Incidental Mutation 'R8845:Vps50'
| ID |
674651 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vps50
|
| Ensembl Gene |
ENSMUSG00000001376 |
| Gene Name |
VPS50 EARP/GARPII complex subunit |
| Synonyms |
Ccdc132, 1700034M03Rik, 8430415E05Rik |
| MMRRC Submission |
068734-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.902)
|
| Stock # |
R8845 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
3498393-3603531 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 3504926 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 31
(V31I)
|
| 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: V31I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000001412
Gene: ENSMUSG00000001376
AA Change: V31I
| 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
AA Change: V31I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000125872
Gene: ENSMUSG00000001376
AA Change: V31I
| 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: V31I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000128323
Gene: ENSMUSG00000001376
AA Change: V31I
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
C |
T |
7: 119,846,428 (GRCm39) |
P627S |
probably benign |
Het |
| Abca4 |
G |
A |
3: 121,930,651 (GRCm39) |
V1383M |
probably damaging |
Het |
| Acer3 |
A |
G |
7: 97,910,832 (GRCm39) |
S77P |
probably damaging |
Het |
| Adgrv1 |
G |
T |
13: 81,629,478 (GRCm39) |
T3640N |
possibly damaging |
Het |
| Agmo |
T |
C |
12: 37,294,364 (GRCm39) |
L104P |
probably benign |
Het |
| Alox12 |
C |
A |
11: 70,137,877 (GRCm39) |
G421V |
probably damaging |
Het |
| Atad2 |
A |
G |
15: 57,989,532 (GRCm39) |
V182A |
probably damaging |
Het |
| Bnc2 |
C |
T |
4: 84,194,338 (GRCm39) |
A929T |
possibly damaging |
Het |
| Bola3 |
T |
C |
6: 83,335,154 (GRCm39) |
M83T |
probably damaging |
Het |
| Brca2 |
T |
C |
5: 150,466,847 (GRCm39) |
F2204L |
possibly damaging |
Het |
| Cachd1 |
T |
C |
4: 100,810,343 (GRCm39) |
V315A |
probably benign |
Het |
| Ccdc154 |
C |
A |
17: 25,390,138 (GRCm39) |
N547K |
probably damaging |
Het |
| Ccdc62 |
C |
A |
5: 124,092,470 (GRCm39) |
T485K |
probably benign |
Het |
| Cdc40 |
G |
A |
10: 40,717,790 (GRCm39) |
T371I |
possibly damaging |
Het |
| Cep112 |
T |
C |
11: 108,461,193 (GRCm39) |
F657L |
probably damaging |
Het |
| Cirbp |
A |
G |
10: 80,005,931 (GRCm39) |
D62G |
probably damaging |
Het |
| Cntf |
A |
C |
19: 12,741,664 (GRCm39) |
S65R |
probably benign |
Het |
| Cxxc4 |
CGGC |
CGGCGGGGGC |
3: 133,945,912 (GRCm39) |
|
probably benign |
Het |
| Cyfip1 |
G |
T |
7: 55,579,834 (GRCm39) |
G1229V |
probably benign |
Het |
| Cyp4a30b |
A |
C |
4: 115,315,493 (GRCm39) |
N238T |
probably benign |
Het |
| Dbx2 |
G |
A |
15: 95,552,517 (GRCm39) |
R43C |
probably benign |
Het |
| Efcab3 |
A |
T |
11: 104,899,787 (GRCm39) |
I4350F |
possibly damaging |
Het |
| Fbxw13 |
G |
T |
9: 109,023,833 (GRCm39) |
F70L |
possibly damaging |
Het |
| Fhod3 |
A |
G |
18: 25,265,976 (GRCm39) |
T1555A |
probably damaging |
Het |
| Fnbp4 |
A |
G |
2: 90,606,368 (GRCm39) |
M763V |
probably benign |
Het |
| Gdf7 |
A |
G |
12: 8,348,905 (GRCm39) |
S131P |
unknown |
Het |
| Gm9938 |
A |
T |
19: 23,701,941 (GRCm39) |
E93V |
unknown |
Het |
| Golim4 |
A |
T |
3: 75,802,272 (GRCm39) |
M340K |
probably damaging |
Het |
| Gphn |
A |
G |
12: 78,538,953 (GRCm39) |
S200G |
probably benign |
Het |
| Hpse |
T |
C |
5: 100,859,248 (GRCm39) |
D99G |
probably benign |
Het |
| Iqgap2 |
A |
T |
13: 95,794,392 (GRCm39) |
N1193K |
possibly damaging |
Het |
| Jag2 |
A |
T |
12: 112,883,714 (GRCm39) |
C256S |
probably damaging |
Het |
| Ldb3 |
T |
C |
14: 34,258,634 (GRCm39) |
Y657C |
probably damaging |
Het |
| Lmtk2 |
T |
A |
5: 144,110,704 (GRCm39) |
Y475N |
probably damaging |
Het |
| Mep1b |
A |
T |
18: 21,230,379 (GRCm39) |
K644* |
probably null |
Het |
| Muc4 |
A |
C |
16: 32,576,889 (GRCm39) |
T60P |
possibly damaging |
Het |
| Nckap5 |
G |
T |
1: 125,909,423 (GRCm39) |
Q1603K |
possibly damaging |
Het |
| Npy6r |
C |
T |
18: 44,408,606 (GRCm39) |
T9I |
probably benign |
Het |
| Nsd2 |
T |
C |
5: 34,039,885 (GRCm39) |
C846R |
probably damaging |
Het |
| Oard1 |
A |
C |
17: 48,721,259 (GRCm39) |
K64Q |
probably benign |
Het |
| Or4c103 |
T |
A |
2: 88,513,735 (GRCm39) |
I114F |
possibly damaging |
Het |
| Or52e19b |
A |
T |
7: 103,032,357 (GRCm39) |
V284D |
probably damaging |
Het |
| Or5w8 |
G |
T |
2: 87,687,545 (GRCm39) |
V9L |
probably benign |
Het |
| Or6c208 |
A |
G |
10: 129,224,065 (GRCm39) |
T188A |
probably damaging |
Het |
| Pkhd1l1 |
T |
G |
15: 44,368,650 (GRCm39) |
S823A |
probably benign |
Het |
| Pla2r1 |
A |
G |
2: 60,259,053 (GRCm39) |
S1112P |
possibly damaging |
Het |
| Plekho2 |
T |
C |
9: 65,465,963 (GRCm39) |
T142A |
probably damaging |
Het |
| Prr35 |
A |
T |
17: 26,165,823 (GRCm39) |
V488E |
probably benign |
Het |
| Prrc2b |
T |
A |
2: 32,102,105 (GRCm39) |
M726K |
possibly damaging |
Het |
| Prrc2b |
A |
T |
2: 32,106,162 (GRCm39) |
K1514I |
possibly damaging |
Het |
| Rin1 |
A |
T |
19: 5,104,947 (GRCm39) |
D669V |
probably damaging |
Het |
| Setd1b |
C |
T |
5: 123,282,310 (GRCm39) |
A146V |
unknown |
Het |
| Sigmar1 |
G |
A |
4: 41,741,234 (GRCm39) |
R7W |
probably damaging |
Het |
| Slain1 |
C |
T |
14: 103,925,747 (GRCm39) |
T365I |
possibly damaging |
Het |
| Slc38a2 |
G |
A |
15: 96,592,900 (GRCm39) |
T186I |
probably benign |
Het |
| Tas2r130 |
A |
T |
6: 131,607,642 (GRCm39) |
V51E |
probably benign |
Het |
| Tgfb1i1 |
A |
T |
7: 127,851,690 (GRCm39) |
H332L |
possibly damaging |
Het |
| Trav7n-4 |
T |
C |
14: 53,328,846 (GRCm39) |
L15S |
probably damaging |
Het |
| Ttc28 |
T |
C |
5: 111,372,041 (GRCm39) |
V861A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,632,658 (GRCm39) |
I14132T |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,606,380 (GRCm39) |
E18143G |
probably damaging |
Het |
| Vmn1r203 |
C |
T |
13: 22,708,720 (GRCm39) |
S167L |
possibly damaging |
Het |
| Vmn2r108 |
A |
T |
17: 20,691,361 (GRCm39) |
H387Q |
probably benign |
Het |
| Vps33a |
A |
T |
5: 123,709,538 (GRCm39) |
|
probably null |
Het |
| Wdcp |
A |
G |
12: 4,901,439 (GRCm39) |
T432A |
probably benign |
Het |
| Wdr36 |
T |
A |
18: 32,994,098 (GRCm39) |
Y645* |
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 |
|
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 |
|
|
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'- AGACCGTATGTGTTAAGCGAC -3'
(R):5'- TGGTGAATCATACTGCATCCC -3'
Sequencing Primer
(F):5'- AGACCGTATGTGTTAAGCGACATTTG -3'
(R):5'- GTGAATCATACTGCATCCCCACAC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation