Incidental Mutation 'IGL00844:Usp9x'
ID |
14749 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Usp9x
|
Ensembl Gene |
ENSMUSG00000031010 |
Gene Name |
ubiquitin specific peptidase 9, X chromosome |
Synonyms |
Dffrx, Fafl, 5730589N07Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.941)
|
Stock # |
IGL00844
|
Quality Score |
|
Status
|
|
Chromosome |
X |
Chromosomal Location |
12937737-13039567 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 12994685 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 959
(S959A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000086716
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089302]
[ENSMUST00000169594]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000089302
AA Change: S959A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000086716 Gene: ENSMUSG00000031010 AA Change: S959A
Domain | Start | End | E-Value | Type |
SCOP:d1qbkb_
|
249 |
610 |
1e-4 |
SMART |
Blast:ANK
|
872 |
901 |
1e-6 |
BLAST |
low complexity region
|
969 |
989 |
N/A |
INTRINSIC |
low complexity region
|
1067 |
1084 |
N/A |
INTRINSIC |
low complexity region
|
1147 |
1162 |
N/A |
INTRINSIC |
low complexity region
|
1350 |
1361 |
N/A |
INTRINSIC |
Pfam:UCH
|
1556 |
1953 |
8.3e-56 |
PFAM |
Pfam:UCH_1
|
1557 |
1907 |
5e-24 |
PFAM |
low complexity region
|
2333 |
2345 |
N/A |
INTRINSIC |
low complexity region
|
2475 |
2487 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124097
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169594
|
SMART Domains |
Protein: ENSMUSP00000129373 Gene: ENSMUSG00000031010
Domain | Start | End | E-Value | Type |
SCOP:d1qbkb_
|
249 |
610 |
7e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174762
|
Coding Region Coverage |
|
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 and encodes a protein that is similar to ubiquitin-specific proteases. Though this gene is located on the X chromosome, it escapes X-inactivation. Mutations in this gene have been associated with Turner syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] PHENOTYPE: In a conditional model of pancreatic ductal carcinoma, hemizygous males and heterozygous females with a conditional allele exhibit accelerated tumorigenesis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
A |
T |
14: 32,384,956 (GRCm39) |
C336* |
probably null |
Het |
Adgrv1 |
T |
C |
13: 81,688,238 (GRCm39) |
D994G |
probably damaging |
Het |
Arhgap36 |
G |
T |
X: 48,586,631 (GRCm39) |
Q421H |
probably damaging |
Het |
Arhgef17 |
A |
G |
7: 100,578,656 (GRCm39) |
V764A |
probably benign |
Het |
Atf7ip |
T |
C |
6: 136,537,679 (GRCm39) |
V304A |
probably benign |
Het |
Babam2 |
T |
A |
5: 32,164,651 (GRCm39) |
F299L |
probably damaging |
Het |
Ceacam11 |
T |
G |
7: 17,707,595 (GRCm39) |
D126E |
possibly damaging |
Het |
Dlg3 |
C |
A |
X: 99,850,199 (GRCm39) |
H197Q |
probably damaging |
Het |
Dnmt3a |
T |
A |
12: 3,955,622 (GRCm39) |
L590Q |
probably damaging |
Het |
Fras1 |
A |
G |
5: 96,682,712 (GRCm39) |
|
probably benign |
Het |
Gabarapl1 |
T |
C |
6: 129,515,598 (GRCm39) |
F79L |
probably benign |
Het |
Gabbr2 |
A |
G |
4: 46,875,711 (GRCm39) |
V137A |
probably damaging |
Het |
Gphn |
T |
C |
12: 78,711,342 (GRCm39) |
|
probably benign |
Het |
Hnrnpr |
A |
G |
4: 136,066,516 (GRCm39) |
I399M |
probably benign |
Het |
Madd |
A |
C |
2: 90,998,213 (GRCm39) |
S636A |
probably damaging |
Het |
Pi15 |
T |
C |
1: 17,691,764 (GRCm39) |
|
probably benign |
Het |
Ppp3cb |
A |
T |
14: 20,581,754 (GRCm39) |
M87K |
possibly damaging |
Het |
Ptpro |
C |
A |
6: 137,391,237 (GRCm39) |
H786N |
probably damaging |
Het |
Rnase11 |
T |
C |
14: 51,287,213 (GRCm39) |
I114V |
possibly damaging |
Het |
Sirt4 |
A |
G |
5: 115,617,685 (GRCm39) |
|
probably null |
Het |
Stab1 |
T |
C |
14: 30,869,023 (GRCm39) |
D1534G |
probably damaging |
Het |
Sulf2 |
A |
G |
2: 165,936,412 (GRCm39) |
S185P |
possibly damaging |
Het |
Svs6 |
A |
C |
2: 164,159,507 (GRCm39) |
K90T |
possibly damaging |
Het |
Tdrd6 |
A |
G |
17: 43,928,087 (GRCm39) |
M2102T |
probably benign |
Het |
Ttll5 |
T |
C |
12: 85,890,600 (GRCm39) |
V77A |
probably damaging |
Het |
Vps50 |
C |
T |
6: 3,532,177 (GRCm39) |
Q227* |
probably null |
Het |
Zfp57 |
C |
A |
17: 37,320,514 (GRCm39) |
Q120K |
possibly damaging |
Het |
Zswim2 |
T |
C |
2: 83,754,115 (GRCm39) |
N182D |
probably benign |
Het |
|
Other mutations in Usp9x |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00541:Usp9x
|
APN |
X |
13,007,985 (GRCm39) |
missense |
probably benign |
|
IGL00572:Usp9x
|
APN |
X |
12,991,815 (GRCm39) |
missense |
probably benign |
|
IGL01104:Usp9x
|
APN |
X |
13,027,142 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01139:Usp9x
|
APN |
X |
12,970,815 (GRCm39) |
splice site |
probably benign |
|
IGL01413:Usp9x
|
APN |
X |
13,017,579 (GRCm39) |
missense |
probably benign |
0.26 |
R3545:Usp9x
|
UTSW |
X |
12,994,629 (GRCm39) |
missense |
probably benign |
0.00 |
R3547:Usp9x
|
UTSW |
X |
12,994,629 (GRCm39) |
missense |
probably benign |
0.00 |
R3853:Usp9x
|
UTSW |
X |
12,964,822 (GRCm39) |
missense |
probably benign |
0.01 |
R4483:Usp9x
|
UTSW |
X |
12,987,687 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4660:Usp9x
|
UTSW |
X |
12,989,747 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4661:Usp9x
|
UTSW |
X |
12,989,747 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4662:Usp9x
|
UTSW |
X |
12,989,747 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Posted On |
2012-12-06 |