Incidental Mutation 'R6890:Dusp10'
| ID |
537142 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dusp10
|
| Ensembl Gene |
ENSMUSG00000039384 |
| Gene Name |
dual specificity phosphatase 10 |
| Synonyms |
MKP5, 2610306G15Rik, MKP-5 |
| MMRRC Submission |
044984-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.734)
|
| Stock # |
R6890 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
183766575-183807833 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 183801393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Aspartic acid
at position 387
(Y387D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048655]
|
| AlphaFold |
Q9ESS0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048655
AA Change: Y387D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045838
Gene: ENSMUSG00000039384
AA Change: Y387D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
111 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
142 |
N/A |
INTRINSIC |
|
RHOD
|
159 |
283 |
1.71e-11 |
SMART |
|
DSPc
|
322 |
462 |
1.43e-54 |
SMART |
|
| Meta Mutation Damage Score |
0.8616 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dual specificity protein phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the MAP kinase superfamily, which is associated with cellular proliferation and differentiation. Different members of this family of dual specificity phosphatases show distinct substrate specificities for MAP kinases, different tissue distribution and subcellular localization, and different modes of expression induction by extracellular stimuli. This gene product binds to and inactivates p38 and SAPK/JNK. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a knock-out allele display alterations in both innate and adaptive immune responses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg3 |
T |
C |
16: 20,424,736 (GRCm39) |
T270A |
possibly damaging |
Het |
| Ambp |
G |
C |
4: 63,068,596 (GRCm39) |
H140Q |
probably benign |
Het |
| Arhgef10 |
T |
C |
8: 14,978,786 (GRCm39) |
C18R |
probably benign |
Het |
| Arhgef10l |
A |
G |
4: 140,271,730 (GRCm39) |
F548S |
probably damaging |
Het |
| Armh3 |
A |
G |
19: 45,948,796 (GRCm39) |
Y228H |
probably damaging |
Het |
| Cdhr1 |
T |
C |
14: 36,807,602 (GRCm39) |
D346G |
probably damaging |
Het |
| Col18a1 |
T |
A |
10: 76,949,318 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
T |
A |
6: 4,539,587 (GRCm39) |
L1285Q |
unknown |
Het |
| Cspg5 |
T |
C |
9: 110,075,852 (GRCm39) |
L196P |
probably damaging |
Het |
| Epb41 |
A |
T |
4: 131,663,140 (GRCm39) |
D681E |
probably damaging |
Het |
| Eps8 |
A |
G |
6: 137,489,255 (GRCm39) |
V381A |
probably damaging |
Het |
| Fbxw16 |
A |
T |
9: 109,265,810 (GRCm39) |
S336R |
probably benign |
Het |
| Gm49368 |
A |
G |
7: 127,680,901 (GRCm39) |
R277G |
probably benign |
Het |
| Gsg1 |
C |
T |
6: 135,214,418 (GRCm39) |
V320I |
probably benign |
Het |
| Iglc3 |
T |
A |
16: 18,884,258 (GRCm39) |
|
probably benign |
Het |
| Klc4 |
A |
T |
17: 46,942,769 (GRCm39) |
N598K |
probably benign |
Het |
| Malsu1 |
A |
G |
6: 49,052,185 (GRCm39) |
Y135C |
probably damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,846,283 (GRCm39) |
I477T |
probably damaging |
Het |
| Mtss1 |
G |
T |
15: 58,823,508 (GRCm39) |
S286R |
probably damaging |
Het |
| Naip2 |
A |
C |
13: 100,298,549 (GRCm39) |
S496A |
probably benign |
Het |
| Niban3 |
T |
A |
8: 72,058,315 (GRCm39) |
V540D |
probably damaging |
Het |
| Npepps |
A |
T |
11: 97,158,470 (GRCm39) |
C98* |
probably null |
Het |
| Nphp3 |
A |
C |
9: 103,919,153 (GRCm39) |
Y1267S |
probably damaging |
Het |
| Npr3 |
A |
G |
15: 11,883,478 (GRCm39) |
V317A |
possibly damaging |
Het |
| Nsun6 |
A |
G |
2: 15,053,788 (GRCm39) |
I7T |
probably damaging |
Het |
| Or13p4 |
A |
G |
4: 118,546,728 (GRCm39) |
V307A |
possibly damaging |
Het |
| Or51ai2 |
A |
T |
7: 103,587,066 (GRCm39) |
T160S |
possibly damaging |
Het |
| Or5b121 |
C |
T |
19: 13,507,445 (GRCm39) |
T180I |
probably damaging |
Het |
| Pcnx1 |
A |
G |
12: 82,018,150 (GRCm39) |
H1330R |
probably benign |
Het |
| Rad17 |
T |
C |
13: 100,773,592 (GRCm39) |
I201V |
probably benign |
Het |
| Slc26a4 |
G |
A |
12: 31,599,950 (GRCm39) |
T126M |
possibly damaging |
Het |
| Slitrk6 |
A |
T |
14: 110,988,528 (GRCm39) |
L393* |
probably null |
Het |
| Snx2 |
A |
G |
18: 53,345,951 (GRCm39) |
H378R |
probably damaging |
Het |
| Tex21 |
A |
G |
12: 76,286,229 (GRCm39) |
|
probably null |
Het |
| Trio |
A |
T |
15: 27,919,374 (GRCm39) |
|
probably benign |
Het |
| Vpreb1b |
T |
C |
16: 17,798,820 (GRCm39) |
I102T |
probably damaging |
Het |
| Zfp617 |
T |
G |
8: 72,686,010 (GRCm39) |
H113Q |
probably benign |
Het |
| Zgpat |
T |
A |
2: 181,020,304 (GRCm39) |
I237N |
probably damaging |
Het |
|
| Other mutations in Dusp10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00335:Dusp10
|
APN |
1 |
183,801,328 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01094:Dusp10
|
APN |
1 |
183,769,697 (GRCm39) |
splice site |
probably null |
|
|
IGL01380:Dusp10
|
APN |
1 |
183,801,211 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
FR4449:Dusp10
|
UTSW |
1 |
183,769,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4548:Dusp10
|
UTSW |
1 |
183,769,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4737:Dusp10
|
UTSW |
1 |
183,769,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4976:Dusp10
|
UTSW |
1 |
183,769,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
LCD18:Dusp10
|
UTSW |
1 |
183,769,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0369:Dusp10
|
UTSW |
1 |
183,801,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0433:Dusp10
|
UTSW |
1 |
183,801,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0464:Dusp10
|
UTSW |
1 |
183,801,273 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1112:Dusp10
|
UTSW |
1 |
183,769,097 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1474:Dusp10
|
UTSW |
1 |
183,769,645 (GRCm39) |
splice site |
probably null |
|
|
R1667:Dusp10
|
UTSW |
1 |
183,769,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1719:Dusp10
|
UTSW |
1 |
183,769,422 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1899:Dusp10
|
UTSW |
1 |
183,801,377 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5238:Dusp10
|
UTSW |
1 |
183,769,210 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5277:Dusp10
|
UTSW |
1 |
183,769,204 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5742:Dusp10
|
UTSW |
1 |
183,769,853 (GRCm39) |
splice site |
probably null |
|
|
R5948:Dusp10
|
UTSW |
1 |
183,801,073 (GRCm39) |
missense |
probably benign |
|
|
R6969:Dusp10
|
UTSW |
1 |
183,801,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7007:Dusp10
|
UTSW |
1 |
183,769,414 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7033:Dusp10
|
UTSW |
1 |
183,769,802 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7436:Dusp10
|
UTSW |
1 |
183,801,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7447:Dusp10
|
UTSW |
1 |
183,801,153 (GRCm39) |
missense |
probably benign |
|
|
R7479:Dusp10
|
UTSW |
1 |
183,769,617 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7572:Dusp10
|
UTSW |
1 |
183,806,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8191:Dusp10
|
UTSW |
1 |
183,769,749 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8201:Dusp10
|
UTSW |
1 |
183,769,202 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9429:Dusp10
|
UTSW |
1 |
183,801,091 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9466:Dusp10
|
UTSW |
1 |
183,769,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9593:Dusp10
|
UTSW |
1 |
183,806,643 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Dusp10
|
UTSW |
1 |
183,801,189 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCCTGTTCCTCGGCAATGAG -3'
(R):5'- ATTATGCCCATCCAGGTAGTTCTG -3'
Sequencing Primer
(F):5'- TTCCTCGGCAATGAGCAGGATG -3'
(R):5'- CATCCAGGTAGTTCTGAGACTAACAG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation