Incidental Mutation 'IGL01104:Usp9x'
| ID |
53333 |
| 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 # |
IGL01104
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
12937737-13039567 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13027142 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 16
(V16A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134612
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089302]
[ENSMUST00000133997]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089302
AA Change: V2241A
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000086716
Gene: ENSMUSG00000031010
AA Change: V2241A
| 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 |
probably damaging
Transcript: ENSMUST00000133997
AA Change: V16A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134612
Gene: ENSMUSG00000031010
AA Change: V16A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
108 |
120 |
N/A |
INTRINSIC |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap1 |
T |
A |
1: 89,653,797 (GRCm39) |
|
probably benign |
Het |
| AU015836 |
A |
T |
X: 93,015,493 (GRCm39) |
D15V |
probably damaging |
Het |
| Capns2 |
G |
T |
8: 93,628,383 (GRCm39) |
D91Y |
probably damaging |
Het |
| Chd6 |
C |
T |
2: 160,803,847 (GRCm39) |
R2071Q |
probably damaging |
Het |
| Col4a4 |
G |
T |
1: 82,444,266 (GRCm39) |
P1334T |
unknown |
Het |
| Dusp12 |
T |
G |
1: 170,702,042 (GRCm39) |
H319P |
probably damaging |
Het |
| Emilin3 |
A |
T |
2: 160,751,703 (GRCm39) |
V112E |
probably damaging |
Het |
| Eya3 |
T |
A |
4: 132,439,240 (GRCm39) |
F455L |
probably damaging |
Het |
| F10 |
G |
A |
8: 13,105,686 (GRCm39) |
G417D |
probably damaging |
Het |
| Fat3 |
A |
C |
9: 16,287,024 (GRCm39) |
V833G |
possibly damaging |
Het |
| Fat3 |
A |
T |
9: 15,909,756 (GRCm39) |
L2082H |
probably damaging |
Het |
| Golga5 |
T |
A |
12: 102,460,073 (GRCm39) |
M667K |
probably damaging |
Het |
| Gpr50 |
T |
A |
X: 70,710,833 (GRCm39) |
L305H |
probably damaging |
Het |
| Grhl1 |
A |
G |
12: 24,634,453 (GRCm39) |
K217R |
probably damaging |
Het |
| Itgb2 |
A |
G |
10: 77,383,028 (GRCm39) |
|
probably null |
Het |
| Jag1 |
T |
A |
2: 136,926,298 (GRCm39) |
I1035L |
probably benign |
Het |
| Kdm2a |
A |
G |
19: 4,406,766 (GRCm39) |
|
probably benign |
Het |
| Lima1 |
A |
C |
15: 99,741,581 (GRCm39) |
S32A |
probably damaging |
Het |
| Lmod1 |
C |
T |
1: 135,292,522 (GRCm39) |
T459I |
probably damaging |
Het |
| Mtch1 |
T |
C |
17: 29,555,196 (GRCm39) |
D284G |
probably damaging |
Het |
| Mtus2 |
C |
T |
5: 148,013,819 (GRCm39) |
|
probably null |
Het |
| Or7c19 |
A |
G |
8: 85,957,813 (GRCm39) |
T230A |
probably benign |
Het |
| Ppl |
T |
C |
16: 4,912,355 (GRCm39) |
Q742R |
probably benign |
Het |
| Reln |
T |
C |
5: 22,191,965 (GRCm39) |
R1492G |
probably damaging |
Het |
| Rsad1 |
T |
C |
11: 94,434,466 (GRCm39) |
T323A |
possibly damaging |
Het |
| Slc22a8 |
A |
G |
19: 8,585,329 (GRCm39) |
T293A |
possibly damaging |
Het |
| Smc4 |
T |
C |
3: 68,934,917 (GRCm39) |
I677T |
possibly damaging |
Het |
| Ufd1 |
T |
C |
16: 18,633,587 (GRCm39) |
F4S |
probably damaging |
Het |
| Vmn2r31 |
A |
T |
7: 7,399,565 (GRCm39) |
C131S |
probably damaging |
Het |
| Vmn2r65 |
A |
G |
7: 84,589,996 (GRCm39) |
I640T |
possibly damaging |
Het |
| Vwf |
T |
C |
6: 125,660,519 (GRCm39) |
C2676R |
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 |
|
|
IGL00572:Usp9x
|
APN |
X |
12,991,815 (GRCm39) |
missense |
probably benign |
|
|
IGL00844:Usp9x
|
APN |
X |
12,994,685 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2013-06-21 |
Incidental Mutation