Incidental Mutation 'R1860:Vps50'
ID |
203786 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vps50
|
Ensembl Gene |
ENSMUSG00000001376 |
Gene Name |
VPS50 EARP/GARPII complex subunit |
Synonyms |
Ccdc132, 1700034M03Rik, 8430415E05Rik |
MMRRC Submission |
039883-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.902)
|
Stock # |
R1860 (G1)
|
Quality Score |
220 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
3498393-3603531 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 3520279 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001412]
[ENSMUST00000164052]
[ENSMUST00000170873]
|
AlphaFold |
Q8CI71 |
Predicted Effect |
probably null
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 null
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 null
Transcript: ENSMUST00000170873
|
SMART Domains |
Protein: ENSMUSP00000128323 Gene: ENSMUSG00000001376
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: ENSMUST00000183935
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184780
|
Predicted Effect |
probably null
Transcript: ENSMUST00000185153
|
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
A |
G |
5: 109,884,098 (GRCm39) |
C587R |
probably damaging |
Het |
Abca16 |
T |
A |
7: 120,133,986 (GRCm39) |
S1320T |
probably benign |
Het |
Abra |
C |
A |
15: 41,732,430 (GRCm39) |
R212L |
probably damaging |
Het |
Acadsb |
T |
A |
7: 131,045,958 (GRCm39) |
|
probably null |
Het |
Adam26a |
A |
G |
8: 44,022,578 (GRCm39) |
V304A |
possibly damaging |
Het |
Adgre1 |
T |
C |
17: 57,748,363 (GRCm39) |
V521A |
probably benign |
Het |
Adh5 |
G |
A |
3: 138,159,539 (GRCm39) |
V288I |
probably benign |
Het |
Astn1 |
A |
C |
1: 158,429,515 (GRCm39) |
N753T |
probably damaging |
Het |
Atad2 |
A |
T |
15: 57,960,114 (GRCm39) |
|
probably null |
Het |
Best3 |
A |
G |
10: 116,829,178 (GRCm39) |
T153A |
probably damaging |
Het |
Ccdc122 |
G |
A |
14: 77,348,847 (GRCm39) |
V226I |
probably damaging |
Het |
Ccdc175 |
T |
C |
12: 72,152,700 (GRCm39) |
Q735R |
probably benign |
Het |
Cd19 |
T |
A |
7: 126,008,813 (GRCm39) |
I499F |
probably damaging |
Het |
Cftr |
T |
A |
6: 18,268,288 (GRCm39) |
L749H |
probably benign |
Het |
Clec2h |
G |
T |
6: 128,652,790 (GRCm39) |
G186W |
probably damaging |
Het |
Cpsf3 |
T |
A |
12: 21,346,733 (GRCm39) |
I202N |
probably damaging |
Het |
Crebbp |
G |
T |
16: 3,905,600 (GRCm39) |
T1669N |
possibly damaging |
Het |
Csmd3 |
A |
T |
15: 47,522,588 (GRCm39) |
C2694S |
probably damaging |
Het |
Cul4a |
G |
A |
8: 13,173,565 (GRCm39) |
R204Q |
probably damaging |
Het |
Derl2 |
A |
G |
11: 70,909,169 (GRCm39) |
F43S |
probably damaging |
Het |
Dnah14 |
T |
A |
1: 181,591,525 (GRCm39) |
N3348K |
probably damaging |
Het |
Dnhd1 |
T |
C |
7: 105,353,412 (GRCm39) |
V2855A |
probably benign |
Het |
Dpysl4 |
G |
T |
7: 138,670,215 (GRCm39) |
C27F |
probably benign |
Het |
Fam228b |
G |
A |
12: 4,798,314 (GRCm39) |
A163V |
probably damaging |
Het |
Fscn1 |
T |
C |
5: 142,955,818 (GRCm39) |
|
probably null |
Het |
Fzd5 |
C |
A |
1: 64,774,153 (GRCm39) |
R536L |
probably damaging |
Het |
Gm8180 |
T |
A |
14: 44,021,196 (GRCm39) |
H4L |
probably benign |
Het |
Gpr176 |
T |
A |
2: 118,203,659 (GRCm39) |
N4Y |
probably damaging |
Het |
Grin3a |
T |
C |
4: 49,665,309 (GRCm39) |
I1109V |
possibly damaging |
Het |
Hcar1 |
T |
A |
5: 124,017,092 (GRCm39) |
I200F |
probably damaging |
Het |
Heatr4 |
G |
A |
12: 84,026,502 (GRCm39) |
Q252* |
probably null |
Het |
Hps1 |
G |
A |
19: 42,750,888 (GRCm39) |
H371Y |
probably damaging |
Het |
Ikzf2 |
T |
C |
1: 69,609,661 (GRCm39) |
T195A |
probably damaging |
Het |
Kdm1b |
G |
A |
13: 47,202,666 (GRCm39) |
A34T |
probably benign |
Het |
Lef1 |
A |
G |
3: 130,905,290 (GRCm39) |
N57S |
probably damaging |
Het |
Ltn1 |
A |
T |
16: 87,213,231 (GRCm39) |
D443E |
probably benign |
Het |
Macroh2a1 |
A |
G |
13: 56,231,017 (GRCm39) |
L287P |
probably damaging |
Het |
Mamdc2 |
T |
C |
19: 23,336,517 (GRCm39) |
T331A |
probably damaging |
Het |
Marchf10 |
A |
T |
11: 105,287,904 (GRCm39) |
S133T |
probably damaging |
Het |
Mb |
A |
G |
15: 76,901,784 (GRCm39) |
Y104H |
probably damaging |
Het |
Mrc1 |
C |
A |
2: 14,333,390 (GRCm39) |
P1357Q |
probably benign |
Het |
Nfib |
C |
T |
4: 82,241,917 (GRCm39) |
V425M |
probably damaging |
Het |
Or12j2 |
G |
A |
7: 139,916,132 (GRCm39) |
R119H |
possibly damaging |
Het |
Or4a27 |
T |
G |
2: 88,559,674 (GRCm39) |
I90L |
probably damaging |
Het |
Or4b1b |
C |
A |
2: 90,112,502 (GRCm39) |
C139F |
probably damaging |
Het |
Or4c127 |
G |
A |
2: 89,833,490 (GRCm39) |
V247I |
probably benign |
Het |
Or4n4 |
A |
T |
14: 50,518,848 (GRCm39) |
Y287* |
probably null |
Het |
Or52u1 |
T |
C |
7: 104,237,112 (GRCm39) |
S34P |
probably damaging |
Het |
Or5b113 |
T |
A |
19: 13,342,705 (GRCm39) |
S238T |
possibly damaging |
Het |
Or5p53 |
A |
G |
7: 107,533,597 (GRCm39) |
Y290C |
probably damaging |
Het |
Or6c208 |
T |
C |
10: 129,223,955 (GRCm39) |
F151S |
probably damaging |
Het |
Or8b51 |
A |
T |
9: 38,569,661 (GRCm39) |
V9E |
probably damaging |
Het |
Phaf1 |
A |
G |
8: 105,966,703 (GRCm39) |
E150G |
probably null |
Het |
Piezo1 |
T |
C |
8: 123,222,489 (GRCm39) |
N919S |
possibly damaging |
Het |
Prkaca |
T |
C |
8: 84,707,852 (GRCm39) |
S46P |
probably benign |
Het |
Prkcb |
T |
G |
7: 122,167,424 (GRCm39) |
V378G |
probably damaging |
Het |
Ptprf |
A |
T |
4: 118,081,129 (GRCm39) |
L576Q |
probably damaging |
Het |
Rapgef4 |
T |
C |
2: 72,065,064 (GRCm39) |
V687A |
probably benign |
Het |
Rsad2 |
C |
T |
12: 26,500,616 (GRCm39) |
V224I |
probably damaging |
Het |
Ryr1 |
A |
T |
7: 28,708,977 (GRCm39) |
D4796E |
unknown |
Het |
Scn1a |
C |
T |
2: 66,148,326 (GRCm39) |
S1073N |
probably damaging |
Het |
Slc26a3 |
A |
G |
12: 31,515,845 (GRCm39) |
M582V |
probably benign |
Het |
Tbc1d32 |
A |
T |
10: 55,999,633 (GRCm39) |
Y846* |
probably null |
Het |
Tbk1 |
A |
T |
10: 121,383,076 (GRCm39) |
M719K |
probably benign |
Het |
Timeless |
A |
G |
10: 128,081,983 (GRCm39) |
K536R |
probably benign |
Het |
Tle6 |
G |
T |
10: 81,430,163 (GRCm39) |
Q330K |
probably damaging |
Het |
Tmem208 |
A |
G |
8: 106,061,438 (GRCm39) |
K155E |
possibly damaging |
Het |
Toe1 |
T |
C |
4: 116,662,426 (GRCm39) |
Y273C |
probably damaging |
Het |
Tppp2 |
A |
C |
14: 52,158,062 (GRCm39) |
N169T |
probably benign |
Het |
Ttll6 |
T |
A |
11: 96,029,700 (GRCm39) |
Y204* |
probably null |
Het |
Ubxn11 |
G |
A |
4: 133,852,149 (GRCm39) |
S32N |
probably damaging |
Het |
Usp8 |
G |
A |
2: 126,597,960 (GRCm39) |
C961Y |
probably damaging |
Het |
Vdac3 |
A |
T |
8: 23,070,515 (GRCm39) |
I132K |
possibly damaging |
Het |
Vmn2r124 |
G |
T |
17: 18,269,759 (GRCm39) |
W5L |
probably benign |
Het |
Vmn2r71 |
A |
T |
7: 85,264,782 (GRCm39) |
D38V |
probably damaging |
Het |
Vmn2r87 |
C |
T |
10: 130,315,755 (GRCm39) |
V104I |
probably benign |
Het |
Vmn2r97 |
C |
T |
17: 19,167,648 (GRCm39) |
T634I |
probably benign |
Het |
Wwc2 |
T |
C |
8: 48,443,137 (GRCm39) |
N32S |
possibly damaging |
Het |
Ythdc2 |
T |
A |
18: 45,006,023 (GRCm39) |
I1172K |
possibly damaging |
Het |
Zfp14 |
C |
T |
7: 29,738,116 (GRCm39) |
V290M |
probably damaging |
Het |
Zfp317 |
G |
A |
9: 19,553,280 (GRCm39) |
A18T |
possibly damaging |
Het |
Zfp354b |
A |
T |
11: 50,814,369 (GRCm39) |
N185K |
probably benign |
Het |
Zscan21 |
T |
A |
5: 138,124,892 (GRCm39) |
D269E |
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 |
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 |
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'- GCCTTCAGGATTCATGGAAGC -3'
(R):5'- GTGGGTCTCACTGGTTCTTCAC -3'
Sequencing Primer
(F):5'- ATTCATGGAAGCCCCGTAGC -3'
(R):5'- CTCACTGGTTCTTCACTACAAATAG -3'
|
Posted On |
2014-06-23 |