Incidental Mutation 'P0033:Dusp19'
| ID |
7812 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dusp19
|
| Ensembl Gene |
ENSMUSG00000027001 |
| Gene Name |
dual specificity phosphatase 19 |
| Synonyms |
C79103, TS-DSP1, SKRP1, 5930436K22Rik |
| MMRRC Submission |
038284-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.163)
|
| Stock # |
P0033 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
80447558-80462005 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to A
at 80447729 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028384
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028384]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028384
AA Change: M1K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028384
Gene: ENSMUSG00000027001
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
DSPc
|
64 |
202 |
7.6e-36 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125033
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135305
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147290
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148084
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151204
|
| Meta Mutation Damage Score |
0.9667 |
| Coding Region Coverage |
- 1x: 81.1%
- 3x: 72.9%
- 10x: 47.1%
- 20x: 23.7%
|
| Validation Efficiency |
86% (108/125) |
| 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. They have been implicated as major modulators of critical signaling pathways. DUSP19 contains a variation of the consensus DUSP C-terminal catalytic domain, with the last serine residue replaced by alanine, and lacks the N-terminal CH2 domain found in the MKP (mitogen-activated protein kinase phosphatase) class of DUSPs (see MIM 600714) (summary by Patterson et al., 2009 [PubMed 19228121]).[supplied by OMIM, Dec 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Depdc1a |
T |
C |
3: 159,221,778 (GRCm39) |
S241P |
probably damaging |
Het |
| Egfem1 |
G |
C |
3: 29,744,340 (GRCm39) |
Q526H |
probably damaging |
Het |
| Gm10856 |
C |
A |
15: 79,730,023 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5901 |
A |
G |
7: 105,026,712 (GRCm39) |
Y160C |
probably damaging |
Het |
| Hmg20a |
A |
G |
9: 56,397,108 (GRCm39) |
S303G |
probably benign |
Het |
| Lmbrd1 |
A |
G |
1: 24,724,646 (GRCm39) |
T77A |
possibly damaging |
Het |
| Map3k5 |
C |
T |
10: 20,007,959 (GRCm39) |
|
probably benign |
Het |
| Ncapg2 |
G |
A |
12: 116,402,255 (GRCm39) |
V696I |
probably benign |
Het |
| Orm3 |
A |
T |
4: 63,274,539 (GRCm39) |
T35S |
probably damaging |
Het |
| Pdgfra |
A |
G |
5: 75,353,222 (GRCm39) |
E1004G |
probably damaging |
Het |
| Pigg |
T |
A |
5: 108,489,944 (GRCm39) |
F850I |
probably damaging |
Het |
| Ppip5k2 |
A |
G |
1: 97,645,253 (GRCm39) |
V1067A |
probably damaging |
Het |
| Ptprd |
T |
A |
4: 76,047,091 (GRCm39) |
R392* |
probably null |
Het |
| Rad54b |
T |
A |
4: 11,609,285 (GRCm39) |
|
probably benign |
Het |
| Rapgef4 |
T |
C |
2: 71,967,675 (GRCm39) |
|
probably benign |
Het |
| Rasef |
T |
C |
4: 73,668,089 (GRCm39) |
N134S |
probably benign |
Het |
| Sfswap |
C |
T |
5: 129,616,819 (GRCm39) |
P421L |
possibly damaging |
Het |
| Sorcs1 |
T |
A |
19: 50,141,345 (GRCm39) |
I1129F |
probably damaging |
Het |
| Spats2l |
G |
A |
1: 57,924,997 (GRCm39) |
E132K |
probably damaging |
Het |
| Tet3 |
A |
G |
6: 83,345,494 (GRCm39) |
S1648P |
probably damaging |
Het |
| Ttc16 |
T |
A |
2: 32,652,586 (GRCm39) |
T691S |
probably benign |
Het |
| Usp38 |
C |
T |
8: 81,708,525 (GRCm39) |
D1018N |
probably benign |
Het |
| Zcchc14 |
A |
C |
8: 122,336,898 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Dusp19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00329:Dusp19
|
APN |
2 |
80,461,269 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL00584:Dusp19
|
APN |
2 |
80,461,126 (GRCm39) |
splice site |
probably null |
|
|
IGL01291:Dusp19
|
APN |
2 |
80,454,618 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01592:Dusp19
|
APN |
2 |
80,447,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02808:Dusp19
|
APN |
2 |
80,447,815 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03002:Dusp19
|
APN |
2 |
80,461,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ANU05:Dusp19
|
UTSW |
2 |
80,454,618 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4815:Dusp19
|
UTSW |
2 |
80,461,289 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5715:Dusp19
|
UTSW |
2 |
80,461,330 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7693:Dusp19
|
UTSW |
2 |
80,447,905 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8073:Dusp19
|
UTSW |
2 |
80,447,828 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8322:Dusp19
|
UTSW |
2 |
80,454,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8817:Dusp19
|
UTSW |
2 |
80,454,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8998:Dusp19
|
UTSW |
2 |
80,461,271 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8999:Dusp19
|
UTSW |
2 |
80,461,271 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9109:Dusp19
|
UTSW |
2 |
80,447,729 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R9298:Dusp19
|
UTSW |
2 |
80,447,729 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R9318:Dusp19
|
UTSW |
2 |
80,461,344 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Posted On |
2012-10-29 |
Incidental Mutation