Incidental Mutation 'R3545:Usp9x'
ID |
268183 |
Institutional Source |
Beutler Lab
|
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 # |
R3545 (G1)
|
Quality Score |
222 |
Status
|
Not validated
|
Chromosome |
X |
Chromosomal Location |
12937737-13039567 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 12994629 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 940
(L940P)
|
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: L940P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000086716 Gene: ENSMUSG00000031010 AA Change: L940P
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
|
Meta Mutation Damage Score |
0.1219 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd28 |
A |
G |
14: 31,437,217 (GRCm39) |
L646S |
probably benign |
Het |
Clip1 |
A |
G |
5: 123,769,141 (GRCm39) |
L532P |
probably damaging |
Het |
Efl1 |
A |
T |
7: 82,412,018 (GRCm39) |
E802D |
probably benign |
Het |
F11r |
T |
C |
1: 171,288,829 (GRCm39) |
V149A |
probably damaging |
Het |
Fhit |
T |
C |
14: 9,870,095 (GRCm38) |
T125A |
probably benign |
Het |
Fmn2 |
A |
G |
1: 174,330,192 (GRCm39) |
D194G |
unknown |
Het |
Gdi1 |
T |
A |
X: 73,351,414 (GRCm39) |
F175L |
possibly damaging |
Het |
Herc3 |
T |
C |
6: 58,833,670 (GRCm39) |
S186P |
probably damaging |
Het |
Hexa |
A |
G |
9: 59,464,581 (GRCm39) |
N157S |
probably damaging |
Het |
Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
Lig1 |
T |
A |
7: 13,026,089 (GRCm39) |
N281K |
possibly damaging |
Het |
Lrp1b |
A |
T |
2: 40,490,300 (GRCm39) |
L287H |
probably damaging |
Het |
Mcf2 |
T |
C |
X: 59,180,806 (GRCm39) |
K74R |
probably damaging |
Het |
Nat1 |
A |
G |
8: 67,943,684 (GRCm39) |
D23G |
possibly damaging |
Het |
Nbeal1 |
T |
C |
1: 60,317,939 (GRCm39) |
F1959L |
probably damaging |
Het |
Ncf1 |
T |
A |
5: 134,255,463 (GRCm39) |
K143* |
probably null |
Het |
Nid2 |
T |
A |
14: 19,813,779 (GRCm39) |
Y195N |
probably damaging |
Het |
Nlrp9a |
T |
C |
7: 26,256,757 (GRCm39) |
I125T |
probably benign |
Het |
Nme7 |
T |
C |
1: 164,213,351 (GRCm39) |
F343S |
probably damaging |
Het |
Otud4 |
A |
G |
8: 80,391,684 (GRCm39) |
E443G |
probably damaging |
Het |
Palld |
G |
T |
8: 62,003,112 (GRCm39) |
A329E |
possibly damaging |
Het |
Pask |
A |
T |
1: 93,244,837 (GRCm39) |
V1095D |
probably damaging |
Het |
Pdzd2 |
C |
T |
15: 12,375,557 (GRCm39) |
R1526Q |
probably benign |
Het |
Prkcq |
A |
G |
2: 11,288,627 (GRCm39) |
K527E |
probably benign |
Het |
Ramac |
T |
A |
7: 81,418,270 (GRCm39) |
|
probably null |
Het |
Reln |
A |
G |
5: 22,432,598 (GRCm39) |
V134A |
possibly damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Septin9 |
T |
C |
11: 117,243,499 (GRCm39) |
I350T |
probably damaging |
Het |
Slc16a7 |
T |
A |
10: 125,130,569 (GRCm39) |
K39* |
probably null |
Het |
Spata32 |
T |
C |
11: 103,101,570 (GRCm39) |
E21G |
possibly damaging |
Het |
Tbc1d1 |
G |
A |
5: 64,443,350 (GRCm39) |
R523Q |
probably damaging |
Het |
Thnsl1 |
T |
G |
2: 21,217,438 (GRCm39) |
D397E |
probably benign |
Het |
Tubal3 |
T |
G |
13: 3,983,560 (GRCm39) |
*447G |
probably null |
Het |
Uprt |
T |
A |
X: 103,526,934 (GRCm39) |
L123H |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTGGCAGCTAAATTTGGAGATTTGC -3'
(R):5'- TCCAACGCATGTCTGAGTTAG -3'
Sequencing Primer
(F):5'- GAGCTTTCCGTGGTAAACAC -3'
(R):5'- GAAATACAGGGTGAGGTTCTA -3'
|
Posted On |
2015-02-19 |