Incidental Mutation 'R3852:Dusp7'
ID |
275979 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dusp7
|
Ensembl Gene |
ENSMUSG00000053716 |
Gene Name |
dual specificity phosphatase 7 |
Synonyms |
PYST2, MKP-X |
MMRRC Submission |
040784-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.176)
|
Stock # |
R3852 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
106245831-106252923 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 106251092 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 406
(S406T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126984
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172306]
|
AlphaFold |
Q91Z46 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000172306
AA Change: S406T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000126984 Gene: ENSMUSG00000053716 AA Change: S406T
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
54 |
N/A |
INTRINSIC |
RHOD
|
58 |
187 |
4.5e-11 |
SMART |
low complexity region
|
195 |
213 |
N/A |
INTRINSIC |
DSPc
|
247 |
387 |
8.53e-71 |
SMART |
Blast:DSPc
|
393 |
416 |
8e-7 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173051
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173748
|
SMART Domains |
Protein: ENSMUSP00000133511 Gene: ENSMUSG00000053716
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
24 |
N/A |
INTRINSIC |
DSPc
|
58 |
214 |
4.41e-64 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193878
|
Meta Mutation Damage Score |
0.0697 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
96% (45/47) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dual-specificity phosphatases (DUSPs) constitute a large heterogeneous subgroup of the type I cysteine-based protein-tyrosine phosphatase superfamily. DUSPs are characterized by their ability to dephosphorylate both tyrosine and serine/threonine residues. DUSP7 belongs to a class of DUSPs, designated MKPs, that dephosphorylate MAPK (mitogen-activated protein kinase) proteins ERK (see MIM 601795), JNK (see MIM 601158), and p38 (see MIM 600289) with specificity distinct from that of individual MKP proteins. MKPs contain a highly conserved C-terminal catalytic domain and an N-terminal Cdc25 (see MIM 116947)-like (CH2) domain. MAPK activation cascades mediate various physiologic processes, including cellular proliferation, apoptosis, differentiation, and stress responses (summary by Patterson et al., 2009 [PubMed 19228121]).[supplied by OMIM, Dec 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf3 |
T |
C |
16: 20,379,189 (GRCm39) |
V685A |
probably damaging |
Het |
Abhd4 |
T |
C |
14: 54,502,824 (GRCm39) |
Y44H |
probably damaging |
Het |
AI429214 |
A |
G |
8: 37,461,596 (GRCm39) |
D248G |
probably damaging |
Het |
Aoc1l3 |
C |
T |
6: 48,964,928 (GRCm39) |
P312L |
possibly damaging |
Het |
AY358078 |
A |
G |
14: 52,043,010 (GRCm39) |
T233A |
unknown |
Het |
Calcr |
T |
C |
6: 3,693,735 (GRCm39) |
Y353C |
probably damaging |
Het |
Ccdc34 |
A |
G |
2: 109,862,773 (GRCm39) |
K193E |
possibly damaging |
Het |
Dhcr24 |
A |
G |
4: 106,431,070 (GRCm39) |
E253G |
probably benign |
Het |
Dnah6 |
A |
G |
6: 73,104,910 (GRCm39) |
V1841A |
possibly damaging |
Het |
Dpp10 |
A |
T |
1: 123,413,653 (GRCm39) |
Y186* |
probably null |
Het |
Dpysl4 |
C |
T |
7: 138,680,851 (GRCm39) |
T575M |
probably damaging |
Het |
Gga3 |
T |
A |
11: 115,478,368 (GRCm39) |
T475S |
probably benign |
Het |
Gm10271 |
T |
A |
10: 116,792,779 (GRCm39) |
K36* |
probably null |
Het |
Gm572 |
G |
A |
4: 148,753,329 (GRCm39) |
E325K |
possibly damaging |
Het |
Golga2 |
A |
G |
2: 32,195,623 (GRCm39) |
E806G |
probably benign |
Het |
Igf1 |
A |
T |
10: 87,751,181 (GRCm39) |
K126* |
probably null |
Het |
Itpkc |
A |
T |
7: 26,927,037 (GRCm39) |
N292K |
probably benign |
Het |
Klhl1 |
A |
T |
14: 96,517,641 (GRCm39) |
M345K |
probably benign |
Het |
Lrp2 |
A |
G |
2: 69,367,909 (GRCm39) |
V201A |
probably damaging |
Het |
Lrrc8a |
C |
T |
2: 30,151,972 (GRCm39) |
T757M |
probably benign |
Het |
Mios |
T |
A |
6: 8,216,453 (GRCm39) |
I459K |
probably benign |
Het |
Mrps11 |
T |
C |
7: 78,440,393 (GRCm39) |
I94T |
probably damaging |
Het |
Ms4a4c |
T |
A |
19: 11,393,759 (GRCm39) |
S68T |
probably benign |
Het |
Mstn |
C |
T |
1: 53,101,130 (GRCm39) |
T69I |
possibly damaging |
Het |
Myo10 |
A |
G |
15: 25,779,712 (GRCm39) |
K28E |
probably damaging |
Het |
Nol6 |
A |
G |
4: 41,117,452 (GRCm39) |
S914P |
probably damaging |
Het |
Ntn1 |
C |
G |
11: 68,276,619 (GRCm39) |
D110H |
probably damaging |
Het |
Or51f1e |
T |
C |
7: 102,747,391 (GRCm39) |
S148P |
probably damaging |
Het |
Or52b4 |
C |
A |
7: 102,184,487 (GRCm39) |
H178N |
probably benign |
Het |
Pcdh17 |
C |
T |
14: 84,684,699 (GRCm39) |
Q389* |
probably null |
Het |
Pik3r2 |
G |
A |
8: 71,223,065 (GRCm39) |
R452C |
probably benign |
Het |
Prr14l |
T |
C |
5: 32,987,689 (GRCm39) |
E602G |
probably damaging |
Het |
Rusc2 |
C |
A |
4: 43,416,424 (GRCm39) |
Q577K |
probably benign |
Het |
Sacm1l |
T |
A |
9: 123,416,641 (GRCm39) |
M534K |
probably damaging |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Slco4a1 |
C |
T |
2: 180,105,884 (GRCm39) |
T22M |
probably benign |
Het |
Tas2r104 |
A |
T |
6: 131,661,888 (GRCm39) |
C274S |
probably benign |
Het |
Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
Trim43c |
T |
A |
9: 88,722,454 (GRCm39) |
H33Q |
probably damaging |
Het |
Ttc17 |
A |
T |
2: 94,199,758 (GRCm39) |
I411K |
possibly damaging |
Het |
Ttn |
G |
T |
2: 76,581,678 (GRCm39) |
L23072I |
possibly damaging |
Het |
Ttn |
A |
C |
2: 76,785,368 (GRCm39) |
V669G |
possibly damaging |
Het |
Vmn1r60 |
A |
T |
7: 5,548,026 (GRCm39) |
F25I |
possibly damaging |
Het |
Vmn2r9 |
A |
G |
5: 108,995,997 (GRCm39) |
I217T |
probably damaging |
Het |
|
Other mutations in Dusp7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03181:Dusp7
|
APN |
9 |
106,251,009 (GRCm39) |
missense |
probably damaging |
1.00 |
alessi
|
UTSW |
9 |
106,250,940 (GRCm39) |
missense |
probably damaging |
1.00 |
R1118:Dusp7
|
UTSW |
9 |
106,250,849 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1952:Dusp7
|
UTSW |
9 |
106,248,028 (GRCm39) |
missense |
probably benign |
0.05 |
R2049:Dusp7
|
UTSW |
9 |
106,251,096 (GRCm39) |
missense |
probably damaging |
1.00 |
R2408:Dusp7
|
UTSW |
9 |
106,246,361 (GRCm39) |
missense |
probably benign |
0.30 |
R4632:Dusp7
|
UTSW |
9 |
106,247,965 (GRCm39) |
missense |
possibly damaging |
0.64 |
R5022:Dusp7
|
UTSW |
9 |
106,250,940 (GRCm39) |
missense |
probably damaging |
1.00 |
R6273:Dusp7
|
UTSW |
9 |
106,251,095 (GRCm39) |
missense |
possibly damaging |
0.57 |
R6525:Dusp7
|
UTSW |
9 |
106,246,483 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7161:Dusp7
|
UTSW |
9 |
106,246,114 (GRCm39) |
missense |
unknown |
|
R7575:Dusp7
|
UTSW |
9 |
106,250,876 (GRCm39) |
missense |
probably damaging |
1.00 |
R7818:Dusp7
|
UTSW |
9 |
106,246,329 (GRCm39) |
missense |
probably benign |
0.28 |
R7856:Dusp7
|
UTSW |
9 |
106,246,067 (GRCm39) |
missense |
unknown |
|
R8811:Dusp7
|
UTSW |
9 |
106,248,241 (GRCm39) |
missense |
probably benign |
0.04 |
R9126:Dusp7
|
UTSW |
9 |
106,250,966 (GRCm39) |
missense |
|
|
R9219:Dusp7
|
UTSW |
9 |
106,248,212 (GRCm39) |
missense |
probably damaging |
1.00 |
R9511:Dusp7
|
UTSW |
9 |
106,248,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCCAAGAAGTGTGGTGTCTTG -3'
(R):5'- TCTGGACACAGGTGACATCTG -3'
Sequencing Primer
(F):5'- AGCCGTTCAGTGACAGTTAC -3'
(R):5'- ACATCTGTGGGTTCTTCAGGCC -3'
|
Posted On |
2015-04-06 |