Incidental Mutation 'R9332:Usp9y'
ID |
706963 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp9y
|
Ensembl Gene |
ENSMUSG00000069044 |
Gene Name |
ubiquitin specific peptidase 9, Y chromosome |
Synonyms |
Fafl2, Dffry |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R9332 (G1)
|
Quality Score |
221.999 |
Status
|
Not validated
|
Chromosome |
Y |
Chromosomal Location |
1298961-1459782 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 1341873 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 1331
(R1331W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000088727
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091188]
|
AlphaFold |
F8VPU6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091188
AA Change: R1331W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000088727 Gene: ENSMUSG00000069044 AA Change: R1331W
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 |
|
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 |
Ankrd55 |
T |
G |
13: 112,459,677 (GRCm39) |
D90E |
probably damaging |
Het |
Arid1b |
C |
A |
17: 5,045,584 (GRCm39) |
P124Q |
unknown |
Het |
Atxn2 |
C |
T |
5: 121,923,425 (GRCm39) |
P698L |
probably damaging |
Het |
Bend7 |
T |
C |
2: 4,757,531 (GRCm39) |
V191A |
probably benign |
Het |
Bltp1 |
G |
A |
3: 37,104,989 (GRCm39) |
D1485N |
|
Het |
C2cd4a |
T |
G |
9: 67,738,779 (GRCm39) |
H88P |
probably damaging |
Het |
Cacna1s |
C |
T |
1: 136,020,452 (GRCm39) |
Q830* |
probably null |
Het |
Camta1 |
T |
C |
4: 151,228,474 (GRCm39) |
E786G |
possibly damaging |
Het |
Caprin1 |
A |
G |
2: 103,603,390 (GRCm39) |
S443P |
probably benign |
Het |
Cass4 |
T |
G |
2: 172,269,806 (GRCm39) |
F629L |
probably benign |
Het |
Ccdc149 |
T |
A |
5: 52,562,399 (GRCm39) |
D209V |
probably damaging |
Het |
Ccdc150 |
T |
C |
1: 54,316,910 (GRCm39) |
V263A |
probably damaging |
Het |
Cfc1 |
C |
T |
1: 34,576,453 (GRCm39) |
R145C |
probably damaging |
Het |
Cnn1 |
C |
A |
9: 22,019,350 (GRCm39) |
D239E |
probably damaging |
Het |
Cobll1 |
C |
T |
2: 64,933,516 (GRCm39) |
S493N |
probably benign |
Het |
Cox20 |
A |
T |
1: 178,146,771 (GRCm39) |
K13* |
probably null |
Het |
Dclk1 |
G |
A |
3: 55,370,500 (GRCm39) |
S340N |
probably damaging |
Het |
Dennd2c |
T |
A |
3: 103,038,877 (GRCm39) |
D8E |
probably benign |
Het |
Dnajc10 |
A |
T |
2: 80,175,327 (GRCm39) |
K571N |
probably benign |
Het |
Dock7 |
T |
A |
4: 98,896,280 (GRCm39) |
I58F |
|
Het |
Dpy19l4 |
A |
G |
4: 11,304,298 (GRCm39) |
|
probably null |
Het |
Eef2k |
A |
G |
7: 120,483,918 (GRCm39) |
D218G |
probably benign |
Het |
Eya4 |
G |
T |
10: 22,989,845 (GRCm39) |
T504K |
probably damaging |
Het |
Fam222a |
T |
C |
5: 114,749,398 (GRCm39) |
I198T |
probably damaging |
Het |
Fbxw10 |
T |
A |
11: 62,748,585 (GRCm39) |
F404Y |
probably benign |
Het |
Fbxw24 |
A |
T |
9: 109,452,681 (GRCm39) |
Y105N |
probably damaging |
Het |
Fzd10 |
T |
G |
5: 128,678,316 (GRCm39) |
L12R |
possibly damaging |
Het |
Gm14443 |
A |
G |
2: 175,017,610 (GRCm39) |
|
probably benign |
Het |
Gm21028 |
A |
T |
7: 42,227,904 (GRCm39) |
C37S |
probably damaging |
Het |
Gpr179 |
G |
T |
11: 97,229,551 (GRCm39) |
A868E |
probably damaging |
Het |
Greb1l |
T |
A |
18: 10,532,796 (GRCm39) |
Y897N |
possibly damaging |
Het |
Grid1 |
A |
T |
14: 35,045,360 (GRCm39) |
Y401F |
probably benign |
Het |
Heatr5a |
G |
A |
12: 51,946,068 (GRCm39) |
T1181I |
probably benign |
Het |
Herc4 |
G |
A |
10: 63,144,125 (GRCm39) |
V753I |
probably damaging |
Het |
Htra1 |
A |
T |
7: 130,563,851 (GRCm39) |
K241* |
probably null |
Het |
Kat6b |
A |
G |
14: 21,720,093 (GRCm39) |
I1482V |
probably benign |
Het |
Kif19a |
G |
T |
11: 114,680,033 (GRCm39) |
R790L |
possibly damaging |
Het |
Lmf2 |
G |
A |
15: 89,239,577 (GRCm39) |
L26F |
probably damaging |
Het |
Lpcat1 |
T |
C |
13: 73,659,462 (GRCm39) |
L408S |
probably damaging |
Het |
Lrrc69 |
T |
A |
4: 14,774,987 (GRCm39) |
R94W |
probably damaging |
Het |
Map4 |
A |
G |
9: 109,864,223 (GRCm39) |
T483A |
probably benign |
Het |
Mettl3 |
C |
A |
14: 52,534,125 (GRCm39) |
C483F |
probably damaging |
Het |
Myh13 |
A |
G |
11: 67,254,109 (GRCm39) |
D1543G |
possibly damaging |
Het |
Myh2 |
G |
A |
11: 67,070,209 (GRCm39) |
V414I |
probably damaging |
Het |
Myh7b |
C |
T |
2: 155,470,722 (GRCm39) |
R1057C |
probably damaging |
Het |
Myo9b |
A |
G |
8: 71,812,246 (GRCm39) |
S2006G |
probably benign |
Het |
Nelfcd |
A |
G |
2: 174,264,978 (GRCm39) |
K239R |
probably benign |
Het |
Nlrp4a |
T |
C |
7: 26,159,077 (GRCm39) |
S786P |
probably damaging |
Het |
Or5g23 |
T |
A |
2: 85,438,331 (GRCm39) |
K308* |
probably null |
Het |
Or6c205 |
A |
G |
10: 129,086,972 (GRCm39) |
T190A |
probably damaging |
Het |
Pdzrn4 |
G |
T |
15: 92,295,216 (GRCm39) |
V141L |
probably benign |
Het |
Phip |
G |
T |
9: 82,757,412 (GRCm39) |
R1587S |
probably damaging |
Het |
Plce1 |
A |
G |
19: 38,726,377 (GRCm39) |
E1448G |
probably damaging |
Het |
Plrg1 |
T |
C |
3: 82,976,308 (GRCm39) |
S326P |
possibly damaging |
Het |
Pom121l2 |
T |
A |
13: 22,165,852 (GRCm39) |
V41E |
probably damaging |
Het |
Pramel17 |
C |
T |
4: 101,695,144 (GRCm39) |
V56M |
probably damaging |
Het |
Preb |
G |
T |
5: 31,113,673 (GRCm39) |
S311* |
probably null |
Het |
Prss33 |
T |
A |
17: 24,053,723 (GRCm39) |
D118V |
probably damaging |
Het |
Pum1 |
C |
A |
4: 130,499,209 (GRCm39) |
Y1008* |
probably null |
Het |
Rassf2 |
G |
A |
2: 131,846,326 (GRCm39) |
R144C |
probably damaging |
Het |
Rnf123 |
A |
T |
9: 107,944,704 (GRCm39) |
M429K |
probably benign |
Het |
Rtl1 |
T |
A |
12: 109,557,291 (GRCm39) |
H1516L |
probably benign |
Het |
Scyl3 |
T |
A |
1: 163,764,007 (GRCm39) |
N124K |
probably damaging |
Het |
Sec24b |
A |
G |
3: 129,801,220 (GRCm39) |
S488P |
probably benign |
Het |
Shc4 |
T |
A |
2: 125,520,618 (GRCm39) |
D277V |
probably damaging |
Het |
Sorl1 |
T |
A |
9: 41,912,814 (GRCm39) |
D1389V |
probably damaging |
Het |
Srcap |
T |
A |
7: 127,158,812 (GRCm39) |
I2896N |
unknown |
Het |
Steap3 |
T |
A |
1: 120,155,564 (GRCm39) |
Y465F |
probably benign |
Het |
Tecta |
C |
A |
9: 42,284,193 (GRCm39) |
C964F |
probably damaging |
Het |
Thap1 |
AGCAGCATCTGCTCG |
AG |
8: 26,650,882 (GRCm39) |
|
probably null |
Het |
Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
Tmem178b |
G |
A |
6: 39,981,181 (GRCm39) |
W72* |
probably null |
Het |
Tmem235 |
T |
G |
11: 117,751,665 (GRCm39) |
Y30D |
probably damaging |
Het |
Tpst1 |
C |
A |
5: 130,163,301 (GRCm39) |
T366K |
probably benign |
Het |
Trdv2-1 |
C |
A |
14: 54,183,848 (GRCm39) |
P27T |
probably benign |
Het |
Trim37 |
G |
T |
11: 87,058,328 (GRCm39) |
L335F |
possibly damaging |
Het |
Vmn1r1 |
T |
G |
1: 181,985,002 (GRCm39) |
H221P |
probably damaging |
Het |
Vmn2r6 |
A |
T |
3: 64,454,671 (GRCm39) |
S543T |
probably benign |
Het |
Wdpcp |
C |
T |
11: 21,661,522 (GRCm39) |
P265S |
probably benign |
Het |
Wdr64 |
T |
C |
1: 175,599,871 (GRCm39) |
L566P |
possibly damaging |
Het |
Zfp248 |
A |
G |
6: 118,405,891 (GRCm39) |
I566T |
possibly damaging |
Het |
Zfp595 |
T |
A |
13: 67,465,463 (GRCm39) |
I270F |
probably damaging |
Het |
Zfp715 |
A |
G |
7: 42,948,847 (GRCm39) |
L371P |
probably damaging |
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 |
|
R7790:Usp9y
|
UTSW |
Y |
1,444,573 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- GTTAGCTGCACCCTGAAATATAAAGAC -3'
(R):5'- TTTGGGGATAGCATTTGAAACG -3'
Sequencing Primer
(F):5'- GTGCTCAGTACTGATTTAACTGTC -3'
(R):5'- TGGGGATAGCATTTGAAACGTAAATG -3'
|
Posted On |
2022-04-18 |