Incidental Mutation 'R1775:Usp9y'
| ID |
204382 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp9y
|
| Ensembl Gene |
ENSMUSG00000069044 |
| Gene Name |
ubiquitin specific peptidase 9, Y chromosome |
| Synonyms |
Dffry, Fafl2 |
| MMRRC Submission |
039806-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R1775 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
Y |
| Chromosomal Location |
1298961-1459782 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 1368089 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 939
(E939G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088727
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091188]
|
| AlphaFold |
F8VPU6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091188
AA Change: E939G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088727
Gene: ENSMUSG00000069044
AA Change: E939G
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.5%
- 20x: 92.9%
|
| Validation Efficiency |
98% (95/97) |
| 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: 93 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J04Rik |
A |
G |
12: 11,222,142 |
S20P |
unknown |
Het |
| 4921528I07Rik |
G |
A |
9: 114,279,318 |
|
noncoding transcript |
Het |
| 4930562C15Rik |
G |
A |
16: 4,851,558 |
|
probably null |
Het |
| 4933427I04Rik |
A |
G |
4: 123,860,493 |
T67A |
possibly damaging |
Het |
| Abcc2 |
A |
T |
19: 43,798,419 |
N160Y |
possibly damaging |
Het |
| Acaca |
A |
G |
11: 84,300,422 |
D155G |
possibly damaging |
Het |
| Afg3l1 |
G |
A |
8: 123,492,900 |
R389Q |
possibly damaging |
Het |
| Ank2 |
G |
A |
3: 126,934,547 |
T799M |
probably benign |
Het |
| Anxa2 |
T |
C |
9: 69,488,081 |
Y202H |
possibly damaging |
Het |
| Arhgef33 |
A |
G |
17: 80,373,743 |
T771A |
probably benign |
Het |
| Atp12a |
T |
C |
14: 56,372,589 |
V182A |
probably benign |
Het |
| Birc6 |
T |
C |
17: 74,612,286 |
L210S |
probably damaging |
Het |
| Car3 |
A |
G |
3: 14,864,432 |
T73A |
probably benign |
Het |
| Cd5l |
T |
C |
3: 87,368,659 |
L312P |
probably damaging |
Het |
| Celf5 |
A |
G |
10: 81,467,304 |
|
probably benign |
Het |
| Cep290 |
T |
A |
10: 100,496,810 |
V257E |
probably damaging |
Het |
| Cntrob |
T |
C |
11: 69,320,867 |
D177G |
possibly damaging |
Het |
| Copg2 |
A |
T |
6: 30,810,336 |
F658I |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,899,739 |
T1234A |
probably damaging |
Het |
| Dhx35 |
A |
G |
2: 158,806,437 |
T72A |
probably damaging |
Het |
| Dmrtc2 |
A |
T |
7: 24,874,367 |
H209L |
possibly damaging |
Het |
| Eml5 |
G |
T |
12: 98,852,704 |
|
probably null |
Het |
| Evpl |
T |
C |
11: 116,223,660 |
E1068G |
possibly damaging |
Het |
| Ezh2 |
A |
G |
6: 47,576,660 |
M41T |
probably damaging |
Het |
| Fmo3 |
A |
G |
1: 162,968,725 |
S93P |
possibly damaging |
Het |
| Gdi2 |
A |
G |
13: 3,560,018 |
Y213C |
possibly damaging |
Het |
| Gpr15 |
A |
T |
16: 58,718,558 |
I56K |
probably benign |
Het |
| Gria2 |
G |
T |
3: 80,691,338 |
S796R |
probably benign |
Het |
| Hectd4 |
T |
A |
5: 121,291,191 |
|
probably benign |
Het |
| Hgfac |
T |
C |
5: 35,042,850 |
|
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,520,156 |
R1200W |
probably damaging |
Het |
| Ift52 |
G |
A |
2: 163,025,355 |
D78N |
possibly damaging |
Het |
| Iqca |
C |
A |
1: 90,081,416 |
W415L |
probably damaging |
Het |
| Ism1 |
A |
T |
2: 139,746,043 |
K236N |
probably damaging |
Het |
| Itgb6 |
C |
T |
2: 60,672,644 |
W43* |
probably null |
Het |
| Kcnk18 |
T |
A |
19: 59,235,341 |
I306N |
probably damaging |
Het |
| Kctd8 |
T |
C |
5: 69,340,560 |
K248E |
probably damaging |
Het |
| Layn |
T |
A |
9: 51,059,533 |
I237F |
probably benign |
Het |
| Lce3f |
C |
T |
3: 92,992,941 |
P23L |
unknown |
Het |
| Lct |
A |
G |
1: 128,300,301 |
F1152L |
probably damaging |
Het |
| Mxra8 |
T |
C |
4: 155,843,074 |
I413T |
probably damaging |
Het |
| Nedd9 |
A |
G |
13: 41,317,962 |
V187A |
probably benign |
Het |
| Net1 |
A |
G |
13: 3,887,642 |
L207P |
probably damaging |
Het |
| Neurod1 |
G |
T |
2: 79,454,437 |
P201T |
probably benign |
Het |
| Nlrp1b |
A |
G |
11: 71,161,821 |
F927S |
probably damaging |
Het |
| Ntrk3 |
T |
A |
7: 78,356,041 |
H524L |
possibly damaging |
Het |
| Nup98 |
A |
C |
7: 102,134,937 |
S1063A |
probably benign |
Het |
| Olfr1036 |
G |
A |
2: 86,074,760 |
V7I |
possibly damaging |
Het |
| Olfr1333 |
T |
A |
4: 118,829,868 |
M191L |
probably benign |
Het |
| Olfr1447 |
C |
A |
19: 12,901,235 |
V182F |
probably benign |
Het |
| Olfr215 |
T |
C |
6: 116,582,964 |
|
probably benign |
Het |
| Olfr657 |
G |
A |
7: 104,636,159 |
V162I |
probably benign |
Het |
| Olfr747 |
G |
T |
14: 50,681,166 |
P156Q |
possibly damaging |
Het |
| Pdzd2 |
G |
A |
15: 12,592,460 |
R33W |
probably damaging |
Het |
| Phf21a |
G |
A |
2: 92,330,515 |
V243I |
probably damaging |
Het |
| Ppp1r12b |
A |
G |
1: 134,893,348 |
|
probably null |
Het |
| Rexo5 |
T |
C |
7: 119,845,411 |
V703A |
probably benign |
Het |
| Rgs4 |
A |
G |
1: 169,745,278 |
S30P |
probably benign |
Het |
| Rrnad1 |
A |
G |
3: 87,923,817 |
S404P |
probably damaging |
Het |
| Rxra |
C |
A |
2: 27,756,244 |
D340E |
probably damaging |
Het |
| Samhd1 |
A |
G |
2: 157,107,547 |
V473A |
probably benign |
Het |
| Scn3a |
T |
A |
2: 65,472,342 |
K1253N |
probably damaging |
Het |
| Scn7a |
T |
C |
2: 66,680,955 |
N1207S |
probably benign |
Het |
| Sec24d |
T |
A |
3: 123,336,517 |
I443N |
probably damaging |
Het |
| Sema4g |
T |
A |
19: 44,999,242 |
|
probably null |
Het |
| Sema5b |
A |
G |
16: 35,660,324 |
K787R |
probably benign |
Het |
| Serpinc1 |
A |
G |
1: 160,989,647 |
N104D |
probably benign |
Het |
| Sfn |
T |
C |
4: 133,601,231 |
H180R |
probably damaging |
Het |
| Slc22a6 |
G |
T |
19: 8,619,107 |
|
probably null |
Het |
| Slc9a8 |
T |
C |
2: 167,457,358 |
S217P |
probably benign |
Het |
| Smc6 |
A |
G |
12: 11,309,269 |
N965D |
probably benign |
Het |
| Sod2 |
T |
A |
17: 13,015,032 |
I177N |
probably damaging |
Het |
| Sp4 |
A |
T |
12: 118,299,600 |
I237K |
probably damaging |
Het |
| Sulf2 |
T |
C |
2: 166,079,612 |
K697R |
probably benign |
Het |
| Svs4 |
A |
T |
2: 164,277,085 |
D110E |
unknown |
Het |
| Tas1r1 |
T |
A |
4: 152,038,218 |
R57* |
probably null |
Het |
| Tlr5 |
T |
C |
1: 182,973,722 |
I197T |
probably damaging |
Het |
| Tmc3 |
T |
C |
7: 83,612,532 |
V606A |
probably benign |
Het |
| Tmem241 |
T |
A |
18: 12,118,412 |
L37F |
probably damaging |
Het |
| Tmem59l |
A |
T |
8: 70,486,253 |
N90K |
probably damaging |
Het |
| Tram1 |
A |
C |
1: 13,576,456 |
|
probably benign |
Het |
| Trim15 |
T |
A |
17: 36,865,169 |
H162L |
probably benign |
Het |
| Ttc28 |
T |
A |
5: 111,276,811 |
Y1501N |
probably benign |
Het |
| Ttc34 |
T |
C |
4: 154,862,214 |
V857A |
probably benign |
Het |
| Tulp4 |
A |
G |
17: 6,139,046 |
T48A |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,770,808 |
I1634T |
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,738,170 |
M729V |
probably benign |
Het |
| Vps13c |
C |
T |
9: 67,881,447 |
T334M |
probably damaging |
Het |
| Wnk4 |
C |
G |
11: 101,276,340 |
|
probably benign |
Het |
| Xpo1 |
A |
G |
11: 23,271,193 |
N97D |
probably benign |
Het |
| Xpo4 |
A |
T |
14: 57,603,672 |
F518Y |
probably benign |
Het |
| Zfp668 |
C |
T |
7: 127,866,606 |
V469I |
possibly damaging |
Het |
| Zfp85 |
C |
A |
13: 67,749,704 |
C83F |
probably damaging |
Het |
|
| Other mutations in Usp9y |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4466001:Usp9y
|
UTSW |
Y |
1,432,197 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0288:Usp9y
|
UTSW |
Y |
1,333,606 (GRCm38) |
splice site |
probably benign |
|
|
R0365:Usp9y
|
UTSW |
Y |
1,364,732 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0386:Usp9y
|
UTSW |
Y |
1,316,933 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0395:Usp9y
|
UTSW |
Y |
1,340,053 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0518:Usp9y
|
UTSW |
Y |
1,307,880 (GRCm38) |
missense |
probably benign |
|
|
R0521:Usp9y
|
UTSW |
Y |
1,307,880 (GRCm38) |
missense |
probably benign |
|
|
R0530:Usp9y
|
UTSW |
Y |
1,333,600 (GRCm38) |
splice site |
probably benign |
|
|
R0759:Usp9y
|
UTSW |
Y |
1,299,097 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0849:Usp9y
|
UTSW |
Y |
1,394,002 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0932:Usp9y
|
UTSW |
Y |
1,315,930 (GRCm38) |
missense |
probably benign |
0.37 |
|
R1018:Usp9y
|
UTSW |
Y |
1,341,414 (GRCm38) |
splice site |
probably benign |
|
|
R1208:Usp9y
|
UTSW |
Y |
1,356,282 (GRCm38) |
missense |
probably benign |
|
|
R1208:Usp9y
|
UTSW |
Y |
1,356,282 (GRCm38) |
missense |
probably benign |
|
|
R1470:Usp9y
|
UTSW |
Y |
1,332,471 (GRCm38) |
missense |
probably benign |
0.19 |
|
R1470:Usp9y
|
UTSW |
Y |
1,332,471 (GRCm38) |
missense |
probably benign |
0.19 |
|
R1730:Usp9y
|
UTSW |
Y |
1,367,093 (GRCm38) |
missense |
probably benign |
0.18 |
|
R1743:Usp9y
|
UTSW |
Y |
1,316,727 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1765:Usp9y
|
UTSW |
Y |
1,384,454 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R1783:Usp9y
|
UTSW |
Y |
1,367,093 (GRCm38) |
missense |
probably benign |
0.18 |
|
R1889:Usp9y
|
UTSW |
Y |
1,448,829 (GRCm38) |
splice site |
probably null |
|
|
R1901:Usp9y
|
UTSW |
Y |
1,303,371 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2081:Usp9y
|
UTSW |
Y |
1,381,277 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R2119:Usp9y
|
UTSW |
Y |
1,303,451 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2357:Usp9y
|
UTSW |
Y |
1,394,050 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R2873:Usp9y
|
UTSW |
Y |
1,310,502 (GRCm38) |
splice site |
probably benign |
|
|
R3938:Usp9y
|
UTSW |
Y |
1,313,741 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4323:Usp9y
|
UTSW |
Y |
1,434,407 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4385:Usp9y
|
UTSW |
Y |
1,304,756 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4407:Usp9y
|
UTSW |
Y |
1,336,375 (GRCm38) |
missense |
probably benign |
0.16 |
|
R4457:Usp9y
|
UTSW |
Y |
1,394,078 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R4747:Usp9y
|
UTSW |
Y |
1,391,284 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R4823:Usp9y
|
UTSW |
Y |
1,444,559 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4834:Usp9y
|
UTSW |
Y |
1,317,002 (GRCm38) |
missense |
probably benign |
0.32 |
|
R4872:Usp9y
|
UTSW |
Y |
1,307,920 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4911:Usp9y
|
UTSW |
Y |
1,308,041 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4915:Usp9y
|
UTSW |
Y |
1,316,735 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4962:Usp9y
|
UTSW |
Y |
1,384,336 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5378:Usp9y
|
UTSW |
Y |
1,315,928 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5422:Usp9y
|
UTSW |
Y |
1,314,676 (GRCm38) |
missense |
probably benign |
|
|
R5432:Usp9y
|
UTSW |
Y |
1,368,022 (GRCm38) |
splice site |
probably null |
|
|
R5442:Usp9y
|
UTSW |
Y |
1,336,467 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R5469:Usp9y
|
UTSW |
Y |
1,364,714 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5500:Usp9y
|
UTSW |
Y |
1,341,875 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5729:Usp9y
|
UTSW |
Y |
1,381,339 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5891:Usp9y
|
UTSW |
Y |
1,341,535 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5920:Usp9y
|
UTSW |
Y |
1,316,730 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5948:Usp9y
|
UTSW |
Y |
1,324,996 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R6062:Usp9y
|
UTSW |
Y |
1,454,199 (GRCm38) |
missense |
probably benign |
0.28 |
|
R6265:Usp9y
|
UTSW |
Y |
1,446,843 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6274:Usp9y
|
UTSW |
Y |
1,316,735 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6313:Usp9y
|
UTSW |
Y |
1,385,355 (GRCm38) |
missense |
probably benign |
|
|
R6330:Usp9y
|
UTSW |
Y |
1,340,123 (GRCm38) |
missense |
probably benign |
0.20 |
|
R6471:Usp9y
|
UTSW |
Y |
1,384,511 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6547:Usp9y
|
UTSW |
Y |
1,444,612 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6791:Usp9y
|
UTSW |
Y |
1,325,042 (GRCm38) |
splice site |
probably null |
|
|
R7194:Usp9y
|
UTSW |
Y |
1,304,672 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7341:Usp9y
|
UTSW |
Y |
1,315,759 (GRCm38) |
splice site |
probably null |
|
|
R7357:Usp9y
|
UTSW |
Y |
1,333,656 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R7374:Usp9y
|
UTSW |
Y |
1,381,305 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7404:Usp9y
|
UTSW |
Y |
1,341,780 (GRCm38) |
missense |
probably benign |
0.35 |
|
R7481:Usp9y
|
UTSW |
Y |
1,432,180 (GRCm38) |
missense |
probably benign |
0.08 |
|
R7584:Usp9y
|
UTSW |
Y |
1,384,451 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7697:Usp9y
|
UTSW |
Y |
1,316,990 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R7713:Usp9y
|
UTSW |
Y |
1,304,411 (GRCm38) |
nonsense |
probably null |
|
|
R7790:Usp9y
|
UTSW |
Y |
1,444,573 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7900:Usp9y
|
UTSW |
Y |
1,384,354 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R7964:Usp9y
|
UTSW |
Y |
1,316,914 (GRCm38) |
missense |
probably benign |
0.19 |
|
R8396:Usp9y
|
UTSW |
Y |
1,308,034 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R8703:Usp9y
|
UTSW |
Y |
1,356,317 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8776:Usp9y
|
UTSW |
Y |
1,356,320 (GRCm38) |
missense |
probably benign |
0.15 |
|
R8776-TAIL:Usp9y
|
UTSW |
Y |
1,356,320 (GRCm38) |
missense |
probably benign |
0.15 |
|
R8855:Usp9y
|
UTSW |
Y |
1,395,758 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8866:Usp9y
|
UTSW |
Y |
1,395,758 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8952:Usp9y
|
UTSW |
Y |
1,332,662 (GRCm38) |
intron |
probably benign |
|
|
R9008:Usp9y
|
UTSW |
Y |
1,434,993 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R9011:Usp9y
|
UTSW |
Y |
1,316,978 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9076:Usp9y
|
UTSW |
Y |
1,383,354 (GRCm38) |
missense |
probably benign |
0.08 |
|
R9256:Usp9y
|
UTSW |
Y |
1,356,235 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R9332:Usp9y
|
UTSW |
Y |
1,341,873 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9367:Usp9y
|
UTSW |
Y |
1,324,982 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9382:Usp9y
|
UTSW |
Y |
1,364,776 (GRCm38) |
missense |
probably benign |
0.08 |
|
R9503:Usp9y
|
UTSW |
Y |
1,316,045 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R9515:Usp9y
|
UTSW |
Y |
1,432,188 (GRCm38) |
missense |
probably benign |
0.28 |
|
R9792:Usp9y
|
UTSW |
Y |
1,364,679 (GRCm38) |
missense |
probably benign |
0.16 |
|
R9793:Usp9y
|
UTSW |
Y |
1,364,679 (GRCm38) |
missense |
probably benign |
0.16 |
|
R9795:Usp9y
|
UTSW |
Y |
1,364,679 (GRCm38) |
missense |
probably benign |
0.16 |
|
RF005:Usp9y
|
UTSW |
Y |
1,435,046 (GRCm38) |
missense |
probably benign |
0.43 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTAACGTGGTATATAAAGTAGGC -3'
(R):5'- CCAGAGCATTTCGTGGAAAAC -3'
Sequencing Primer
(F):5'- GCATCACTACACATCTTCCTTGTTAG -3'
(R):5'- GGAAAACACTTGTCTTTTACAGTACG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation