Incidental Mutation 'R9485:Vps50'
| ID |
716513 |
| 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 # |
R9485 (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 C
at 3592557 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 730
(V730A)
|
| 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: V730A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000001412
Gene: ENSMUSG00000001376
AA Change: V730A
| 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: V730A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125872
Gene: ENSMUSG00000001376
AA Change: V730A
| 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: V730A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128323
Gene: ENSMUSG00000001376
AA Change: V730A
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,383,400 (GRCm39) |
D855G |
possibly damaging |
Het |
| 4930486L24Rik |
A |
T |
13: 61,001,059 (GRCm39) |
V159D |
possibly damaging |
Het |
| Ahnak |
G |
A |
19: 8,979,438 (GRCm39) |
A241T |
probably benign |
Het |
| Apoa4 |
T |
C |
9: 46,152,453 (GRCm39) |
M1T |
probably null |
Het |
| Atn1 |
T |
C |
6: 124,722,748 (GRCm39) |
K776E |
unknown |
Het |
| Atp1a2 |
A |
G |
1: 172,105,822 (GRCm39) |
*948R |
probably null |
Het |
| Atp7b |
T |
C |
8: 22,502,778 (GRCm39) |
Q801R |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,945,398 (GRCm39) |
S2824T |
probably damaging |
Het |
| Cacng3 |
A |
T |
7: 122,361,435 (GRCm39) |
I109F |
probably damaging |
Het |
| Cass4 |
T |
C |
2: 172,269,805 (GRCm39) |
F629S |
probably benign |
Het |
| Ccdc168 |
T |
G |
1: 44,095,399 (GRCm39) |
K1900Q |
possibly damaging |
Het |
| Cnot6l |
T |
C |
5: 96,230,858 (GRCm39) |
T370A |
probably damaging |
Het |
| Cntnap5c |
A |
C |
17: 58,409,103 (GRCm39) |
D447A |
probably damaging |
Het |
| Col11a2 |
T |
A |
17: 34,258,669 (GRCm39) |
L14Q |
unknown |
Het |
| Dennd4a |
T |
G |
9: 64,814,388 (GRCm39) |
Y1505* |
probably null |
Het |
| Dhx32 |
T |
C |
7: 133,327,110 (GRCm39) |
M464V |
possibly damaging |
Het |
| Dip2b |
T |
C |
15: 100,052,924 (GRCm39) |
V266A |
probably benign |
Het |
| Dnajb6 |
C |
T |
5: 29,986,517 (GRCm39) |
Q220* |
probably null |
Het |
| Dnmt3a |
G |
A |
12: 3,916,121 (GRCm39) |
S102N |
probably benign |
Het |
| Dph5 |
A |
T |
3: 115,681,977 (GRCm39) |
|
probably benign |
Het |
| Ear6 |
T |
A |
14: 52,091,489 (GRCm39) |
L12H |
|
Het |
| Erp27 |
T |
C |
6: 136,886,548 (GRCm39) |
T162A |
possibly damaging |
Het |
| Fance |
T |
A |
17: 28,536,479 (GRCm39) |
L13H |
probably damaging |
Het |
| Fanci |
T |
A |
7: 79,089,405 (GRCm39) |
V947D |
probably benign |
Het |
| Gab1 |
G |
A |
8: 81,515,484 (GRCm39) |
T278M |
probably damaging |
Het |
| Gbp4 |
A |
T |
5: 105,269,796 (GRCm39) |
M344K |
probably damaging |
Het |
| Gpr87 |
C |
T |
3: 59,087,005 (GRCm39) |
V167M |
possibly damaging |
Het |
| Gramd1a |
T |
G |
7: 30,829,963 (GRCm39) |
D708A |
unknown |
Het |
| Gzmd |
T |
A |
14: 56,368,160 (GRCm39) |
I100F |
probably benign |
Het |
| Hcrtr1 |
T |
A |
4: 130,031,054 (GRCm39) |
M77L |
possibly damaging |
Het |
| Hipk2 |
C |
A |
6: 38,680,445 (GRCm39) |
R965L |
possibly damaging |
Het |
| Ift88 |
T |
C |
14: 57,675,724 (GRCm39) |
M79T |
probably benign |
Het |
| Ighv1-12 |
T |
C |
12: 114,579,525 (GRCm39) |
Y99C |
possibly damaging |
Het |
| Il1rl2 |
CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT |
CTTTATTTTATTTTATTTTATTTTATTTTATTTTATT |
1: 40,366,470 (GRCm39) |
|
probably benign |
Het |
| Il22b |
A |
G |
10: 118,130,314 (GRCm39) |
V63A |
probably benign |
Het |
| Mllt1 |
C |
T |
17: 57,207,184 (GRCm39) |
R220H |
probably damaging |
Het |
| Mroh8 |
T |
C |
2: 157,071,913 (GRCm39) |
T531A |
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,181,802 (GRCm39) |
K1833R |
probably benign |
Het |
| Nfkbie |
C |
T |
17: 45,871,353 (GRCm39) |
T270I |
probably damaging |
Het |
| Or4c110 |
G |
A |
2: 88,831,709 (GRCm39) |
P308S |
unknown |
Het |
| Or52b3 |
A |
T |
7: 102,204,013 (GRCm39) |
N174I |
probably damaging |
Het |
| Or52e5 |
C |
T |
7: 104,718,703 (GRCm39) |
H10Y |
possibly damaging |
Het |
| Pcdh8 |
A |
T |
14: 80,005,689 (GRCm39) |
F900I |
probably damaging |
Het |
| Pcolce2 |
T |
A |
9: 95,520,720 (GRCm39) |
C32* |
probably null |
Het |
| Pus7 |
A |
T |
5: 23,973,859 (GRCm39) |
S212T |
probably benign |
Het |
| Rgs12 |
G |
T |
5: 35,189,614 (GRCm39) |
W1322L |
probably damaging |
Het |
| Sec1 |
G |
A |
7: 45,328,033 (GRCm39) |
T338I |
probably damaging |
Het |
| Slc25a36 |
T |
C |
9: 96,962,522 (GRCm39) |
K156E |
probably benign |
Het |
| Snrpn |
C |
T |
7: 59,637,212 (GRCm39) |
D35N |
probably damaging |
Het |
| Sox9 |
A |
G |
11: 112,673,705 (GRCm39) |
S99G |
probably benign |
Het |
| Spmip3 |
T |
C |
1: 177,580,545 (GRCm39) |
V130A |
possibly damaging |
Het |
| Tacc3 |
T |
C |
5: 33,821,644 (GRCm39) |
S135P |
possibly damaging |
Het |
| Taf2 |
T |
C |
15: 54,911,667 (GRCm39) |
E583G |
probably benign |
Het |
| Tmprss7 |
T |
A |
16: 45,498,282 (GRCm39) |
K366* |
probably null |
Het |
| Trpm6 |
G |
T |
19: 18,755,978 (GRCm39) |
V74L |
probably benign |
Het |
| Ttbk2 |
G |
T |
2: 120,575,986 (GRCm39) |
T997N |
probably benign |
Het |
| Utp25 |
C |
A |
1: 192,812,541 (GRCm39) |
|
probably benign |
Het |
| Vmn2r3 |
T |
A |
3: 64,183,046 (GRCm39) |
I218F |
probably damaging |
Het |
| Wdr47 |
A |
T |
3: 108,544,371 (GRCm39) |
I665F |
probably damaging |
Het |
| Wnt7a |
T |
A |
6: 91,343,297 (GRCm39) |
N195I |
probably benign |
Het |
| Zfp131 |
A |
G |
13: 120,251,885 (GRCm39) |
|
probably benign |
Het |
| Zfp709 |
T |
A |
8: 72,643,669 (GRCm39) |
V366E |
possibly damaging |
Het |
| Zfp985 |
T |
A |
4: 147,668,280 (GRCm39) |
C383S |
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 |
|
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'- ACTATTAGACTTGCTGTTTCAGGTG -3'
(R):5'- TACCATGGATTCTACCAGGAAGC -3'
Sequencing Primer
(F):5'- GTGTGTGTGCTGTCTTTCCAG -3'
(R):5'- TGGCAATCTCTAGGCCAATG -3'
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| Posted On |
2022-07-18 |
Incidental Mutation