Incidental Mutation 'R1420:Vps50'
| ID |
160036 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vps50
|
| Ensembl Gene |
ENSMUSG00000001376 |
| Gene Name |
VPS50 EARP/GARPII complex subunit |
| Synonyms |
Ccdc132, 1700034M03Rik, 8430415E05Rik |
| MMRRC Submission |
039476-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.890)
|
| Stock # |
R1420 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
3498393-3603531 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 3588007 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 660
(L660*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128323
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001412]
[ENSMUST00000164052]
[ENSMUST00000170873]
|
| AlphaFold |
Q8CI71 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000001412
AA Change: L660*
|
| SMART Domains |
Protein: ENSMUSP00000001412
Gene: ENSMUSG00000001376
AA Change: L660*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2450
|
54 |
345 |
2.5e-112 |
PFAM |
|
low complexity region
|
659 |
676 |
N/A |
INTRINSIC |
|
Pfam:DUF2451
|
723 |
957 |
2.2e-98 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000164052
AA Change: L660*
|
| SMART Domains |
Protein: ENSMUSP00000125872
Gene: ENSMUSG00000001376
AA Change: L660*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2450
|
54 |
345 |
5.2e-111 |
PFAM |
|
low complexity region
|
659 |
676 |
N/A |
INTRINSIC |
|
Pfam:DUF2451
|
723 |
929 |
1.1e-90 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000170873
AA Change: L660*
|
| SMART Domains |
Protein: ENSMUSP00000128323
Gene: ENSMUSG00000001376
AA Change: L660*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2450
|
54 |
345 |
5.3e-111 |
PFAM |
|
low complexity region
|
659 |
676 |
N/A |
INTRINSIC |
|
Pfam:DUF2451
|
723 |
933 |
2.6e-90 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183532
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184461
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184959
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202850
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.6%
- 20x: 90.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l2 |
A |
G |
10: 83,331,799 (GRCm39) |
Y669H |
probably damaging |
Het |
| Amotl2 |
A |
T |
9: 102,601,982 (GRCm39) |
M409L |
possibly damaging |
Het |
| Ankrd35 |
A |
G |
3: 96,592,054 (GRCm39) |
E780G |
probably benign |
Het |
| Brwd1 |
T |
C |
16: 95,837,234 (GRCm39) |
Y866C |
probably damaging |
Het |
| Cul4b |
G |
C |
X: 37,653,918 (GRCm39) |
|
probably null |
Het |
| Daw1 |
A |
T |
1: 83,137,548 (GRCm39) |
Y10F |
possibly damaging |
Het |
| Dgki |
A |
T |
6: 37,027,204 (GRCm39) |
|
probably null |
Het |
| Dnah3 |
A |
T |
7: 119,551,202 (GRCm39) |
V3039E |
probably damaging |
Het |
| Ercc4 |
C |
T |
16: 12,948,073 (GRCm39) |
T340I |
probably benign |
Het |
| Fam83b |
T |
C |
9: 76,399,894 (GRCm39) |
N403S |
possibly damaging |
Het |
| Fbh1 |
A |
G |
2: 11,772,493 (GRCm39) |
F63L |
probably benign |
Het |
| Foxm1 |
G |
A |
6: 128,349,884 (GRCm39) |
R395H |
possibly damaging |
Het |
| Gtpbp4 |
C |
T |
13: 9,023,298 (GRCm39) |
A589T |
probably benign |
Het |
| Ifna7 |
C |
A |
4: 88,734,906 (GRCm39) |
H148N |
probably damaging |
Het |
| Il23r |
T |
C |
6: 67,463,181 (GRCm39) |
Y104C |
probably damaging |
Het |
| Il31ra |
A |
T |
13: 112,668,286 (GRCm39) |
W347R |
probably damaging |
Het |
| Ints7 |
T |
G |
1: 191,345,169 (GRCm39) |
F620V |
possibly damaging |
Het |
| Iqcd |
T |
C |
5: 120,738,860 (GRCm39) |
L226P |
probably damaging |
Het |
| Jak3 |
G |
T |
8: 72,134,182 (GRCm39) |
R428L |
possibly damaging |
Het |
| Kif28 |
C |
A |
1: 179,529,962 (GRCm39) |
C733F |
probably damaging |
Het |
| Klkb1 |
C |
A |
8: 45,729,183 (GRCm39) |
C347F |
probably damaging |
Het |
| Ksr2 |
A |
G |
5: 117,552,904 (GRCm39) |
E4G |
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,097,942 (GRCm39) |
L1774P |
probably damaging |
Het |
| Lrriq3 |
A |
G |
3: 154,893,349 (GRCm39) |
E350G |
probably benign |
Het |
| Nav3 |
G |
A |
10: 109,659,115 (GRCm39) |
A834V |
probably benign |
Het |
| Ncoa6 |
G |
A |
2: 155,263,073 (GRCm39) |
Q454* |
probably null |
Het |
| Nfatc2 |
C |
A |
2: 168,346,585 (GRCm39) |
M836I |
probably benign |
Het |
| Nphp3 |
G |
T |
9: 103,913,092 (GRCm39) |
|
probably null |
Het |
| Olfml2b |
C |
T |
1: 170,496,596 (GRCm39) |
T409M |
probably benign |
Het |
| Oprk1 |
A |
G |
1: 5,672,544 (GRCm39) |
K227R |
probably damaging |
Het |
| Or8g35 |
A |
T |
9: 39,381,289 (GRCm39) |
H244Q |
probably damaging |
Het |
| Pate1 |
A |
T |
9: 35,596,505 (GRCm39) |
W87R |
probably damaging |
Het |
| Pcnx4 |
T |
C |
12: 72,602,760 (GRCm39) |
Y341H |
probably benign |
Het |
| Pde4c |
T |
A |
8: 71,201,066 (GRCm39) |
H421Q |
probably damaging |
Het |
| Pglyrp4 |
T |
C |
3: 90,636,021 (GRCm39) |
V82A |
probably damaging |
Het |
| Pnmt |
G |
T |
11: 98,278,502 (GRCm39) |
R156L |
probably benign |
Het |
| Prdm9 |
C |
A |
17: 15,764,638 (GRCm39) |
C714F |
probably damaging |
Het |
| Pwp1 |
T |
C |
10: 85,712,402 (GRCm39) |
V80A |
probably damaging |
Het |
| Pxdn |
T |
C |
12: 30,052,067 (GRCm39) |
L568P |
probably damaging |
Het |
| Rasgrp4 |
C |
A |
7: 28,839,770 (GRCm39) |
Q161K |
probably damaging |
Het |
| Rnf138 |
A |
G |
18: 21,159,159 (GRCm39) |
E193G |
probably damaging |
Het |
| Slc16a6 |
A |
G |
11: 109,345,772 (GRCm39) |
V413A |
probably damaging |
Het |
| Slc7a15 |
T |
C |
12: 8,584,442 (GRCm39) |
T363A |
probably benign |
Het |
| Sufu |
T |
C |
19: 46,385,623 (GRCm39) |
S28P |
probably benign |
Het |
| Tex19.1 |
T |
C |
11: 121,037,872 (GRCm39) |
S77P |
probably damaging |
Het |
| Tmc7 |
A |
T |
7: 118,165,440 (GRCm39) |
Y91* |
probably null |
Het |
| Ttbk2 |
C |
G |
2: 120,576,393 (GRCm39) |
R792S |
probably benign |
Het |
| Tyw1 |
T |
C |
5: 130,303,586 (GRCm39) |
|
probably null |
Het |
| U2surp |
A |
G |
9: 95,344,856 (GRCm39) |
S907P |
probably benign |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
| Wdr55 |
A |
G |
18: 36,893,392 (GRCm39) |
E18G |
probably benign |
Het |
| Wipi1 |
A |
G |
11: 109,469,198 (GRCm39) |
V331A |
probably benign |
Het |
|
| Other mutations in Vps50 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00338:Vps50
|
APN |
6 |
3,602,670 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00764:Vps50
|
APN |
6 |
3,532,177 (GRCm39) |
nonsense |
probably null |
|
|
IGL00844:Vps50
|
APN |
6 |
3,532,177 (GRCm39) |
nonsense |
probably null |
|
|
IGL00845:Vps50
|
APN |
6 |
3,532,177 (GRCm39) |
nonsense |
probably null |
|
|
IGL00850:Vps50
|
APN |
6 |
3,532,177 (GRCm39) |
nonsense |
probably null |
|
|
IGL01417:Vps50
|
APN |
6 |
3,522,377 (GRCm39) |
splice site |
probably benign |
|
|
IGL01648:Vps50
|
APN |
6 |
3,498,545 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL03238:Vps50
|
APN |
6 |
3,594,771 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL03285:Vps50
|
APN |
6 |
3,555,011 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0309:Vps50
|
UTSW |
6 |
3,536,853 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0513:Vps50
|
UTSW |
6 |
3,520,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0714:Vps50
|
UTSW |
6 |
3,571,105 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1066:Vps50
|
UTSW |
6 |
3,533,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1210:Vps50
|
UTSW |
6 |
3,594,884 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1437:Vps50
|
UTSW |
6 |
3,517,852 (GRCm39) |
nonsense |
probably null |
|
|
R1451:Vps50
|
UTSW |
6 |
3,565,628 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1470:Vps50
|
UTSW |
6 |
3,517,777 (GRCm39) |
splice site |
probably benign |
|
|
R1576:Vps50
|
UTSW |
6 |
3,545,568 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1599:Vps50
|
UTSW |
6 |
3,565,537 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1860:Vps50
|
UTSW |
6 |
3,520,279 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2055:Vps50
|
UTSW |
6 |
3,522,265 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2109:Vps50
|
UTSW |
6 |
3,555,379 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3408:Vps50
|
UTSW |
6 |
3,600,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3732:Vps50
|
UTSW |
6 |
3,519,243 (GRCm39) |
synonymous |
silent |
|
|
R3764:Vps50
|
UTSW |
6 |
3,588,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3828:Vps50
|
UTSW |
6 |
3,533,500 (GRCm39) |
missense |
probably benign |
|
|
R4092:Vps50
|
UTSW |
6 |
3,551,037 (GRCm39) |
missense |
probably benign |
|
|
R4385:Vps50
|
UTSW |
6 |
3,516,694 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4588:Vps50
|
UTSW |
6 |
3,562,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4843:Vps50
|
UTSW |
6 |
3,536,974 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4978:Vps50
|
UTSW |
6 |
3,517,808 (GRCm39) |
missense |
probably benign |
|
|
R5368:Vps50
|
UTSW |
6 |
3,567,739 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5867:Vps50
|
UTSW |
6 |
3,536,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6591:Vps50
|
UTSW |
6 |
3,504,939 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6626:Vps50
|
UTSW |
6 |
3,551,101 (GRCm39) |
nonsense |
probably null |
|
|
R6691:Vps50
|
UTSW |
6 |
3,504,939 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6707:Vps50
|
UTSW |
6 |
3,545,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6751:Vps50
|
UTSW |
6 |
3,600,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6773:Vps50
|
UTSW |
6 |
3,592,560 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6867:Vps50
|
UTSW |
6 |
3,517,835 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6883:Vps50
|
UTSW |
6 |
3,498,513 (GRCm39) |
unclassified |
probably benign |
|
|
R6963:Vps50
|
UTSW |
6 |
3,592,577 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7147:Vps50
|
UTSW |
6 |
3,567,750 (GRCm39) |
nonsense |
probably null |
|
|
R7150:Vps50
|
UTSW |
6 |
3,578,854 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7167:Vps50
|
UTSW |
6 |
3,600,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7235:Vps50
|
UTSW |
6 |
3,588,078 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7385:Vps50
|
UTSW |
6 |
3,602,708 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7662:Vps50
|
UTSW |
6 |
3,562,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7782:Vps50
|
UTSW |
6 |
3,532,202 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8188:Vps50
|
UTSW |
6 |
3,562,297 (GRCm39) |
nonsense |
probably null |
|
|
R8232:Vps50
|
UTSW |
6 |
3,600,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8535:Vps50
|
UTSW |
6 |
3,565,612 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8808:Vps50
|
UTSW |
6 |
3,522,338 (GRCm39) |
nonsense |
probably null |
|
|
R8845:Vps50
|
UTSW |
6 |
3,504,926 (GRCm39) |
missense |
probably benign |
|
|
R8889:Vps50
|
UTSW |
6 |
3,536,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8892:Vps50
|
UTSW |
6 |
3,536,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8911:Vps50
|
UTSW |
6 |
3,516,710 (GRCm39) |
missense |
probably benign |
|
|
R9089:Vps50
|
UTSW |
6 |
3,536,884 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9116:Vps50
|
UTSW |
6 |
3,588,091 (GRCm39) |
splice site |
probably benign |
|
|
R9381:Vps50
|
UTSW |
6 |
3,592,433 (GRCm39) |
missense |
probably benign |
|
|
R9440:Vps50
|
UTSW |
6 |
3,516,724 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9485:Vps50
|
UTSW |
6 |
3,592,557 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9585:Vps50
|
UTSW |
6 |
3,600,348 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9645:Vps50
|
UTSW |
6 |
3,516,706 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9761:Vps50
|
UTSW |
6 |
3,519,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9796:Vps50
|
UTSW |
6 |
3,562,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Vps50
|
UTSW |
6 |
3,571,012 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0062:Vps50
|
UTSW |
6 |
3,594,833 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Vps50
|
UTSW |
6 |
3,578,792 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1177:Vps50
|
UTSW |
6 |
3,562,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Vps50
|
UTSW |
6 |
3,555,367 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTTGCCCTGACCTTCAAGGACTC -3'
(R):5'- ACACTTTCTGAACACAGATCTTCAGTGG -3'
Sequencing Primer
(F):5'- atggtgatgatggtggtgg -3'
(R):5'- CTTGATATAACTAAAGGGCTCAGAC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation