Incidental Mutation 'R7385:Vps50'
ID |
573017 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vps50
|
Ensembl Gene |
ENSMUSG00000001376 |
Gene Name |
VPS50 EARP/GARPII complex subunit |
Synonyms |
Ccdc132, 1700034M03Rik, 8430415E05Rik |
MMRRC Submission |
045467-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.890)
|
Stock # |
R7385 (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 3602708 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 942
(S942T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001412
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001412]
[ENSMUST00000164052]
[ENSMUST00000170873]
|
AlphaFold |
Q8CI71 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001412
AA Change: S942T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000001412 Gene: ENSMUSG00000001376 AA Change: S942T
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
|
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 |
|
Meta Mutation Damage Score |
0.0971 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (75/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahctf1 |
T |
C |
1: 179,580,946 (GRCm39) |
E1752G |
possibly damaging |
Het |
Aqp3 |
T |
C |
4: 41,095,178 (GRCm39) |
T68A |
probably damaging |
Het |
Arhgap40 |
A |
G |
2: 158,385,147 (GRCm39) |
K463R |
probably damaging |
Het |
Asb10 |
A |
T |
5: 24,738,736 (GRCm39) |
C440* |
probably null |
Het |
Bach1 |
A |
G |
16: 87,526,385 (GRCm39) |
T616A |
probably damaging |
Het |
Braf |
T |
A |
6: 39,642,042 (GRCm39) |
|
probably null |
Het |
Cacna1s |
A |
T |
1: 136,020,371 (GRCm39) |
N803Y |
probably damaging |
Het |
Cald1 |
A |
G |
6: 34,663,000 (GRCm39) |
E21G |
probably damaging |
Het |
Caskin1 |
G |
T |
17: 24,722,898 (GRCm39) |
G589C |
probably damaging |
Het |
Cdc37l1 |
T |
C |
19: 28,968,071 (GRCm39) |
|
probably null |
Het |
Cntnap5b |
G |
A |
1: 100,306,815 (GRCm39) |
G844D |
probably damaging |
Het |
Col5a1 |
T |
C |
2: 27,914,762 (GRCm39) |
L1615P |
unknown |
Het |
Cpt1a |
C |
A |
19: 3,430,155 (GRCm39) |
P672T |
probably damaging |
Het |
Defb22 |
A |
G |
2: 152,328,117 (GRCm39) |
Y23H |
probably damaging |
Het |
Depdc1b |
G |
C |
13: 108,500,166 (GRCm39) |
K226N |
probably damaging |
Het |
Derl2 |
A |
G |
11: 70,909,764 (GRCm39) |
|
probably benign |
Het |
Dnaja2 |
T |
C |
8: 86,265,982 (GRCm39) |
T368A |
probably benign |
Het |
Dsg3 |
C |
A |
18: 20,673,254 (GRCm39) |
T975K |
possibly damaging |
Het |
Eif4enif1 |
T |
A |
11: 3,170,269 (GRCm39) |
D107E |
probably damaging |
Het |
Fut11 |
A |
G |
14: 20,746,325 (GRCm39) |
D389G |
probably damaging |
Het |
Gopc |
C |
T |
10: 52,225,328 (GRCm39) |
G299E |
probably damaging |
Het |
Gprin1 |
T |
C |
13: 54,886,423 (GRCm39) |
D617G |
probably benign |
Het |
Grin2d |
A |
G |
7: 45,506,960 (GRCm39) |
V505A |
probably damaging |
Het |
Heatr6 |
T |
C |
11: 83,650,161 (GRCm39) |
Y206H |
probably damaging |
Het |
Hhex |
C |
A |
19: 37,425,713 (GRCm39) |
N147K |
probably damaging |
Het |
Igkv4-80 |
G |
A |
6: 68,993,699 (GRCm39) |
S64F |
probably damaging |
Het |
Jakmip3 |
A |
G |
7: 138,625,068 (GRCm39) |
K360R |
possibly damaging |
Het |
Kat5 |
AG |
A |
19: 5,658,297 (GRCm39) |
|
probably null |
Het |
Kat5 |
T |
A |
19: 5,658,302 (GRCm39) |
N191I |
probably benign |
Het |
Kifc5b |
A |
G |
17: 27,144,597 (GRCm39) |
D572G |
probably damaging |
Het |
Lrp5 |
C |
A |
19: 3,662,197 (GRCm39) |
|
probably null |
Het |
Lrtm1 |
A |
G |
14: 28,749,673 (GRCm39) |
M345V |
probably benign |
Het |
Mbd5 |
T |
C |
2: 49,162,461 (GRCm39) |
V981A |
probably benign |
Het |
Mier3 |
G |
A |
13: 111,841,783 (GRCm39) |
G115S |
possibly damaging |
Het |
Mrgprd |
A |
G |
7: 144,875,261 (GRCm39) |
N44S |
probably damaging |
Het |
Mrps10 |
C |
A |
17: 47,689,146 (GRCm39) |
P181Q |
probably damaging |
Het |
Myot |
T |
A |
18: 44,470,075 (GRCm39) |
C17* |
probably null |
Het |
Myt1 |
A |
G |
2: 181,409,498 (GRCm39) |
|
probably null |
Het |
Ncoa6 |
C |
A |
2: 155,249,721 (GRCm39) |
L1194F |
probably damaging |
Het |
Or4d11 |
T |
C |
19: 12,013,363 (GRCm39) |
T248A |
probably benign |
Het |
Or4d6 |
T |
C |
19: 12,086,061 (GRCm39) |
N57S |
probably damaging |
Het |
Or4e5 |
T |
C |
14: 52,727,638 (GRCm39) |
Y261C |
probably damaging |
Het |
Or7a39 |
C |
A |
10: 78,715,288 (GRCm39) |
T94K |
probably damaging |
Het |
Or7e165 |
T |
A |
9: 19,694,507 (GRCm39) |
I26N |
possibly damaging |
Het |
Osbpl6 |
G |
A |
2: 76,379,794 (GRCm39) |
G128E |
probably damaging |
Het |
P3h3 |
A |
T |
6: 124,832,233 (GRCm39) |
Y218N |
probably damaging |
Het |
Paxip1 |
A |
G |
5: 27,986,418 (GRCm39) |
|
probably null |
Het |
Pdia5 |
T |
C |
16: 35,250,284 (GRCm39) |
Y225C |
probably damaging |
Het |
Pik3c2g |
T |
G |
6: 139,801,079 (GRCm39) |
M526R |
|
Het |
Prox1 |
A |
G |
1: 189,894,323 (GRCm39) |
F41L |
probably benign |
Het |
Psd3 |
A |
T |
8: 68,453,408 (GRCm39) |
F284I |
probably damaging |
Het |
Rev3l |
T |
A |
10: 39,699,678 (GRCm39) |
C1392S |
probably benign |
Het |
Rfxank |
A |
T |
8: 70,587,285 (GRCm39) |
V212E |
probably damaging |
Het |
Ros1 |
T |
C |
10: 52,031,222 (GRCm39) |
D482G |
probably benign |
Het |
Sat2 |
A |
T |
11: 69,513,763 (GRCm39) |
I94F |
probably damaging |
Het |
Scarf2 |
T |
C |
16: 17,621,702 (GRCm39) |
L384P |
probably damaging |
Het |
Sec14l2 |
C |
A |
11: 4,066,750 (GRCm39) |
E21* |
probably null |
Het |
Slitrk5 |
T |
A |
14: 111,918,131 (GRCm39) |
V585E |
probably benign |
Het |
Spata31h1 |
T |
A |
10: 82,123,571 (GRCm39) |
E3146D |
probably benign |
Het |
Spata31h1 |
T |
C |
10: 82,123,729 (GRCm39) |
S3094G |
probably benign |
Het |
Tas2r130 |
T |
A |
6: 131,607,226 (GRCm39) |
M190L |
probably benign |
Het |
Ticrr |
G |
A |
7: 79,341,597 (GRCm39) |
S1061N |
possibly damaging |
Het |
Tlr9 |
C |
A |
9: 106,102,463 (GRCm39) |
H585N |
probably damaging |
Het |
Tmem219 |
A |
T |
7: 126,495,947 (GRCm39) |
I142N |
probably damaging |
Het |
Tnni2 |
A |
G |
7: 141,996,915 (GRCm39) |
N8S |
probably benign |
Het |
Tnpo2 |
G |
A |
8: 85,776,748 (GRCm39) |
R485H |
probably damaging |
Het |
Ttc8 |
A |
G |
12: 98,908,547 (GRCm39) |
E72G |
possibly damaging |
Het |
Upf1 |
A |
G |
8: 70,793,268 (GRCm39) |
Y297H |
probably damaging |
Het |
Vmn1r4 |
A |
G |
6: 56,933,721 (GRCm39) |
K75R |
probably damaging |
Het |
Vmn2r78 |
G |
A |
7: 86,571,633 (GRCm39) |
G481D |
probably benign |
Het |
Vmn2r96 |
A |
G |
17: 18,803,302 (GRCm39) |
Y404C |
probably damaging |
Het |
Xkr7 |
C |
A |
2: 152,895,983 (GRCm39) |
S279* |
probably null |
Het |
Zan |
G |
A |
5: 137,432,416 (GRCm39) |
Q2294* |
probably null |
Het |
Zan |
T |
C |
5: 137,448,753 (GRCm39) |
Y1700C |
unknown |
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 |
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'- CTTCCAGCACTCTCATTGGG -3'
(R):5'- CTGGAGCATATAAAAGTCACTTGAG -3'
Sequencing Primer
(F):5'- AGCACTCTCATTGGGCCACAG -3'
(R):5'- CACCACACACAGTTGAGTATTTTC -3'
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Posted On |
2019-09-13 |