Incidental Mutation 'R9089:Vps50'
| ID |
690812 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vps50
|
| Ensembl Gene |
ENSMUSG00000001376 |
| Gene Name |
VPS50 EARP/GARPII complex subunit |
| Synonyms |
Ccdc132, 1700034M03Rik, 8430415E05Rik |
| MMRRC Submission |
068907-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.902)
|
| Stock # |
R9089 (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 C
at 3536884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 285
(V285A)
|
| 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: V285A
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000001412
Gene: ENSMUSG00000001376
AA Change: V285A
| 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: V285A
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000125872
Gene: ENSMUSG00000001376
AA Change: V285A
| 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: V285A
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000128323
Gene: ENSMUSG00000001376
AA Change: V285A
| 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: 99.3%
|
| Validation Efficiency |
100% (67/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700122O11Rik |
T |
A |
17: 48,347,951 (GRCm39) |
R118* |
probably null |
Het |
| Acadsb |
T |
C |
7: 131,027,504 (GRCm39) |
V68A |
probably damaging |
Het |
| Adgb |
T |
C |
10: 10,318,432 (GRCm39) |
R137G |
probably benign |
Het |
| Adgrl3 |
C |
A |
5: 81,808,291 (GRCm39) |
N622K |
possibly damaging |
Het |
| Ager |
C |
A |
17: 34,819,579 (GRCm39) |
P366T |
probably benign |
Het |
| Barx2 |
C |
A |
9: 31,765,443 (GRCm39) |
W184L |
probably damaging |
Het |
| Bckdha |
A |
C |
7: 25,341,144 (GRCm39) |
N72K |
probably benign |
Het |
| Blm |
A |
T |
7: 80,162,867 (GRCm39) |
D161E |
probably damaging |
Het |
| Ccdc121rt2 |
A |
T |
5: 112,598,757 (GRCm39) |
R435W |
probably damaging |
Het |
| Cd96 |
G |
T |
16: 45,870,068 (GRCm39) |
T467N |
probably benign |
Het |
| Cdk13 |
A |
T |
13: 17,978,444 (GRCm39) |
S265T |
unknown |
Het |
| Col6a5 |
A |
C |
9: 105,766,142 (GRCm39) |
I1926S |
probably damaging |
Het |
| Csgalnact2 |
A |
T |
6: 118,097,983 (GRCm39) |
V361D |
probably damaging |
Het |
| Cstf1 |
T |
A |
2: 172,217,807 (GRCm39) |
M140K |
|
Het |
| Ddx41 |
A |
T |
13: 55,683,424 (GRCm39) |
S128T |
probably benign |
Het |
| Deaf1 |
A |
T |
7: 140,877,465 (GRCm39) |
V554D |
probably damaging |
Het |
| Dido1 |
C |
T |
2: 180,303,293 (GRCm39) |
S1537N |
probably benign |
Het |
| Dmwd |
T |
C |
7: 18,811,980 (GRCm39) |
S145P |
probably damaging |
Het |
| Eftud2 |
A |
G |
11: 102,759,971 (GRCm39) |
S125P |
probably benign |
Het |
| Gga1 |
A |
G |
15: 78,773,952 (GRCm39) |
D325G |
probably damaging |
Het |
| Gm43518 |
T |
C |
5: 124,072,329 (GRCm39) |
|
probably null |
Het |
| Got1l1 |
A |
T |
8: 27,690,889 (GRCm39) |
V53E |
probably damaging |
Het |
| Helz2 |
A |
T |
2: 180,881,433 (GRCm39) |
C350S |
probably damaging |
Het |
| Ipo7 |
T |
A |
7: 109,643,666 (GRCm39) |
F398I |
possibly damaging |
Het |
| Itga11 |
A |
G |
9: 62,678,662 (GRCm39) |
N943S |
probably damaging |
Het |
| Itpa |
T |
A |
2: 130,509,857 (GRCm39) |
|
probably null |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kbtbd4 |
A |
T |
2: 90,737,909 (GRCm39) |
N220Y |
possibly damaging |
Het |
| Kdm5b |
T |
A |
1: 134,535,506 (GRCm39) |
F594L |
probably damaging |
Het |
| Klhdc4 |
C |
T |
8: 122,524,684 (GRCm39) |
V446I |
probably benign |
Het |
| Klk1b1 |
A |
G |
7: 43,620,668 (GRCm39) |
I253V |
possibly damaging |
Het |
| Kynu |
T |
A |
2: 43,489,620 (GRCm39) |
M135K |
probably damaging |
Het |
| Lgi1 |
T |
C |
19: 38,294,095 (GRCm39) |
I289T |
possibly damaging |
Het |
| Lhx2 |
A |
G |
2: 38,250,045 (GRCm39) |
N288S |
probably damaging |
Het |
| Lrp6 |
G |
C |
6: 134,488,169 (GRCm39) |
A309G |
probably damaging |
Het |
| Map2 |
T |
A |
1: 66,452,098 (GRCm39) |
N329K |
probably benign |
Het |
| Med15 |
G |
A |
16: 17,473,421 (GRCm39) |
P476L |
unknown |
Het |
| Muc16 |
A |
T |
9: 18,555,846 (GRCm39) |
N3482K |
unknown |
Het |
| Nemf |
A |
C |
12: 69,400,628 (GRCm39) |
V149G |
probably damaging |
Het |
| Notch3 |
T |
C |
17: 32,370,521 (GRCm39) |
S706G |
probably benign |
Het |
| Nphp4 |
T |
C |
4: 152,645,673 (GRCm39) |
V1227A |
possibly damaging |
Het |
| Or1e31 |
A |
G |
11: 73,690,052 (GRCm39) |
F177S |
probably damaging |
Het |
| Or2a52 |
A |
T |
6: 43,144,917 (GRCm39) |
R308S |
probably benign |
Het |
| Or6c70 |
A |
G |
10: 129,710,488 (GRCm39) |
L46P |
probably damaging |
Het |
| Parp2 |
A |
G |
14: 51,052,327 (GRCm39) |
T102A |
probably damaging |
Het |
| Pcdhgc3 |
T |
C |
18: 37,941,264 (GRCm39) |
V555A |
possibly damaging |
Het |
| Plk5 |
C |
G |
10: 80,193,830 (GRCm39) |
R40G |
probably damaging |
Het |
| Ralgapa1 |
A |
C |
12: 55,723,351 (GRCm39) |
L1725R |
probably damaging |
Het |
| Reln |
G |
T |
5: 22,130,198 (GRCm39) |
D2704E |
probably benign |
Het |
| Sart3 |
C |
A |
5: 113,891,756 (GRCm39) |
E405D |
possibly damaging |
Het |
| Scin |
A |
T |
12: 40,131,703 (GRCm39) |
L277* |
probably null |
Het |
| Sec62 |
T |
A |
3: 30,868,383 (GRCm39) |
V204E |
probably benign |
Het |
| Serpina3a |
T |
C |
12: 104,085,956 (GRCm39) |
I137T |
possibly damaging |
Het |
| Sh3rf1 |
T |
C |
8: 61,825,613 (GRCm39) |
M536T |
probably benign |
Het |
| Slc45a4 |
T |
C |
15: 73,457,953 (GRCm39) |
H532R |
probably damaging |
Het |
| Svs5 |
A |
G |
2: 164,079,341 (GRCm39) |
F189L |
probably benign |
Het |
| Synm |
T |
C |
7: 67,408,766 (GRCm39) |
D204G |
probably damaging |
Het |
| Tmtc1 |
A |
T |
6: 148,147,215 (GRCm39) |
H827Q |
possibly damaging |
Het |
| Tnfrsf25 |
T |
A |
4: 152,201,929 (GRCm39) |
C135* |
probably null |
Het |
| Unc13b |
T |
G |
4: 43,095,847 (GRCm39) |
I85S |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,487,374 (GRCm39) |
Y3047* |
probably null |
Het |
| Vmn1r75 |
T |
C |
7: 11,614,453 (GRCm39) |
S62P |
probably damaging |
Het |
| Vwa5b1 |
T |
A |
4: 138,296,742 (GRCm39) |
D1095V |
probably benign |
Het |
| Zdhhc21 |
T |
A |
4: 82,725,292 (GRCm39) |
D208V |
probably damaging |
Het |
| Zfp422 |
A |
C |
6: 116,604,086 (GRCm39) |
|
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 |
|
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 |
|
|
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'- TGCCACGGGTATATGAAAGC -3'
(R):5'- TATTTTAGGGGCATCTTCAGGC -3'
Sequencing Primer
(F):5'- TGAAAGCTGCTTTGCACACACTG -3'
(R):5'- TTAGGGGCATCTTCAGGCAATAG -3'
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| Posted On |
2021-12-30 |
Incidental Mutation