Incidental Mutation 'R2119:Usp9y'
| ID |
231332 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp9y
|
| Ensembl Gene |
ENSMUSG00000069044 |
| Gene Name |
ubiquitin specific peptidase 9, Y chromosome |
| Synonyms |
Fafl2, Dffry |
| MMRRC Submission |
040123-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R2119 (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 T
at 1303451 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 2487
(D2487E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088727
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091188]
|
| AlphaFold |
F8VPU6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091188
AA Change: D2487E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000088727
Gene: ENSMUSG00000069044
AA Change: D2487E
| 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: 98.6%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
T |
A |
4: 62,457,109 (GRCm39) |
L143M |
possibly damaging |
Het |
| Actbl2 |
G |
A |
13: 111,391,694 (GRCm39) |
V10I |
probably benign |
Het |
| Adamts12 |
C |
T |
15: 11,310,665 (GRCm39) |
T974I |
probably damaging |
Het |
| Aifm2 |
G |
A |
10: 61,571,383 (GRCm39) |
V306M |
possibly damaging |
Het |
| Arhgef38 |
T |
C |
3: 132,866,514 (GRCm39) |
K208E |
probably benign |
Het |
| Atxn7l3 |
C |
A |
11: 102,182,807 (GRCm39) |
R278L |
possibly damaging |
Het |
| Bcl9 |
A |
G |
3: 97,116,231 (GRCm39) |
L821P |
probably benign |
Het |
| Cdh19 |
C |
T |
1: 110,847,320 (GRCm39) |
V430I |
probably benign |
Het |
| Clns1a |
T |
A |
7: 97,363,111 (GRCm39) |
|
probably null |
Het |
| Col3a1 |
T |
A |
1: 45,385,281 (GRCm39) |
C133S |
probably damaging |
Het |
| Csmd1 |
G |
A |
8: 17,266,749 (GRCm39) |
T59I |
probably damaging |
Het |
| Cyp2a12 |
A |
G |
7: 26,736,071 (GRCm39) |
*493W |
probably null |
Het |
| Cyp2j8 |
A |
T |
4: 96,395,438 (GRCm39) |
D62E |
probably benign |
Het |
| Dcbld1 |
A |
T |
10: 52,196,075 (GRCm39) |
M428L |
probably benign |
Het |
| Dhx32 |
A |
T |
7: 133,323,976 (GRCm39) |
Y523* |
probably null |
Het |
| Dlgap2 |
C |
T |
8: 14,828,206 (GRCm39) |
A538V |
possibly damaging |
Het |
| Dlgap3 |
T |
C |
4: 127,129,982 (GRCm39) |
S919P |
probably benign |
Het |
| Dmd |
G |
C |
X: 83,356,089 (GRCm39) |
A2257P |
probably benign |
Het |
| Dsc1 |
A |
T |
18: 20,243,209 (GRCm39) |
H81Q |
probably benign |
Het |
| Dusp8 |
A |
T |
7: 141,636,298 (GRCm39) |
S431T |
possibly damaging |
Het |
| Dync1i1 |
A |
T |
6: 5,767,096 (GRCm39) |
T59S |
probably damaging |
Het |
| Ecel1 |
A |
G |
1: 87,075,997 (GRCm39) |
S727P |
probably damaging |
Het |
| Ednrb |
T |
A |
14: 104,059,204 (GRCm39) |
D274V |
probably benign |
Het |
| Eef1d |
G |
T |
15: 75,775,062 (GRCm39) |
A199E |
probably benign |
Het |
| Eml3 |
T |
A |
19: 8,911,718 (GRCm39) |
|
probably null |
Het |
| Enah |
G |
T |
1: 181,749,318 (GRCm39) |
A138E |
probably damaging |
Het |
| Fgf18 |
A |
C |
11: 33,068,003 (GRCm39) |
F129C |
probably damaging |
Het |
| Gba1 |
A |
T |
3: 89,112,868 (GRCm39) |
E170V |
probably benign |
Het |
| Hdac1 |
C |
T |
4: 129,416,157 (GRCm39) |
R212Q |
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,447,527 (GRCm39) |
L1740Q |
probably null |
Het |
| Inhbb |
T |
A |
1: 119,348,431 (GRCm39) |
H129L |
probably benign |
Het |
| Inpp5b |
T |
A |
4: 124,691,662 (GRCm39) |
H862Q |
probably benign |
Het |
| Itsn2 |
C |
A |
12: 4,757,025 (GRCm39) |
R1372S |
probably benign |
Het |
| Jaml |
T |
A |
9: 45,012,362 (GRCm39) |
I283N |
probably damaging |
Het |
| Klk1b21 |
A |
T |
7: 43,755,193 (GRCm39) |
T163S |
probably benign |
Het |
| Lmo3 |
A |
T |
6: 138,393,492 (GRCm39) |
C43S |
probably damaging |
Het |
| Metrn |
C |
T |
17: 26,014,197 (GRCm39) |
V210I |
probably benign |
Het |
| Ndufaf7 |
A |
T |
17: 79,252,442 (GRCm39) |
I284F |
possibly damaging |
Het |
| Nlrp6 |
T |
C |
7: 140,506,357 (GRCm39) |
V766A |
probably benign |
Het |
| Or10a5 |
A |
G |
7: 106,635,938 (GRCm39) |
D192G |
probably damaging |
Het |
| Osbpl7 |
T |
C |
11: 96,946,905 (GRCm39) |
S403P |
probably benign |
Het |
| Pabpc4l |
T |
C |
3: 46,401,276 (GRCm39) |
T123A |
probably benign |
Het |
| Pde6d |
A |
G |
1: 86,473,524 (GRCm39) |
F91L |
probably benign |
Het |
| Psg20 |
T |
A |
7: 18,414,947 (GRCm39) |
Y316F |
probably benign |
Het |
| Psmd1 |
T |
A |
1: 86,006,422 (GRCm39) |
S263T |
possibly damaging |
Het |
| Pum1 |
C |
A |
4: 130,396,581 (GRCm39) |
T112K |
possibly damaging |
Het |
| Rasgrp2 |
T |
A |
19: 6,454,425 (GRCm39) |
M156K |
probably benign |
Het |
| Reln |
T |
A |
5: 22,223,998 (GRCm39) |
E917V |
probably damaging |
Het |
| Rfc4 |
A |
T |
16: 22,943,314 (GRCm39) |
V61E |
probably damaging |
Het |
| Rnf112 |
C |
T |
11: 61,341,854 (GRCm39) |
V317I |
possibly damaging |
Het |
| Rpe |
T |
C |
1: 66,754,387 (GRCm39) |
M153T |
probably damaging |
Het |
| Rtn4ip1 |
A |
G |
10: 43,811,993 (GRCm39) |
|
probably null |
Het |
| Sap18 |
T |
A |
14: 58,036,011 (GRCm39) |
S66T |
probably damaging |
Het |
| Scamp5 |
C |
A |
9: 57,354,508 (GRCm39) |
V49F |
possibly damaging |
Het |
| Serhl |
A |
G |
15: 82,999,776 (GRCm39) |
Q252R |
probably benign |
Het |
| Sestd1 |
T |
C |
2: 77,042,867 (GRCm39) |
D229G |
probably benign |
Het |
| Slc35g1 |
T |
C |
19: 38,391,735 (GRCm39) |
V339A |
probably benign |
Het |
| Slc9b2 |
T |
A |
3: 135,034,743 (GRCm39) |
|
probably null |
Het |
| Stk40 |
C |
T |
4: 126,022,640 (GRCm39) |
T138I |
probably benign |
Het |
| Syt10 |
C |
T |
15: 89,674,979 (GRCm39) |
D456N |
probably damaging |
Het |
| Tep1 |
T |
G |
14: 51,076,443 (GRCm39) |
K1664Q |
probably benign |
Het |
| Tmod2 |
T |
C |
9: 75,493,377 (GRCm39) |
K193E |
possibly damaging |
Het |
| Trak1 |
T |
A |
9: 121,302,063 (GRCm39) |
*940R |
probably null |
Het |
| Ttc5 |
A |
T |
14: 51,012,822 (GRCm39) |
Y189N |
probably damaging |
Het |
| Ugt2a3 |
A |
T |
5: 87,484,430 (GRCm39) |
M198K |
probably damaging |
Het |
| Uox |
A |
G |
3: 146,318,297 (GRCm39) |
H66R |
probably benign |
Het |
| Vnn3 |
G |
A |
10: 23,740,311 (GRCm39) |
G205R |
probably damaging |
Het |
| Vps11 |
T |
C |
9: 44,260,294 (GRCm39) |
D856G |
probably benign |
Het |
| Zdhhc17 |
T |
C |
10: 110,817,909 (GRCm39) |
N90D |
possibly damaging |
Het |
| Zfp105 |
T |
A |
9: 122,758,743 (GRCm39) |
L138* |
probably null |
Het |
| Zfp28 |
A |
G |
7: 6,397,875 (GRCm39) |
Y770C |
probably benign |
Het |
| Zfp655 |
T |
A |
5: 145,181,594 (GRCm39) |
L484Q |
probably damaging |
Het |
| Zfp868 |
C |
A |
8: 70,064,646 (GRCm39) |
E230* |
probably null |
Het |
| Zfpm2 |
A |
G |
15: 40,966,419 (GRCm39) |
Y836C |
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 |
|
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'- CAGGATGATTCTAGAACAAATGTGC -3'
(R):5'- AGGCCAACTTTGTGCACTC -3'
Sequencing Primer
(F):5'- CTGGGAAAAGTTGAAGTCA -3'
(R):5'- GCCAACTTTGTGCACTCAGTTG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation