript: ENSMUST00000118923
AA Change: K542R

PolyPhen 2 Score 0.713 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112636
Gene: ENSMUSG00000033653
AA Change: K542R

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: ENSMUST00000125487
AA Change: K110R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000114719
Gene: ENSMUSG00000033653
AA Change: K110R

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: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	C	T	5: 8,736,222 (GRCm39)	T205I	probably benign	Het
Acsbg1	T	C	9: 54,530,021 (GRCm39)	H225R	probably damaging	Het
Anks1	T	A	17: 28,204,178 (GRCm39)	Y209N	probably damaging	Het
Appl1	T	A	14: 26,667,525 (GRCm39)	I377L	probably benign	Het
Arl9	A	T	5: 77,158,395 (GRCm39)	D159V	probably damaging	Het
Arsa	A	C	15: 89,358,292 (GRCm39)	L339R	probably damaging	Het
C2	A	G	17: 35,091,354 (GRCm39)	L380P	probably damaging	Het
Ccdc13	A	G	9: 121,628,196 (GRCm39)	C97R	unknown	Het
Ccdc74a	A	G	16: 17,468,416 (GRCm39)	H346R	probably benign	Het
Ccnl1	T	C	3: 65,864,326 (GRCm39)	I152V	probably benign	Het
Cd4	C	T	6: 124,847,207 (GRCm39)		probably null	Het
Ceacam5	A	T	7: 17,479,491 (GRCm39)	I203L	probably benign	Het
Ckap2	C	A	8: 22,665,090 (GRCm39)	R458L	probably damaging	Het
Cldn10	T	C	14: 119,099,271 (GRCm39)		probably null	Het
Col27a1	C	T	4: 63,236,520 (GRCm39)	R1377C	unknown	Het
Cry1	A	T	10: 84,978,984 (GRCm39)	M514K	probably benign	Het
Crybg2	T	G	4: 133,800,295 (GRCm39)	V176G	probably damaging	Het
Cyp2j5	C	T	4: 96,547,849 (GRCm39)	G131D	possibly damaging	Het
Ddx46	A	G	13: 55,817,535 (GRCm39)	Y720C	probably damaging	Het
Dock10	A	T	1: 80,626,006 (GRCm39)	V44D	probably damaging	Het
Eif1ad8	C	T	12: 87,563,773 (GRCm39)	A36V	probably damaging	Het
Enam	A	T	5: 88,636,410 (GRCm39)		probably null	Het
Fam184a	C	A	10: 53,509,802 (GRCm39)	E126*	probably null	Het
Fam184a	C	T	10: 53,523,137 (GRCm39)	A956T	probably damaging	Het
Fbxw10	A	T	11: 62,741,487 (GRCm39)	R202*	probably null	Het
Fnip1	A	G	11: 54,393,214 (GRCm39)	E550G	probably damaging	Het
Gpr149	A	G	3: 62,438,132 (GRCm39)	L675P	probably damaging	Het
Hivep3	T	C	4: 119,989,554 (GRCm39)	Y2002H	probably benign	Het
Hp	A	G	8: 110,302,187 (GRCm39)	Y254H	probably damaging	Het
Ighg1	G	T	12: 113,293,957 (GRCm39)	T62N		Het
Jcad	A	G	18: 4,672,700 (GRCm39)	E154G	probably damaging	Het
Kmt2a	A	G	9: 44,760,437 (GRCm39)	S471P	probably damaging	Het
Med13	A	G	11: 86,169,352 (GRCm39)	V1968A	probably damaging	Het
Mknk2	T	A	10: 80,511,701 (GRCm39)	Q3L	probably benign	Het
Nup98	G	A	7: 101,844,029 (GRCm39)	T65I	probably benign	Het
Or10p21	T	A	10: 128,847,934 (GRCm39)	M260K	possibly damaging	Het
Or51f1e	G	A	7: 102,747,153 (GRCm39)	M68I	probably damaging	Het
Or5m11	A	G	2: 85,782,342 (GRCm39)	T312A	probably benign	Het
Or9i14	A	T	19: 13,792,600 (GRCm39)	M118K	probably damaging	Het
Pcdhgb4	C	T	18: 37,855,063 (GRCm39)	T486I	probably benign	Het
Perm1	T	A	4: 156,302,991 (GRCm39)	F512I	probably damaging	Het
Pgap3	A	T	11: 98,281,227 (GRCm39)	L262Q	probably damaging	Het
Pklr	A	C	3: 89,048,814 (GRCm39)	Y126S	probably damaging	Het
Ppl	C	T	16: 4,906,725 (GRCm39)	R1190H	probably damaging	Het
Ppm1k	T	C	6: 57,501,813 (GRCm39)	T117A	probably benign	Het
Prkd2	G	A	7: 16,584,244 (GRCm39)	E366K	probably benign	Het
Psd	C	A	19: 46,313,169 (GRCm39)	C67F	possibly damaging	Het
Ptpra	T	A	2: 30,322,056 (GRCm39)	F100L	probably damaging	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rock1	T	C	18: 10,112,357 (GRCm39)	E466G	probably damaging	Het
Sec16b	A	T	1: 157,382,327 (GRCm39)	M588L	probably benign	Het
Serpina1f	T	A	12: 103,659,949 (GRCm39)	H111L	probably damaging	Het
Sf3a1	T	C	11: 4,116,537 (GRCm39)	I76T	possibly damaging	Het
Shcbp1	A	T	8: 4,798,812 (GRCm39)	L369Q	possibly damaging	Het
Spef2	A	G	15: 9,601,171 (GRCm39)	M1697T	unknown	Het
St7	G	A	6: 17,844,911 (GRCm39)	C133Y	probably damaging	Het
Tdpoz6	A	T	3: 93,600,070 (GRCm39)	C100S	probably benign	Het
Tex19.1	T	A	11: 121,037,986 (GRCm39)	W115R	possibly damaging	Het
Tfrc	T	A	16: 32,449,039 (GRCm39)	I726N	probably benign	Het
Thbs1	A	G	2: 117,950,098 (GRCm39)		probably null	Het
Trim43a	C	T	9: 88,464,238 (GRCm39)	P50S	probably benign	Het
Trpm4	A	T	7: 44,958,105 (GRCm39)	V935E	probably damaging	Het
Ttc12	A	T	9: 49,381,620 (GRCm39)	V117D	possibly damaging	Het
Ulbp1	T	C	10: 7,407,053 (GRCm39)	T82A	probably damaging	Het
Usp13	C	T	3: 32,931,089 (GRCm39)	H288Y	probably damaging	Het
Vmn2r82	A	G	10: 79,232,079 (GRCm39)	K693E	possibly damaging	Het
Vmn2r90	A	G	17: 17,932,566 (GRCm39)	T158A	probably damaging	Het
Zfp143	T	A	7: 109,671,681 (GRCm39)		probably null	Het
Zfp709	G	T	8: 72,643,933 (GRCm39)	C454F	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
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
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'- TTCTCGATGAGAACAGACGGG -3'
(R):5'- TTTCACGGGTGAGGGCAATG -3'

Sequencing Primer
(F):5'- GCACACTGATAAGCTGTTAGGC -3'
(R):5'- TGAGGGCAATGGTGAGACC -3'

Posted On

2020-09-15