Incidental Mutation 'R9585:Vps50'
| ID |
722746 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vps50
|
| Ensembl Gene |
ENSMUSG00000001376 |
| Gene Name |
VPS50 EARP/GARPII complex subunit |
| Synonyms |
Ccdc132, 1700034M03Rik, 8430415E05Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.890)
|
| Stock # |
R9585 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
3498393-3603531 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 3600348 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 936
(S936T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128323
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001412]
[ENSMUST00000164052]
[ENSMUST00000170873]
|
| AlphaFold |
Q8CI71 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001412
|
| SMART Domains |
Protein: ENSMUSP00000001412
Gene: ENSMUSG00000001376
| 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 benign
Transcript: ENSMUST00000164052
|
| SMART Domains |
Protein: ENSMUSP00000125872
Gene: ENSMUSG00000001376
| 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 benign
Transcript: ENSMUST00000170873
AA Change: S936T
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000128323
Gene: ENSMUSG00000001376
AA Change: S936T
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
A |
3: 124,199,993 (GRCm39) |
D533V |
possibly damaging |
Het |
| 4933411K16Rik |
A |
G |
19: 42,041,352 (GRCm39) |
E161G |
probably benign |
Het |
| Abca12 |
A |
G |
1: 71,342,745 (GRCm39) |
S912P |
probably damaging |
Het |
| Abca3 |
G |
A |
17: 24,619,486 (GRCm39) |
M1196I |
probably benign |
Het |
| Adprs |
A |
T |
4: 126,211,786 (GRCm39) |
D175E |
probably benign |
Het |
| Asrgl1 |
A |
G |
19: 9,090,398 (GRCm39) |
L316P |
probably benign |
Het |
| Avl9 |
T |
A |
6: 56,734,299 (GRCm39) |
M626K |
probably damaging |
Het |
| Birc6 |
A |
G |
17: 74,916,265 (GRCm39) |
N1727S |
probably damaging |
Het |
| Casp14 |
G |
A |
10: 78,549,194 (GRCm39) |
R251W |
probably damaging |
Het |
| Cfap69 |
A |
G |
5: 5,631,269 (GRCm39) |
I919T |
possibly damaging |
Het |
| Cibar2 |
T |
C |
8: 120,901,450 (GRCm39) |
E85G |
probably null |
Het |
| Cps1 |
T |
A |
1: 67,195,341 (GRCm39) |
M254K |
probably damaging |
Het |
| Ctc1 |
A |
G |
11: 68,925,490 (GRCm39) |
E1009G |
probably damaging |
Het |
| Ddx25 |
A |
T |
9: 35,455,009 (GRCm39) |
Y426* |
probably null |
Het |
| Dok3 |
A |
G |
13: 55,672,057 (GRCm39) |
F207S |
probably damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Fcrla |
A |
T |
1: 170,749,868 (GRCm39) |
M1K |
probably null |
Het |
| Heatr4 |
A |
T |
12: 84,014,472 (GRCm39) |
S588R |
probably damaging |
Het |
| Iglv3 |
A |
G |
16: 19,059,960 (GRCm39) |
*123Q |
probably null |
Het |
| Igsf9b |
T |
C |
9: 27,233,532 (GRCm39) |
I344T |
probably damaging |
Het |
| Il18 |
T |
C |
9: 50,490,661 (GRCm39) |
S99P |
probably damaging |
Het |
| Krt36 |
G |
A |
11: 99,994,892 (GRCm39) |
L227F |
probably damaging |
Het |
| Lrriq1 |
A |
G |
10: 103,051,250 (GRCm39) |
S501P |
probably benign |
Het |
| Lvrn |
T |
C |
18: 47,011,411 (GRCm39) |
|
probably null |
Het |
| Myo18a |
T |
A |
11: 77,709,495 (GRCm39) |
M535K |
probably benign |
Het |
| Myocd |
T |
A |
11: 65,095,192 (GRCm39) |
S158C |
probably damaging |
Het |
| Naip6 |
A |
T |
13: 100,436,577 (GRCm39) |
C649S |
probably damaging |
Het |
| Oasl2 |
T |
C |
5: 115,035,901 (GRCm39) |
V59A |
probably damaging |
Het |
| Obscn |
C |
A |
11: 58,965,831 (GRCm39) |
V2942F |
probably benign |
Het |
| Or10a49 |
T |
A |
7: 108,467,552 (GRCm39) |
T270S |
probably benign |
Het |
| Or5l14 |
T |
A |
2: 87,792,919 (GRCm39) |
T106S |
probably benign |
Het |
| Osbpl6 |
A |
G |
2: 76,354,438 (GRCm39) |
T18A |
probably benign |
Het |
| Pcf11 |
A |
T |
7: 92,311,006 (GRCm39) |
D327E |
probably benign |
Het |
| Per3 |
G |
T |
4: 151,097,138 (GRCm39) |
Q796K |
probably benign |
Het |
| Pex5l |
T |
C |
3: 33,060,091 (GRCm39) |
T227A |
probably benign |
Het |
| Phf11b |
G |
T |
14: 59,568,704 (GRCm39) |
P70T |
probably benign |
Het |
| Pkd1l1 |
T |
G |
11: 8,804,390 (GRCm39) |
I2184L |
|
Het |
| Polr3a |
A |
T |
14: 24,502,289 (GRCm39) |
M1288K |
probably damaging |
Het |
| Pth1r |
T |
A |
9: 110,573,847 (GRCm39) |
R3S |
probably benign |
Het |
| Ptprk |
C |
A |
10: 28,369,147 (GRCm39) |
Y706* |
probably null |
Het |
| Rmi2 |
C |
T |
16: 10,703,983 (GRCm39) |
T108I |
probably benign |
Het |
| Rrbp1 |
T |
C |
2: 143,799,479 (GRCm39) |
N1076S |
probably benign |
Het |
| Setd3 |
A |
C |
12: 108,074,814 (GRCm39) |
|
probably null |
Het |
| Slc4a1 |
A |
G |
11: 102,247,915 (GRCm39) |
Y360H |
probably benign |
Het |
| Sox21 |
A |
G |
14: 118,472,993 (GRCm39) |
S19P |
possibly damaging |
Het |
| Speer4a2 |
T |
C |
5: 26,291,542 (GRCm39) |
H88R |
possibly damaging |
Het |
| Stx18 |
T |
A |
5: 38,249,916 (GRCm39) |
N76K |
possibly damaging |
Het |
| Sv2c |
T |
C |
13: 96,122,466 (GRCm39) |
T437A |
probably benign |
Het |
| Trrap |
G |
A |
5: 144,777,330 (GRCm39) |
V3043M |
probably damaging |
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 |
|
R1420:Vps50
|
UTSW |
6 |
3,588,007 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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'- GGCGTGCCTTGATGCAATTG -3'
(R):5'- TACAGCTAGTGAATCATCTCAGC -3'
Sequencing Primer
(F):5'- GCCTTGATGCAATTGGATTTTCAAC -3'
(R):5'- AGCTAGTGAATCATCTCAGCCTTAC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation