Incidental Mutation 'R7856:Dusp7'
| ID |
607242 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dusp7
|
| Ensembl Gene |
ENSMUSG00000053716 |
| Gene Name |
dual specificity phosphatase 7 |
| Synonyms |
PYST2, MKP-X |
| MMRRC Submission |
045909-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.212)
|
| Stock # |
R7856 (G1)
|
| Quality Score |
186.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
106245831-106252923 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 106246067 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 24
(A24E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126984
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172306]
|
| AlphaFold |
Q91Z46 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000172306
AA Change: A24E
|
| SMART Domains |
Protein: ENSMUSP00000126984
Gene: ENSMUSG00000053716
AA Change: A24E
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (36/36) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna1h |
T |
C |
17: 25,608,451 (GRCm39) |
T819A |
probably damaging |
Het |
| Ccdc34 |
T |
A |
2: 109,874,572 (GRCm39) |
Y310* |
probably null |
Het |
| Ccdc63 |
A |
G |
5: 122,268,006 (GRCm39) |
W8R |
probably benign |
Het |
| Ces2g |
G |
A |
8: 105,693,014 (GRCm39) |
V351I |
not run |
Het |
| Ces3b |
A |
G |
8: 105,819,894 (GRCm39) |
*572W |
probably null |
Het |
| Dgka |
T |
C |
10: 128,572,533 (GRCm39) |
N40S |
probably benign |
Het |
| Dnajc13 |
C |
A |
9: 104,044,684 (GRCm39) |
R1835L |
possibly damaging |
Het |
| Ep400 |
T |
A |
5: 110,814,450 (GRCm39) |
T2931S |
probably damaging |
Het |
| Gm4847 |
A |
T |
1: 166,462,395 (GRCm39) |
L365Q |
probably damaging |
Het |
| Gtse1 |
C |
T |
15: 85,748,342 (GRCm39) |
T249M |
probably benign |
Het |
| Hook3 |
T |
C |
8: 26,525,249 (GRCm39) |
D619G |
probably damaging |
Het |
| Itsn1 |
T |
A |
16: 91,705,375 (GRCm39) |
|
probably null |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Mx1 |
A |
G |
16: 97,256,735 (GRCm39) |
I148T |
probably damaging |
Het |
| Or5m3 |
T |
A |
2: 85,838,640 (GRCm39) |
N173K |
probably damaging |
Het |
| Or6c1b |
A |
G |
10: 129,272,885 (GRCm39) |
E68G |
probably damaging |
Het |
| Orc3 |
T |
C |
4: 34,585,647 (GRCm39) |
I416V |
probably benign |
Het |
| Plcxd3 |
A |
T |
15: 4,546,581 (GRCm39) |
Y195F |
probably damaging |
Het |
| Ppp1r3a |
A |
T |
6: 14,718,025 (GRCm39) |
I963N |
probably benign |
Het |
| Ppp1r7 |
A |
G |
1: 93,278,068 (GRCm39) |
D69G |
possibly damaging |
Het |
| Rars1 |
A |
G |
11: 35,699,412 (GRCm39) |
V627A |
probably benign |
Het |
| Sash1 |
A |
G |
10: 8,605,472 (GRCm39) |
S973P |
probably benign |
Het |
| Slc22a28 |
T |
C |
19: 8,040,698 (GRCm39) |
T518A |
probably damaging |
Het |
| Slc4a9 |
C |
T |
18: 36,661,751 (GRCm39) |
H92Y |
probably benign |
Het |
| Son |
A |
G |
16: 91,456,146 (GRCm39) |
D1631G |
probably damaging |
Het |
| Stat5a |
T |
C |
11: 100,774,728 (GRCm39) |
W746R |
unknown |
Het |
| Thsd4 |
A |
T |
9: 59,910,144 (GRCm39) |
L508Q |
probably damaging |
Het |
| Tlx1 |
C |
T |
19: 45,144,427 (GRCm39) |
Q292* |
probably null |
Het |
| Ttc34 |
T |
C |
4: 154,945,743 (GRCm39) |
V259A |
probably benign |
Het |
| Xrn2 |
T |
G |
2: 146,910,393 (GRCm39) |
|
probably null |
Het |
| Yif1b |
A |
G |
7: 28,944,045 (GRCm39) |
D137G |
possibly damaging |
Het |
| Zfp850 |
A |
G |
7: 27,689,899 (GRCm39) |
I103T |
probably benign |
Het |
| Zfp937 |
T |
C |
2: 150,081,467 (GRCm39) |
V499A |
probably benign |
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 |
|
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 |
|
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'- TTCTGCAAGGCACAGATGTAG -3'
(R):5'- AATCTAGCAGCAGCAGGGAC -3'
Sequencing Primer
(F):5'- TCAGCCAGAGATCTGCGAG -3'
(R):5'- CTCTTGCAGGGCATGGC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation