Incidental Mutation 'R5891:Usp9y'
| ID |
457222 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp9y
|
| Ensembl Gene |
ENSMUSG00000069044 |
| Gene Name |
ubiquitin specific peptidase 9, Y chromosome |
| Synonyms |
Fafl2, Dffry |
| MMRRC Submission |
044092-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R5891 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
Y |
| Chromosomal Location |
1298961-1459782 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 1341535 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1375
(D1375E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088727
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091188]
|
| AlphaFold |
F8VPU6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091188
AA Change: D1375E
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000088727
Gene: ENSMUSG00000069044
AA Change: D1375E
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.9%
|
| Validation Efficiency |
96% (85/89) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
A |
T |
16: 56,426,496 (GRCm39) |
T504S |
probably damaging |
Het |
| Adamtsl4 |
C |
A |
3: 95,589,623 (GRCm39) |
R387L |
possibly damaging |
Het |
| Adgb |
G |
A |
10: 10,253,591 (GRCm39) |
Q1224* |
probably null |
Het |
| Ankrd40 |
T |
A |
11: 94,225,689 (GRCm39) |
F240Y |
probably damaging |
Het |
| Asnsd1 |
A |
T |
1: 53,387,136 (GRCm39) |
Y164N |
probably benign |
Het |
| Atf7ip |
A |
T |
6: 136,536,975 (GRCm39) |
E69D |
possibly damaging |
Het |
| Atm |
T |
C |
9: 53,408,459 (GRCm39) |
T1129A |
probably benign |
Het |
| Atosa |
C |
G |
9: 74,911,668 (GRCm39) |
C46W |
probably damaging |
Het |
| AU021092 |
T |
C |
16: 5,029,995 (GRCm39) |
D340G |
probably benign |
Het |
| Baz2a |
T |
A |
10: 127,957,191 (GRCm39) |
I978N |
probably damaging |
Het |
| BC034090 |
T |
C |
1: 155,108,793 (GRCm39) |
|
probably benign |
Het |
| Bcl9 |
A |
G |
3: 97,116,204 (GRCm39) |
L830P |
probably damaging |
Het |
| Bicral |
T |
C |
17: 47,112,155 (GRCm39) |
N1015S |
probably benign |
Het |
| Ccdc9b |
T |
A |
2: 118,591,864 (GRCm39) |
D92V |
probably damaging |
Het |
| Ceacam3 |
C |
A |
7: 16,885,718 (GRCm39) |
T107N |
probably damaging |
Het |
| Cep83 |
T |
C |
10: 94,561,537 (GRCm39) |
V109A |
probably benign |
Het |
| Ces1e |
A |
G |
8: 93,929,894 (GRCm39) |
V463A |
possibly damaging |
Het |
| Ciao1 |
A |
G |
2: 127,089,054 (GRCm39) |
V55A |
probably benign |
Het |
| Col19a1 |
T |
C |
1: 24,328,806 (GRCm39) |
E900G |
probably damaging |
Het |
| Commd3 |
A |
G |
2: 18,678,626 (GRCm39) |
|
probably benign |
Het |
| Coro1c |
A |
G |
5: 113,988,872 (GRCm39) |
I157T |
probably damaging |
Het |
| Cplane1 |
A |
G |
15: 8,218,073 (GRCm39) |
I828V |
probably benign |
Het |
| Ctso |
T |
A |
3: 81,861,561 (GRCm39) |
F311L |
probably benign |
Het |
| Cxcl10 |
A |
G |
5: 92,496,083 (GRCm39) |
|
probably benign |
Het |
| Daam1 |
C |
A |
12: 71,990,923 (GRCm39) |
T179N |
unknown |
Het |
| Ddx24 |
T |
C |
12: 103,390,317 (GRCm39) |
K225E |
probably damaging |
Het |
| Dnajc16 |
T |
C |
4: 141,502,703 (GRCm39) |
T278A |
probably benign |
Het |
| Dnajc2 |
A |
T |
5: 21,966,709 (GRCm39) |
N345K |
possibly damaging |
Het |
| Dnpep |
G |
T |
1: 75,288,456 (GRCm39) |
Q395K |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,580,654 (GRCm39) |
|
probably null |
Het |
| Exoc1 |
A |
G |
5: 76,689,991 (GRCm39) |
D177G |
probably damaging |
Het |
| Fam135b |
C |
T |
15: 71,397,652 (GRCm39) |
R136H |
probably damaging |
Het |
| Filip1 |
T |
G |
9: 79,727,142 (GRCm39) |
L492F |
possibly damaging |
Het |
| Flvcr2 |
A |
T |
12: 85,843,002 (GRCm39) |
I359F |
possibly damaging |
Het |
| Gmcl1 |
A |
G |
6: 86,684,425 (GRCm39) |
W366R |
probably damaging |
Het |
| Htt |
A |
G |
5: 35,028,167 (GRCm39) |
T1808A |
possibly damaging |
Het |
| Ighv5-4 |
C |
A |
12: 113,561,249 (GRCm39) |
R57L |
probably damaging |
Het |
| Il12rb2 |
A |
T |
6: 67,337,674 (GRCm39) |
I69N |
probably damaging |
Het |
| Irf5 |
A |
T |
6: 29,529,424 (GRCm39) |
|
probably benign |
Het |
| Kif13b |
T |
G |
14: 65,025,854 (GRCm39) |
|
probably null |
Het |
| Klkb1 |
T |
A |
8: 45,723,703 (GRCm39) |
T571S |
probably benign |
Het |
| Mapkbp1 |
G |
T |
2: 119,854,413 (GRCm39) |
E1337* |
probably null |
Het |
| Met |
A |
G |
6: 17,491,538 (GRCm39) |
D100G |
probably benign |
Het |
| Mgam |
T |
A |
6: 40,721,282 (GRCm39) |
D183E |
probably benign |
Het |
| Mrgprb13 |
T |
C |
7: 47,962,007 (GRCm39) |
|
noncoding transcript |
Het |
| Mrgprx2 |
T |
C |
7: 48,131,994 (GRCm39) |
T275A |
probably benign |
Het |
| Mroh2a |
C |
A |
1: 88,169,337 (GRCm39) |
Q671K |
possibly damaging |
Het |
| Nckipsd |
T |
A |
9: 108,685,808 (GRCm39) |
S42R |
probably damaging |
Het |
| Nlrp12 |
T |
A |
7: 3,267,933 (GRCm39) |
|
probably benign |
Het |
| Or12j2 |
C |
T |
7: 139,916,513 (GRCm39) |
T246I |
probably benign |
Het |
| Or12k8 |
T |
A |
2: 36,974,990 (GRCm39) |
M257L |
probably benign |
Het |
| Or4k47 |
A |
T |
2: 111,451,778 (GRCm39) |
L214M |
probably damaging |
Het |
| Or5p5 |
C |
T |
7: 107,414,387 (GRCm39) |
P199S |
probably damaging |
Het |
| Otoa |
T |
A |
7: 120,731,583 (GRCm39) |
|
probably null |
Het |
| Pfkm |
T |
A |
15: 98,020,571 (GRCm39) |
C233* |
probably null |
Het |
| Pikfyve |
A |
G |
1: 65,241,896 (GRCm39) |
Y212C |
probably damaging |
Het |
| Ptprq |
T |
A |
10: 107,412,756 (GRCm39) |
D1781V |
possibly damaging |
Het |
| Pttg1ip |
A |
G |
10: 77,418,274 (GRCm39) |
|
probably benign |
Het |
| Rab6a |
T |
A |
7: 100,288,454 (GRCm39) |
|
probably null |
Het |
| Rbm11 |
C |
T |
16: 75,395,725 (GRCm39) |
A132V |
possibly damaging |
Het |
| Septin4 |
G |
T |
11: 87,479,750 (GRCm39) |
|
probably benign |
Het |
| Serpinb8 |
A |
G |
1: 107,533,575 (GRCm39) |
E210G |
probably damaging |
Het |
| Sertad2 |
G |
A |
11: 20,597,884 (GRCm39) |
G27S |
probably benign |
Het |
| Slco5a1 |
A |
G |
1: 13,060,626 (GRCm39) |
F32L |
probably benign |
Het |
| Smad2 |
A |
G |
18: 76,433,046 (GRCm39) |
E326G |
probably damaging |
Het |
| Sp9 |
T |
A |
2: 73,104,595 (GRCm39) |
L383Q |
probably damaging |
Het |
| Stx11 |
T |
C |
10: 12,817,559 (GRCm39) |
N55S |
probably damaging |
Het |
| Tbc1d15 |
T |
A |
10: 115,056,213 (GRCm39) |
Q253L |
probably benign |
Het |
| Tcf7l1 |
T |
A |
6: 72,614,034 (GRCm39) |
|
probably benign |
Het |
| Tdrd9 |
T |
A |
12: 112,009,153 (GRCm39) |
S1020T |
probably damaging |
Het |
| Tead3 |
A |
T |
17: 28,560,339 (GRCm39) |
D88E |
probably damaging |
Het |
| Tnrc18 |
A |
G |
5: 142,800,926 (GRCm39) |
S11P |
probably damaging |
Homo |
| Trpc3 |
G |
T |
3: 36,725,171 (GRCm39) |
D268E |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,576,085 (GRCm39) |
V23190A |
possibly damaging |
Het |
| Ubr4 |
T |
A |
4: 139,135,937 (GRCm39) |
Y908* |
probably null |
Het |
| Urb2 |
G |
T |
8: 124,757,595 (GRCm39) |
V1101L |
possibly damaging |
Het |
| Zcchc7 |
T |
C |
4: 44,895,838 (GRCm39) |
L262P |
probably damaging |
Het |
| Zdhhc7 |
T |
A |
8: 120,811,639 (GRCm39) |
H188L |
probably benign |
Het |
| Zfp518a |
T |
A |
19: 40,900,877 (GRCm39) |
C269S |
probably damaging |
Het |
| Zfp933 |
T |
C |
4: 147,911,231 (GRCm39) |
K90E |
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 |
|
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 |
|
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'- ACCAAAACTGAACTGTTCCTCTTG -3'
(R):5'- TGCACCTGTCAATATGATCTATTCC -3'
Sequencing Primer
(F):5'- GCAAATTTTCATAAAGAACACTCTGG -3'
(R):5'- GTCATGATCAGTAAGAGTAGA -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation