Incidental Mutation 'R7584:Usp9y'
| ID |
587007 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp9y
|
| Ensembl Gene |
ENSMUSG00000069044 |
| Gene Name |
ubiquitin specific peptidase 9, Y chromosome |
| Synonyms |
Fafl2, Dffry |
| MMRRC Submission |
045667-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R7584 (G1)
|
| Quality Score |
221.999 |
|
Status
|
Validated
|
| Chromosome |
Y |
| Chromosomal Location |
1298961-1459782 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 1384451 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 689
(Y689C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088727
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091188]
|
| AlphaFold |
F8VPU6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091188
AA Change: Y689C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000088727
Gene: ENSMUSG00000069044
AA Change: Y689C
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
99% (74/75) |
| 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 |
|---|
| Abcc10 |
A |
G |
17: 46,626,304 (GRCm39) |
|
probably null |
Het |
| Actrt3 |
T |
C |
3: 30,652,356 (GRCm39) |
K246R |
probably benign |
Het |
| Adam23 |
T |
A |
1: 63,584,621 (GRCm39) |
V343D |
probably damaging |
Het |
| Ak2 |
T |
C |
4: 128,893,005 (GRCm39) |
S55P |
probably damaging |
Het |
| Ank2 |
G |
A |
3: 126,739,777 (GRCm39) |
Q2036* |
probably null |
Het |
| Ano10 |
A |
G |
9: 122,104,597 (GRCm39) |
I40T |
probably benign |
Het |
| Aoc2 |
T |
A |
11: 101,217,005 (GRCm39) |
C363S |
possibly damaging |
Het |
| Aplp2 |
A |
T |
9: 31,069,077 (GRCm39) |
V584E |
possibly damaging |
Het |
| Arhgap32 |
A |
T |
9: 32,168,263 (GRCm39) |
T749S |
probably benign |
Het |
| Atm |
A |
T |
9: 53,424,427 (GRCm39) |
F625I |
probably damaging |
Het |
| Atr |
T |
C |
9: 95,824,766 (GRCm39) |
L2387P |
probably damaging |
Het |
| Barhl1 |
C |
T |
2: 28,799,803 (GRCm39) |
G274D |
probably damaging |
Het |
| Bcl2a1a |
A |
T |
9: 88,839,345 (GRCm39) |
D81V |
probably damaging |
Het |
| Ccdc63 |
T |
G |
5: 122,251,267 (GRCm39) |
D381A |
possibly damaging |
Het |
| Col12a1 |
A |
G |
9: 79,610,578 (GRCm39) |
|
probably null |
Het |
| Crat |
C |
T |
2: 30,294,577 (GRCm39) |
R497Q |
probably benign |
Het |
| Cyp4b1 |
T |
A |
4: 115,485,884 (GRCm39) |
D351V |
probably damaging |
Het |
| D130043K22Rik |
A |
G |
13: 25,056,353 (GRCm39) |
S562G |
probably damaging |
Het |
| Dgkb |
T |
A |
12: 38,189,391 (GRCm39) |
|
probably null |
Het |
| Dmbt1 |
C |
T |
7: 130,690,481 (GRCm39) |
Q905* |
probably null |
Het |
| Dnajc21 |
A |
C |
15: 10,462,381 (GRCm39) |
Y81* |
probably null |
Het |
| Dnali1 |
T |
C |
4: 124,959,331 (GRCm39) |
T21A |
probably benign |
Het |
| Dpp8 |
A |
T |
9: 64,986,064 (GRCm39) |
L851F |
probably damaging |
Het |
| Dpt |
T |
C |
1: 164,646,477 (GRCm39) |
Y149H |
probably benign |
Het |
| Ep300 |
T |
C |
15: 81,512,627 (GRCm39) |
V983A |
unknown |
Het |
| Faf1 |
C |
T |
4: 109,783,154 (GRCm39) |
R549C |
probably damaging |
Het |
| Gcm1 |
A |
G |
9: 77,971,749 (GRCm39) |
N230S |
possibly damaging |
Het |
| Gm10803 |
T |
A |
2: 93,394,513 (GRCm39) |
I95N |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,456,798 (GRCm39) |
I721N |
possibly damaging |
Het |
| Hsp90ab1 |
T |
C |
17: 45,881,197 (GRCm39) |
H315R |
probably damaging |
Het |
| Igkv10-95 |
T |
A |
6: 68,657,740 (GRCm39) |
S85R |
possibly damaging |
Het |
| Katnip |
G |
T |
7: 125,469,838 (GRCm39) |
V1436L |
probably damaging |
Het |
| Kcnq5 |
T |
C |
1: 21,472,545 (GRCm39) |
T901A |
probably benign |
Het |
| Kremen1 |
C |
T |
11: 5,144,964 (GRCm39) |
V471M |
possibly damaging |
Het |
| Lama2 |
C |
A |
10: 26,980,257 (GRCm39) |
D1853Y |
possibly damaging |
Het |
| Lrif1 |
A |
G |
3: 106,639,217 (GRCm39) |
T76A |
probably benign |
Het |
| Lrrtm2 |
T |
A |
18: 35,345,818 (GRCm39) |
I495F |
possibly damaging |
Het |
| Ltbr |
G |
T |
6: 125,284,204 (GRCm39) |
Q413K |
probably benign |
Het |
| Ms4a20 |
A |
G |
19: 11,087,725 (GRCm39) |
F69L |
possibly damaging |
Het |
| Myrfl |
T |
A |
10: 116,664,902 (GRCm39) |
Y376F |
probably damaging |
Het |
| Nup50l |
A |
C |
6: 96,142,373 (GRCm39) |
L224V |
probably benign |
Het |
| Nup98 |
G |
T |
7: 101,825,596 (GRCm39) |
N414K |
probably benign |
Het |
| Nynrin |
A |
G |
14: 56,109,041 (GRCm39) |
T1383A |
probably damaging |
Het |
| Or4c15 |
G |
A |
2: 88,760,149 (GRCm39) |
P170L |
probably damaging |
Het |
| Or5j1 |
A |
T |
2: 86,879,478 (GRCm39) |
I34N |
probably benign |
Het |
| Or6c208 |
T |
A |
10: 129,223,901 (GRCm39) |
I133N |
probably damaging |
Het |
| Or7g27 |
C |
A |
9: 19,250,569 (GRCm39) |
T271K |
possibly damaging |
Het |
| Or8b1d |
G |
T |
9: 38,558,191 (GRCm39) |
P210T |
possibly damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,425 (GRCm39) |
S602T |
possibly damaging |
Het |
| Sall3 |
A |
G |
18: 81,017,745 (GRCm39) |
F61S |
probably benign |
Het |
| Scube1 |
G |
T |
15: 83,606,088 (GRCm39) |
C61* |
probably null |
Het |
| Sec31b |
T |
C |
19: 44,519,995 (GRCm39) |
|
probably null |
Het |
| Sec31b |
T |
C |
19: 44,531,762 (GRCm39) |
D49G |
probably damaging |
Het |
| Skic2 |
A |
G |
17: 35,060,651 (GRCm39) |
I822T |
possibly damaging |
Het |
| Slc19a3 |
C |
T |
1: 83,000,469 (GRCm39) |
V183M |
possibly damaging |
Het |
| Slc41a2 |
T |
C |
10: 83,152,653 (GRCm39) |
|
probably benign |
Het |
| Sphk2 |
C |
A |
7: 45,361,931 (GRCm39) |
V169L |
probably damaging |
Het |
| Synpo |
C |
A |
18: 60,729,349 (GRCm39) |
R951L |
probably damaging |
Het |
| Tbc1d9b |
G |
A |
11: 50,061,543 (GRCm39) |
C1017Y |
probably damaging |
Het |
| Tmtc4 |
C |
A |
14: 123,215,563 (GRCm39) |
V28F |
probably benign |
Het |
| Tprkb |
A |
G |
6: 85,905,809 (GRCm39) |
I165V |
probably benign |
Het |
| Ttc23l |
T |
A |
15: 10,533,794 (GRCm39) |
I250F |
probably damaging |
Het |
| Tut4 |
T |
C |
4: 108,336,543 (GRCm39) |
V89A |
probably benign |
Het |
| Ubr3 |
G |
A |
2: 69,821,847 (GRCm39) |
V1370I |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,460,306 (GRCm39) |
|
probably null |
Het |
| Vmn1r56 |
A |
T |
7: 5,198,895 (GRCm39) |
Y241N |
probably damaging |
Het |
| Vmn2r6 |
T |
C |
3: 64,472,683 (GRCm39) |
T13A |
probably benign |
Het |
| Vmn2r92 |
T |
A |
17: 18,387,028 (GRCm39) |
N122K |
probably benign |
Het |
| Vps9d1 |
A |
G |
8: 123,977,456 (GRCm39) |
F131S |
probably damaging |
Het |
| Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
| Wfdc16 |
A |
T |
2: 164,480,547 (GRCm39) |
|
probably null |
Het |
| Zbtb41 |
T |
A |
1: 139,351,795 (GRCm39) |
Y303N |
probably benign |
Het |
| Zbtb5 |
T |
C |
4: 44,993,678 (GRCm39) |
T569A |
probably benign |
Het |
| Zfp111 |
A |
G |
7: 23,898,025 (GRCm39) |
S530P |
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 |
|
|
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 |
|
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'- TAGTTTCCCTTCTCGACAATTAACAG -3'
(R):5'- AAGAGATAAATGTGTTGGGTATGTC -3'
Sequencing Primer
(F):5'- CCCTTCTCGACAATTAACAGTTTTG -3'
(R):5'- CAACTCTGGCTCTGTGTT -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation