Incidental Mutation 'R5593:Dyrk1a'
ID 437662
Institutional Source Beutler Lab
Gene Symbol Dyrk1a
Ensembl Gene ENSMUSG00000022897
Gene Name dual-specificity tyrosine phosphorylation regulated kinase 1a
Synonyms 2310043O08Rik, Dyrk, D16Ertd272e, D16Ertd493e, Mnbh
MMRRC Submission 043145-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5593 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 94370869-94496376 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 94460442 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 33 (Q33K)
Ref Sequence ENSEMBL: ENSMUSP00000120344 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023614] [ENSMUST00000119878] [ENSMUST00000122284] [ENSMUST00000139250] [ENSMUST00000155791]
AlphaFold Q61214
Predicted Effect probably benign
Transcript: ENSMUST00000023614
AA Change: Q33K

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000023614
Gene: ENSMUSG00000022897
AA Change: Q33K

DomainStartEndE-ValueType
low complexity region 136 147 N/A INTRINSIC
S_TKc 159 479 6.63e-79 SMART
low complexity region 502 525 N/A INTRINSIC
low complexity region 599 620 N/A INTRINSIC
low complexity region 650 672 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119878
AA Change: Q33K

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000113660
Gene: ENSMUSG00000022897
AA Change: Q33K

DomainStartEndE-ValueType
low complexity region 136 147 N/A INTRINSIC
S_TKc 159 479 6.63e-79 SMART
low complexity region 502 525 N/A INTRINSIC
low complexity region 599 620 N/A INTRINSIC
low complexity region 650 672 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000122284
AA Change: Q4K

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000112853
Gene: ENSMUSG00000022897
AA Change: Q4K

DomainStartEndE-ValueType
low complexity region 127 138 N/A INTRINSIC
S_TKc 150 470 6.63e-79 SMART
low complexity region 493 516 N/A INTRINSIC
low complexity region 590 611 N/A INTRINSIC
low complexity region 641 663 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000139250
AA Change: Q33K

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000155791
AA Change: Q33K

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000119669
Gene: ENSMUSG00000022897
AA Change: Q33K

DomainStartEndE-ValueType
PDB:3ANR|D 126 181 6e-21 PDB
SCOP:d1howa_ 147 179 4e-7 SMART
Blast:S_TKc 159 181 5e-6 BLAST
Meta Mutation Damage Score 0.1271 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (71/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Dual-specificity tyrosine phosphorylation-regulated kinase (DYRK) family. This member contains a nuclear targeting signal sequence, a protein kinase domain, a leucine zipper motif, and a highly conservative 13-consecutive-histidine repeat. It catalyzes its autophosphorylation on serine/threonine and tyrosine residues. It may play a significant role in a signaling pathway regulating cell proliferation and may be involved in brain development. This gene is a homolog of Drosophila mnb (minibrain) gene and rat Dyrk gene. It is localized in the Down syndrome critical region of chromosome 21, and is considered to be a strong candidate gene for learning defects associated with Down syndrome. Alternative splicing of this gene generates several transcript variants differing from each other either in the 5' UTR or in the 3' coding region. These variants encode at least five different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted deletion present a general embryonic growth delay and die during midgestation. Heterozygotes display reduced postnatal survival, postnatal growth retardation, microcephaly, behavioral and motor deficits, and altered neocortical pyramidal cell morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930556J24Rik C T 11: 3,888,027 (GRCm39) V120I unknown Het
Anpep T G 7: 79,491,794 (GRCm39) K69T probably benign Het
Appbp2 A T 11: 85,085,409 (GRCm39) I499K possibly damaging Het
Copb2 A G 9: 98,469,091 (GRCm39) probably null Het
Cpa5 T C 6: 30,630,848 (GRCm39) I370T probably benign Het
Cpn2 T C 16: 30,078,898 (GRCm39) T268A probably benign Het
Ctbp2 C A 7: 132,600,598 (GRCm39) R99I possibly damaging Het
Cul1 G A 6: 47,462,020 (GRCm39) W196* probably null Het
Cul1 T C 6: 47,491,925 (GRCm39) F402L probably damaging Het
Cysltr2 T C 14: 73,266,931 (GRCm39) K260E probably benign Het
Elapor2 T A 5: 9,316,350 (GRCm39) L27Q probably benign Het
Epg5 T A 18: 78,000,689 (GRCm39) S542T probably damaging Het
Eps8l3 A T 3: 107,798,504 (GRCm39) probably benign Het
Evc2 A G 5: 37,544,321 (GRCm39) H690R probably damaging Het
Fam227a G A 15: 79,524,259 (GRCm39) probably benign Het
Gadl1 G T 9: 115,835,718 (GRCm39) G382V probably damaging Het
Gbf1 A G 19: 46,260,963 (GRCm39) Q1176R possibly damaging Het
Gdf9 A T 11: 53,324,558 (GRCm39) H109L probably damaging Het
Gsdmd T A 15: 75,738,856 (GRCm39) V411D probably damaging Het
Hdc T C 2: 126,460,504 (GRCm39) probably benign Het
Ifrd2 A G 9: 107,467,374 (GRCm39) D82G probably damaging Het
Itpkb T C 1: 180,161,661 (GRCm39) S596P probably damaging Het
Kcnmb3 A G 3: 32,546,096 (GRCm39) V8A possibly damaging Het
Lyst T G 13: 13,917,918 (GRCm39) I3326S probably damaging Het
Mcm9 G A 10: 53,414,393 (GRCm39) T229I probably damaging Het
Medag T A 5: 149,350,415 (GRCm39) F21L probably benign Het
Mefv A T 16: 3,533,315 (GRCm39) C319S probably benign Het
Mettl23 T A 11: 116,734,593 (GRCm39) V54D probably damaging Het
Mul1 A G 4: 138,166,543 (GRCm39) D199G probably damaging Het
Ncor1 A T 11: 62,260,130 (GRCm39) I266N probably damaging Het
Nek10 A T 14: 14,980,544 (GRCm38) K967* probably null Het
Nrcam A G 12: 44,606,483 (GRCm39) T410A probably damaging Het
Or1p1 A G 11: 74,179,618 (GRCm39) I49V possibly damaging Het
Or2b11 T C 11: 59,461,874 (GRCm39) R231G possibly damaging Het
Or52d13 C T 7: 103,109,592 (GRCm39) silent Het
Or52e4 T C 7: 104,705,711 (GRCm39) I86T probably damaging Het
Pate2 A T 9: 35,581,778 (GRCm39) D24V possibly damaging Het
Plcb3 T C 19: 6,932,117 (GRCm39) I1124V possibly damaging Het
Ptprc A T 1: 138,045,458 (GRCm39) probably benign Het
Rab6a T C 7: 100,257,378 (GRCm39) probably benign Het
Rnf208 G T 2: 25,133,345 (GRCm39) W13L possibly damaging Het
Rps6kl1 G T 12: 85,193,675 (GRCm39) Q139K possibly damaging Het
Sdk1 T A 5: 141,941,879 (GRCm39) I509N probably damaging Het
Sephs1 A G 2: 4,898,098 (GRCm39) I170V probably benign Het
Slc17a8 C T 10: 89,442,702 (GRCm39) D44N probably benign Het
Slc23a1 T A 18: 35,755,349 (GRCm39) I489F probably damaging Het
Slc25a19 A T 11: 115,507,418 (GRCm39) Y235N probably damaging Het
Slc47a2 A G 11: 61,233,486 (GRCm39) V40A probably benign Het
Slurp2 C T 15: 74,614,917 (GRCm39) V75I probably benign Het
Smc1b A C 15: 85,005,842 (GRCm39) M354R probably benign Het
Spice1 C A 16: 44,191,115 (GRCm39) A323E possibly damaging Het
Sptbn2 T A 19: 4,798,975 (GRCm39) V2015E probably damaging Het
Sptlc2 A C 12: 87,415,857 (GRCm39) F57V probably benign Het
Srsf1 A G 11: 87,938,705 (GRCm39) N14S possibly damaging Het
Ssh2 T A 11: 77,312,192 (GRCm39) D228E probably damaging Het
Synj2 A G 17: 6,088,390 (GRCm39) *1480W probably null Het
Syt14 A T 1: 192,613,231 (GRCm39) M523K probably damaging Het
Tff3 A T 17: 31,348,516 (GRCm39) V12E probably benign Het
Tgm2 C A 2: 157,969,262 (GRCm39) C371F probably damaging Het
Tmem260 A C 14: 48,711,501 (GRCm39) I197L probably benign Het
Unc5a A G 13: 55,152,747 (GRCm39) D887G possibly damaging Het
Vstm4 G T 14: 32,641,247 (GRCm39) A277S probably benign Het
Wdtc1 A T 4: 133,021,702 (GRCm39) probably null Het
Zan A G 5: 137,466,600 (GRCm39) F419S possibly damaging Het
Zfp317 G A 9: 19,558,584 (GRCm39) R266Q probably damaging Het
Zfp931 T A 2: 177,709,595 (GRCm39) T264S possibly damaging Het
Zpld2 T C 4: 133,920,350 (GRCm39) K605R probably damaging Het
Other mutations in Dyrk1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01443:Dyrk1a APN 16 94,485,943 (GRCm39) missense probably benign 0.21
IGL01599:Dyrk1a APN 16 94,492,743 (GRCm39) missense possibly damaging 0.94
IGL01809:Dyrk1a APN 16 94,460,476 (GRCm39) missense probably benign 0.00
IGL02201:Dyrk1a APN 16 94,493,008 (GRCm39) missense probably benign 0.05
IGL02345:Dyrk1a APN 16 94,472,221 (GRCm39) missense possibly damaging 0.88
IGL02508:Dyrk1a APN 16 94,486,042 (GRCm39) missense probably damaging 0.97
IGL02709:Dyrk1a APN 16 94,486,102 (GRCm39) missense probably benign 0.08
IGL02713:Dyrk1a APN 16 94,486,204 (GRCm39) splice site probably benign
R0414:Dyrk1a UTSW 16 94,464,701 (GRCm39) missense probably damaging 1.00
R2107:Dyrk1a UTSW 16 94,487,386 (GRCm39) missense probably damaging 1.00
R2394:Dyrk1a UTSW 16 94,485,991 (GRCm39) missense probably benign 0.02
R3124:Dyrk1a UTSW 16 94,469,660 (GRCm39) splice site probably benign
R3125:Dyrk1a UTSW 16 94,469,660 (GRCm39) splice site probably benign
R3792:Dyrk1a UTSW 16 94,485,933 (GRCm39) missense probably benign 0.31
R3963:Dyrk1a UTSW 16 94,464,605 (GRCm39) missense probably benign 0.00
R4573:Dyrk1a UTSW 16 94,492,882 (GRCm39) missense possibly damaging 0.90
R4652:Dyrk1a UTSW 16 94,492,924 (GRCm39) missense probably benign 0.02
R4965:Dyrk1a UTSW 16 94,492,854 (GRCm39) nonsense probably null
R5326:Dyrk1a UTSW 16 94,487,440 (GRCm39) missense probably damaging 0.98
R5540:Dyrk1a UTSW 16 94,486,202 (GRCm39) critical splice donor site probably null
R6313:Dyrk1a UTSW 16 94,460,373 (GRCm39) missense possibly damaging 0.95
R6396:Dyrk1a UTSW 16 94,472,299 (GRCm39) missense probably damaging 1.00
R6524:Dyrk1a UTSW 16 94,485,979 (GRCm39) missense probably benign 0.02
R7036:Dyrk1a UTSW 16 94,487,427 (GRCm39) missense probably benign 0.09
R7326:Dyrk1a UTSW 16 94,492,902 (GRCm39) missense probably damaging 0.97
R7861:Dyrk1a UTSW 16 94,492,575 (GRCm39) nonsense probably null
R7916:Dyrk1a UTSW 16 94,474,200 (GRCm39) missense probably damaging 1.00
R8310:Dyrk1a UTSW 16 94,492,650 (GRCm39) missense probably benign 0.02
R8669:Dyrk1a UTSW 16 94,464,650 (GRCm39) missense probably damaging 1.00
R8698:Dyrk1a UTSW 16 94,487,414 (GRCm39) missense possibly damaging 0.77
R8920:Dyrk1a UTSW 16 94,460,488 (GRCm39) missense probably benign
R8945:Dyrk1a UTSW 16 94,466,866 (GRCm39) missense probably damaging 1.00
R9233:Dyrk1a UTSW 16 94,466,913 (GRCm39) missense probably benign 0.00
R9390:Dyrk1a UTSW 16 94,474,330 (GRCm39) missense probably damaging 1.00
R9391:Dyrk1a UTSW 16 94,460,373 (GRCm39) missense possibly damaging 0.95
RF010:Dyrk1a UTSW 16 94,478,422 (GRCm39) missense probably benign
Z1176:Dyrk1a UTSW 16 94,492,621 (GRCm39) missense probably benign 0.06
Z1177:Dyrk1a UTSW 16 94,492,439 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- AAAGCACTAGTTTAAGTGGCTAAGG -3'
(R):5'- CTGAGCATCATGTTTTGTCTACAG -3'

Sequencing Primer
(F):5'- TGGCTAAGGTACATCTGATGACAC -3'
(R):5'- CTACTTAGCATGTAAAACTGAAGCTG -3'
Posted On 2016-10-26