Incidental Mutation 'IGL02808:Dusp19'
ID360500
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 #IGL02808
Quality Score
Status
Chromosome2
Chromosomal Location80617045-80632361 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 80617471 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 30 (K30E)
Ref Sequence ENSEMBL: ENSMUSP00000028384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028384]
Predicted Effect probably benign
Transcript: ENSMUST00000028384
AA Change: K30E

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000028384
Gene: ENSMUSG00000027001
AA Change: K30E

DomainStartEndE-ValueType
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
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adk C T 14: 21,103,833 P35S probably benign Het
Ankmy1 T A 1: 92,886,666 D373V probably damaging Het
Aox3 A G 1: 58,142,700 Y282C probably damaging Het
Bcas3 A G 11: 85,495,851 T371A probably benign Het
Bckdhb T C 9: 83,988,845 V136A probably benign Het
Ccdc18 G T 5: 108,135,969 probably benign Het
Cdc25a T A 9: 109,883,599 probably null Het
Ckap5 T A 2: 91,596,514 Y1394N probably damaging Het
Dhx15 A G 5: 52,161,699 V458A possibly damaging Het
Dram1 T C 10: 88,336,924 Y136C probably damaging Het
Elmo2 T C 2: 165,291,707 probably benign Het
Fcho1 G A 8: 71,712,541 S424L possibly damaging Het
Ganc A G 2: 120,411,511 T57A probably benign Het
Hgs T A 11: 120,469,666 Y63* probably null Het
March6 A T 15: 31,478,406 N594K probably benign Het
Muc5ac C A 7: 141,805,775 T1323N possibly damaging Het
Mycn T C 12: 12,939,892 S168G probably benign Het
Phf11d G T 14: 59,349,290 Q298K probably damaging Het
Pkd1 T A 17: 24,593,504 Y3804N probably damaging Het
Pramef25 T A 4: 143,951,015 probably benign Het
Prr14l A G 5: 32,828,182 I1323T possibly damaging Het
Pyroxd2 T C 19: 42,731,342 E475G probably benign Het
Ros1 T C 10: 52,125,889 K1046E probably damaging Het
Sema7a C T 9: 57,960,348 A461V probably benign Het
Slc30a2 T A 4: 134,344,049 I31N possibly damaging Het
Srebf1 C A 11: 60,201,713 probably null Het
Srms A T 2: 181,207,708 I301N probably damaging Het
Tmem130 A G 5: 144,743,623 Y324H probably damaging Het
Ttn G A 2: 76,771,258 T18654I probably benign Het
Vmn2r6 T A 3: 64,556,496 T306S 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
IGL03002:Dusp19 APN 2 80630935 missense probably damaging 1.00
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 On2015-12-18