Incidental Mutation 'R7357:Usp9y'
| ID |
571062 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp9y
|
| Ensembl Gene |
ENSMUSG00000069044 |
| Gene Name |
ubiquitin specific peptidase 9, Y chromosome |
| Synonyms |
Fafl2, Dffry |
| MMRRC Submission |
045443-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R7357 (G1)
|
| Quality Score |
221.999 |
|
Status
|
Validated
|
| Chromosome |
Y |
| Chromosomal Location |
1298961-1459782 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 1333656 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1596
(D1596E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088727
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091188]
|
| AlphaFold |
F8VPU6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091188
AA Change: D1596E
PolyPhen 2
Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000088727
Gene: ENSMUSG00000069044
AA Change: D1596E
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
97% (64/66) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430550D23Rik |
A |
T |
2: 155,845,787 (GRCm39) |
H23Q |
unknown |
Het |
| 9530068E07Rik |
A |
T |
11: 52,297,821 (GRCm39) |
K233I |
probably damaging |
Het |
| Aldh1l2 |
T |
C |
10: 83,350,408 (GRCm39) |
M320V |
possibly damaging |
Het |
| C2cd3 |
A |
G |
7: 100,079,310 (GRCm39) |
N838S |
|
Het |
| Cacna1s |
T |
C |
1: 135,998,759 (GRCm39) |
F218S |
probably damaging |
Het |
| Carmil3 |
G |
T |
14: 55,728,590 (GRCm39) |
|
probably benign |
Het |
| Cd300a |
A |
T |
11: 114,784,153 (GRCm39) |
T54S |
probably benign |
Het |
| Celf3 |
G |
A |
3: 94,387,637 (GRCm39) |
E70K |
probably damaging |
Het |
| Celsr1 |
A |
C |
15: 85,914,715 (GRCm39) |
M1086R |
probably benign |
Het |
| Ces2f |
G |
A |
8: 105,676,595 (GRCm39) |
M96I |
probably benign |
Het |
| Chrdl2 |
G |
A |
7: 99,678,414 (GRCm39) |
V329I |
probably benign |
Het |
| Ctc1 |
T |
A |
11: 68,925,568 (GRCm39) |
L1035Q |
probably benign |
Het |
| Dbi |
A |
G |
1: 120,047,623 (GRCm39) |
|
probably null |
Het |
| Dock3 |
A |
G |
9: 106,882,568 (GRCm39) |
I405T |
probably benign |
Het |
| Dpp4 |
A |
T |
2: 62,217,421 (GRCm39) |
W59R |
probably benign |
Het |
| Dsg3 |
T |
A |
18: 20,672,840 (GRCm39) |
I837N |
probably damaging |
Het |
| Fbxw15 |
A |
G |
9: 109,387,308 (GRCm39) |
V229A |
probably benign |
Het |
| Fermt3 |
T |
C |
19: 6,980,211 (GRCm39) |
T395A |
probably benign |
Het |
| Focad |
A |
T |
4: 88,147,572 (GRCm39) |
I404F |
probably benign |
Het |
| Gm8104 |
T |
C |
14: 42,959,068 (GRCm39) |
I86T |
probably damaging |
Het |
| Gm9857 |
A |
C |
3: 108,847,478 (GRCm39) |
L95R |
unknown |
Het |
| Hoxa1 |
A |
T |
6: 52,133,929 (GRCm39) |
S266T |
probably benign |
Het |
| Kif19b |
A |
G |
5: 140,480,806 (GRCm39) |
R979G |
possibly damaging |
Het |
| Leng8 |
T |
A |
7: 4,147,932 (GRCm39) |
Y625* |
probably null |
Het |
| Mast3 |
A |
G |
8: 71,237,503 (GRCm39) |
V557A |
probably damaging |
Het |
| Morc1 |
T |
C |
16: 48,442,953 (GRCm39) |
F813L |
probably benign |
Het |
| Ntf3 |
T |
A |
6: 126,078,961 (GRCm39) |
I182F |
probably damaging |
Het |
| Nup153 |
G |
T |
13: 46,870,642 (GRCm39) |
A91E |
probably benign |
Het |
| Or13l2 |
G |
C |
3: 97,317,971 (GRCm39) |
N175K |
probably damaging |
Het |
| Or52h1 |
A |
T |
7: 103,828,978 (GRCm39) |
D212E |
probably damaging |
Het |
| Pamr1 |
G |
A |
2: 102,417,049 (GRCm39) |
W120* |
probably null |
Het |
| Pcsk1 |
A |
G |
13: 75,274,079 (GRCm39) |
N436S |
probably damaging |
Het |
| Pde4dip |
T |
C |
3: 97,622,857 (GRCm39) |
K1451E |
probably benign |
Het |
| Pebp4 |
G |
A |
14: 70,285,864 (GRCm39) |
V176I |
possibly damaging |
Het |
| Phgdh |
G |
A |
3: 98,247,138 (GRCm39) |
A4V |
probably benign |
Het |
| Pik3c2g |
T |
C |
6: 139,610,791 (GRCm39) |
|
probably null |
Het |
| Ppic |
T |
C |
18: 53,544,139 (GRCm39) |
Y82C |
probably damaging |
Het |
| Ppip5k2 |
A |
G |
1: 97,686,941 (GRCm39) |
V94A |
possibly damaging |
Het |
| Ppp1r9b |
T |
C |
11: 94,895,424 (GRCm39) |
V704A |
probably benign |
Het |
| Pramel6 |
G |
T |
2: 87,340,856 (GRCm39) |
R396L |
not run |
Het |
| Prss48 |
A |
T |
3: 85,904,528 (GRCm39) |
D223E |
probably damaging |
Het |
| Psd3 |
T |
C |
8: 68,574,149 (GRCm39) |
K11E |
probably benign |
Het |
| Rabgap1l |
T |
C |
1: 160,169,608 (GRCm39) |
K780E |
probably damaging |
Het |
| Retreg1 |
A |
T |
15: 25,972,029 (GRCm39) |
D323V |
probably damaging |
Het |
| Samd11 |
A |
T |
4: 156,340,067 (GRCm39) |
|
probably null |
Het |
| Sec14l3 |
T |
A |
11: 4,020,127 (GRCm39) |
F188Y |
probably benign |
Het |
| Serpina5 |
A |
T |
12: 104,069,639 (GRCm39) |
T284S |
possibly damaging |
Het |
| Setx |
A |
G |
2: 29,020,313 (GRCm39) |
D100G |
probably benign |
Het |
| Sis |
A |
T |
3: 72,832,404 (GRCm39) |
V1035D |
probably damaging |
Het |
| Slco4a1 |
A |
G |
2: 180,113,930 (GRCm39) |
I456V |
probably benign |
Het |
| Snx14 |
A |
T |
9: 88,286,369 (GRCm39) |
C393S |
possibly damaging |
Het |
| Stil |
T |
C |
4: 114,871,423 (GRCm39) |
|
probably null |
Het |
| Sult6b1 |
A |
G |
17: 79,202,059 (GRCm39) |
S148P |
probably damaging |
Het |
| Sycp2 |
G |
T |
2: 178,045,597 (GRCm39) |
|
probably null |
Het |
| Tesmin |
T |
C |
19: 3,447,042 (GRCm39) |
I273T |
probably benign |
Het |
| Tmem39a |
T |
A |
16: 38,406,592 (GRCm39) |
Y310N |
probably damaging |
Het |
| Trp53bp1 |
A |
T |
2: 121,041,781 (GRCm39) |
D1258E |
probably damaging |
Het |
| Ttc12 |
A |
C |
9: 49,349,687 (GRCm39) |
D703E |
probably benign |
Het |
| Unc13c |
TATAA |
TATAATAA |
9: 73,840,810 (GRCm39) |
|
probably benign |
Het |
| Unc13c |
ATA |
ATAGTA |
9: 73,840,811 (GRCm39) |
|
probably benign |
Het |
| Usp18 |
T |
C |
6: 121,230,808 (GRCm39) |
I79T |
possibly damaging |
Het |
| Vmn2r109 |
A |
T |
17: 20,761,536 (GRCm39) |
V607E |
probably damaging |
Het |
| Vwa8 |
G |
A |
14: 79,275,641 (GRCm39) |
R808K |
probably null |
Het |
| Zfp248 |
A |
G |
6: 118,406,618 (GRCm39) |
Y324H |
probably damaging |
Het |
| Zfp513 |
G |
A |
5: 31,357,132 (GRCm39) |
P387S |
possibly 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 |
|
|
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'- CATGGTCTACTAGAAACACAGCTT -3'
(R):5'- AGCCGTTGGTGAATGGGAATAT -3'
Sequencing Primer
(F):5'- AGCATGACTGGACTTCTTCAC -3'
(R):5'- GGTGAATGGGAATATTTACCCCC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation