Incidental Mutation 'R1765:Usp9y'
ID |
194335 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp9y
|
Ensembl Gene |
ENSMUSG00000069044 |
Gene Name |
ubiquitin specific peptidase 9, Y chromosome |
Synonyms |
Fafl2, Dffry |
MMRRC Submission |
039797-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R1765 (G1)
|
Quality Score |
222 |
Status
|
Validated
|
Chromosome |
Y |
Chromosomal Location |
1298961-1459782 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 1384454 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 688
(V688A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000088727
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091188]
|
AlphaFold |
F8VPU6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091188
AA Change: V688A
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000088727 Gene: ENSMUSG00000069044 AA Change: V688A
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: 97.5%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.8%
|
Validation Efficiency |
99% (90/91) |
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 |
4933412E24Rik |
G |
T |
15: 59,887,194 (GRCm39) |
C415* |
probably null |
Het |
Adamtsl2 |
A |
C |
2: 26,992,842 (GRCm39) |
I652L |
probably benign |
Het |
Adgrl4 |
T |
C |
3: 151,248,872 (GRCm39) |
I720T |
probably damaging |
Het |
Agrn |
A |
T |
4: 156,261,284 (GRCm39) |
C604* |
probably null |
Het |
Amh |
AGCGCCTTGG |
AG |
10: 80,641,419 (GRCm39) |
|
probably null |
Het |
B3galt2 |
C |
A |
1: 143,522,207 (GRCm39) |
N114K |
probably benign |
Het |
Bud23 |
A |
T |
5: 135,084,897 (GRCm39) |
M59K |
probably benign |
Het |
C3 |
C |
T |
17: 57,531,401 (GRCm39) |
|
probably null |
Het |
C9orf72 |
A |
C |
4: 35,197,098 (GRCm39) |
H322Q |
probably damaging |
Het |
Cc2d2a |
A |
T |
5: 43,871,873 (GRCm39) |
D903V |
probably damaging |
Het |
Ccdc9b |
G |
A |
2: 118,591,128 (GRCm39) |
A135V |
probably benign |
Het |
Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
Cdan1 |
A |
C |
2: 120,551,230 (GRCm39) |
L1097V |
probably damaging |
Het |
Cdc26 |
T |
A |
4: 62,313,155 (GRCm39) |
N62I |
probably benign |
Het |
Cdc27 |
G |
T |
11: 104,425,607 (GRCm39) |
Q70K |
probably damaging |
Het |
Cenpq |
A |
T |
17: 41,235,178 (GRCm39) |
|
probably null |
Het |
Cep295 |
T |
C |
9: 15,239,200 (GRCm39) |
S1858G |
probably damaging |
Het |
Clasp1 |
T |
C |
1: 118,433,261 (GRCm39) |
S247P |
probably damaging |
Het |
Cyp2w1 |
C |
T |
5: 139,339,623 (GRCm39) |
T71I |
probably damaging |
Het |
Dcaf1 |
T |
C |
9: 106,741,793 (GRCm39) |
F1336S |
probably damaging |
Het |
Dennd6b |
G |
A |
15: 89,074,506 (GRCm39) |
Q104* |
probably null |
Het |
Dglucy |
T |
A |
12: 100,816,361 (GRCm39) |
|
probably null |
Het |
Dnajc9 |
A |
G |
14: 20,438,158 (GRCm39) |
V148A |
possibly damaging |
Het |
Dnmbp |
T |
A |
19: 43,890,579 (GRCm39) |
D396V |
possibly damaging |
Het |
Dock10 |
T |
A |
1: 80,583,540 (GRCm39) |
I221F |
probably damaging |
Het |
Dscam |
T |
C |
16: 96,486,579 (GRCm39) |
N1032S |
probably benign |
Het |
Dsg4 |
A |
C |
18: 20,589,888 (GRCm39) |
Y346S |
probably benign |
Het |
Dync1i2 |
A |
G |
2: 71,079,759 (GRCm39) |
H417R |
probably benign |
Het |
Dysf |
G |
A |
6: 84,167,884 (GRCm39) |
|
probably null |
Het |
Elovl1 |
A |
G |
4: 118,287,707 (GRCm39) |
M1V |
probably null |
Het |
Eva1c |
A |
G |
16: 90,701,135 (GRCm39) |
S257G |
probably benign |
Het |
Eya2 |
A |
T |
2: 165,566,723 (GRCm39) |
D258V |
probably damaging |
Het |
Fam193a |
A |
G |
5: 34,593,841 (GRCm39) |
T113A |
probably damaging |
Het |
Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
Fstl5 |
G |
T |
3: 76,500,783 (GRCm39) |
R404L |
possibly damaging |
Het |
Glud1 |
T |
C |
14: 34,047,541 (GRCm39) |
|
probably benign |
Het |
Gm10770 |
A |
C |
2: 150,021,258 (GRCm39) |
H86Q |
probably damaging |
Het |
Gzme |
C |
T |
14: 56,355,871 (GRCm39) |
G147D |
probably damaging |
Het |
Herc3 |
T |
C |
6: 58,865,645 (GRCm39) |
V746A |
probably damaging |
Het |
Hmga1 |
A |
G |
17: 27,778,592 (GRCm39) |
E17G |
probably damaging |
Het |
Kdelr2 |
A |
T |
5: 143,406,567 (GRCm39) |
K206* |
probably null |
Het |
Kng2 |
A |
G |
16: 22,806,993 (GRCm39) |
|
probably null |
Het |
Lrrc41 |
G |
A |
4: 115,946,248 (GRCm39) |
R321H |
possibly damaging |
Het |
Mapkapk2 |
A |
T |
1: 130,986,498 (GRCm39) |
M1K |
probably null |
Het |
Me2 |
A |
G |
18: 73,924,929 (GRCm39) |
F263L |
probably damaging |
Het |
Mkks |
A |
G |
2: 136,722,287 (GRCm39) |
L290P |
probably damaging |
Het |
Mmp12 |
T |
A |
9: 7,354,772 (GRCm39) |
I255N |
probably damaging |
Het |
Mogs |
A |
G |
6: 83,093,784 (GRCm39) |
D251G |
probably benign |
Het |
Morf4l1 |
T |
A |
9: 89,984,401 (GRCm39) |
Y65F |
possibly damaging |
Het |
Neb |
T |
C |
2: 52,094,676 (GRCm39) |
D5169G |
probably damaging |
Het |
Nin |
A |
G |
12: 70,089,665 (GRCm39) |
L1250P |
probably damaging |
Het |
Nomo1 |
G |
T |
7: 45,715,717 (GRCm39) |
G721V |
possibly damaging |
Het |
Notch2 |
T |
G |
3: 98,029,242 (GRCm39) |
C1002G |
probably damaging |
Het |
Npat |
T |
C |
9: 53,481,522 (GRCm39) |
Y1077H |
probably benign |
Het |
Or1e1c |
T |
A |
11: 73,266,170 (GRCm39) |
N198K |
probably damaging |
Het |
Or4g17 |
G |
A |
2: 111,209,491 (GRCm39) |
V49I |
probably benign |
Het |
Or4p21 |
A |
T |
2: 88,276,367 (GRCm39) |
F305Y |
probably damaging |
Het |
Or5h25 |
A |
G |
16: 58,930,118 (GRCm39) |
L285P |
probably damaging |
Het |
Or8c16 |
T |
C |
9: 38,130,548 (GRCm39) |
I143T |
probably benign |
Het |
Otop2 |
A |
T |
11: 115,215,504 (GRCm39) |
I142F |
probably benign |
Het |
Pacsin3 |
A |
G |
2: 91,093,460 (GRCm39) |
E279G |
possibly damaging |
Het |
Pafah2 |
A |
G |
4: 134,140,758 (GRCm39) |
T243A |
probably benign |
Het |
Pcdhgc5 |
A |
G |
18: 37,954,913 (GRCm39) |
H729R |
probably benign |
Het |
Plcd1 |
T |
C |
9: 118,900,874 (GRCm39) |
D756G |
probably damaging |
Het |
Prune2 |
A |
G |
19: 17,102,962 (GRCm39) |
E2707G |
probably damaging |
Het |
Rit2 |
C |
T |
18: 31,449,951 (GRCm39) |
G16S |
probably damaging |
Het |
Sec24c |
A |
G |
14: 20,738,922 (GRCm39) |
|
probably benign |
Het |
Skint5 |
G |
T |
4: 113,434,858 (GRCm39) |
T1037K |
unknown |
Het |
Slc28a2 |
T |
A |
2: 122,290,876 (GRCm39) |
|
probably null |
Het |
Slc41a2 |
G |
A |
10: 83,137,130 (GRCm39) |
A259V |
probably damaging |
Het |
Slc6a17 |
T |
A |
3: 107,380,895 (GRCm39) |
I537F |
possibly damaging |
Het |
Slco1a7 |
T |
C |
6: 141,700,084 (GRCm39) |
|
probably benign |
Het |
Smchd1 |
A |
T |
17: 71,707,196 (GRCm39) |
|
probably benign |
Het |
Smg1 |
T |
C |
7: 117,738,938 (GRCm39) |
I3489V |
probably benign |
Het |
Sytl3 |
T |
C |
17: 6,967,082 (GRCm39) |
L142P |
probably damaging |
Het |
Tektl1 |
A |
T |
10: 78,584,502 (GRCm39) |
M340K |
probably benign |
Het |
Tfr2 |
C |
T |
5: 137,581,707 (GRCm39) |
T598I |
probably damaging |
Het |
Tmc2 |
A |
G |
2: 130,102,145 (GRCm39) |
Q770R |
probably benign |
Het |
Tnc |
C |
T |
4: 63,932,231 (GRCm39) |
V728M |
probably damaging |
Het |
Trim68 |
A |
T |
7: 102,329,597 (GRCm39) |
M177K |
possibly damaging |
Het |
Trmt11 |
T |
C |
10: 30,435,184 (GRCm39) |
D325G |
probably benign |
Het |
Ube3a |
C |
T |
7: 58,935,862 (GRCm39) |
T582I |
probably damaging |
Het |
Usp13 |
G |
A |
3: 32,969,919 (GRCm39) |
E682K |
probably benign |
Het |
Uts2r |
A |
G |
11: 121,052,095 (GRCm39) |
T320A |
possibly damaging |
Het |
Vmn1r34 |
A |
T |
6: 66,614,480 (GRCm39) |
M86K |
probably damaging |
Het |
Vsig10 |
A |
G |
5: 117,456,880 (GRCm39) |
|
probably benign |
Het |
Zbtb41 |
T |
A |
1: 139,368,132 (GRCm39) |
C607S |
probably benign |
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 |
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 |
|
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'- TCATTAGTTTCCCTTCTCGACAATTAACAGTT -3'
(R):5'- GCAAGATACTCTCCAAGACAGTCATTTCCA -3'
Sequencing Primer
(F):5'- GGATCAAGCTGAAGCACATTACTTTC -3'
(R):5'- CAACTCTGGCTCTGTGTTTC -3'
|
Posted On |
2014-05-23 |