Incidental Mutation 'IGL03057:Dyrk3'
ID409265
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dyrk3
Ensembl Gene ENSMUSG00000016526
Gene Namedual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.262) question?
Stock #IGL03057
Quality Score
Status
Chromosome1
Chromosomal Location131127455-131138340 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 131129078 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 453 (V453I)
Ref Sequence ENSEMBL: ENSMUSP00000016670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016670] [ENSMUST00000189756]
Predicted Effect probably benign
Transcript: ENSMUST00000016670
AA Change: V453I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000016670
Gene: ENSMUSG00000016526
AA Change: V453I

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
S_TKc 208 521 2.45e-91 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000189756
SMART Domains Protein: ENSMUSP00000140050
Gene: ENSMUSG00000016526

DomainStartEndE-ValueType
PDB:4AZF|A 101 152 3e-18 PDB
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to the DYRK family of dual-specificity protein kinases that catalyze autophosphorylation on serine/threonine and tyrosine residues. The members of this family share structural similarity, however, differ in their substrate specificity, suggesting their involvement in different cellular functions. The encoded protein has been shown to autophosphorylate on tyrosine residue and catalyze phosphorylation of histones H3 and H2B in vitro. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit increased erythropoiesis in response to chemically-induced anemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,668,391 A1295V possibly damaging Het
Adgre4 T C 17: 55,799,602 probably benign Het
Atp8b2 A T 3: 89,944,186 Y901N probably damaging Het
Bud31 A G 5: 145,146,568 T74A probably benign Het
C4b C A 17: 34,737,764 probably benign Het
Ccdc92 G A 5: 124,835,689 Q259* probably null Het
Chfr C A 5: 110,143,609 Q98K probably benign Het
Ciita T A 16: 10,520,959 probably benign Het
Cnbd2 A T 2: 156,367,672 I512F possibly damaging Het
Cpa2 A G 6: 30,557,727 Y346C probably damaging Het
Cpxm1 A G 2: 130,393,189 L570P probably damaging Het
Cylc1 G A X: 111,122,601 G217D unknown Het
Dennd2a T C 6: 39,508,248 I366V probably damaging Het
Dis3 A T 14: 99,089,990 M359K possibly damaging Het
Dock10 T C 1: 80,567,371 N848S probably damaging Het
Ercc5 A G 1: 44,167,001 E358G probably damaging Het
Fam167b C A 4: 129,578,167 C70F possibly damaging Het
Fam71a A T 1: 191,162,944 S501T probably benign Het
Flt1 G T 5: 147,681,924 Y200* probably null Het
Ggh T C 4: 20,065,770 V288A probably benign Het
Glb1l2 T C 9: 26,806,290 probably benign Het
Gm28042 A G 2: 120,032,156 Y302C probably damaging Het
Gsta2 A G 9: 78,333,910 probably benign Het
Idh3b T A 2: 130,284,401 N6I probably benign Het
Irs4 A G X: 141,722,528 S891P unknown Het
Kcmf1 G T 6: 72,843,027 R330S probably benign Het
Kif26a G T 12: 112,175,774 E821* probably null Het
L3mbtl1 A G 2: 162,967,383 E670G probably damaging Het
Met A T 6: 17,558,766 D1131V probably damaging Het
Neo1 T C 9: 58,878,059 E1428G probably damaging Het
Odf2 A G 2: 29,923,645 probably benign Het
Ogfod1 T A 8: 94,056,138 L294H possibly damaging Het
Olfr933 G T 9: 38,976,218 V181F probably benign Het
Pcdhb20 A T 18: 37,504,798 I126L possibly damaging Het
Pcdhb9 A T 18: 37,401,277 Q108L probably benign Het
Prdm10 G T 9: 31,349,185 R645L probably damaging Het
Psmb11 T A 14: 54,625,779 C151* probably null Het
Reep1 T A 6: 71,807,781 probably benign Het
Reg3a G A 6: 78,381,956 A46T possibly damaging Het
Rnf213 T A 11: 119,441,087 I2374N probably damaging Het
Slc17a7 T C 7: 45,170,939 Y273H probably damaging Het
Smg6 T A 11: 74,935,434 Y238* probably null Het
Sorcs1 T A 19: 50,259,756 K411* probably null Het
Spta1 G T 1: 174,181,058 A243S probably benign Het
Tas2r135 A T 6: 42,401,127 probably benign Het
Tbx18 T C 9: 87,730,829 R6G probably damaging Het
Timp3 A G 10: 86,300,951 D33G possibly damaging Het
Ttf1 A G 2: 29,071,345 K582E probably damaging Het
Ubr5 C A 15: 38,040,906 probably benign Het
Ugt2b1 A G 5: 86,926,341 V53A possibly damaging Het
Ush2a G T 1: 188,797,838 G3275W probably damaging Het
Usp19 G A 9: 108,499,130 V1023M probably benign Het
Usp26 T C X: 51,757,258 I47V possibly damaging Het
Vapa A G 17: 65,594,907 V76A probably damaging Het
Vmn1r202 G A 13: 22,501,470 T259I probably benign Het
Vps13a T C 19: 16,668,694 N1993S probably damaging Het
Wdr59 G A 8: 111,476,118 R598C probably damaging Het
Wisp1 T C 15: 66,891,640 probably benign Het
Other mutations in Dyrk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00693:Dyrk3 APN 1 131136337 missense possibly damaging 0.71
IGL00910:Dyrk3 APN 1 131136336 missense possibly damaging 0.92
IGL02436:Dyrk3 APN 1 131128865 missense probably benign 0.00
PIT4576001:Dyrk3 UTSW 1 131130181 missense probably damaging 0.98
R0116:Dyrk3 UTSW 1 131129839 missense probably damaging 1.00
R0361:Dyrk3 UTSW 1 131130032 missense probably benign 0.00
R0457:Dyrk3 UTSW 1 131136357 missense possibly damaging 0.94
R0529:Dyrk3 UTSW 1 131130121 missense probably benign 0.00
R0724:Dyrk3 UTSW 1 131130140 missense probably benign 0.00
R1116:Dyrk3 UTSW 1 131129182 missense probably damaging 1.00
R2999:Dyrk3 UTSW 1 131129446 missense probably damaging 1.00
R3423:Dyrk3 UTSW 1 131129482 missense probably damaging 1.00
R4591:Dyrk3 UTSW 1 131130158 missense probably damaging 1.00
R5358:Dyrk3 UTSW 1 131129695 missense probably damaging 1.00
R5608:Dyrk3 UTSW 1 131128715 missense probably benign
R6767:Dyrk3 UTSW 1 131129590 missense probably damaging 0.99
R7072:Dyrk3 UTSW 1 131129728 missense probably damaging 1.00
R7744:Dyrk3 UTSW 1 131129806 missense probably damaging 1.00
R7775:Dyrk3 UTSW 1 131129627 missense possibly damaging 0.84
R7909:Dyrk3 UTSW 1 131129587 missense probably damaging 1.00
R7961:Dyrk3 UTSW 1 131136258 critical splice donor site probably null
R8009:Dyrk3 UTSW 1 131136258 critical splice donor site probably null
R8298:Dyrk3 UTSW 1 131129375 missense probably damaging 1.00
Z1088:Dyrk3 UTSW 1 131129233 missense probably damaging 1.00
Posted On2016-08-02