Incidental Mutation 'R4501:Dusp6'
| ID |
331820 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dusp6
|
| Ensembl Gene |
ENSMUSG00000019960 |
| Gene Name |
dual specificity phosphatase 6 |
| Synonyms |
1300019I03Rik, MKP-3, PYST1, MKP3 |
| MMRRC Submission |
041753-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.423)
|
| Stock # |
R4501 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
99099093-99103351 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 99100457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 151
(L151Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020118
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020118]
[ENSMUST00000220291]
|
| AlphaFold |
Q9DBB1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020118
AA Change: L151Q
PolyPhen 2
Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000020118
Gene: ENSMUSG00000019960
AA Change: L151Q
| Domain | Start | End | E-Value | Type |
|---|
|
RHOD
|
20 |
145 |
3.06e-13 |
SMART |
|
low complexity region
|
151 |
187 |
N/A |
INTRINSIC |
|
DSPc
|
206 |
346 |
5.51e-65 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217893
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219528
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219988
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220218
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220291
|
| Meta Mutation Damage Score |
0.1571 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (37/37) |
| 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 ERK2, is expressed in a variety of tissues with the highest levels in heart and pancreas, and unlike most other members of this family, is localized in the cytoplasm. Mutations in this gene have been associated with congenital hypogonadotropic hypogonadism. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous or heterozygous for a null mutation display partial penetrance of postnatal lethality, reduced body weight, and abnormal growth plate morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
A |
G |
14: 54,924,044 (GRCm39) |
V65A |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,428,753 (GRCm39) |
L956S |
probably damaging |
Het |
| Atp2a1 |
G |
A |
7: 126,052,555 (GRCm39) |
T388I |
probably benign |
Het |
| AU018091 |
A |
G |
7: 3,208,919 (GRCm39) |
V389A |
probably benign |
Het |
| Cdh2 |
A |
G |
18: 16,762,642 (GRCm39) |
V434A |
possibly damaging |
Het |
| Dennd4a |
G |
A |
9: 64,817,405 (GRCm39) |
D1680N |
possibly damaging |
Het |
| Dnah2 |
T |
A |
11: 69,368,485 (GRCm39) |
M1717L |
probably benign |
Het |
| Hc |
A |
T |
2: 34,887,488 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
A |
T |
1: 150,509,417 (GRCm39) |
S3644T |
probably damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,480,718 (GRCm39) |
I761T |
probably damaging |
Het |
| Mmd2 |
A |
G |
5: 142,560,965 (GRCm39) |
V90A |
probably benign |
Het |
| Ncf2 |
C |
G |
1: 152,710,784 (GRCm39) |
Q432E |
probably benign |
Het |
| Nxn |
T |
C |
11: 76,165,438 (GRCm39) |
E172G |
probably damaging |
Het |
| P2ry12 |
A |
G |
3: 59,125,078 (GRCm39) |
I199T |
probably damaging |
Het |
| Phldb3 |
A |
G |
7: 24,311,986 (GRCm39) |
E100G |
probably benign |
Het |
| Pidd1 |
A |
G |
7: 141,021,356 (GRCm39) |
|
probably benign |
Het |
| Pldi |
G |
T |
10: 60,764,188 (GRCm39) |
|
noncoding transcript |
Het |
| Plk5 |
T |
C |
10: 80,195,305 (GRCm39) |
C208R |
probably benign |
Het |
| Ptpn12 |
G |
T |
5: 21,224,278 (GRCm39) |
A105E |
probably damaging |
Het |
| Pusl1 |
T |
C |
4: 155,973,999 (GRCm39) |
T252A |
probably benign |
Het |
| Rpl13a |
T |
C |
7: 44,775,564 (GRCm39) |
H95R |
probably benign |
Het |
| Sh3d21 |
GAATCTCCTGGGAAAATC |
GAATC |
4: 126,056,652 (GRCm39) |
|
probably null |
Het |
| Slc30a4 |
A |
G |
2: 122,527,136 (GRCm39) |
I370T |
probably benign |
Het |
| Taf1c |
A |
G |
8: 120,326,168 (GRCm39) |
F565L |
probably damaging |
Het |
| Tdrd9 |
A |
G |
12: 112,009,243 (GRCm39) |
K1050E |
probably benign |
Het |
| Tnrc6c |
T |
A |
11: 117,613,324 (GRCm39) |
L494Q |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,624,991 (GRCm39) |
I13450L |
possibly damaging |
Het |
| Usp34 |
C |
A |
11: 23,351,529 (GRCm39) |
P1439Q |
probably damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Vmn1r80 |
A |
G |
7: 11,927,318 (GRCm39) |
N143D |
probably benign |
Het |
| Zbtb44 |
G |
A |
9: 30,965,462 (GRCm39) |
V291I |
probably damaging |
Het |
|
| Other mutations in Dusp6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02272:Dusp6
|
APN |
10 |
99,101,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02687:Dusp6
|
APN |
10 |
99,102,044 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02996:Dusp6
|
APN |
10 |
99,100,628 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL03024:Dusp6
|
APN |
10 |
99,102,156 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1134:Dusp6
|
UTSW |
10 |
99,100,816 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1695:Dusp6
|
UTSW |
10 |
99,099,555 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R2078:Dusp6
|
UTSW |
10 |
99,099,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2899:Dusp6
|
UTSW |
10 |
99,099,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3162:Dusp6
|
UTSW |
10 |
99,099,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3162:Dusp6
|
UTSW |
10 |
99,099,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4413:Dusp6
|
UTSW |
10 |
99,099,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5175:Dusp6
|
UTSW |
10 |
99,099,864 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5381:Dusp6
|
UTSW |
10 |
99,102,129 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5560:Dusp6
|
UTSW |
10 |
99,102,103 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5820:Dusp6
|
UTSW |
10 |
99,099,864 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7359:Dusp6
|
UTSW |
10 |
99,099,927 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7398:Dusp6
|
UTSW |
10 |
99,100,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8075:Dusp6
|
UTSW |
10 |
99,100,810 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8491:Dusp6
|
UTSW |
10 |
99,102,081 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8826:Dusp6
|
UTSW |
10 |
99,099,469 (GRCm39) |
start gained |
probably benign |
|
|
R9084:Dusp6
|
UTSW |
10 |
99,099,692 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9125:Dusp6
|
UTSW |
10 |
99,102,074 (GRCm39) |
nonsense |
probably null |
|
|
R9389:Dusp6
|
UTSW |
10 |
99,099,839 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAAGCAGCGGGTAGTGTTC -3'
(R):5'- GGAAGGGCAAAATCTCCACC -3'
Sequencing Primer
(F):5'- TTCCTAAAGGTGCGCATTGAAGC -3'
(R):5'- TCTCCACCGGGAAGGAAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation