Incidental Mutation 'R2326:Dusp8'
| ID |
244917 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dusp8
|
| Ensembl Gene |
ENSMUSG00000037887 |
| Gene Name |
dual specificity phosphatase 8 |
| Synonyms |
Nttp1, 5530400B01Rik |
| MMRRC Submission |
040317-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
R2326 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
141633227-141649580 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 141643800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 38
(Y38H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049414
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039926]
[ENSMUST00000143661]
|
| AlphaFold |
O09112 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039926
AA Change: Y38H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049414
Gene: ENSMUSG00000037887
AA Change: Y38H
| Domain | Start | End | E-Value | Type |
|---|
|
RHOD
|
13 |
135 |
4.71e-14 |
SMART |
|
DSPc
|
160 |
299 |
3.6e-69 |
SMART |
|
low complexity region
|
334 |
353 |
N/A |
INTRINSIC |
|
low complexity region
|
360 |
371 |
N/A |
INTRINSIC |
|
low complexity region
|
405 |
422 |
N/A |
INTRINSIC |
|
low complexity region
|
427 |
449 |
N/A |
INTRINSIC |
|
low complexity region
|
452 |
470 |
N/A |
INTRINSIC |
|
low complexity region
|
488 |
512 |
N/A |
INTRINSIC |
|
low complexity region
|
546 |
600 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143661
AA Change: Y38H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114307
Gene: ENSMUSG00000037887
AA Change: Y38H
| Domain | Start | End | E-Value | Type |
|---|
|
RHOD
|
13 |
135 |
4.71e-14 |
SMART |
|
Pfam:DSPc
|
168 |
231 |
1.5e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.8473 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (31/31) |
| 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 is 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 SAPK/JNK and p38, is expressed predominantly in the adult brain, heart, and skeletal muscle, is localized in the cytoplasm, and is induced by nerve growth factor and insulin. An intronless pseudogene for DUSP8 is present on chromosome 10q11.2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered myocardial fiber morphology, mildly increased cardiac muscle contractility at baseline, and decreased response of heart to induced stress. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bglap3 |
G |
C |
3: 88,276,819 (GRCm39) |
|
probably benign |
Het |
| Cdh3 |
A |
G |
8: 107,237,940 (GRCm39) |
T45A |
probably benign |
Het |
| Cdyl2 |
A |
G |
8: 117,350,537 (GRCm39) |
V198A |
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cyp7a1 |
A |
T |
4: 6,268,396 (GRCm39) |
I443K |
probably benign |
Het |
| Dazap1 |
T |
A |
10: 80,120,067 (GRCm39) |
M234K |
possibly damaging |
Het |
| Dnmt1 |
A |
T |
9: 20,835,442 (GRCm39) |
|
probably benign |
Het |
| Ewsr1 |
A |
G |
11: 5,041,857 (GRCm39) |
|
probably null |
Het |
| Fem1b |
T |
C |
9: 62,704,285 (GRCm39) |
H325R |
probably damaging |
Het |
| Flrt3 |
C |
A |
2: 140,503,311 (GRCm39) |
V106F |
possibly damaging |
Het |
| Foxp2 |
T |
A |
6: 15,409,938 (GRCm39) |
S513T |
possibly damaging |
Het |
| Gm5600 |
G |
T |
7: 113,307,041 (GRCm39) |
|
noncoding transcript |
Het |
| Haspin |
A |
G |
11: 73,026,911 (GRCm39) |
I726T |
probably benign |
Het |
| Lama4 |
T |
A |
10: 38,918,563 (GRCm39) |
|
probably null |
Het |
| Lrrc7 |
A |
T |
3: 157,876,298 (GRCm39) |
H597Q |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Plcb4 |
C |
T |
2: 135,781,893 (GRCm39) |
T238M |
probably damaging |
Het |
| Plekhd1 |
A |
G |
12: 80,768,873 (GRCm39) |
|
probably null |
Het |
| Prph |
C |
G |
15: 98,953,163 (GRCm39) |
|
probably benign |
Het |
| Rassf2 |
C |
T |
2: 131,842,352 (GRCm39) |
|
probably null |
Het |
| Saal1 |
A |
G |
7: 46,342,235 (GRCm39) |
F403L |
probably benign |
Het |
| Serpina3a |
C |
T |
12: 104,082,758 (GRCm39) |
T177I |
probably benign |
Het |
| Slc23a2 |
C |
T |
2: 131,936,115 (GRCm39) |
E52K |
possibly damaging |
Het |
| Stab2 |
T |
A |
10: 86,790,338 (GRCm39) |
|
probably null |
Het |
| Syne3 |
T |
A |
12: 104,935,493 (GRCm39) |
E95V |
probably damaging |
Het |
| Vmn1r58 |
G |
T |
7: 5,413,939 (GRCm39) |
T97N |
probably damaging |
Het |
| Vmn2r61 |
T |
G |
7: 41,916,287 (GRCm39) |
L300W |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,720,421 (GRCm39) |
E388G |
possibly damaging |
Het |
|
| Other mutations in Dusp8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01634:Dusp8
|
APN |
7 |
141,638,160 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02458:Dusp8
|
APN |
7 |
141,636,484 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02931:Dusp8
|
APN |
7 |
141,636,667 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03329:Dusp8
|
APN |
7 |
141,638,097 (GRCm39) |
nonsense |
probably null |
|
|
R0009:Dusp8
|
UTSW |
7 |
141,635,791 (GRCm39) |
unclassified |
probably benign |
|
|
R1054:Dusp8
|
UTSW |
7 |
141,635,804 (GRCm39) |
unclassified |
probably benign |
|
|
R1611:Dusp8
|
UTSW |
7 |
141,636,694 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1883:Dusp8
|
UTSW |
7 |
141,638,085 (GRCm39) |
splice site |
probably null |
|
|
R2119:Dusp8
|
UTSW |
7 |
141,636,298 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2698:Dusp8
|
UTSW |
7 |
141,635,701 (GRCm39) |
unclassified |
probably benign |
|
|
R2905:Dusp8
|
UTSW |
7 |
141,637,126 (GRCm39) |
nonsense |
probably null |
|
|
R3849:Dusp8
|
UTSW |
7 |
141,643,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4921:Dusp8
|
UTSW |
7 |
141,635,891 (GRCm39) |
unclassified |
probably benign |
|
|
R4942:Dusp8
|
UTSW |
7 |
141,635,965 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5288:Dusp8
|
UTSW |
7 |
141,643,730 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5385:Dusp8
|
UTSW |
7 |
141,643,730 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5386:Dusp8
|
UTSW |
7 |
141,643,730 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6301:Dusp8
|
UTSW |
7 |
141,636,756 (GRCm39) |
splice site |
probably null |
|
|
R6520:Dusp8
|
UTSW |
7 |
141,637,418 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6665:Dusp8
|
UTSW |
7 |
141,643,842 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9130:Dusp8
|
UTSW |
7 |
141,642,155 (GRCm39) |
missense |
probably benign |
0.12 |
|
RF016:Dusp8
|
UTSW |
7 |
141,636,589 (GRCm39) |
missense |
probably benign |
0.04 |
|
X0064:Dusp8
|
UTSW |
7 |
141,635,764 (GRCm39) |
unclassified |
probably benign |
|
|
Z1176:Dusp8
|
UTSW |
7 |
141,643,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Dusp8
|
UTSW |
7 |
141,635,680 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCTCAGGAATGGTCAGCC -3'
(R):5'- AGATCCCACCATCTGCTGAC -3'
Sequencing Primer
(F):5'- CTCAGGAATGGTCAGCCCTGAAG -3'
(R):5'- GGTCTGGCACCATGCACTAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation