Incidental Mutation 'IGL03002:Dusp19'
| ID |
407385 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dusp19
|
| Ensembl Gene |
ENSMUSG00000027001 |
| Gene Name |
dual specificity phosphatase 19 |
| Synonyms |
C79103, TS-DSP1, SKRP1, 5930436K22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.163)
|
| Stock # |
IGL03002
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
80447558-80462005 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 80461279 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 189
(N189K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028384
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028384]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028384
AA Change: N189K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028384
Gene: ENSMUSG00000027001
AA Change: N189K
| Domain | Start | End | E-Value | Type |
|---|
|
DSPc
|
64 |
202 |
7.6e-36 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000118989
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135305
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147290
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148084
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151204
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196622
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadl |
T |
C |
1: 66,876,128 (GRCm39) |
I398V |
probably benign |
Het |
| Adcy4 |
A |
T |
14: 56,011,013 (GRCm39) |
C635S |
probably benign |
Het |
| Aoc1l3 |
A |
G |
6: 48,964,052 (GRCm39) |
H20R |
probably benign |
Het |
| Asic4 |
C |
A |
1: 75,427,967 (GRCm39) |
D164E |
possibly damaging |
Het |
| C8g |
T |
A |
2: 25,388,823 (GRCm39) |
*203L |
probably null |
Het |
| Cad |
T |
C |
5: 31,212,330 (GRCm39) |
V11A |
probably benign |
Het |
| Cckar |
T |
C |
5: 53,860,247 (GRCm39) |
N194S |
probably damaging |
Het |
| Cdc123 |
T |
C |
2: 5,803,166 (GRCm39) |
|
probably benign |
Het |
| Chrm5 |
T |
C |
2: 112,310,706 (GRCm39) |
T137A |
probably damaging |
Het |
| Cyp1a1 |
A |
G |
9: 57,609,724 (GRCm39) |
|
probably benign |
Het |
| Dapk3 |
G |
T |
10: 81,026,437 (GRCm39) |
E187* |
probably null |
Het |
| Dmtf1 |
T |
C |
5: 9,190,474 (GRCm39) |
E80G |
probably damaging |
Het |
| Gfral |
A |
G |
9: 76,104,520 (GRCm39) |
V164A |
possibly damaging |
Het |
| Hk1 |
A |
T |
10: 62,107,578 (GRCm39) |
V799E |
probably damaging |
Het |
| Iars2 |
C |
T |
1: 185,055,013 (GRCm39) |
|
probably null |
Het |
| Jcad |
T |
A |
18: 4,675,153 (GRCm39) |
Y972N |
probably benign |
Het |
| Lrp1 |
A |
T |
10: 127,425,505 (GRCm39) |
D708E |
probably damaging |
Het |
| Mbtd1 |
T |
A |
11: 93,815,316 (GRCm39) |
H301Q |
probably benign |
Het |
| Med12 |
A |
G |
X: 100,339,461 (GRCm39) |
T2004A |
probably benign |
Het |
| Mib1 |
T |
C |
18: 10,798,356 (GRCm39) |
I739T |
possibly damaging |
Het |
| Mthfsd |
C |
T |
8: 121,835,018 (GRCm39) |
|
probably benign |
Het |
| Mybpc3 |
T |
G |
2: 90,954,234 (GRCm39) |
F369C |
probably damaging |
Het |
| Nfatc2 |
C |
T |
2: 168,376,904 (GRCm39) |
V329M |
probably damaging |
Het |
| Ngef |
A |
T |
1: 87,437,114 (GRCm39) |
|
probably null |
Het |
| Nlrp1b |
T |
C |
11: 71,059,685 (GRCm39) |
E759G |
probably benign |
Het |
| Or10aa3 |
C |
A |
1: 173,878,191 (GRCm39) |
T84N |
probably benign |
Het |
| Prdm4 |
T |
C |
10: 85,729,016 (GRCm39) |
E790G |
probably benign |
Het |
| Psmd12 |
A |
G |
11: 107,376,607 (GRCm39) |
D81G |
probably benign |
Het |
| Rnf144b |
A |
G |
13: 47,396,359 (GRCm39) |
H232R |
probably damaging |
Het |
| Sec63 |
C |
T |
10: 42,686,905 (GRCm39) |
T475M |
possibly damaging |
Het |
| Slc16a4 |
A |
T |
3: 107,208,102 (GRCm39) |
N204I |
probably benign |
Het |
| Socs1 |
T |
C |
16: 10,602,404 (GRCm39) |
N111S |
probably damaging |
Het |
| Srpra |
A |
G |
9: 35,126,017 (GRCm39) |
N432D |
probably damaging |
Het |
| Srrm2 |
A |
G |
17: 24,034,708 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
A |
G |
6: 72,593,055 (GRCm39) |
S142P |
possibly damaging |
Het |
| Trbv13-1 |
A |
G |
6: 41,093,169 (GRCm39) |
N34S |
probably benign |
Het |
| Vmn2r26 |
T |
C |
6: 124,016,754 (GRCm39) |
V406A |
possibly damaging |
Het |
| Vsig1 |
G |
T |
X: 139,827,088 (GRCm39) |
G79V |
probably damaging |
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 |
|
ANU05:Dusp19
|
UTSW |
2 |
80,454,618 (GRCm39) |
missense |
probably benign |
0.01 |
|
P0033:Dusp19
|
UTSW |
2 |
80,447,729 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
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 |
2016-08-02 |
Incidental Mutation