Incidental Mutation 'R4834:Usp9y'
ID |
373121 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp9y
|
Ensembl Gene |
ENSMUSG00000069044 |
Gene Name |
ubiquitin specific peptidase 9, Y chromosome |
Synonyms |
Fafl2, Dffry |
MMRRC Submission |
041977-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R4834 (G1)
|
Quality Score |
222 |
Status
|
Not validated
|
Chromosome |
Y |
Chromosomal Location |
1298961-1459782 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 1317002 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 1849
(I1849T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000088727
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091188]
|
AlphaFold |
F8VPU6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000091188
AA Change: I1849T
PolyPhen 2
Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000088727 Gene: ENSMUSG00000069044 AA Change: I1849T
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: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
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: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930550C14Rik |
A |
C |
9: 53,343,787 (GRCm39) |
D146A |
possibly damaging |
Het |
Acsl5 |
C |
A |
19: 55,268,991 (GRCm39) |
D217E |
probably benign |
Het |
Acss3 |
A |
G |
10: 106,920,666 (GRCm39) |
|
probably null |
Het |
Adam24 |
G |
A |
8: 41,132,738 (GRCm39) |
G69R |
probably damaging |
Het |
Adgrg7 |
A |
T |
16: 56,553,232 (GRCm39) |
W622R |
probably damaging |
Het |
Ajm1 |
T |
C |
2: 25,469,530 (GRCm39) |
E127G |
possibly damaging |
Het |
Ankrd26 |
T |
C |
6: 118,500,679 (GRCm39) |
M931V |
probably benign |
Het |
Ano8 |
C |
T |
8: 71,936,939 (GRCm39) |
V187M |
probably damaging |
Het |
Ap3d1 |
A |
T |
10: 80,555,560 (GRCm39) |
C348S |
probably damaging |
Het |
Apob |
T |
C |
12: 8,064,101 (GRCm39) |
V376A |
possibly damaging |
Het |
Arhgap21 |
A |
T |
2: 20,870,130 (GRCm39) |
D925E |
probably damaging |
Het |
Bmp6 |
T |
A |
13: 38,669,817 (GRCm39) |
V367E |
probably damaging |
Het |
Bmp8b |
A |
T |
4: 123,016,843 (GRCm39) |
Q348L |
probably damaging |
Het |
Ccr1l1 |
T |
C |
9: 123,777,742 (GRCm39) |
K235R |
probably damaging |
Het |
Cd59a |
G |
A |
2: 103,944,431 (GRCm39) |
C93Y |
probably damaging |
Het |
Clstn3 |
C |
T |
6: 124,408,912 (GRCm39) |
|
probably null |
Het |
Col4a2 |
C |
A |
8: 11,456,836 (GRCm39) |
Y236* |
probably null |
Het |
Csn1s2a |
T |
C |
5: 87,929,637 (GRCm39) |
F79L |
probably benign |
Het |
Cyp4a10 |
A |
C |
4: 115,383,005 (GRCm39) |
Y360S |
probably damaging |
Het |
Cyp4a29 |
A |
T |
4: 115,106,867 (GRCm39) |
I175F |
probably benign |
Het |
Dck |
T |
A |
5: 88,920,595 (GRCm39) |
I105N |
probably damaging |
Het |
Dicer1 |
A |
G |
12: 104,662,850 (GRCm39) |
L1577P |
probably benign |
Het |
Disp2 |
G |
A |
2: 118,622,985 (GRCm39) |
S1239N |
probably benign |
Het |
Dop1b |
T |
C |
16: 93,536,892 (GRCm39) |
M1T |
probably null |
Het |
E130308A19Rik |
T |
A |
4: 59,690,317 (GRCm39) |
C50* |
probably null |
Het |
Elf2 |
A |
T |
3: 51,184,642 (GRCm39) |
D14E |
probably damaging |
Het |
Epm2aip1 |
C |
T |
9: 111,102,262 (GRCm39) |
R412C |
probably benign |
Het |
Foxm1 |
T |
C |
6: 128,346,410 (GRCm39) |
F114L |
probably damaging |
Het |
Glcci1 |
C |
T |
6: 8,582,601 (GRCm39) |
R134* |
probably null |
Het |
Gm57859 |
C |
A |
11: 113,579,805 (GRCm39) |
T400K |
probably benign |
Het |
Gspt1 |
T |
C |
16: 11,040,581 (GRCm39) |
K576E |
probably damaging |
Het |
H2-M10.3 |
T |
C |
17: 36,678,286 (GRCm39) |
K180E |
probably benign |
Het |
Hecw2 |
A |
T |
1: 53,869,911 (GRCm39) |
V1439E |
probably damaging |
Het |
Hr |
T |
C |
14: 70,797,362 (GRCm39) |
S561P |
probably damaging |
Het |
Hunk |
T |
C |
16: 90,293,086 (GRCm39) |
V456A |
probably benign |
Het |
Il1rap |
T |
A |
16: 26,495,685 (GRCm39) |
D97E |
probably damaging |
Het |
Inpp5d |
T |
G |
1: 87,625,245 (GRCm39) |
V474G |
possibly damaging |
Het |
Itsn1 |
T |
A |
16: 91,703,677 (GRCm39) |
L87* |
probably null |
Het |
Izumo3 |
T |
C |
4: 92,035,208 (GRCm39) |
D3G |
possibly damaging |
Het |
Kifc2 |
T |
A |
15: 76,545,511 (GRCm39) |
M1K |
probably null |
Het |
Krt8 |
T |
A |
15: 101,907,256 (GRCm39) |
I276F |
probably damaging |
Het |
Ksr2 |
C |
A |
5: 117,806,392 (GRCm39) |
Q402K |
probably benign |
Het |
Lama2 |
A |
G |
10: 26,882,745 (GRCm39) |
V2606A |
probably benign |
Het |
Met |
A |
G |
6: 17,491,412 (GRCm39) |
H58R |
probably damaging |
Het |
Mier3 |
C |
T |
13: 111,851,643 (GRCm39) |
Q542* |
probably null |
Het |
Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
Msl3l2 |
C |
T |
10: 55,991,655 (GRCm39) |
R127C |
probably damaging |
Het |
Naglu |
T |
C |
11: 100,967,814 (GRCm39) |
L588P |
probably benign |
Het |
Nf1 |
T |
C |
11: 79,437,123 (GRCm39) |
L2013P |
probably damaging |
Het |
Nid1 |
A |
G |
13: 13,683,408 (GRCm39) |
Y1162C |
probably damaging |
Het |
Nlrc5 |
G |
T |
8: 95,232,113 (GRCm39) |
R1313L |
probably benign |
Het |
Nrg1 |
A |
G |
8: 32,407,747 (GRCm39) |
V162A |
probably benign |
Het |
Nup188 |
T |
C |
2: 30,229,596 (GRCm39) |
L1310P |
probably damaging |
Het |
Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
Or14a259 |
G |
A |
7: 86,012,952 (GRCm39) |
L198F |
probably benign |
Het |
Or4f6 |
A |
G |
2: 111,839,276 (GRCm39) |
L85P |
probably damaging |
Het |
Or5ae1 |
T |
G |
7: 84,565,491 (GRCm39) |
F168C |
probably damaging |
Het |
Pbk |
T |
A |
14: 66,052,733 (GRCm39) |
L192* |
probably null |
Het |
Pcdhga4 |
T |
C |
18: 37,818,490 (GRCm39) |
I13T |
probably benign |
Het |
Peg10 |
A |
T |
6: 4,754,294 (GRCm39) |
|
probably benign |
Het |
Polq |
T |
A |
16: 36,848,176 (GRCm39) |
V261D |
probably damaging |
Het |
Ppp2r5b |
T |
A |
19: 6,280,540 (GRCm39) |
T313S |
possibly damaging |
Het |
Ptk2 |
A |
T |
15: 73,087,945 (GRCm39) |
|
probably null |
Het |
Ptpn7 |
T |
A |
1: 135,065,618 (GRCm39) |
|
probably null |
Het |
Rab11fip1 |
A |
G |
8: 27,643,111 (GRCm39) |
S563P |
probably damaging |
Het |
Scn1a |
A |
T |
2: 66,158,866 (GRCm39) |
C351* |
probably null |
Het |
Slc10a5 |
A |
T |
3: 10,399,859 (GRCm39) |
V267D |
probably damaging |
Het |
Slc37a2 |
T |
A |
9: 37,146,404 (GRCm39) |
M368L |
probably damaging |
Het |
Slc49a4 |
T |
A |
16: 35,555,945 (GRCm39) |
T172S |
probably benign |
Het |
Slc6a20b |
T |
A |
9: 123,425,113 (GRCm39) |
T585S |
probably benign |
Het |
Srcap |
T |
C |
7: 127,156,782 (GRCm39) |
|
probably null |
Het |
Tbx18 |
T |
C |
9: 87,609,502 (GRCm39) |
M178V |
possibly damaging |
Het |
Tmprss11b |
C |
A |
5: 86,811,418 (GRCm39) |
C172F |
probably damaging |
Het |
Traf5 |
T |
C |
1: 191,751,198 (GRCm39) |
Q91R |
probably benign |
Het |
Trappc8 |
A |
T |
18: 20,958,122 (GRCm39) |
Y1248N |
probably damaging |
Het |
Trpa1 |
A |
G |
1: 14,966,747 (GRCm39) |
L539S |
possibly damaging |
Het |
Tyrp1 |
T |
A |
4: 80,764,833 (GRCm39) |
Y3* |
probably null |
Het |
Ubr7 |
A |
T |
12: 102,727,761 (GRCm39) |
K94N |
probably damaging |
Het |
Ugt2a1 |
C |
A |
5: 87,633,894 (GRCm39) |
|
probably null |
Het |
Unc50 |
T |
A |
1: 37,471,710 (GRCm39) |
I120K |
probably damaging |
Het |
Usp28 |
T |
C |
9: 48,912,836 (GRCm39) |
V29A |
probably damaging |
Het |
Vmn2r102 |
T |
A |
17: 19,898,203 (GRCm39) |
V406E |
probably damaging |
Het |
Vmn2r4 |
G |
A |
3: 64,317,484 (GRCm39) |
R85W |
probably benign |
Het |
Xirp2 |
A |
G |
2: 67,346,750 (GRCm39) |
D2997G |
probably benign |
Het |
Zc2hc1c |
A |
T |
12: 85,336,982 (GRCm39) |
E213V |
probably damaging |
Het |
Zfp420 |
C |
T |
7: 29,573,759 (GRCm39) |
|
probably benign |
Het |
Zfp641 |
C |
T |
15: 98,191,585 (GRCm39) |
E34K |
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 |
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'- CGCCTGTATGACATACGCTTC -3'
(R):5'- AGTTACTGGAAAGTGTCTCAGG -3'
Sequencing Primer
(F):5'- CTGTATGACATACGCTTCATCATATG -3'
(R):5'- GTCTCAGGTAATAAAAATGACCTCC -3'
|
Posted On |
2016-03-01 |