Incidental Mutation 'IGL03090:Dusp18'
ID 418332
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dusp18
Ensembl Gene ENSMUSG00000047205
Gene Name dual specificity phosphatase 18
Synonyms LMWDSP20, DUSP20, DSP18, 4930527G07Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03090
Quality Score
Status
Chromosome 11
Chromosomal Location 3845240-3851296 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 3847466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 152 (I152N)
Ref Sequence ENSEMBL: ENSMUSP00000105624 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020712] [ENSMUST00000055931] [ENSMUST00000109996]
AlphaFold Q8VE01
Predicted Effect probably benign
Transcript: ENSMUST00000020712
Predicted Effect probably damaging
Transcript: ENSMUST00000055931
AA Change: I152N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057346
Gene: ENSMUSG00000047205
AA Change: I152N

DomainStartEndE-ValueType
DSPc 19 157 2.75e-42 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109996
AA Change: I152N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105624
Gene: ENSMUSG00000047205
AA Change: I152N

DomainStartEndE-ValueType
DSPc 19 157 2.75e-42 SMART
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. DUSP18 contains the consensus DUSP C-terminal catalytic domain but 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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 A G 8: 41,247,965 (GRCm39) Y25C probably benign Het
Agap3 A C 5: 24,706,204 (GRCm39) T823P possibly damaging Het
Arap3 T C 18: 38,122,165 (GRCm39) E641G probably benign Het
Armc6 C T 8: 70,684,004 (GRCm39) R16Q probably benign Het
Asb15 T A 6: 24,567,185 (GRCm39) I502K possibly damaging Het
Atp8b3 T A 10: 80,366,438 (GRCm39) N275I probably damaging Het
Calr G A 8: 85,573,373 (GRCm39) P19S possibly damaging Het
Cdc6 T A 11: 98,810,122 (GRCm39) L477* probably null Het
Clba1 T C 12: 112,779,340 (GRCm39) probably null Het
Cnnm4 A G 1: 36,510,952 (GRCm39) D60G probably benign Het
Col12a1 G T 9: 79,585,652 (GRCm39) Q1242K probably damaging Het
Eef1akmt1 T C 14: 57,795,543 (GRCm39) T69A probably damaging Het
Efhb T C 17: 53,769,958 (GRCm39) Q117R probably benign Het
Fancd2 T A 6: 113,514,558 (GRCm39) probably null Het
Fat3 C T 9: 16,288,535 (GRCm39) W329* probably null Het
Frem3 A G 8: 81,344,858 (GRCm39) Y1727C probably benign Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gatb C A 3: 85,526,330 (GRCm39) probably benign Het
Gpr33 A T 12: 52,070,809 (GRCm39) S77T probably damaging Het
Gramd1c A T 16: 43,802,463 (GRCm39) D649E probably benign Het
Herc2 T A 7: 55,854,221 (GRCm39) L3745H probably damaging Het
Klk1b11 T A 7: 43,426,977 (GRCm39) M87K probably benign Het
Krt39 T G 11: 99,409,833 (GRCm39) probably benign Het
Lamc3 T A 2: 31,798,710 (GRCm39) probably benign Het
Lars2 T G 9: 123,285,025 (GRCm39) M786R probably damaging Het
Lmcd1 T A 6: 112,287,460 (GRCm39) S49T probably benign Het
Lrba T C 3: 86,680,448 (GRCm39) Y2689H probably benign Het
Map3k6 T C 4: 132,970,677 (GRCm39) V188A probably benign Het
Mbd6 A C 10: 127,123,013 (GRCm39) L49W probably damaging Het
Myo5a A T 9: 75,028,115 (GRCm39) Y100F probably damaging Het
Myo9a T A 9: 59,801,418 (GRCm39) probably benign Het
Ncoa7 T C 10: 30,538,396 (GRCm39) D663G probably damaging Het
Nup214 A T 2: 31,908,254 (GRCm39) M1075L probably benign Het
Pkd1l3 C A 8: 110,382,165 (GRCm39) Y240* probably null Het
Pomk T A 8: 26,473,338 (GRCm39) N205I probably damaging Het
Sdr16c5 A G 4: 4,006,575 (GRCm39) probably benign Het
Setd1a A G 7: 127,385,672 (GRCm39) E250G possibly damaging Het
Slc26a6 A G 9: 108,737,890 (GRCm39) E541G probably benign Het
Slc4a3 A G 1: 75,531,661 (GRCm39) E876G probably benign Het
Srrm4 A G 5: 116,587,643 (GRCm39) probably benign Het
Stx12 A G 4: 132,590,540 (GRCm39) V119A probably benign Het
Tmem8b T A 4: 43,689,721 (GRCm39) S333T probably damaging Het
Usp31 T C 7: 121,278,753 (GRCm39) probably benign Het
Utp18 T C 11: 93,759,245 (GRCm39) R410G probably damaging Het
Vmn1r172 T C 7: 23,359,463 (GRCm39) I116T probably damaging Het
Vwa8 T A 14: 79,172,041 (GRCm39) L274Q possibly damaging Het
Wdfy3 A T 5: 102,014,142 (GRCm39) F2655I probably damaging Het
Zfp423 A T 8: 88,508,071 (GRCm39) Y737N probably damaging Het
Zyx C A 6: 42,334,276 (GRCm39) S500* probably null Het
Other mutations in Dusp18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02253:Dusp18 APN 11 3,847,576 (GRCm39) makesense probably null
R0143:Dusp18 UTSW 11 3,847,243 (GRCm39) missense probably benign 0.00
R2419:Dusp18 UTSW 11 3,847,018 (GRCm39) missense possibly damaging 0.65
R5380:Dusp18 UTSW 11 3,847,037 (GRCm39) missense probably damaging 0.97
R5554:Dusp18 UTSW 11 3,847,202 (GRCm39) missense probably damaging 0.99
R6089:Dusp18 UTSW 11 3,847,555 (GRCm39) missense probably benign
Posted On 2016-08-02