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: 0.203)
|
| Stock # |
R3852 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
106368632-106375724 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 106373893 bp (GRCm38)
|
| 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: 20,560,439 (GRCm38) |
V685A |
probably damaging |
Het |
| Abhd4 |
T |
C |
14: 54,265,367 (GRCm38) |
Y44H |
probably damaging |
Het |
| AI429214 |
A |
G |
8: 36,994,442 (GRCm38) |
D248G |
probably damaging |
Het |
| AY358078 |
A |
G |
14: 51,805,553 (GRCm38) |
T233A |
unknown |
Het |
| Calcr |
T |
C |
6: 3,693,735 (GRCm38) |
Y353C |
probably damaging |
Het |
| Ccdc34 |
A |
G |
2: 110,032,428 (GRCm38) |
K193E |
possibly damaging |
Het |
| Dhcr24 |
A |
G |
4: 106,573,873 (GRCm38) |
E253G |
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,127,927 (GRCm38) |
V1841A |
possibly damaging |
Het |
| Dpp10 |
A |
T |
1: 123,485,924 (GRCm38) |
Y186* |
probably null |
Het |
| Dpysl4 |
C |
T |
7: 139,100,935 (GRCm38) |
T575M |
probably damaging |
Het |
| Gga3 |
T |
A |
11: 115,587,542 (GRCm38) |
T475S |
probably benign |
Het |
| Gm10271 |
T |
A |
10: 116,956,874 (GRCm38) |
K36* |
probably null |
Het |
| Gm572 |
G |
A |
4: 148,668,872 (GRCm38) |
E325K |
possibly damaging |
Het |
| Golga2 |
A |
G |
2: 32,305,611 (GRCm38) |
E806G |
probably benign |
Het |
| Igf1 |
A |
T |
10: 87,915,319 (GRCm38) |
K126* |
probably null |
Het |
| Itpkc |
A |
T |
7: 27,227,612 (GRCm38) |
N292K |
probably benign |
Het |
| Klhl1 |
A |
T |
14: 96,280,205 (GRCm38) |
M345K |
probably benign |
Het |
| Lrp2 |
A |
G |
2: 69,537,565 (GRCm38) |
V201A |
probably damaging |
Het |
| Lrrc8a |
C |
T |
2: 30,261,960 (GRCm38) |
T757M |
probably benign |
Het |
| Mios |
T |
A |
6: 8,216,453 (GRCm38) |
I459K |
probably benign |
Het |
| Mrps11 |
T |
C |
7: 78,790,645 (GRCm38) |
I94T |
probably damaging |
Het |
| Ms4a4c |
T |
A |
19: 11,416,395 (GRCm38) |
S68T |
probably benign |
Het |
| Mstn |
C |
T |
1: 53,061,971 (GRCm38) |
T69I |
possibly damaging |
Het |
| Myo10 |
A |
G |
15: 25,779,626 (GRCm38) |
K28E |
probably damaging |
Het |
| Nol6 |
A |
G |
4: 41,117,452 (GRCm38) |
S914P |
probably damaging |
Het |
| Ntn1 |
C |
G |
11: 68,385,793 (GRCm38) |
D110H |
probably damaging |
Het |
| Olfr547 |
C |
A |
7: 102,535,280 (GRCm38) |
H178N |
probably benign |
Het |
| Olfr585 |
T |
C |
7: 103,098,184 (GRCm38) |
S148P |
probably damaging |
Het |
| Pcdh17 |
C |
T |
14: 84,447,259 (GRCm38) |
Q389* |
probably null |
Het |
| Pik3r2 |
G |
A |
8: 70,770,421 (GRCm38) |
R452C |
probably benign |
Het |
| Prr14l |
T |
C |
5: 32,830,345 (GRCm38) |
E602G |
probably damaging |
Het |
| Rusc2 |
C |
A |
4: 43,416,424 (GRCm38) |
Q577K |
probably benign |
Het |
| Sacm1l |
T |
A |
9: 123,587,576 (GRCm38) |
M534K |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 92,943,086 (GRCm38) |
V1151F |
probably damaging |
Het |
| Slco4a1 |
C |
T |
2: 180,464,091 (GRCm38) |
T22M |
probably benign |
Het |
| Svs1 |
C |
T |
6: 48,987,994 (GRCm38) |
P312L |
possibly damaging |
Het |
| Tas2r104 |
A |
T |
6: 131,684,925 (GRCm38) |
C274S |
probably benign |
Het |
| Tnrc6c |
C |
T |
11: 117,723,529 (GRCm38) |
R838W |
probably damaging |
Het |
| Trim43c |
T |
A |
9: 88,840,401 (GRCm38) |
H33Q |
probably damaging |
Het |
| Ttc17 |
A |
T |
2: 94,369,413 (GRCm38) |
I411K |
possibly damaging |
Het |
| Ttn |
A |
C |
2: 76,955,024 (GRCm38) |
V669G |
possibly damaging |
Het |
| Ttn |
G |
T |
2: 76,751,334 (GRCm38) |
L23072I |
possibly damaging |
Het |
| Vmn1r60 |
A |
T |
7: 5,545,027 (GRCm38) |
F25I |
possibly damaging |
Het |
| Vmn2r9 |
A |
G |
5: 108,848,131 (GRCm38) |
I217T |
probably damaging |
Het |
|
| Other mutations in Dusp7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03181:Dusp7
|
APN |
9 |
106,373,810 (GRCm38) |
missense |
probably damaging |
1.00 |
|
alessi
|
UTSW |
9 |
106,373,741 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1118:Dusp7
|
UTSW |
9 |
106,373,650 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R1952:Dusp7
|
UTSW |
9 |
106,370,829 (GRCm38) |
missense |
probably benign |
0.05 |
|
R2049:Dusp7
|
UTSW |
9 |
106,373,897 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2408:Dusp7
|
UTSW |
9 |
106,369,162 (GRCm38) |
missense |
probably benign |
0.30 |
|
R4632:Dusp7
|
UTSW |
9 |
106,370,766 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R5022:Dusp7
|
UTSW |
9 |
106,373,741 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6273:Dusp7
|
UTSW |
9 |
106,373,896 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R6525:Dusp7
|
UTSW |
9 |
106,369,284 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R7161:Dusp7
|
UTSW |
9 |
106,368,915 (GRCm38) |
missense |
unknown |
|
|
R7575:Dusp7
|
UTSW |
9 |
106,373,677 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7818:Dusp7
|
UTSW |
9 |
106,369,130 (GRCm38) |
missense |
probably benign |
0.28 |
|
R7856:Dusp7
|
UTSW |
9 |
106,368,868 (GRCm38) |
missense |
unknown |
|
|
R8811:Dusp7
|
UTSW |
9 |
106,371,042 (GRCm38) |
missense |
probably benign |
0.04 |
|
R9126:Dusp7
|
UTSW |
9 |
106,373,767 (GRCm38) |
missense |
|
|
|
R9219:Dusp7
|
UTSW |
9 |
106,371,013 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9511:Dusp7
|
UTSW |
9 |
106,370,926 (GRCm38) |
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 |
Incidental Mutation