Incidental Mutation 'R2408:Dusp7'
| ID |
332085 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dusp7
|
| Ensembl Gene |
ENSMUSG00000053716 |
| Gene Name |
dual specificity phosphatase 7 |
| Synonyms |
PYST2, MKP-X |
| MMRRC Submission |
040374-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.176)
|
| Stock # |
R2408 (G1)
|
| Quality Score |
51 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
106245831-106252923 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 106246361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 122
(A122V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126984
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172306]
|
| AlphaFold |
Q91Z46 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172306
AA Change: A122V
PolyPhen 2
Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000126984
Gene: ENSMUSG00000053716
AA Change: A122V
| 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 |
|
| Meta Mutation Damage Score |
0.0686 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.8%
|
| Validation Efficiency |
97% (33/34) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg1 |
T |
G |
8: 95,730,121 (GRCm39) |
L103V |
probably null |
Het |
| BC051076 |
C |
T |
5: 88,111,684 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc191 |
A |
T |
16: 43,751,561 (GRCm39) |
Q239L |
probably benign |
Het |
| Dennd4b |
G |
T |
3: 90,178,882 (GRCm39) |
G538* |
probably null |
Het |
| Dipk1a |
T |
C |
5: 108,062,291 (GRCm39) |
D78G |
possibly damaging |
Het |
| Exd2 |
T |
G |
12: 80,531,015 (GRCm39) |
|
probably benign |
Het |
| Gm10782 |
C |
A |
13: 56,510,944 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5117 |
T |
C |
8: 32,227,306 (GRCm39) |
|
noncoding transcript |
Het |
| Hhipl1 |
T |
A |
12: 108,284,806 (GRCm39) |
D386E |
probably benign |
Het |
| Hnf1a |
C |
T |
5: 115,098,070 (GRCm39) |
|
probably null |
Het |
| Ifi204 |
A |
G |
1: 173,583,198 (GRCm39) |
F340S |
possibly damaging |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Med26 |
T |
C |
8: 73,249,476 (GRCm39) |
D541G |
probably benign |
Het |
| Mgam |
T |
A |
6: 40,663,456 (GRCm39) |
L1218Q |
probably damaging |
Het |
| Msh5 |
T |
C |
17: 35,264,095 (GRCm39) |
D136G |
probably damaging |
Het |
| Nbl1 |
C |
T |
4: 138,810,843 (GRCm39) |
C117Y |
probably damaging |
Het |
| Niban2 |
A |
G |
2: 32,813,482 (GRCm39) |
Y565C |
probably damaging |
Het |
| Noct |
T |
C |
3: 51,132,710 (GRCm39) |
|
probably null |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Prmt2 |
A |
T |
10: 76,044,301 (GRCm39) |
M417K |
probably damaging |
Het |
| Rptor |
A |
G |
11: 119,748,277 (GRCm39) |
E3G |
probably damaging |
Het |
| Sgms1 |
G |
A |
19: 32,137,072 (GRCm39) |
R165* |
probably null |
Het |
| Slc13a5 |
A |
G |
11: 72,152,902 (GRCm39) |
S60P |
probably damaging |
Het |
| Sycp1 |
T |
C |
3: 102,832,575 (GRCm39) |
Y197C |
probably damaging |
Het |
| Tmem222 |
T |
C |
4: 132,998,335 (GRCm39) |
H73R |
possibly damaging |
Het |
| Trmt1l |
G |
A |
1: 151,315,267 (GRCm39) |
G151D |
possibly damaging |
Het |
| Ttc16 |
A |
G |
2: 32,658,020 (GRCm39) |
F409L |
probably benign |
Het |
| Ubap2l |
T |
C |
3: 89,916,439 (GRCm39) |
Q925R |
probably null |
Het |
| Ucn3 |
T |
G |
13: 3,991,413 (GRCm39) |
I80L |
probably benign |
Het |
| Vwa3a |
T |
C |
7: 120,372,517 (GRCm39) |
S302P |
probably benign |
Het |
| Zfp804b |
A |
T |
5: 7,229,410 (GRCm39) |
|
probably benign |
Het |
| Zmynd19 |
A |
G |
2: 24,848,937 (GRCm39) |
E144G |
possibly 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 |
|
R3852:Dusp7
|
UTSW |
9 |
106,251,092 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- CGGAGCCGCGGTTTAATTG -3'
(R):5'- TTCTGTCCTCACCTTGGAGG -3'
Sequencing Primer
(F):5'- GCGCACATGTCGACTTCG -3'
(R):5'- AGGTAGTAGGCCTGGCAGC -3'
|
| Posted On |
2015-07-27 |
Incidental Mutation