Incidental Mutation 'R2357:Usp9y'
| ID |
247483 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp9y
|
| Ensembl Gene |
ENSMUSG00000069044 |
| Gene Name |
ubiquitin specific peptidase 9, Y chromosome |
| Synonyms |
Fafl2, Dffry |
| MMRRC Submission |
040339-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R2357 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
Y |
| Chromosomal Location |
1298961-1459782 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 1394050 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 560
(T560I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088727
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091188]
|
| AlphaFold |
F8VPU6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091188
AA Change: T560I
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000088727
Gene: ENSMUSG00000069044
AA Change: T560I
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.3%
|
| Validation Efficiency |
97% (66/68) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
C |
A |
2: 68,569,844 (GRCm39) |
T520K |
possibly damaging |
Het |
| Abca13 |
T |
C |
11: 9,247,336 (GRCm39) |
L2361P |
probably damaging |
Het |
| Acsl6 |
T |
A |
11: 54,218,106 (GRCm39) |
M248K |
probably damaging |
Het |
| Adam11 |
G |
T |
11: 102,665,334 (GRCm39) |
V467L |
probably benign |
Het |
| Afap1 |
C |
T |
5: 36,141,618 (GRCm39) |
H501Y |
probably damaging |
Het |
| Ankrd28 |
A |
T |
14: 31,486,251 (GRCm39) |
Y22* |
probably null |
Het |
| Ccdc124 |
A |
T |
8: 71,321,179 (GRCm39) |
L187Q |
probably damaging |
Het |
| Cdc42bpa |
G |
A |
1: 179,894,792 (GRCm39) |
S324N |
possibly damaging |
Het |
| Cgnl1 |
T |
A |
9: 71,632,950 (GRCm39) |
K134* |
probably null |
Het |
| Cnpy3 |
G |
T |
17: 47,062,909 (GRCm39) |
S47R |
probably damaging |
Het |
| Cpne8 |
A |
T |
15: 90,503,877 (GRCm39) |
L96Q |
probably damaging |
Het |
| Crisp3 |
A |
T |
17: 40,533,396 (GRCm39) |
Y212N |
probably damaging |
Het |
| Cryba1 |
A |
T |
11: 77,613,427 (GRCm39) |
|
probably benign |
Het |
| Cyc1 |
A |
G |
15: 76,229,766 (GRCm39) |
M288V |
possibly damaging |
Het |
| Dnah8 |
T |
A |
17: 30,990,846 (GRCm39) |
D3296E |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 31,093,909 (GRCm39) |
T4668A |
probably benign |
Het |
| Dnajb6 |
T |
A |
5: 29,958,638 (GRCm39) |
F113I |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,081,053 (GRCm39) |
I2881T |
probably benign |
Het |
| Eps8l1 |
T |
C |
7: 4,473,354 (GRCm39) |
S179P |
probably benign |
Het |
| Esco2 |
C |
A |
14: 66,064,000 (GRCm39) |
A395S |
probably benign |
Het |
| Evi5l |
T |
C |
8: 4,243,113 (GRCm39) |
|
probably benign |
Het |
| Exoc6b |
T |
C |
6: 84,966,321 (GRCm39) |
T218A |
possibly damaging |
Het |
| Gde1 |
A |
T |
7: 118,290,814 (GRCm39) |
F170L |
probably benign |
Het |
| Ggt5 |
A |
C |
10: 75,445,075 (GRCm39) |
I361L |
probably benign |
Het |
| Golga3 |
C |
T |
5: 110,350,514 (GRCm39) |
T683M |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,732,370 (GRCm39) |
Q539R |
probably damaging |
Het |
| Grm2 |
A |
G |
9: 106,524,780 (GRCm39) |
V645A |
probably damaging |
Het |
| Gtf2h4 |
A |
T |
17: 35,978,891 (GRCm39) |
V408D |
probably damaging |
Het |
| Gucy1a2 |
A |
T |
9: 3,797,299 (GRCm39) |
H583L |
probably damaging |
Het |
| Hivep2 |
C |
T |
10: 14,019,043 (GRCm39) |
A1938V |
probably benign |
Het |
| Iars1 |
T |
C |
13: 49,841,679 (GRCm39) |
Y56H |
probably damaging |
Het |
| Il17re |
A |
G |
6: 113,445,431 (GRCm39) |
I381V |
possibly damaging |
Het |
| Klrd1 |
T |
A |
6: 129,573,872 (GRCm39) |
*71K |
probably null |
Het |
| Kng1 |
A |
T |
16: 22,897,815 (GRCm39) |
Y405F |
possibly damaging |
Het |
| Kptn |
G |
T |
7: 15,859,709 (GRCm39) |
C311F |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 179,821,890 (GRCm39) |
I2982V |
probably benign |
Het |
| Mamstr |
G |
T |
7: 45,291,754 (GRCm39) |
D35Y |
probably damaging |
Het |
| Mdc1 |
A |
G |
17: 36,158,337 (GRCm39) |
D239G |
probably benign |
Het |
| Mindy3 |
T |
G |
2: 12,408,987 (GRCm39) |
|
probably benign |
Het |
| Mrpl39 |
A |
T |
16: 84,524,452 (GRCm39) |
H204Q |
probably benign |
Het |
| Myo16 |
G |
A |
8: 10,644,905 (GRCm39) |
D1746N |
possibly damaging |
Het |
| Myo5a |
T |
A |
9: 75,108,647 (GRCm39) |
M1476K |
probably damaging |
Het |
| Nol4 |
A |
G |
18: 23,172,967 (GRCm39) |
S45P |
probably benign |
Het |
| Nol8 |
T |
C |
13: 49,807,980 (GRCm39) |
|
probably null |
Het |
| Or4f61 |
A |
G |
2: 111,922,743 (GRCm39) |
I101T |
possibly damaging |
Het |
| Or5d18 |
A |
T |
2: 87,865,028 (GRCm39) |
W152R |
probably damaging |
Het |
| Or6c207 |
C |
A |
10: 129,104,642 (GRCm39) |
K183N |
probably benign |
Het |
| Or8b56 |
T |
C |
9: 38,739,634 (GRCm39) |
S216P |
probably benign |
Het |
| Plau |
T |
A |
14: 20,888,683 (GRCm39) |
V100D |
probably damaging |
Het |
| Plpp7 |
T |
C |
2: 31,999,654 (GRCm39) |
V6A |
probably benign |
Het |
| Prr14 |
T |
C |
7: 127,074,535 (GRCm39) |
S356P |
probably benign |
Het |
| Rabl3 |
A |
G |
16: 37,362,293 (GRCm39) |
D44G |
probably null |
Het |
| Rasa4 |
T |
C |
5: 136,120,101 (GRCm39) |
V59A |
probably damaging |
Het |
| Rbm46 |
A |
T |
3: 82,771,765 (GRCm39) |
D283E |
probably benign |
Het |
| Rictor |
A |
T |
15: 6,813,043 (GRCm39) |
N932I |
probably damaging |
Het |
| Rpl9-ps6 |
A |
G |
19: 32,443,743 (GRCm39) |
V70A |
probably benign |
Het |
| S100a7l2 |
A |
T |
3: 90,995,733 (GRCm39) |
S56R |
probably benign |
Het |
| St3gal1 |
A |
G |
15: 66,985,631 (GRCm39) |
Y8H |
probably benign |
Het |
| Strn |
G |
A |
17: 78,963,028 (GRCm39) |
T745I |
probably damaging |
Het |
| Tbx15 |
C |
T |
3: 99,223,672 (GRCm39) |
|
probably null |
Het |
| Tbx20 |
T |
A |
9: 24,681,072 (GRCm39) |
D140V |
possibly damaging |
Het |
| Ttn |
A |
C |
2: 76,666,923 (GRCm39) |
Y42* |
probably null |
Het |
| Vmn2r111 |
A |
G |
17: 22,778,151 (GRCm39) |
|
probably benign |
Het |
| Vps13d |
GG |
GGGGGG |
4: 144,801,547 (GRCm39) |
|
probably null |
Het |
| Wfdc12 |
A |
T |
2: 164,032,170 (GRCm39) |
I40N |
probably damaging |
Het |
| Zfp78 |
G |
A |
7: 6,382,056 (GRCm39) |
G369R |
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 |
|
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'- AGAGCCCTTTCTCTAAACATTGTC -3'
(R):5'- TATGCATGTGCCCCTGCTTG -3'
Sequencing Primer
(F):5'- GGGTTTGCTAATAATTAGAGGC -3'
(R):5'- CTGCTTGGGAAACTCTATGCTACAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation