Incidental Mutation 'IGL01291:Dusp19'
| ID |
72912 |
| 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 # |
IGL01291
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
80447558-80462005 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80454618 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 113
(T113A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028384
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028384]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028384
AA Change: T113A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000028384
Gene: ENSMUSG00000027001
AA Change: T113A
| 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
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
T |
A |
5: 114,363,931 (GRCm39) |
F1464Y |
probably benign |
Het |
| Adgrg6 |
G |
A |
10: 14,286,274 (GRCm39) |
A1114V |
possibly damaging |
Het |
| Agl |
A |
G |
3: 116,566,438 (GRCm39) |
I975T |
possibly damaging |
Het |
| Arhgef11 |
T |
C |
3: 87,640,481 (GRCm39) |
W1213R |
probably benign |
Het |
| Ccar1 |
T |
A |
10: 62,592,428 (GRCm39) |
E708V |
probably damaging |
Het |
| Ceacam23 |
T |
A |
7: 17,639,041 (GRCm39) |
|
noncoding transcript |
Het |
| Cilp |
T |
C |
9: 65,186,265 (GRCm39) |
S787P |
possibly damaging |
Het |
| Col5a1 |
T |
A |
2: 27,861,456 (GRCm39) |
|
probably benign |
Het |
| Col6a3 |
G |
A |
1: 90,730,014 (GRCm39) |
T1157I |
probably damaging |
Het |
| Dock3 |
T |
C |
9: 106,835,599 (GRCm39) |
|
probably benign |
Het |
| Dync1h1 |
A |
C |
12: 110,615,538 (GRCm39) |
Y2957S |
probably benign |
Het |
| Fcho1 |
A |
T |
8: 72,165,191 (GRCm39) |
L422Q |
probably benign |
Het |
| Gca |
T |
A |
2: 62,520,787 (GRCm39) |
Y210* |
probably null |
Het |
| Gpnmb |
T |
C |
6: 49,032,615 (GRCm39) |
V513A |
probably benign |
Het |
| Irx4 |
A |
G |
13: 73,415,786 (GRCm39) |
T192A |
probably damaging |
Het |
| Isca1 |
T |
C |
13: 59,906,785 (GRCm39) |
T54A |
probably benign |
Het |
| L3mbtl1 |
T |
C |
2: 162,812,100 (GRCm39) |
V715A |
probably benign |
Het |
| Lama1 |
G |
A |
17: 68,045,865 (GRCm39) |
D257N |
probably damaging |
Het |
| Lgr5 |
T |
C |
10: 115,314,439 (GRCm39) |
H166R |
probably damaging |
Het |
| M6pr |
A |
G |
6: 122,289,218 (GRCm39) |
R9G |
probably benign |
Het |
| Or8k30 |
G |
A |
2: 86,339,513 (GRCm39) |
A237T |
possibly damaging |
Het |
| Pank4 |
T |
C |
4: 155,059,103 (GRCm39) |
M412T |
probably damaging |
Het |
| Psd |
A |
G |
19: 46,303,186 (GRCm39) |
V100A |
possibly damaging |
Het |
| Rab11fip3 |
T |
C |
17: 26,235,087 (GRCm39) |
T28A |
probably damaging |
Het |
| Rnpepl1 |
A |
T |
1: 92,847,468 (GRCm39) |
D685V |
probably benign |
Het |
| Rrad |
T |
C |
8: 105,357,283 (GRCm39) |
E88G |
probably benign |
Het |
| Sdk2 |
T |
A |
11: 113,733,906 (GRCm39) |
M846L |
probably benign |
Het |
| Sparcl1 |
A |
T |
5: 104,242,581 (GRCm39) |
V36E |
possibly damaging |
Het |
| Srrm4 |
C |
T |
5: 116,605,628 (GRCm39) |
E210K |
unknown |
Het |
| Stk25 |
A |
T |
1: 93,551,145 (GRCm39) |
|
probably null |
Het |
| Tacr3 |
A |
T |
3: 134,635,810 (GRCm39) |
Y338F |
probably damaging |
Het |
| Tap2 |
A |
T |
17: 34,428,184 (GRCm39) |
Q286L |
probably benign |
Het |
| Tbce |
A |
T |
13: 14,184,325 (GRCm39) |
|
probably benign |
Het |
| Tubgcp5 |
C |
A |
7: 55,458,277 (GRCm39) |
A396E |
possibly damaging |
Het |
| Ube2o |
T |
C |
11: 116,430,960 (GRCm39) |
D980G |
probably damaging |
Het |
| Vmn1r86 |
T |
C |
7: 12,836,433 (GRCm39) |
M98V |
probably benign |
Het |
| Vmn2r58 |
T |
A |
7: 41,513,935 (GRCm39) |
H236L |
probably benign |
Het |
| Zfp521 |
T |
C |
18: 13,950,303 (GRCm39) |
H1217R |
probably damaging |
Het |
| Zfyve1 |
A |
T |
12: 83,601,779 (GRCm39) |
F110I |
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 |
|
|
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 |
2013-10-07 |
Incidental Mutation