Incidental Mutation 'IGL00572:Usp9x'
| ID |
332665 |
| 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: 0.946)
|
| Stock # |
IGL00572
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
12937737-13039567 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 12991815 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 869
(H869N)
|
| 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: H869N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000086716
Gene: ENSMUSG00000031010
AA Change: H869N
| 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 |
noncoding transcript
Transcript: ENSMUST00000139764
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149021
|
| SMART Domains |
Protein: ENSMUSP00000133948
Gene: ENSMUSG00000031010
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
74 |
84 |
N/A |
INTRINSIC |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre4 |
A |
G |
17: 56,127,648 (GRCm39) |
I563V |
probably benign |
Het |
| Adgrl2 |
A |
G |
3: 148,532,134 (GRCm39) |
L1033P |
probably damaging |
Het |
| Aqr |
A |
C |
2: 113,956,423 (GRCm39) |
I840M |
possibly damaging |
Het |
| Bmper |
G |
A |
9: 23,317,823 (GRCm39) |
V481M |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,463,595 (GRCm39) |
E683G |
probably damaging |
Het |
| Cpn1 |
A |
G |
19: 43,952,268 (GRCm39) |
V338A |
probably damaging |
Het |
| Cs |
A |
G |
10: 128,196,833 (GRCm39) |
|
probably benign |
Het |
| Gm4540 |
C |
T |
3: 105,942,123 (GRCm39) |
|
probably benign |
Het |
| Hdc |
A |
G |
2: 126,443,792 (GRCm39) |
F296L |
probably benign |
Het |
| Helt |
T |
C |
8: 46,746,559 (GRCm39) |
E32G |
probably damaging |
Het |
| Hivep1 |
C |
T |
13: 42,312,347 (GRCm39) |
A1529V |
probably benign |
Het |
| Klk1b4 |
A |
T |
7: 43,860,198 (GRCm39) |
H104L |
possibly damaging |
Het |
| Lrrc37 |
A |
G |
11: 103,506,236 (GRCm39) |
F1911L |
probably benign |
Het |
| Ncf2 |
C |
A |
1: 152,683,925 (GRCm39) |
T48N |
possibly damaging |
Het |
| Phkg1 |
G |
A |
5: 129,893,914 (GRCm39) |
Q274* |
probably null |
Het |
| Slc1a2 |
A |
G |
2: 102,607,921 (GRCm39) |
D520G |
possibly damaging |
Het |
| Slc25a10 |
G |
T |
11: 120,387,933 (GRCm39) |
|
probably null |
Het |
| Slc8a1 |
A |
T |
17: 81,696,155 (GRCm39) |
S960T |
probably damaging |
Het |
| Sp140 |
G |
A |
1: 85,549,393 (GRCm39) |
R208K |
probably benign |
Het |
| St7 |
A |
G |
6: 17,855,005 (GRCm39) |
E245G |
probably damaging |
Het |
| Sypl1 |
T |
A |
12: 33,004,293 (GRCm39) |
S2T |
probably damaging |
Het |
| Tbx20 |
T |
C |
9: 24,636,984 (GRCm39) |
T368A |
probably benign |
Het |
| Tmem126a |
T |
C |
7: 90,100,040 (GRCm39) |
T168A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,576,934 (GRCm39) |
D24653G |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,777,323 (GRCm39) |
S1360P |
probably damaging |
Het |
| Uggt2 |
A |
T |
14: 119,280,203 (GRCm39) |
F282L |
probably benign |
Het |
| Usp36 |
A |
T |
11: 118,155,646 (GRCm39) |
N875K |
possibly damaging |
Het |
| Xpnpep1 |
T |
C |
19: 52,998,579 (GRCm39) |
E223G |
probably benign |
Het |
| Zfp729a |
G |
A |
13: 67,767,440 (GRCm39) |
P930S |
probably benign |
Het |
| Zscan10 |
G |
A |
17: 23,828,435 (GRCm39) |
V216M |
probably damaging |
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 |
|
|
IGL00844:Usp9x
|
APN |
X |
12,994,685 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2015-08-05 |
Incidental Mutation