Incidental Mutation 'R9675:Dusp4'
| ID |
728304 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dusp4
|
| Ensembl Gene |
ENSMUSG00000031530 |
| Gene Name |
dual specificity phosphatase 4 |
| Synonyms |
2700078F24Rik, E130306H24Rik, MKP2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R9675 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
35274451-35287048 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 35274964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 28
(G28S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033930
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033930]
|
| AlphaFold |
Q8BFV3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033930
AA Change: G28S
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000033930
Gene: ENSMUSG00000031530
AA Change: G28S
| Domain | Start | End | E-Value | Type |
|---|
|
RHOD
|
35 |
160 |
4.16e-15 |
SMART |
|
DSPc
|
199 |
337 |
2.91e-64 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK1, ERK2 and JNK, is expressed in a variety of tissues, and is localized in the nucleus. Two alternatively spliced transcript variants, encoding distinct isoforms, have been observed for this gene. In addition, multiple polyadenylation sites have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit a decrease in B cell apoptosis of bone marrow-derived, IL-7-dependent pro-B lymphocytes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
G |
T |
5: 113,339,827 (GRCm39) |
P62T |
probably damaging |
Het |
| Aadacl2fm3 |
C |
T |
3: 59,784,538 (GRCm39) |
T337I |
probably damaging |
Het |
| Abtb2 |
T |
C |
2: 103,538,532 (GRCm39) |
F654L |
probably benign |
Het |
| Acta2 |
A |
T |
19: 34,223,612 (GRCm39) |
V161E |
|
Het |
| Adamtsl1 |
A |
C |
4: 86,161,989 (GRCm39) |
Y374S |
probably damaging |
Het |
| Apc |
A |
G |
18: 34,449,247 (GRCm39) |
K2048E |
probably damaging |
Het |
| Arhgef4 |
C |
A |
1: 34,845,108 (GRCm39) |
D66E |
probably benign |
Het |
| Arsj |
T |
A |
3: 126,231,765 (GRCm39) |
H170Q |
probably damaging |
Het |
| Bmpr1b |
T |
C |
3: 141,563,321 (GRCm39) |
K208E |
probably benign |
Het |
| Brd4 |
A |
T |
17: 32,433,786 (GRCm39) |
M459K |
unknown |
Het |
| Btnl10 |
T |
A |
11: 58,814,442 (GRCm39) |
L374Q |
probably damaging |
Het |
| Cadm1 |
C |
T |
9: 47,441,752 (GRCm39) |
R28W |
probably damaging |
Het |
| Cts7 |
A |
T |
13: 61,504,371 (GRCm39) |
M64K |
probably benign |
Het |
| Dmbt1 |
T |
C |
7: 130,712,652 (GRCm39) |
L1552P |
probably damaging |
Het |
| Dnaaf6rt |
G |
A |
1: 31,262,644 (GRCm39) |
V209I |
probably benign |
Het |
| Dock4 |
TGTGCCGGTGCCGGTGCCGGTGCCGGTGCC |
TGTGCCGGTGCCGGTGCCGGTGCCGGTGCCGGTGCC |
12: 40,894,379 (GRCm39) |
|
probably benign |
Het |
| Dock4 |
TGCCGG |
TGCCGGAGCCGG |
12: 40,894,393 (GRCm39) |
|
probably benign |
Het |
| Fez2 |
A |
G |
17: 78,686,169 (GRCm39) |
C373R |
possibly damaging |
Het |
| Fibin |
T |
C |
2: 110,192,495 (GRCm39) |
T216A |
probably benign |
Het |
| Gad1 |
G |
A |
2: 70,416,200 (GRCm39) |
V220M |
probably damaging |
Het |
| Hsd17b13 |
A |
G |
5: 104,111,709 (GRCm39) |
L278S |
probably benign |
Het |
| Hyal5 |
G |
T |
6: 24,876,635 (GRCm39) |
E169D |
probably benign |
Het |
| Ighv1-15 |
A |
T |
12: 114,620,981 (GRCm39) |
C115S |
probably damaging |
Het |
| Msl2 |
T |
C |
9: 100,978,555 (GRCm39) |
S310P |
probably benign |
Het |
| Mss51 |
A |
G |
14: 20,537,189 (GRCm39) |
M93T |
probably damaging |
Het |
| Npas2 |
T |
C |
1: 39,364,446 (GRCm39) |
F263L |
probably damaging |
Het |
| Ogfod2 |
T |
C |
5: 124,252,452 (GRCm39) |
V177A |
probably damaging |
Het |
| Or1s2 |
T |
G |
19: 13,758,639 (GRCm39) |
V219G |
possibly damaging |
Het |
| Or9a4 |
A |
G |
6: 40,548,559 (GRCm39) |
M80V |
possibly damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Pkd2l1 |
G |
T |
19: 44,137,696 (GRCm39) |
Q713K |
probably benign |
Het |
| Rasgrp1 |
T |
A |
2: 117,173,190 (GRCm39) |
M1L |
probably benign |
Het |
| Rnf167 |
T |
A |
11: 70,541,032 (GRCm39) |
H219Q |
possibly damaging |
Het |
| Spatc1 |
T |
A |
15: 76,152,520 (GRCm39) |
I50N |
probably damaging |
Het |
| Tcf20 |
T |
C |
15: 82,740,986 (GRCm39) |
Y155C |
probably damaging |
Het |
| Tfpt |
T |
A |
7: 3,623,981 (GRCm39) |
D142V |
probably damaging |
Het |
| Trp53bp1 |
A |
G |
2: 121,087,089 (GRCm39) |
V189A |
probably benign |
Het |
| Ttbk2 |
T |
G |
2: 120,637,241 (GRCm39) |
Q141H |
probably benign |
Het |
| Zbtb21 |
A |
G |
16: 97,752,945 (GRCm39) |
V474A |
probably damaging |
Het |
|
| Other mutations in Dusp4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01025:Dusp4
|
APN |
8 |
35,285,666 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL02948:Dusp4
|
APN |
8 |
35,285,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1537:Dusp4
|
UTSW |
8 |
35,285,570 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1644:Dusp4
|
UTSW |
8 |
35,285,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4492:Dusp4
|
UTSW |
8 |
35,274,890 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4826:Dusp4
|
UTSW |
8 |
35,285,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5396:Dusp4
|
UTSW |
8 |
35,284,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5637:Dusp4
|
UTSW |
8 |
35,284,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6850:Dusp4
|
UTSW |
8 |
35,283,651 (GRCm39) |
nonsense |
probably null |
|
|
R7078:Dusp4
|
UTSW |
8 |
35,275,065 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8346:Dusp4
|
UTSW |
8 |
35,275,092 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8770:Dusp4
|
UTSW |
8 |
35,274,938 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8944:Dusp4
|
UTSW |
8 |
35,274,941 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8955:Dusp4
|
UTSW |
8 |
35,284,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9051:Dusp4
|
UTSW |
8 |
35,284,345 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9578:Dusp4
|
UTSW |
8 |
35,274,822 (GRCm39) |
start gained |
probably benign |
|
|
RF012:Dusp4
|
UTSW |
8 |
35,274,953 (GRCm39) |
small deletion |
probably benign |
|
|
Z1177:Dusp4
|
UTSW |
8 |
35,275,244 (GRCm39) |
missense |
probably benign |
0.12 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTTTGCGGGTCACTTCTG -3'
(R):5'- TAAGCAGGCAGATGTCCGTG -3'
Sequencing Primer
(F):5'- TCTGCAGGCGCCCTCTTAG -3'
(R):5'- TCGTAGACGATGACAGCCG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation