Incidental Mutation 'R7790:Usp9y'
ID |
599854 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp9y
|
Ensembl Gene |
ENSMUSG00000069044 |
Gene Name |
ubiquitin specific peptidase 9, Y chromosome |
Synonyms |
Fafl2, Dffry |
MMRRC Submission |
045846-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R7790 (G1)
|
Quality Score |
221.999 |
Status
|
Validated
|
Chromosome |
Y |
Chromosomal Location |
1298961-1459782 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 1444573 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 122
(D122V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000088727
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091188]
|
AlphaFold |
F8VPU6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091188
AA Change: D122V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000088727 Gene: ENSMUSG00000069044 AA Change: D122V
Domain | Start | End | E-Value | Type |
low complexity region
|
34 |
48 |
N/A |
INTRINSIC |
low complexity region
|
286 |
301 |
N/A |
INTRINSIC |
low complexity region
|
973 |
983 |
N/A |
INTRINSIC |
low complexity region
|
1089 |
1100 |
N/A |
INTRINSIC |
low complexity region
|
1352 |
1363 |
N/A |
INTRINSIC |
Pfam:UCH
|
1558 |
1955 |
9.2e-53 |
PFAM |
Pfam:UCH_1
|
1559 |
1909 |
4e-22 |
PFAM |
low complexity region
|
1959 |
1971 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (81/81) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the peptidase C19 family. It encodes a protein that is similar to ubiquitin-specific proteases, which cleave the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. [provided by RefSeq, Mar 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700009N14Rik |
A |
T |
4: 39,451,201 (GRCm39) |
I136F |
possibly damaging |
Het |
Abca13 |
A |
T |
11: 9,247,915 (GRCm39) |
K2554M |
probably damaging |
Het |
Ankrd12 |
C |
T |
17: 66,291,225 (GRCm39) |
D1403N |
possibly damaging |
Het |
Ankrd17 |
A |
G |
5: 90,408,011 (GRCm39) |
V1402A |
possibly damaging |
Het |
Ankrd36 |
A |
T |
11: 5,585,176 (GRCm39) |
N329I |
possibly damaging |
Het |
Atr |
A |
T |
9: 95,756,233 (GRCm39) |
D815V |
probably damaging |
Het |
C9orf72 |
T |
C |
4: 35,192,997 (GRCm39) |
D444G |
unknown |
Het |
Ceacam1 |
T |
C |
7: 25,173,375 (GRCm39) |
Y271C |
probably damaging |
Het |
Cenpo |
T |
C |
12: 4,264,597 (GRCm39) |
H265R |
probably benign |
Het |
Chd8 |
G |
A |
14: 52,463,539 (GRCm39) |
R702W |
probably damaging |
Het |
Ckap5 |
A |
G |
2: 91,389,455 (GRCm39) |
N309S |
probably benign |
Het |
Cxxc1 |
C |
T |
18: 74,350,855 (GRCm39) |
R83C |
probably damaging |
Het |
Dcaf6 |
T |
C |
1: 165,227,284 (GRCm39) |
D281G |
probably damaging |
Het |
Dennd4c |
A |
G |
4: 86,717,754 (GRCm39) |
T584A |
probably damaging |
Het |
Drgx |
T |
A |
14: 32,350,845 (GRCm39) |
L227Q |
probably damaging |
Het |
Dync2h1 |
G |
T |
9: 7,114,914 (GRCm39) |
H2415N |
probably damaging |
Het |
Dzip1l |
A |
G |
9: 99,543,015 (GRCm39) |
E490G |
possibly damaging |
Het |
Fam124a |
T |
C |
14: 62,843,526 (GRCm39) |
S345P |
probably benign |
Het |
Fam83b |
G |
A |
9: 76,399,330 (GRCm39) |
T591I |
probably benign |
Het |
Frem1 |
T |
C |
4: 82,907,401 (GRCm39) |
S838G |
probably benign |
Het |
Fsip2 |
G |
T |
2: 82,818,723 (GRCm39) |
D4819Y |
probably benign |
Het |
Gm43302 |
T |
G |
5: 105,425,691 (GRCm39) |
K246T |
probably benign |
Het |
Gml |
T |
C |
15: 74,685,462 (GRCm39) |
|
probably benign |
Het |
Gpc1 |
A |
T |
1: 92,781,171 (GRCm39) |
H90L |
probably benign |
Het |
Grik3 |
T |
C |
4: 125,579,812 (GRCm39) |
L519P |
probably damaging |
Het |
Grwd1 |
A |
G |
7: 45,475,438 (GRCm39) |
V368A |
probably damaging |
Het |
Gstm3 |
G |
A |
3: 107,876,555 (GRCm39) |
|
probably benign |
Het |
Gtpbp6 |
A |
G |
5: 110,252,252 (GRCm39) |
S427P |
probably damaging |
Het |
Heatr5b |
C |
T |
17: 79,126,252 (GRCm39) |
G560E |
probably damaging |
Het |
Heatr9 |
A |
G |
11: 83,409,019 (GRCm39) |
V176A |
probably damaging |
Het |
Hsf2bp |
A |
G |
17: 32,253,453 (GRCm39) |
V5A |
probably benign |
Het |
Ints3 |
G |
T |
3: 90,307,720 (GRCm39) |
Q660K |
probably benign |
Het |
Itpr2 |
A |
T |
6: 146,126,274 (GRCm39) |
L2048Q |
probably damaging |
Het |
Kcnq1 |
G |
A |
7: 142,660,342 (GRCm39) |
|
probably null |
Het |
Lsm12 |
A |
T |
11: 102,055,995 (GRCm39) |
|
probably null |
Het |
Mcoln3 |
A |
G |
3: 145,845,247 (GRCm39) |
Y481C |
probably damaging |
Het |
Meis3 |
A |
G |
7: 15,916,322 (GRCm39) |
N266D |
probably benign |
Het |
Mgat5 |
G |
A |
1: 127,339,941 (GRCm39) |
E441K |
probably benign |
Het |
Mroh6 |
C |
T |
15: 75,756,089 (GRCm39) |
R689H |
probably benign |
Het |
Mtg1 |
T |
C |
7: 139,729,662 (GRCm39) |
Y251H |
probably damaging |
Het |
Mtus2 |
A |
T |
5: 148,014,998 (GRCm39) |
Q597L |
probably benign |
Het |
Myt1 |
A |
G |
2: 181,439,390 (GRCm39) |
E346G |
probably benign |
Het |
Nat8f4 |
A |
G |
6: 85,877,873 (GRCm39) |
S217P |
probably benign |
Het |
Ngf |
G |
A |
3: 102,417,140 (GRCm39) |
G17R |
unknown |
Het |
Or7e171-ps1 |
A |
T |
9: 19,852,980 (GRCm39) |
M252K |
unknown |
Het |
Pam |
T |
C |
1: 97,749,572 (GRCm39) |
Y968C |
probably damaging |
Het |
Pcdhga7 |
T |
A |
18: 37,847,996 (GRCm39) |
M1K |
probably null |
Het |
Pde8b |
G |
T |
13: 95,170,679 (GRCm39) |
D554E |
probably benign |
Het |
Pdzd7 |
G |
A |
19: 45,033,962 (GRCm39) |
R41* |
probably null |
Het |
Pkhd1l1 |
C |
T |
15: 44,441,977 (GRCm39) |
P3639S |
probably damaging |
Het |
Plce1 |
A |
T |
19: 38,769,140 (GRCm39) |
E2280V |
probably damaging |
Het |
Ryr1 |
T |
C |
7: 28,804,257 (GRCm39) |
I538V |
probably benign |
Het |
Scaf11 |
A |
G |
15: 96,316,942 (GRCm39) |
L874P |
possibly damaging |
Het |
Scpep1 |
G |
T |
11: 88,824,347 (GRCm39) |
D307E |
possibly damaging |
Het |
Septin4 |
A |
G |
11: 87,480,065 (GRCm39) |
E327G |
probably damaging |
Het |
Skint2 |
T |
G |
4: 112,473,751 (GRCm39) |
V11G |
possibly damaging |
Het |
Slc26a4 |
T |
C |
12: 31,594,482 (GRCm39) |
N289D |
probably damaging |
Het |
Slc35f3 |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
8: 127,115,777 (GRCm39) |
|
probably benign |
Het |
Slx4 |
T |
C |
16: 3,804,846 (GRCm39) |
E656G |
probably benign |
Het |
Socs5 |
T |
C |
17: 87,441,791 (GRCm39) |
S244P |
probably benign |
Het |
Spata31h1 |
C |
T |
10: 82,123,329 (GRCm39) |
C3227Y |
probably benign |
Het |
Speer1e |
C |
A |
5: 11,234,185 (GRCm39) |
H30Q |
probably benign |
Het |
Stt3b |
A |
C |
9: 115,105,887 (GRCm39) |
L196R |
probably damaging |
Het |
Syne2 |
T |
A |
12: 75,975,877 (GRCm39) |
|
probably null |
Het |
Tab2 |
T |
A |
10: 7,796,188 (GRCm39) |
N24I |
probably damaging |
Het |
Taf4b |
T |
C |
18: 14,946,331 (GRCm39) |
S385P |
probably damaging |
Het |
Tg |
T |
C |
15: 66,721,453 (GRCm39) |
Y2720H |
probably damaging |
Het |
Tjap1 |
C |
T |
17: 46,569,616 (GRCm39) |
G448E |
probably benign |
Het |
Tll1 |
A |
T |
8: 64,478,271 (GRCm39) |
C827* |
probably null |
Het |
Tlr11 |
T |
A |
14: 50,599,382 (GRCm39) |
I456K |
probably benign |
Het |
Tmem209 |
T |
C |
6: 30,497,854 (GRCm39) |
D305G |
probably damaging |
Het |
Tmem82 |
A |
T |
4: 141,345,035 (GRCm39) |
|
probably null |
Het |
Tnfrsf14 |
A |
G |
4: 155,007,750 (GRCm39) |
V207A |
probably benign |
Het |
Tnks |
A |
T |
8: 35,328,694 (GRCm39) |
N625K |
probably benign |
Het |
Tomm20 |
G |
A |
8: 127,666,700 (GRCm39) |
P58S |
possibly damaging |
Het |
Ttc9b |
A |
G |
7: 27,353,761 (GRCm39) |
D137G |
probably benign |
Het |
Ulk4 |
C |
T |
9: 121,092,734 (GRCm39) |
E168K |
possibly damaging |
Het |
Vps41 |
C |
A |
13: 19,026,438 (GRCm39) |
T512K |
possibly damaging |
Het |
Wdr49 |
T |
A |
3: 75,182,335 (GRCm39) |
N698I |
probably benign |
Het |
Zfp568 |
G |
A |
7: 29,722,150 (GRCm39) |
C365Y |
probably damaging |
Het |
Zfp663 |
A |
T |
2: 165,194,453 (GRCm39) |
C589S |
probably damaging |
Het |
Zfp971 |
A |
G |
2: 177,675,292 (GRCm39) |
K297R |
probably damaging |
Het |
Zkscan16 |
G |
T |
4: 58,951,843 (GRCm39) |
E173* |
probably null |
Het |
|
Other mutations in Usp9y |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
PIT4466001:Usp9y
|
UTSW |
Y |
1,432,197 (GRCm39) |
missense |
probably damaging |
0.96 |
R0288:Usp9y
|
UTSW |
Y |
1,333,606 (GRCm39) |
splice site |
probably benign |
|
R0365:Usp9y
|
UTSW |
Y |
1,364,732 (GRCm39) |
missense |
probably damaging |
1.00 |
R0386:Usp9y
|
UTSW |
Y |
1,316,933 (GRCm39) |
missense |
probably damaging |
1.00 |
R0395:Usp9y
|
UTSW |
Y |
1,340,053 (GRCm39) |
missense |
probably damaging |
1.00 |
R0518:Usp9y
|
UTSW |
Y |
1,307,880 (GRCm39) |
missense |
probably benign |
|
R0521:Usp9y
|
UTSW |
Y |
1,307,880 (GRCm39) |
missense |
probably benign |
|
R0530:Usp9y
|
UTSW |
Y |
1,333,600 (GRCm39) |
splice site |
probably benign |
|
R0759:Usp9y
|
UTSW |
Y |
1,299,097 (GRCm39) |
missense |
probably damaging |
0.99 |
R0849:Usp9y
|
UTSW |
Y |
1,394,002 (GRCm39) |
missense |
probably damaging |
1.00 |
R0932:Usp9y
|
UTSW |
Y |
1,315,930 (GRCm39) |
missense |
probably benign |
0.37 |
R1018:Usp9y
|
UTSW |
Y |
1,341,414 (GRCm39) |
splice site |
probably benign |
|
R1208:Usp9y
|
UTSW |
Y |
1,356,282 (GRCm39) |
missense |
probably benign |
|
R1208:Usp9y
|
UTSW |
Y |
1,356,282 (GRCm39) |
missense |
probably benign |
|
R1470:Usp9y
|
UTSW |
Y |
1,332,471 (GRCm39) |
missense |
probably benign |
0.19 |
R1470:Usp9y
|
UTSW |
Y |
1,332,471 (GRCm39) |
missense |
probably benign |
0.19 |
R1730:Usp9y
|
UTSW |
Y |
1,367,093 (GRCm39) |
missense |
probably benign |
0.18 |
R1743:Usp9y
|
UTSW |
Y |
1,316,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R1765:Usp9y
|
UTSW |
Y |
1,384,454 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1775:Usp9y
|
UTSW |
Y |
1,368,089 (GRCm39) |
missense |
probably damaging |
1.00 |
R1783:Usp9y
|
UTSW |
Y |
1,367,093 (GRCm39) |
missense |
probably benign |
0.18 |
R1889:Usp9y
|
UTSW |
Y |
1,448,829 (GRCm39) |
splice site |
probably null |
|
R1901:Usp9y
|
UTSW |
Y |
1,303,371 (GRCm39) |
critical splice donor site |
probably null |
|
R2081:Usp9y
|
UTSW |
Y |
1,381,277 (GRCm39) |
missense |
possibly damaging |
0.65 |
R2119:Usp9y
|
UTSW |
Y |
1,303,451 (GRCm39) |
missense |
probably benign |
0.00 |
R2357:Usp9y
|
UTSW |
Y |
1,394,050 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2873:Usp9y
|
UTSW |
Y |
1,310,502 (GRCm39) |
splice site |
probably benign |
|
R3938:Usp9y
|
UTSW |
Y |
1,313,741 (GRCm39) |
missense |
probably damaging |
0.97 |
R4323:Usp9y
|
UTSW |
Y |
1,434,407 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4385:Usp9y
|
UTSW |
Y |
1,304,756 (GRCm39) |
missense |
probably damaging |
1.00 |
R4407:Usp9y
|
UTSW |
Y |
1,336,375 (GRCm39) |
missense |
probably benign |
0.16 |
R4457:Usp9y
|
UTSW |
Y |
1,394,078 (GRCm39) |
missense |
possibly damaging |
0.62 |
R4747:Usp9y
|
UTSW |
Y |
1,391,284 (GRCm39) |
missense |
possibly damaging |
0.64 |
R4823:Usp9y
|
UTSW |
Y |
1,444,559 (GRCm39) |
missense |
probably damaging |
0.99 |
R4834:Usp9y
|
UTSW |
Y |
1,317,002 (GRCm39) |
missense |
probably benign |
0.32 |
R4872:Usp9y
|
UTSW |
Y |
1,307,920 (GRCm39) |
missense |
probably damaging |
1.00 |
R4911:Usp9y
|
UTSW |
Y |
1,308,041 (GRCm39) |
missense |
probably damaging |
0.96 |
R4915:Usp9y
|
UTSW |
Y |
1,316,735 (GRCm39) |
missense |
probably damaging |
0.99 |
R4962:Usp9y
|
UTSW |
Y |
1,384,336 (GRCm39) |
missense |
probably damaging |
1.00 |
R5378:Usp9y
|
UTSW |
Y |
1,315,928 (GRCm39) |
missense |
probably damaging |
0.99 |
R5422:Usp9y
|
UTSW |
Y |
1,314,676 (GRCm39) |
missense |
probably benign |
|
R5432:Usp9y
|
UTSW |
Y |
1,368,022 (GRCm39) |
splice site |
probably null |
|
R5442:Usp9y
|
UTSW |
Y |
1,336,467 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5469:Usp9y
|
UTSW |
Y |
1,364,714 (GRCm39) |
missense |
probably benign |
0.01 |
R5500:Usp9y
|
UTSW |
Y |
1,341,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R5729:Usp9y
|
UTSW |
Y |
1,381,339 (GRCm39) |
missense |
probably damaging |
0.97 |
R5891:Usp9y
|
UTSW |
Y |
1,341,535 (GRCm39) |
missense |
probably benign |
0.05 |
R5920:Usp9y
|
UTSW |
Y |
1,316,730 (GRCm39) |
missense |
probably damaging |
1.00 |
R5948:Usp9y
|
UTSW |
Y |
1,324,996 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6062:Usp9y
|
UTSW |
Y |
1,454,199 (GRCm39) |
missense |
probably benign |
0.28 |
R6265:Usp9y
|
UTSW |
Y |
1,446,843 (GRCm39) |
missense |
probably benign |
0.00 |
R6274:Usp9y
|
UTSW |
Y |
1,316,735 (GRCm39) |
missense |
probably damaging |
0.99 |
R6313:Usp9y
|
UTSW |
Y |
1,385,355 (GRCm39) |
missense |
probably benign |
|
R6330:Usp9y
|
UTSW |
Y |
1,340,123 (GRCm39) |
missense |
probably benign |
0.20 |
R6471:Usp9y
|
UTSW |
Y |
1,384,511 (GRCm39) |
missense |
probably damaging |
1.00 |
R6547:Usp9y
|
UTSW |
Y |
1,444,612 (GRCm39) |
missense |
probably damaging |
0.99 |
R6791:Usp9y
|
UTSW |
Y |
1,325,042 (GRCm39) |
splice site |
probably null |
|
R7194:Usp9y
|
UTSW |
Y |
1,304,672 (GRCm39) |
missense |
probably damaging |
1.00 |
R7341:Usp9y
|
UTSW |
Y |
1,315,759 (GRCm39) |
splice site |
probably null |
|
R7357:Usp9y
|
UTSW |
Y |
1,333,656 (GRCm39) |
missense |
possibly damaging |
0.58 |
R7374:Usp9y
|
UTSW |
Y |
1,381,305 (GRCm39) |
missense |
probably benign |
0.00 |
R7404:Usp9y
|
UTSW |
Y |
1,341,780 (GRCm39) |
missense |
probably benign |
0.35 |
R7481:Usp9y
|
UTSW |
Y |
1,432,180 (GRCm39) |
missense |
probably benign |
0.08 |
R7584:Usp9y
|
UTSW |
Y |
1,384,451 (GRCm39) |
missense |
probably damaging |
1.00 |
R7697:Usp9y
|
UTSW |
Y |
1,316,990 (GRCm39) |
missense |
possibly damaging |
0.72 |
R7713:Usp9y
|
UTSW |
Y |
1,304,411 (GRCm39) |
nonsense |
probably null |
|
R7900:Usp9y
|
UTSW |
Y |
1,384,354 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7964:Usp9y
|
UTSW |
Y |
1,316,914 (GRCm39) |
missense |
probably benign |
0.19 |
R8396:Usp9y
|
UTSW |
Y |
1,308,034 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8703:Usp9y
|
UTSW |
Y |
1,356,317 (GRCm39) |
missense |
probably damaging |
0.98 |
R8776:Usp9y
|
UTSW |
Y |
1,356,320 (GRCm39) |
missense |
probably benign |
0.15 |
R8776-TAIL:Usp9y
|
UTSW |
Y |
1,356,320 (GRCm39) |
missense |
probably benign |
0.15 |
R8855:Usp9y
|
UTSW |
Y |
1,395,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R8866:Usp9y
|
UTSW |
Y |
1,395,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R8952:Usp9y
|
UTSW |
Y |
1,332,662 (GRCm39) |
intron |
probably benign |
|
R9008:Usp9y
|
UTSW |
Y |
1,434,993 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9011:Usp9y
|
UTSW |
Y |
1,316,978 (GRCm39) |
missense |
probably benign |
0.00 |
R9076:Usp9y
|
UTSW |
Y |
1,383,354 (GRCm39) |
missense |
probably benign |
0.08 |
R9256:Usp9y
|
UTSW |
Y |
1,356,235 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9332:Usp9y
|
UTSW |
Y |
1,341,873 (GRCm39) |
missense |
probably damaging |
1.00 |
R9367:Usp9y
|
UTSW |
Y |
1,324,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R9382:Usp9y
|
UTSW |
Y |
1,364,776 (GRCm39) |
missense |
probably benign |
0.08 |
R9503:Usp9y
|
UTSW |
Y |
1,316,045 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9515:Usp9y
|
UTSW |
Y |
1,432,188 (GRCm39) |
missense |
probably benign |
0.28 |
R9792:Usp9y
|
UTSW |
Y |
1,364,679 (GRCm39) |
missense |
probably benign |
0.16 |
R9793:Usp9y
|
UTSW |
Y |
1,364,679 (GRCm39) |
missense |
probably benign |
0.16 |
R9795:Usp9y
|
UTSW |
Y |
1,364,679 (GRCm39) |
missense |
probably benign |
0.16 |
RF005:Usp9y
|
UTSW |
Y |
1,435,046 (GRCm39) |
missense |
probably benign |
0.43 |
|
Predicted Primers |
PCR Primer
(F):5'- TCATGTCACTGCTGCTGACT -3'
(R):5'- CCTCCATGTGTACTCTTTAGTTGGT -3'
Sequencing Primer
(F):5'- ATGCATCTGAACTGGACTGC -3'
(R):5'- TGGTTTAGTCCCTGGGAGCTC -3'
|
Posted On |
2019-11-26 |