Incidental Mutation 'IGL00584:Dusp19'
ID 332710
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: 0.168) question?
Stock # IGL00584
Quality Score
Status
Chromosome 2
Chromosomal Location 80447558-80462005 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 80461126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000028384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028384] [ENSMUST00000028384]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000028384
SMART Domains Protein: ENSMUSP00000028384
Gene: ENSMUSG00000027001

DomainStartEndE-ValueType
DSPc 64 202 7.6e-36 SMART
Predicted Effect probably null
Transcript: ENSMUST00000028384
SMART Domains Protein: ENSMUSP00000028384
Gene: ENSMUSG00000027001

DomainStartEndE-ValueType
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: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cep162 T C 9: 87,103,143 (GRCm39) probably benign Het
Ces4a G T 8: 105,871,795 (GRCm39) M288I probably benign Het
Eif4g1 C A 16: 20,505,504 (GRCm39) probably benign Het
Farp1 T G 14: 121,474,561 (GRCm39) I258S probably damaging Het
Galnt18 T A 7: 111,071,202 (GRCm39) Q589L probably damaging Het
Gimap7 T A 6: 48,700,667 (GRCm39) C84* probably null Het
Il12rb2 T C 6: 67,334,676 (GRCm39) T168A probably damaging Het
Krba1 T C 6: 48,383,252 (GRCm39) L216S possibly damaging Het
Mki67 T C 7: 135,297,424 (GRCm39) K2537E probably damaging Het
Myo6 G T 9: 80,149,555 (GRCm39) probably benign Het
Nbea T A 3: 55,989,869 (GRCm39) N329I probably damaging Het
Ndufb11 T A X: 20,483,339 (GRCm39) Q54L possibly damaging Het
Nudt1 T C 5: 140,323,465 (GRCm39) F139S probably damaging Het
Rgn A T X: 20,423,756 (GRCm39) M118L probably benign Het
Syt12 C T 19: 4,497,873 (GRCm39) V370M probably damaging Het
Syt14 A T 1: 192,612,792 (GRCm39) N669K possibly damaging Het
Other mutations in Dusp19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00329:Dusp19 APN 2 80,461,269 (GRCm39) missense probably damaging 0.97
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 2015-08-05