Mutagenetix > Incidental Mutation

Incidental Mutation 'R5963:Vps8'

471901

Institutional Source

Beutler Lab

Gene Symbol

Vps8

Ensembl Gene

ENSMUSG00000033653

Gene Name

VPS8 CORVET complex subunit

Synonyms

MMRRC Submission

044148-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5963 (G1)

Quality Score

181

Status

Validated

Chromosome

Chromosomal Location

21423118-21644680 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21470121 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 408 (I408T)

Ref Sequence

ENSEMBL: ENSMUSP00000112937 (fasta)

Gene Model

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

AlphaFold

Q0P5W1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096191
AA Change: I408T

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000093905
Gene: ENSMUSG00000033653
AA Change: I408T

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: I410T

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000093906
Gene: ENSMUSG00000033653
AA Change: I410T

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: I410T

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000111055
Gene: ENSMUSG00000033653
AA Change: I410T

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: I408T

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112937
Gene: ENSMUSG00000033653
AA Change: I408T

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 benign
Transcript: ENSMUST00000118923
AA Change: I410T

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000112636
Gene: ENSMUSG00000033653
AA Change: I410T

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

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

Meta Mutation Damage Score

0.2941

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.5%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg8	A	G	7: 97,379,830 (GRCm38)	K131E	probably benign	Het
Ank3	T	A	10: 69,987,226 (GRCm38)	L575*	probably null	Het
Aqr	T	C	2: 114,126,961 (GRCm38)	T819A	probably damaging	Het
Bbs2	A	T	8: 94,081,031 (GRCm38)	S407T	probably benign	Het
Bmper	T	A	9: 23,375,593 (GRCm38)	C272S	probably benign	Het
Btbd9	C	T	17: 30,334,218 (GRCm38)		probably null	Het
C5ar1	A	G	7: 16,248,822 (GRCm38)	V91A	possibly damaging	Het
Ccdc138	A	G	10: 58,575,757 (GRCm38)	H649R	possibly damaging	Het
Cfap43	A	T	19: 47,745,574 (GRCm38)	V1451E	probably benign	Het
Cfap46	T	A	7: 139,651,595 (GRCm38)	M901L	probably damaging	Het
Cherp	G	T	8: 72,461,535 (GRCm38)		probably benign	Het
D430041D05Rik	C	T	2: 104,248,285 (GRCm38)	V1229I	possibly damaging	Het
Fat4	A	C	3: 39,010,547 (GRCm38)	D4884A	probably damaging	Het
Fcrl5	T	C	3: 87,444,173 (GRCm38)	F243L	probably damaging	Het
Garem1	T	A	18: 21,129,430 (GRCm38)	I776F	probably benign	Het
Gpr87	T	A	3: 59,179,269 (GRCm38)	R272*	probably null	Het
Gsdmc	A	T	15: 63,780,116 (GRCm38)		probably null	Het
Hydin	T	A	8: 110,494,294 (GRCm38)	F1441I	possibly damaging	Het
Ints11	T	A	4: 155,872,912 (GRCm38)	C63*	probably null	Het
Kdm4b	A	T	17: 56,399,732 (GRCm38)	T908S	probably damaging	Het
Lipn	A	G	19: 34,081,300 (GRCm38)	D304G	probably damaging	Het
Man2a1	T	G	17: 64,675,122 (GRCm38)	N544K	probably benign	Het
Mapkapk5	G	T	5: 121,538,481 (GRCm38)	H66N	probably damaging	Het
Mog	G	A	17: 37,012,348 (GRCm38)	R233*	probably null	Het
Mrps24	A	T	11: 5,707,481 (GRCm38)		probably benign	Het
Nom1	T	C	5: 29,437,770 (GRCm38)	L423P	probably damaging	Het
Or51b6	T	A	7: 103,906,961 (GRCm38)	V174E	probably benign	Het
Pcdha1	T	A	18: 36,931,171 (GRCm38)	V296E	probably damaging	Het
Pdcd2	T	C	17: 15,526,394 (GRCm38)	K168E	possibly damaging	Het
Pdcd2	G	T	17: 15,526,395 (GRCm38)	H167Q	probably damaging	Het
Pla2g12b	T	A	10: 59,403,958 (GRCm38)	V63D	probably damaging	Het
Pnn	C	T	12: 59,067,831 (GRCm38)	R56*	probably null	Het
Primpol	T	A	8: 46,593,580 (GRCm38)	E227V	possibly damaging	Het
Rad54l	A	T	4: 116,110,387 (GRCm38)	W233R	probably damaging	Het
Rims2	A	T	15: 39,437,182 (GRCm38)	D103V	probably damaging	Het
Rttn	T	C	18: 89,073,695 (GRCm38)	S1511P	probably benign	Het
Septin5	T	C	16: 18,624,212 (GRCm38)		probably null	Het
Simc1	T	A	13: 54,525,819 (GRCm38)	I660K	possibly damaging	Het
Slc15a5	A	G	6: 138,079,693 (GRCm38)	L75P	probably damaging	Het
Slc9a2	A	G	1: 40,682,036 (GRCm38)	S55G	possibly damaging	Het
Slit3	C	T	11: 35,700,236 (GRCm38)	R1292C	probably damaging	Het
Slitrk3	A	G	3: 73,050,713 (GRCm38)	V242A	probably benign	Het
St14	A	T	9: 31,106,557 (GRCm38)		probably benign	Het
Tnnt2	T	C	1: 135,843,862 (GRCm38)		probably benign	Het
Traf5	G	A	1: 192,000,016 (GRCm38)	T288I	probably benign	Het
Trerf1	C	T	17: 47,314,337 (GRCm38)		noncoding transcript	Het
Vegfc	A	G	8: 54,181,284 (GRCm38)	N333D	probably benign	Het
Vmn1r65	T	A	7: 6,008,609 (GRCm38)	I209F	probably damaging	Het
Vps51	A	G	19: 6,068,290 (GRCm38)	L725P	probably damaging	Het
Wdr72	T	C	9: 74,145,028 (GRCm38)	Y114H	probably damaging	Het
Ybx2	A	G	11: 69,941,092 (GRCm38)	E164G	probably damaging	Het
Zcchc14	A	T	8: 121,628,623 (GRCm38)		probably benign	Het
Zfp383	A	G	7: 29,915,678 (GRCm38)	T453A	possibly damaging	Het
Zfp84	G	T	7: 29,776,953 (GRCm38)	G357C	probably damaging	Het
Zmynd11	G	T	13: 9,695,895 (GRCm38)		probably benign	Het

Other mutations in Vps8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00500:Vps8	APN	16	21,442,334 (GRCm38)	missense	possibly damaging	0.47
IGL00596:Vps8	APN	16	21,448,412 (GRCm38)	splice site	probably benign
IGL00985:Vps8	APN	16	21,477,584 (GRCm38)	splice site	probably benign
IGL01356:Vps8	APN	16	21,517,357 (GRCm38)	critical splice donor site	probably null
IGL01375:Vps8	APN	16	21,559,372 (GRCm38)	nonsense	probably null
IGL01643:Vps8	APN	16	21,518,222 (GRCm38)	missense	possibly damaging	0.92
IGL02159:Vps8	APN	16	21,466,484 (GRCm38)	missense	possibly damaging	0.69
IGL02214:Vps8	APN	16	21,517,285 (GRCm38)	missense	probably damaging	1.00
IGL02465:Vps8	APN	16	21,521,903 (GRCm38)	missense	probably damaging	1.00
IGL02651:Vps8	APN	16	21,517,336 (GRCm38)	missense	probably damaging	0.99
IGL03174:Vps8	APN	16	21,466,463 (GRCm38)	missense	probably damaging	1.00
IGL03337:Vps8	APN	16	21,563,168 (GRCm38)	missense	probably benign
IGL03383:Vps8	APN	16	21,435,823 (GRCm38)	critical splice donor site	probably null
IGL03402:Vps8	APN	16	21,448,398 (GRCm38)	missense	possibly damaging	0.68
empires	UTSW	16	21,581,548 (GRCm38)	nonsense	probably null
porky	UTSW	16	21,461,238 (GRCm38)	missense	probably benign	0.32
realm	UTSW	16	21,545,236 (GRCm38)	intron	probably benign
realms	UTSW	16	21,444,188 (GRCm38)	splice site	probably null
Reich	UTSW	16	21,478,439 (GRCm38)	missense	probably benign	0.29
reichen	UTSW	16	21,506,825 (GRCm38)	splice site	probably benign
IGL03052:Vps8	UTSW	16	21,448,365 (GRCm38)	missense	probably damaging	0.99
PIT4677001:Vps8	UTSW	16	21,500,334 (GRCm38)	missense	possibly damaging	0.94
R0066:Vps8	UTSW	16	21,477,523 (GRCm38)	missense	possibly damaging	0.77
R0066:Vps8	UTSW	16	21,477,523 (GRCm38)	missense	possibly damaging	0.77
R0125:Vps8	UTSW	16	21,470,154 (GRCm38)	missense	probably benign	0.00
R0137:Vps8	UTSW	16	21,504,386 (GRCm38)	splice site	probably benign
R0362:Vps8	UTSW	16	21,608,227 (GRCm38)	intron	probably benign
R0384:Vps8	UTSW	16	21,506,825 (GRCm38)	splice site	probably benign
R0492:Vps8	UTSW	16	21,442,357 (GRCm38)	missense	probably damaging	1.00
R0525:Vps8	UTSW	16	21,540,109 (GRCm38)	critical splice donor site	probably null
R0531:Vps8	UTSW	16	21,459,811 (GRCm38)	intron	probably benign
R0605:Vps8	UTSW	16	21,559,337 (GRCm38)	missense	probably benign	0.00
R0636:Vps8	UTSW	16	21,434,933 (GRCm38)	missense	probably benign	0.32
R0707:Vps8	UTSW	16	21,442,357 (GRCm38)	missense	probably damaging	1.00
R0840:Vps8	UTSW	16	21,456,321 (GRCm38)	missense	probably damaging	0.99
R1170:Vps8	UTSW	16	21,459,820 (GRCm38)	intron	probably benign
R1203:Vps8	UTSW	16	21,511,557 (GRCm38)	missense	probably damaging	1.00
R1482:Vps8	UTSW	16	21,581,598 (GRCm38)	missense	probably benign	0.00
R1531:Vps8	UTSW	16	21,466,476 (GRCm38)	nonsense	probably null
R1642:Vps8	UTSW	16	21,581,579 (GRCm38)	missense	probably benign
R1956:Vps8	UTSW	16	21,461,142 (GRCm38)	missense	probably damaging	1.00
R2201:Vps8	UTSW	16	21,576,757 (GRCm38)	missense	probably damaging	1.00
R2287:Vps8	UTSW	16	21,568,413 (GRCm38)	missense	probably damaging	1.00
R2423:Vps8	UTSW	16	21,559,337 (GRCm38)	missense	probably benign	0.00
R3151:Vps8	UTSW	16	21,442,373 (GRCm38)	missense	probably benign	0.04
R3943:Vps8	UTSW	16	21,470,123 (GRCm38)	missense	probably damaging	1.00
R3944:Vps8	UTSW	16	21,470,123 (GRCm38)	missense	probably damaging	1.00
R4043:Vps8	UTSW	16	21,526,396 (GRCm38)	missense	probably damaging	1.00
R4302:Vps8	UTSW	16	21,495,914 (GRCm38)	missense	probably damaging	1.00
R4398:Vps8	UTSW	16	21,504,466 (GRCm38)	missense	probably damaging	1.00
R4477:Vps8	UTSW	16	21,545,236 (GRCm38)	intron	probably benign
R4478:Vps8	UTSW	16	21,545,236 (GRCm38)	intron	probably benign
R4479:Vps8	UTSW	16	21,545,236 (GRCm38)	intron	probably benign
R4480:Vps8	UTSW	16	21,545,236 (GRCm38)	intron	probably benign
R4571:Vps8	UTSW	16	21,435,775 (GRCm38)	missense	probably damaging	1.00
R4653:Vps8	UTSW	16	21,500,210 (GRCm38)	missense	probably damaging	1.00
R4664:Vps8	UTSW	16	21,444,188 (GRCm38)	splice site	probably null
R4713:Vps8	UTSW	16	21,442,439 (GRCm38)	missense	probably damaging	1.00
R4726:Vps8	UTSW	16	21,448,404 (GRCm38)	splice site	probably null
R4959:Vps8	UTSW	16	21,459,786 (GRCm38)	missense	probably damaging	1.00
R4973:Vps8	UTSW	16	21,459,786 (GRCm38)	missense	probably damaging	1.00
R4975:Vps8	UTSW	16	21,466,469 (GRCm38)	missense	probably damaging	1.00
R4992:Vps8	UTSW	16	21,461,408 (GRCm38)	missense	possibly damaging	0.52
R5144:Vps8	UTSW	16	21,559,353 (GRCm38)	missense	probably damaging	1.00
R5168:Vps8	UTSW	16	21,533,099 (GRCm38)	missense	probably benign	0.05
R5168:Vps8	UTSW	16	21,457,445 (GRCm38)	missense	probably damaging	0.99
R5222:Vps8	UTSW	16	21,581,548 (GRCm38)	nonsense	probably null
R5231:Vps8	UTSW	16	21,576,725 (GRCm38)	missense	probably damaging	1.00
R5876:Vps8	UTSW	16	21,461,439 (GRCm38)	critical splice donor site	probably null
R6010:Vps8	UTSW	16	21,545,205 (GRCm38)	intron	probably benign
R6023:Vps8	UTSW	16	21,461,238 (GRCm38)	missense	probably benign	0.32
R6173:Vps8	UTSW	16	21,495,932 (GRCm38)	splice site	probably null
R6185:Vps8	UTSW	16	21,470,141 (GRCm38)	missense	probably damaging	0.98
R6264:Vps8	UTSW	16	21,559,349 (GRCm38)	nonsense	probably null
R6409:Vps8	UTSW	16	21,478,439 (GRCm38)	missense	probably benign	0.29
R6522:Vps8	UTSW	16	21,442,379 (GRCm38)	missense	probably damaging	0.99
R6528:Vps8	UTSW	16	21,554,125 (GRCm38)	nonsense	probably null
R6784:Vps8	UTSW	16	21,563,207 (GRCm38)	missense	probably benign	0.01
R7040:Vps8	UTSW	16	21,575,022 (GRCm38)	missense	probably damaging	1.00
R7072:Vps8	UTSW	16	21,581,579 (GRCm38)	missense	probably benign
R7103:Vps8	UTSW	16	21,526,441 (GRCm38)	missense	probably damaging	1.00
R7149:Vps8	UTSW	16	21,459,776 (GRCm38)	missense	probably damaging	1.00
R7195:Vps8	UTSW	16	21,456,282 (GRCm38)	missense	probably damaging	1.00
R7206:Vps8	UTSW	16	21,457,421 (GRCm38)	missense	probably damaging	1.00
R7403:Vps8	UTSW	16	21,434,972 (GRCm38)	missense	possibly damaging	0.78
R7782:Vps8	UTSW	16	21,511,558 (GRCm38)	missense	possibly damaging	0.89
R7806:Vps8	UTSW	16	21,459,751 (GRCm38)	missense	probably damaging	1.00
R7846:Vps8	UTSW	16	21,532,320 (GRCm38)	missense	probably benign	0.01
R7943:Vps8	UTSW	16	21,477,872 (GRCm38)	missense	possibly damaging	0.66
R8075:Vps8	UTSW	16	21,521,894 (GRCm38)	missense	probably damaging	0.99
R8190:Vps8	UTSW	16	21,575,030 (GRCm38)	missense	possibly damaging	0.73
R8307:Vps8	UTSW	16	21,495,902 (GRCm38)	missense	probably benign	0.02
R8483:Vps8	UTSW	16	21,575,013 (GRCm38)	missense	probably damaging	0.98
R8814:Vps8	UTSW	16	21,576,650 (GRCm38)	missense	probably damaging	1.00
R9064:Vps8	UTSW	16	21,470,229 (GRCm38)	missense	probably damaging	1.00
R9367:Vps8	UTSW	16	21,521,918 (GRCm38)	missense	possibly damaging	0.45
R9404:Vps8	UTSW	16	21,608,177 (GRCm38)	missense	probably benign	0.12
R9544:Vps8	UTSW	16	21,518,143 (GRCm38)	missense	probably benign	0.00
R9570:Vps8	UTSW	16	21,644,203 (GRCm38)	missense	probably benign	0.10
R9634:Vps8	UTSW	16	21,554,143 (GRCm38)	missense	probably damaging	1.00
R9702:Vps8	UTSW	16	21,644,133 (GRCm38)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- GCCTTCCCTTATGCAAGCAG -3'
(R):5'- ACTGTGGGGAGATCAATGC -3'

Sequencing Primer
(F):5'- CCTTATGCAAGCAGAGTGTCATCTG -3'
(R):5'- GGTGTGGTGGCACTCAC -3'

Posted On

2017-03-31