Incidental Mutation 'R7662:Vps50'
ID |
591625 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vps50
|
Ensembl Gene |
ENSMUSG00000001376 |
Gene Name |
VPS50 EARP/GARPII complex subunit |
Synonyms |
Ccdc132, 1700034M03Rik, 8430415E05Rik |
MMRRC Submission |
045737-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.890)
|
Stock # |
R7662 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
3498393-3603531 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 3562304 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 466
(N466K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001412
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001412]
[ENSMUST00000164052]
[ENSMUST00000170873]
|
AlphaFold |
Q8CI71 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000001412
AA Change: N466K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000001412 Gene: ENSMUSG00000001376 AA Change: N466K
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 damaging
Transcript: ENSMUST00000164052
AA Change: N466K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125872 Gene: ENSMUSG00000001376 AA Change: N466K
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 damaging
Transcript: ENSMUST00000170873
AA Change: N466K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128323 Gene: ENSMUSG00000001376 AA Change: N466K
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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
100% (82/82) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563M21Rik |
G |
A |
9: 55,885,999 (GRCm39) |
S48L |
probably benign |
Het |
Abi3bp |
A |
G |
16: 56,437,686 (GRCm39) |
|
probably null |
Het |
Adss1 |
T |
A |
12: 112,606,172 (GRCm39) |
V456E |
probably damaging |
Het |
Aimp1 |
A |
T |
3: 132,379,827 (GRCm39) |
V105E |
probably benign |
Het |
Ankrd6 |
G |
A |
4: 32,818,694 (GRCm39) |
R270C |
probably damaging |
Het |
Arid5b |
C |
T |
10: 67,934,417 (GRCm39) |
G495E |
probably benign |
Het |
Armh1 |
C |
A |
4: 117,070,938 (GRCm39) |
A396S |
probably benign |
Het |
Asb15 |
T |
A |
6: 24,566,089 (GRCm39) |
D347E |
probably benign |
Het |
Axin2 |
T |
A |
11: 108,833,282 (GRCm39) |
L489Q |
possibly damaging |
Het |
Baiap2l1 |
G |
A |
5: 144,294,700 (GRCm39) |
|
probably benign |
Het |
Cdc6 |
T |
A |
11: 98,801,438 (GRCm39) |
N194K |
possibly damaging |
Het |
Cdc6 |
T |
C |
11: 98,807,836 (GRCm39) |
L443P |
probably benign |
Het |
Celf2 |
C |
A |
2: 6,558,728 (GRCm39) |
G393C |
probably damaging |
Het |
Cep290 |
T |
A |
10: 100,373,665 (GRCm39) |
M1315K |
probably benign |
Het |
Cilk1 |
G |
C |
9: 78,074,902 (GRCm39) |
V586L |
probably benign |
Het |
Cntn5 |
A |
T |
9: 9,661,390 (GRCm39) |
M887K |
probably benign |
Het |
Col17a1 |
T |
C |
19: 47,669,940 (GRCm39) |
I71V |
probably benign |
Het |
Crot |
T |
C |
5: 9,019,072 (GRCm39) |
M494V |
probably damaging |
Het |
Ctnna2 |
A |
T |
6: 77,613,852 (GRCm39) |
V246D |
probably damaging |
Het |
Cyb5r4 |
A |
G |
9: 86,909,091 (GRCm39) |
E56G |
possibly damaging |
Het |
Dennd2a |
A |
G |
6: 39,470,037 (GRCm39) |
Y552H |
probably benign |
Het |
Dennd4a |
A |
G |
9: 64,759,713 (GRCm39) |
I273V |
probably damaging |
Het |
Dkk2 |
A |
G |
3: 131,883,629 (GRCm39) |
|
probably null |
Het |
Dnaja2 |
A |
C |
8: 86,265,905 (GRCm39) |
D393E |
probably benign |
Het |
Dscc1 |
T |
A |
15: 54,939,561 (GRCm39) |
I461F |
possibly damaging |
Het |
Dspp |
A |
T |
5: 104,325,736 (GRCm39) |
S700C |
unknown |
Het |
Ect2 |
T |
A |
3: 27,185,947 (GRCm39) |
H512L |
probably damaging |
Het |
Eif1b |
A |
G |
9: 120,323,277 (GRCm39) |
T46A |
possibly damaging |
Het |
Fam114a2 |
A |
T |
11: 57,398,391 (GRCm39) |
D182E |
probably damaging |
Het |
Fez1 |
C |
A |
9: 36,781,796 (GRCm39) |
P347H |
probably damaging |
Het |
Fgd5 |
G |
A |
6: 92,026,912 (GRCm39) |
|
probably null |
Het |
Flad1 |
T |
A |
3: 89,310,758 (GRCm39) |
I430F |
probably damaging |
Het |
Gal3st2b |
T |
C |
1: 93,868,614 (GRCm39) |
Y282H |
probably damaging |
Het |
Gm29106 |
T |
A |
1: 118,127,137 (GRCm39) |
N276K |
possibly damaging |
Het |
Gm36176 |
C |
A |
10: 77,682,686 (GRCm39) |
S16Y |
unknown |
Het |
Gm5624 |
T |
C |
14: 44,799,390 (GRCm39) |
R56G |
possibly damaging |
Het |
Gpatch11 |
A |
C |
17: 79,146,484 (GRCm39) |
Q43P |
probably benign |
Het |
Gtpbp2 |
A |
G |
17: 46,477,361 (GRCm39) |
T409A |
probably benign |
Het |
Hmcn2 |
T |
C |
2: 31,272,357 (GRCm39) |
I1279T |
probably benign |
Het |
Itih3 |
T |
A |
14: 30,639,287 (GRCm39) |
N429Y |
probably benign |
Het |
Lrp5 |
A |
G |
19: 3,736,353 (GRCm39) |
|
probably null |
Het |
Lrrc34 |
T |
A |
3: 30,697,452 (GRCm39) |
Y93F |
probably benign |
Het |
Lypd9 |
T |
C |
11: 58,338,269 (GRCm39) |
N41S |
probably benign |
Het |
Malrd1 |
T |
A |
2: 15,876,265 (GRCm39) |
V1404D |
unknown |
Het |
Med1 |
T |
C |
11: 98,046,218 (GRCm39) |
N1526S |
unknown |
Het |
Myt1l |
A |
G |
12: 29,876,868 (GRCm39) |
D173G |
unknown |
Het |
Nckap1l |
A |
T |
15: 103,371,012 (GRCm39) |
H197L |
probably damaging |
Het |
Nipa1 |
T |
C |
7: 55,629,372 (GRCm39) |
E247G |
probably damaging |
Het |
Nmrk1 |
A |
T |
19: 18,619,542 (GRCm39) |
R132* |
probably null |
Het |
Nrap |
G |
T |
19: 56,308,715 (GRCm39) |
A1700E |
probably benign |
Het |
Odr4 |
T |
C |
1: 150,258,045 (GRCm39) |
S197G |
probably benign |
Het |
Or13p8 |
T |
A |
4: 118,583,504 (GRCm39) |
F20Y |
probably damaging |
Het |
Or8g32 |
A |
T |
9: 39,305,389 (GRCm39) |
M98L |
probably benign |
Het |
Padi6 |
T |
C |
4: 140,456,306 (GRCm39) |
T563A |
probably benign |
Het |
Pcdhb19 |
G |
A |
18: 37,631,788 (GRCm39) |
E528K |
probably damaging |
Het |
Pcnt |
T |
C |
10: 76,223,356 (GRCm39) |
D1942G |
probably benign |
Het |
Pcnx2 |
C |
T |
8: 126,545,510 (GRCm39) |
W1167* |
probably null |
Het |
Pkp3 |
C |
T |
7: 140,658,292 (GRCm39) |
T19I |
probably benign |
Het |
Plekhg5 |
T |
C |
4: 152,188,755 (GRCm39) |
L199P |
probably damaging |
Het |
Rasal1 |
A |
G |
5: 120,800,249 (GRCm39) |
T171A |
probably benign |
Het |
Rgsl1 |
T |
C |
1: 153,701,225 (GRCm39) |
I410V |
probably benign |
Het |
Scart2 |
T |
C |
7: 139,874,725 (GRCm39) |
V401A |
possibly damaging |
Het |
Sftpa1 |
C |
A |
14: 40,856,169 (GRCm39) |
N171K |
probably damaging |
Het |
Slc5a9 |
A |
T |
4: 111,734,737 (GRCm39) |
*686R |
probably null |
Het |
Smap1 |
A |
T |
1: 23,916,855 (GRCm39) |
N91K |
probably damaging |
Het |
Tenm3 |
A |
G |
8: 48,788,762 (GRCm39) |
S695P |
probably benign |
Het |
Thoc3 |
A |
T |
13: 54,611,617 (GRCm39) |
H223Q |
probably damaging |
Het |
Tmco4 |
T |
C |
4: 138,737,872 (GRCm39) |
F156L |
probably benign |
Het |
Tmem30a |
C |
T |
9: 79,682,513 (GRCm39) |
V188I |
probably benign |
Het |
Trim27 |
T |
A |
13: 21,376,328 (GRCm39) |
C359S |
probably benign |
Het |
Trrap |
A |
G |
5: 144,769,321 (GRCm39) |
T2609A |
probably benign |
Het |
Ttn |
A |
G |
2: 76,692,744 (GRCm39) |
V446A |
|
Het |
Vat1l |
T |
A |
8: 115,009,084 (GRCm39) |
Y273N |
probably damaging |
Het |
Vmn1r129 |
T |
A |
7: 21,094,552 (GRCm39) |
H222L |
possibly damaging |
Het |
Vmn2r19 |
A |
G |
6: 123,308,521 (GRCm39) |
T533A |
probably benign |
Het |
Vmn2r77 |
T |
A |
7: 86,460,492 (GRCm39) |
L606* |
probably null |
Het |
Vmn2r93 |
G |
T |
17: 18,525,631 (GRCm39) |
V430L |
probably benign |
Het |
Zfp507 |
A |
T |
7: 35,487,229 (GRCm39) |
Y746* |
probably null |
Het |
Zfp521 |
A |
C |
18: 13,977,173 (GRCm39) |
L1080R |
probably damaging |
Het |
Zfp74 |
A |
G |
7: 29,653,278 (GRCm39) |
|
probably null |
Het |
Zfp831 |
G |
A |
2: 174,487,934 (GRCm39) |
A870T |
possibly damaging |
Het |
Zfp936 |
A |
T |
7: 42,839,336 (GRCm39) |
K268* |
probably null |
Het |
Zhx2 |
C |
A |
15: 57,685,572 (GRCm39) |
R314S |
probably damaging |
Het |
Zkscan16 |
A |
T |
4: 58,957,679 (GRCm39) |
K654* |
probably null |
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 |
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'- AGCTAACAGAAGCCAGCGTG -3'
(R):5'- GTGGATAATTCCTACAAAAGGGC -3'
Sequencing Primer
(F):5'- CTAACAGAAGCCAGCGTGTGTAG -3'
(R):5'- TTCCTACAAAAGGGCCTGCTAGG -3'
|
Posted On |
2019-11-12 |