Incidental Mutation 'IGL00329:Dusp19'
| ID |
7141 |
| 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 # |
IGL00329
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
80447558-80462005 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 80461269 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 186
(I186K)
|
| 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: I186K
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000028384
Gene: ENSMUSG00000027001
AA Change: I186K
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
A |
G |
3: 36,123,911 (GRCm39) |
N72S |
probably benign |
Het |
| Aopep |
T |
A |
13: 63,338,977 (GRCm39) |
I623N |
probably damaging |
Het |
| Apba3 |
C |
T |
10: 81,108,901 (GRCm39) |
P555S |
probably damaging |
Het |
| Arcn1 |
C |
A |
9: 44,670,333 (GRCm39) |
E98* |
probably null |
Het |
| Cimip2b |
G |
A |
4: 43,428,158 (GRCm39) |
R100W |
possibly damaging |
Het |
| Col28a1 |
G |
T |
6: 8,175,425 (GRCm39) |
T141K |
probably damaging |
Het |
| Dna2 |
T |
C |
10: 62,802,222 (GRCm39) |
F811S |
probably damaging |
Het |
| Dync2li1 |
A |
G |
17: 84,952,154 (GRCm39) |
D195G |
possibly damaging |
Het |
| Epm2aip1 |
T |
C |
9: 111,101,855 (GRCm39) |
V276A |
possibly damaging |
Het |
| Extl3 |
T |
C |
14: 65,313,070 (GRCm39) |
E704G |
probably benign |
Het |
| Gle1 |
T |
C |
2: 29,829,301 (GRCm39) |
|
probably benign |
Het |
| Gm2178 |
C |
A |
14: 26,235,767 (GRCm39) |
|
probably benign |
Het |
| Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
| Herc2 |
T |
A |
7: 55,774,047 (GRCm39) |
L1166Q |
probably damaging |
Het |
| Hsd11b2 |
A |
G |
8: 106,249,759 (GRCm39) |
E290G |
probably benign |
Het |
| Inpp5d |
T |
C |
1: 87,595,725 (GRCm39) |
V157A |
probably benign |
Het |
| Krt72 |
T |
A |
15: 101,693,434 (GRCm39) |
Q160L |
probably damaging |
Het |
| Lrrd1 |
A |
G |
5: 3,900,081 (GRCm39) |
K129E |
possibly damaging |
Het |
| Mapk13 |
A |
G |
17: 28,995,379 (GRCm39) |
Y200C |
probably damaging |
Het |
| Mme |
G |
A |
3: 63,287,749 (GRCm39) |
W750* |
probably null |
Het |
| Nat8l |
C |
T |
5: 34,155,761 (GRCm39) |
P139L |
probably damaging |
Het |
| Nrtn |
C |
A |
17: 57,058,569 (GRCm39) |
R144L |
probably benign |
Het |
| Or52h9 |
C |
A |
7: 104,202,299 (GRCm39) |
P58T |
probably benign |
Het |
| Pate12 |
G |
A |
9: 36,344,198 (GRCm39) |
|
probably benign |
Het |
| Pdgfa |
T |
A |
5: 138,974,216 (GRCm39) |
|
probably benign |
Het |
| Rtp3 |
A |
G |
9: 110,815,666 (GRCm39) |
V233A |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,078,474 (GRCm39) |
|
probably benign |
Het |
| Trappc10 |
A |
T |
10: 78,039,711 (GRCm39) |
|
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,216,288 (GRCm39) |
T380A |
probably benign |
Het |
| Vmn1r21 |
A |
T |
6: 57,821,049 (GRCm39) |
S132T |
probably benign |
Het |
|
| Other mutations in Dusp19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation