Incidental Mutation 'R4479:Vps8'
ID |
331412 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vps8
|
Ensembl Gene |
ENSMUSG00000033653 |
Gene Name |
VPS8 CORVET complex subunit |
Synonyms |
|
MMRRC Submission |
041736-MU
|
Accession Numbers |
|
Is this an essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4479 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
21423118-21644680 bp(+) (GRCm38) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to T
at 21545236 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114139
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096191]
[ENSMUST00000096192]
[ENSMUST00000115397]
[ENSMUST00000117598]
[ENSMUST00000118138]
[ENSMUST00000118923]
[ENSMUST00000122235]
[ENSMUST00000156580]
|
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 benign
Transcript: ENSMUST00000096192
|
SMART Domains |
Protein: ENSMUSP00000093906 Gene: ENSMUSG00000033653
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
|
SMART Domains |
Protein: ENSMUSP00000111055 Gene: ENSMUSG00000033653
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 benign
Transcript: ENSMUST00000117598
|
SMART Domains |
Protein: ENSMUSP00000112937 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 |
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 benign
Transcript: ENSMUST00000118923
|
SMART Domains |
Protein: ENSMUSP00000112636 Gene: ENSMUSG00000033653
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 |
unknown
Transcript: ENSMUST00000122235
AA Change: D411V
|
SMART Domains |
Protein: ENSMUSP00000112622 Gene: ENSMUSG00000033653 AA Change: D411V
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156580
|
Predicted Effect |
unknown
Transcript: ENSMUST00000232357
AA Change: D84V
|
Meta Mutation Damage Score |
0.0898  |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
Validation Efficiency |
95% (36/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
T |
C |
7: 46,005,239 |
T553A |
possibly damaging |
Het |
Adamts20 |
C |
T |
15: 94,403,445 |
R66H |
probably damaging |
Het |
Anks1b |
A |
G |
10: 90,049,892 |
E150G |
probably damaging |
Het |
Chp2 |
A |
G |
7: 122,220,918 |
D97G |
probably benign |
Het |
Cnbd2 |
T |
C |
2: 156,333,653 |
|
probably benign |
Het |
D130040H23Rik |
C |
A |
8: 69,302,503 |
H187N |
possibly damaging |
Het |
Dusp15 |
A |
G |
2: 152,944,182 |
L135P |
probably damaging |
Het |
Eif4g1 |
G |
T |
16: 20,678,843 |
|
probably benign |
Het |
Erlin2 |
G |
T |
8: 27,025,099 |
V10L |
probably benign |
Het |
F830104G03Rik |
A |
G |
3: 56,890,213 |
S98P |
unknown |
Het |
Fat3 |
G |
A |
9: 15,998,271 |
S2145F |
probably damaging |
Het |
Gm3159 |
T |
C |
14: 4,398,584 |
Y92H |
probably damaging |
Het |
Ighv1-22 |
G |
T |
12: 114,746,663 |
A15E |
possibly damaging |
Het |
Ints4 |
T |
C |
7: 97,484,971 |
S37P |
probably damaging |
Het |
Irs1 |
G |
A |
1: 82,287,294 |
T1067I |
probably damaging |
Het |
Lrrc28 |
C |
T |
7: 67,531,614 |
|
probably null |
Het |
Olfr1243 |
A |
G |
2: 89,528,170 |
I80T |
possibly damaging |
Het |
Olfr1420 |
A |
G |
19: 11,896,558 |
Y179C |
probably damaging |
Het |
Olfr206 |
G |
A |
16: 59,344,867 |
T278I |
probably damaging |
Het |
Psg18 |
C |
T |
7: 18,350,862 |
S103N |
probably benign |
Het |
Psma3 |
T |
C |
12: 70,984,781 |
|
probably benign |
Het |
Slc7a11 |
T |
C |
3: 50,417,963 |
|
probably benign |
Het |
Tas2r115 |
T |
C |
6: 132,737,532 |
D152G |
probably damaging |
Het |
Tti1 |
A |
T |
2: 158,008,395 |
L308Q |
possibly damaging |
Het |
Unc93b1 |
G |
A |
19: 3,935,236 |
A15T |
probably benign |
Het |
Usp43 |
G |
A |
11: 67,856,407 |
R820C |
possibly damaging |
Het |
Vmn2r68 |
TCC |
TC |
7: 85,221,550 |
|
probably null |
Het |
Wdr73 |
T |
C |
7: 80,893,221 |
E213G |
probably benign |
Het |
Zfp286 |
C |
G |
11: 62,780,204 |
G348R |
probably damaging |
Het |
Zkscan5 |
T |
C |
5: 145,211,174 |
|
probably benign |
Het |
|
Other mutations in Vps8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00500:Vps8
|
APN |
16 |
21442334 |
missense |
possibly damaging |
0.47 |
IGL00596:Vps8
|
APN |
16 |
21448412 |
splice site |
probably benign |
|
IGL00985:Vps8
|
APN |
16 |
21477584 |
splice site |
probably benign |
|
IGL01356:Vps8
|
APN |
16 |
21517357 |
critical splice donor site |
probably null |
|
IGL01375:Vps8
|
APN |
16 |
21559372 |
nonsense |
probably null |
|
IGL01643:Vps8
|
APN |
16 |
21518222 |
missense |
possibly damaging |
0.92 |
IGL02159:Vps8
|
APN |
16 |
21466484 |
missense |
possibly damaging |
0.69 |
IGL02214:Vps8
|
APN |
16 |
21517285 |
missense |
probably damaging |
1.00 |
IGL02465:Vps8
|
APN |
16 |
21521903 |
missense |
probably damaging |
1.00 |
IGL02651:Vps8
|
APN |
16 |
21517336 |
missense |
probably damaging |
0.99 |
IGL03174:Vps8
|
APN |
16 |
21466463 |
missense |
probably damaging |
1.00 |
IGL03337:Vps8
|
APN |
16 |
21563168 |
missense |
probably benign |
|
IGL03383:Vps8
|
APN |
16 |
21435823 |
critical splice donor site |
probably null |
|
IGL03402:Vps8
|
APN |
16 |
21448398 |
missense |
possibly damaging |
0.68 |
empires
|
UTSW |
16 |
21581548 |
nonsense |
probably null |
|
porky
|
UTSW |
16 |
21461238 |
missense |
probably benign |
0.32 |
realm
|
UTSW |
16 |
21545236 |
intron |
probably benign |
|
realms
|
UTSW |
16 |
21444188 |
splice site |
probably null |
|
Reich
|
UTSW |
16 |
21478439 |
missense |
probably benign |
0.29 |
reichen
|
UTSW |
16 |
21506825 |
splice site |
probably benign |
|
IGL03052:Vps8
|
UTSW |
16 |
21448365 |
missense |
probably damaging |
0.99 |
PIT4677001:Vps8
|
UTSW |
16 |
21500334 |
missense |
possibly damaging |
0.94 |
R0066:Vps8
|
UTSW |
16 |
21477523 |
missense |
possibly damaging |
0.77 |
R0066:Vps8
|
UTSW |
16 |
21477523 |
missense |
possibly damaging |
0.77 |
R0125:Vps8
|
UTSW |
16 |
21470154 |
missense |
probably benign |
0.00 |
R0137:Vps8
|
UTSW |
16 |
21504386 |
splice site |
probably benign |
|
R0362:Vps8
|
UTSW |
16 |
21608227 |
intron |
probably benign |
|
R0384:Vps8
|
UTSW |
16 |
21506825 |
splice site |
probably benign |
|
R0492:Vps8
|
UTSW |
16 |
21442357 |
missense |
probably damaging |
1.00 |
R0525:Vps8
|
UTSW |
16 |
21540109 |
critical splice donor site |
probably null |
|
R0531:Vps8
|
UTSW |
16 |
21459811 |
intron |
probably benign |
|
R0605:Vps8
|
UTSW |
16 |
21559337 |
missense |
probably benign |
0.00 |
R0636:Vps8
|
UTSW |
16 |
21434933 |
missense |
probably benign |
0.32 |
R0707:Vps8
|
UTSW |
16 |
21442357 |
missense |
probably damaging |
1.00 |
R0840:Vps8
|
UTSW |
16 |
21456321 |
missense |
probably damaging |
0.99 |
R1170:Vps8
|
UTSW |
16 |
21459820 |
intron |
probably benign |
|
R1203:Vps8
|
UTSW |
16 |
21511557 |
missense |
probably damaging |
1.00 |
R1482:Vps8
|
UTSW |
16 |
21581598 |
missense |
probably benign |
0.00 |
R1531:Vps8
|
UTSW |
16 |
21466476 |
nonsense |
probably null |
|
R1642:Vps8
|
UTSW |
16 |
21581579 |
missense |
probably benign |
|
R1956:Vps8
|
UTSW |
16 |
21461142 |
missense |
probably damaging |
1.00 |
R2201:Vps8
|
UTSW |
16 |
21576757 |
missense |
probably damaging |
1.00 |
R2287:Vps8
|
UTSW |
16 |
21568413 |
missense |
probably damaging |
1.00 |
R2423:Vps8
|
UTSW |
16 |
21559337 |
missense |
probably benign |
0.00 |
R3151:Vps8
|
UTSW |
16 |
21442373 |
missense |
probably benign |
0.04 |
R3943:Vps8
|
UTSW |
16 |
21470123 |
missense |
probably damaging |
1.00 |
R3944:Vps8
|
UTSW |
16 |
21470123 |
missense |
probably damaging |
1.00 |
R4043:Vps8
|
UTSW |
16 |
21526396 |
missense |
probably damaging |
1.00 |
R4302:Vps8
|
UTSW |
16 |
21495914 |
missense |
probably damaging |
1.00 |
R4398:Vps8
|
UTSW |
16 |
21504466 |
missense |
probably damaging |
1.00 |
R4477:Vps8
|
UTSW |
16 |
21545236 |
intron |
probably benign |
|
R4478:Vps8
|
UTSW |
16 |
21545236 |
intron |
probably benign |
|
R4480:Vps8
|
UTSW |
16 |
21545236 |
intron |
probably benign |
|
R4571:Vps8
|
UTSW |
16 |
21435775 |
missense |
probably damaging |
1.00 |
R4653:Vps8
|
UTSW |
16 |
21500210 |
missense |
probably damaging |
1.00 |
R4664:Vps8
|
UTSW |
16 |
21444188 |
splice site |
probably null |
|
R4713:Vps8
|
UTSW |
16 |
21442439 |
missense |
probably damaging |
1.00 |
R4726:Vps8
|
UTSW |
16 |
21448404 |
splice site |
probably null |
|
R4959:Vps8
|
UTSW |
16 |
21459786 |
missense |
probably damaging |
1.00 |
R4973:Vps8
|
UTSW |
16 |
21459786 |
missense |
probably damaging |
1.00 |
R4975:Vps8
|
UTSW |
16 |
21466469 |
missense |
probably damaging |
1.00 |
R4992:Vps8
|
UTSW |
16 |
21461408 |
missense |
possibly damaging |
0.52 |
R5144:Vps8
|
UTSW |
16 |
21559353 |
missense |
probably damaging |
1.00 |
R5168:Vps8
|
UTSW |
16 |
21457445 |
missense |
probably damaging |
0.99 |
R5168:Vps8
|
UTSW |
16 |
21533099 |
missense |
probably benign |
0.05 |
R5222:Vps8
|
UTSW |
16 |
21581548 |
nonsense |
probably null |
|
R5231:Vps8
|
UTSW |
16 |
21576725 |
missense |
probably damaging |
1.00 |
R5876:Vps8
|
UTSW |
16 |
21461439 |
critical splice donor site |
probably null |
|
R5963:Vps8
|
UTSW |
16 |
21470121 |
missense |
possibly damaging |
0.48 |
R6010:Vps8
|
UTSW |
16 |
21545205 |
intron |
probably benign |
|
R6023:Vps8
|
UTSW |
16 |
21461238 |
missense |
probably benign |
0.32 |
R6173:Vps8
|
UTSW |
16 |
21495932 |
splice site |
probably null |
|
R6185:Vps8
|
UTSW |
16 |
21470141 |
missense |
probably damaging |
0.98 |
R6264:Vps8
|
UTSW |
16 |
21559349 |
nonsense |
probably null |
|
R6409:Vps8
|
UTSW |
16 |
21478439 |
missense |
probably benign |
0.29 |
R6522:Vps8
|
UTSW |
16 |
21442379 |
missense |
probably damaging |
0.99 |
R6528:Vps8
|
UTSW |
16 |
21554125 |
nonsense |
probably null |
|
R6784:Vps8
|
UTSW |
16 |
21563207 |
missense |
probably benign |
0.01 |
R7040:Vps8
|
UTSW |
16 |
21575022 |
missense |
probably damaging |
1.00 |
R7072:Vps8
|
UTSW |
16 |
21581579 |
missense |
probably benign |
|
R7103:Vps8
|
UTSW |
16 |
21526441 |
missense |
probably damaging |
1.00 |
R7149:Vps8
|
UTSW |
16 |
21459776 |
missense |
probably damaging |
1.00 |
R7195:Vps8
|
UTSW |
16 |
21456282 |
missense |
probably damaging |
1.00 |
R7206:Vps8
|
UTSW |
16 |
21457421 |
missense |
probably damaging |
1.00 |
R7403:Vps8
|
UTSW |
16 |
21434972 |
missense |
possibly damaging |
0.78 |
R7782:Vps8
|
UTSW |
16 |
21511558 |
missense |
possibly damaging |
0.89 |
R7806:Vps8
|
UTSW |
16 |
21459751 |
missense |
probably damaging |
1.00 |
R7846:Vps8
|
UTSW |
16 |
21532320 |
missense |
probably benign |
0.01 |
R7943:Vps8
|
UTSW |
16 |
21477872 |
missense |
possibly damaging |
0.66 |
R8075:Vps8
|
UTSW |
16 |
21521894 |
missense |
probably damaging |
0.99 |
R8190:Vps8
|
UTSW |
16 |
21575030 |
missense |
possibly damaging |
0.73 |
R8307:Vps8
|
UTSW |
16 |
21495902 |
missense |
probably benign |
0.02 |
R8483:Vps8
|
UTSW |
16 |
21575013 |
missense |
probably damaging |
0.98 |
R8814:Vps8
|
UTSW |
16 |
21576650 |
missense |
probably damaging |
1.00 |
R9064:Vps8
|
UTSW |
16 |
21470229 |
missense |
probably damaging |
1.00 |
R9367:Vps8
|
UTSW |
16 |
21521918 |
missense |
possibly damaging |
0.45 |
R9404:Vps8
|
UTSW |
16 |
21608177 |
missense |
probably benign |
0.12 |
R9544:Vps8
|
UTSW |
16 |
21518143 |
missense |
probably benign |
0.00 |
R9570:Vps8
|
UTSW |
16 |
21644203 |
missense |
not run |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACTTGAGATCCCTCTTCTTATGAAC -3'
(R):5'- TGGATGTGACAGGACAGCTG -3'
Sequencing Primer
(F):5'- CGCATACAATGTGTTTTTGTCATATC -3'
(R):5'- ATGTGACAGGACAGCTGCTCTC -3'
|
Posted On |
2015-07-21 |