Incidental Mutation 'IGL03002:Dusp19'
ID407385
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dusp19
Ensembl Gene ENSMUSG00000027001
Gene Namedual specificity phosphatase 19
SynonymsSKRP1, TS-DSP1, 5930436K22Rik, C79103
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.223) question?
Stock #IGL03002
Quality Score
Status
Chromosome2
Chromosomal Location80617045-80632361 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 80630935 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 189 (N189K)
Ref Sequence ENSEMBL: ENSMUSP00000028384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028384]
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

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl T C 1: 66,836,969 I398V probably benign Het
Adcy4 A T 14: 55,773,556 C635S probably benign Het
Asic4 C A 1: 75,451,323 D164E possibly damaging Het
C8g T A 2: 25,498,811 *203L probably null Het
Cad T C 5: 31,054,986 V11A probably benign Het
Cckar T C 5: 53,702,905 N194S probably damaging Het
Cdc123 T C 2: 5,798,355 probably benign Het
Chrm5 T C 2: 112,480,361 T137A probably damaging Het
Cyp1a1 A G 9: 57,702,441 probably benign Het
Dapk3 G T 10: 81,190,603 E187* probably null Het
Dmtf1 T C 5: 9,140,474 E80G probably damaging Het
Gfral A G 9: 76,197,238 V164A possibly damaging Het
Hk1 A T 10: 62,271,799 V799E probably damaging Het
Iars2 C T 1: 185,322,816 probably null Het
Jcad T A 18: 4,675,153 Y972N probably benign Het
Lrp1 A T 10: 127,589,636 D708E probably damaging Het
Mbtd1 T A 11: 93,924,490 H301Q probably benign Het
Med12 A G X: 101,295,855 T2004A probably benign Het
Mib1 T C 18: 10,798,356 I739T possibly damaging Het
Mthfsd C T 8: 121,108,279 probably benign Het
Mybpc3 T G 2: 91,123,889 F369C probably damaging Het
Nfatc2 C T 2: 168,534,984 V329M probably damaging Het
Ngef A T 1: 87,509,392 probably null Het
Nlrp1b T C 11: 71,168,859 E759G probably benign Het
Olfr432 C A 1: 174,050,625 T84N probably benign Het
Prdm4 T C 10: 85,893,152 E790G probably benign Het
Psmd12 A G 11: 107,485,781 D81G probably benign Het
Rnf144b A G 13: 47,242,883 H232R probably damaging Het
Sec63 C T 10: 42,810,909 T475M possibly damaging Het
Slc16a4 A T 3: 107,300,786 N204I probably benign Het
Socs1 T C 16: 10,784,540 N111S probably damaging Het
Srpr A G 9: 35,214,721 N432D probably damaging Het
Srrm2 A G 17: 23,815,734 probably benign Het
Svs1 A G 6: 48,987,118 H20R probably benign Het
Tgoln1 A G 6: 72,616,072 S142P possibly damaging Het
Trbv13-1 A G 6: 41,116,235 N34S probably benign Het
Vmn2r26 T C 6: 124,039,795 V406A possibly damaging Het
Vsig1 G T X: 140,926,339 G79V probably damaging Het
Other mutations in Dusp19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00329:Dusp19 APN 2 80630925 missense probably damaging 0.97
IGL00584:Dusp19 APN 2 80630782 splice site probably null
IGL01291:Dusp19 APN 2 80624274 missense probably benign 0.01
IGL01592:Dusp19 APN 2 80617481 missense probably damaging 1.00
IGL02808:Dusp19 APN 2 80617471 missense probably benign 0.04
ANU05:Dusp19 UTSW 2 80624274 missense probably benign 0.01
P0033:Dusp19 UTSW 2 80617385 start codon destroyed probably null 1.00
R4815:Dusp19 UTSW 2 80630945 missense probably benign 0.00
R5715:Dusp19 UTSW 2 80630986 missense probably benign 0.43
R7693:Dusp19 UTSW 2 80617561 missense probably benign 0.00
R8073:Dusp19 UTSW 2 80617484 missense probably benign 0.01
Posted On2016-08-02