Incidental Mutation 'R0518:Usp9y'
ID |
48359 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp9y
|
Ensembl Gene |
ENSMUSG00000069044 |
Gene Name |
ubiquitin specific peptidase 9, Y chromosome |
Synonyms |
Fafl2, Dffry |
MMRRC Submission |
038711-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R0518 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
Y |
Chromosomal Location |
1298961-1459782 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 1307880 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 2319
(C2319S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000088727
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091188]
|
AlphaFold |
F8VPU6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000091188
AA Change: C2319S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000088727 Gene: ENSMUSG00000069044 AA Change: C2319S
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000104605
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
A |
G |
11: 84,181,112 (GRCm39) |
|
probably null |
Het |
Acsbg3 |
T |
A |
17: 57,192,169 (GRCm39) |
Y577* |
probably null |
Het |
Acsm5 |
T |
C |
7: 119,135,023 (GRCm39) |
V327A |
possibly damaging |
Het |
Agt |
C |
A |
8: 125,283,839 (GRCm39) |
E427* |
probably null |
Het |
Akr1c14 |
T |
C |
13: 4,131,016 (GRCm39) |
L236S |
probably damaging |
Het |
Ammecr1l |
C |
T |
18: 31,904,954 (GRCm39) |
S65L |
probably benign |
Het |
Ankrd33b |
T |
C |
15: 31,367,432 (GRCm39) |
D36G |
probably damaging |
Het |
Ano8 |
A |
T |
8: 71,931,902 (GRCm39) |
C766S |
probably benign |
Het |
Arhgef16 |
G |
T |
4: 154,375,491 (GRCm39) |
P168T |
probably damaging |
Het |
Asic1 |
C |
T |
15: 99,596,700 (GRCm39) |
R499C |
probably damaging |
Het |
Atpsckmt |
T |
G |
15: 31,606,103 (GRCm39) |
S20R |
probably benign |
Het |
Bank1 |
C |
T |
3: 135,919,703 (GRCm39) |
C364Y |
probably damaging |
Het |
Bmerb1 |
T |
A |
16: 13,804,676 (GRCm39) |
S8T |
possibly damaging |
Het |
Cacna1s |
C |
A |
1: 136,004,597 (GRCm39) |
D132E |
probably benign |
Het |
Capn5 |
C |
T |
7: 97,782,089 (GRCm39) |
R217Q |
probably damaging |
Het |
Clasrp |
A |
G |
7: 19,322,528 (GRCm39) |
I284T |
probably benign |
Het |
Coa3 |
T |
A |
11: 101,169,716 (GRCm39) |
K13M |
probably damaging |
Het |
Col13a1 |
A |
T |
10: 61,698,525 (GRCm39) |
M512K |
unknown |
Het |
Colgalt2 |
G |
T |
1: 152,384,312 (GRCm39) |
A551S |
possibly damaging |
Het |
Crhbp |
C |
A |
13: 95,580,403 (GRCm39) |
|
probably null |
Het |
Cryba2 |
T |
C |
1: 74,929,284 (GRCm39) |
Y153C |
possibly damaging |
Het |
Cryzl2 |
T |
C |
1: 157,292,000 (GRCm39) |
V93A |
probably damaging |
Het |
Ctsl |
G |
A |
13: 64,513,032 (GRCm39) |
L297F |
possibly damaging |
Het |
Cyp2r1 |
T |
G |
7: 114,152,135 (GRCm39) |
H274P |
probably benign |
Het |
Ddx4 |
A |
T |
13: 112,761,313 (GRCm39) |
|
probably null |
Het |
Dnai4 |
A |
C |
4: 102,921,727 (GRCm39) |
Y464* |
probably null |
Het |
Dnd1 |
A |
G |
18: 36,897,096 (GRCm39) |
V350A |
possibly damaging |
Het |
Dsg1b |
A |
T |
18: 20,521,221 (GRCm39) |
Q26L |
probably benign |
Het |
Fam20b |
C |
A |
1: 156,515,026 (GRCm39) |
V280F |
possibly damaging |
Het |
Foxb2 |
G |
T |
19: 16,849,820 (GRCm39) |
C395* |
probably null |
Het |
Glb1 |
ACCC |
ACC |
9: 114,250,812 (GRCm39) |
|
probably null |
Het |
Gm9930 |
A |
T |
10: 9,410,547 (GRCm39) |
|
noncoding transcript |
Het |
Hdac7 |
G |
A |
15: 97,704,380 (GRCm39) |
Q497* |
probably null |
Het |
Hk3 |
C |
T |
13: 55,162,239 (GRCm39) |
|
probably null |
Het |
Hsd3b7 |
A |
G |
7: 127,402,251 (GRCm39) |
T330A |
probably benign |
Het |
Il20ra |
A |
T |
10: 19,635,388 (GRCm39) |
Q543L |
probably damaging |
Het |
Itk |
T |
A |
11: 46,251,115 (GRCm39) |
D163V |
probably damaging |
Het |
Kcnu1 |
T |
G |
8: 26,400,916 (GRCm39) |
L688R |
probably damaging |
Het |
Kng1 |
G |
A |
16: 22,879,232 (GRCm39) |
A45T |
possibly damaging |
Het |
Kti12 |
T |
A |
4: 108,705,776 (GRCm39) |
V230E |
possibly damaging |
Het |
Lhfpl7 |
T |
A |
5: 113,383,873 (GRCm39) |
L97* |
probably null |
Het |
Mgat5 |
T |
A |
1: 127,312,584 (GRCm39) |
I241N |
probably damaging |
Het |
Mkln1 |
A |
G |
6: 31,445,067 (GRCm39) |
N321S |
probably benign |
Het |
Mllt10 |
T |
G |
2: 18,076,017 (GRCm39) |
|
probably null |
Het |
Ms4a1 |
C |
A |
19: 11,236,043 (GRCm39) |
|
probably null |
Het |
Ngly1 |
C |
T |
14: 16,290,774 (GRCm38) |
Q419* |
probably null |
Het |
Nipsnap3b |
T |
A |
4: 53,021,343 (GRCm39) |
F243I |
probably damaging |
Het |
Ogfod1 |
T |
A |
8: 94,781,876 (GRCm39) |
|
probably null |
Het |
Or10a2 |
T |
A |
7: 106,673,965 (GRCm39) |
L310Q |
possibly damaging |
Het |
Or2y11 |
C |
T |
11: 49,443,291 (GRCm39) |
T239M |
probably damaging |
Het |
Or51v8 |
T |
A |
7: 103,319,696 (GRCm39) |
I181F |
possibly damaging |
Het |
Or8c20 |
A |
C |
9: 38,260,499 (GRCm39) |
N40T |
probably damaging |
Het |
P2ry14 |
T |
A |
3: 59,022,625 (GRCm39) |
E287D |
probably damaging |
Het |
Pank4 |
A |
T |
4: 155,061,082 (GRCm39) |
R510S |
possibly damaging |
Het |
Pcsk6 |
T |
A |
7: 65,629,915 (GRCm39) |
V347E |
possibly damaging |
Het |
Peg3 |
T |
C |
7: 6,714,427 (GRCm39) |
E265G |
probably damaging |
Het |
Pik3c2b |
C |
A |
1: 133,033,730 (GRCm39) |
P1578H |
probably damaging |
Het |
Pkd1 |
A |
G |
17: 24,814,193 (GRCm39) |
S4188G |
probably benign |
Het |
Ppp1r26 |
A |
G |
2: 28,342,314 (GRCm39) |
D648G |
probably damaging |
Het |
Ptprs |
A |
G |
17: 56,726,621 (GRCm39) |
|
probably null |
Het |
Rab24 |
A |
T |
13: 55,468,738 (GRCm39) |
|
probably null |
Het |
Rap1gap2 |
A |
T |
11: 74,332,592 (GRCm39) |
M71K |
probably damaging |
Het |
Rergl |
T |
G |
6: 139,473,524 (GRCm39) |
K42T |
probably damaging |
Het |
Rigi |
C |
T |
4: 40,216,354 (GRCm39) |
|
probably null |
Het |
Septin5 |
T |
C |
16: 18,443,647 (GRCm39) |
T92A |
probably benign |
Het |
Ski |
A |
G |
4: 155,243,743 (GRCm39) |
|
probably null |
Het |
Slc17a8 |
A |
G |
10: 89,412,192 (GRCm39) |
S414P |
probably benign |
Het |
Slc25a36 |
A |
T |
9: 96,979,228 (GRCm39) |
I71N |
probably damaging |
Het |
Syne2 |
A |
C |
12: 76,155,636 (GRCm39) |
|
probably null |
Het |
Tdrd5 |
C |
A |
1: 156,090,511 (GRCm39) |
W845L |
probably damaging |
Het |
Tfb2m |
T |
C |
1: 179,365,389 (GRCm39) |
I192V |
possibly damaging |
Het |
Tll1 |
T |
G |
8: 64,551,505 (GRCm39) |
D292A |
probably damaging |
Het |
Trank1 |
A |
C |
9: 111,162,876 (GRCm39) |
D45A |
probably damaging |
Het |
Trim17 |
T |
A |
11: 58,859,320 (GRCm39) |
V178E |
probably damaging |
Het |
Trim9 |
A |
T |
12: 70,393,359 (GRCm39) |
L195Q |
probably damaging |
Het |
Ttc27 |
A |
T |
17: 75,163,544 (GRCm39) |
R717S |
possibly damaging |
Het |
Upk2 |
G |
T |
9: 44,365,418 (GRCm39) |
P50Q |
probably damaging |
Het |
Vmn1r4 |
G |
T |
6: 56,933,883 (GRCm39) |
C129F |
probably benign |
Het |
Vmn2r100 |
A |
T |
17: 19,742,178 (GRCm39) |
D184V |
probably damaging |
Het |
Xpnpep3 |
T |
G |
15: 81,311,693 (GRCm39) |
I133S |
possibly damaging |
Het |
Zfp628 |
A |
T |
7: 4,922,939 (GRCm39) |
Q387L |
probably damaging |
Het |
Zic2 |
CCCACCACCACCATCACCACCACCACC |
CCCACCATCACCACCACCACC |
14: 122,713,776 (GRCm39) |
|
probably benign |
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 |
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 |
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'- AGCTTGCCAGGAGTCCTCAAACAG -3'
(R):5'- AGACAAGATTAGCATGACCCTTGCAC -3'
Sequencing Primer
(F):5'- GGAGTCCTCAAACAGAATAATTTGC -3'
(R):5'- tgacccttgcacaaaatgac -3'
|
Posted On |
2013-06-12 |