Incidental Mutation 'R4965:Dyrk1a'
ID 383971
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4965 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 94370869-94496376 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 94492854 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Stop codon at position 658 (G658*)
Ref Sequence ENSEMBL: ENSMUSP00000112853 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023614] [ENSMUST00000119878] [ENSMUST00000122284]
AlphaFold Q61214
Predicted Effect probably null
Transcript: ENSMUST00000023614
AA Change: G696*
SMART Domains Protein: ENSMUSP00000023614
Gene: ENSMUSG00000022897
AA Change: G696*

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 null
Transcript: ENSMUST00000119878
AA Change: G696*
SMART Domains Protein: ENSMUSP00000113660
Gene: ENSMUSG00000022897
AA Change: G696*

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 null
Transcript: ENSMUST00000122284
AA Change: G658*
SMART Domains Protein: ENSMUSP00000112853
Gene: ENSMUSG00000022897
AA Change: G658*

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
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.7%
  • 20x: 90.1%
Validation Efficiency
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: 117 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,775,433 (GRCm39) T1541A probably benign Het
9530002B09Rik T C 4: 122,594,285 (GRCm39) M59T probably benign Het
Adam18 C T 8: 25,131,827 (GRCm39) C428Y probably damaging Het
Adcy5 A G 16: 35,098,872 (GRCm39) E700G possibly damaging Het
Adprh G T 16: 38,266,142 (GRCm39) Y333* probably null Het
Agfg2 C A 5: 137,665,439 (GRCm39) probably null Het
Akip1 A T 7: 109,310,961 (GRCm39) E167V probably damaging Het
Akr1c21 A T 13: 4,630,304 (GRCm39) Q199L probably damaging Het
Aldh9a1 C A 1: 167,193,358 (GRCm39) A455E probably damaging Het
Amph G A 13: 19,321,869 (GRCm39) S520N probably benign Het
Ankrd52 A G 10: 128,226,376 (GRCm39) D1006G probably benign Het
Ap5z1 A C 5: 142,453,431 (GRCm39) Q133P probably damaging Het
Babam1 C T 8: 71,857,032 (GRCm39) A331V possibly damaging Het
Btc T C 5: 91,510,160 (GRCm39) probably null Het
Cacna2d3 A G 14: 28,704,289 (GRCm39) F831L probably benign Het
Cadm3 G A 1: 173,164,664 (GRCm39) P372L probably damaging Het
Capn5 A T 7: 97,775,624 (GRCm39) M439K probably damaging Het
Carf T C 1: 60,189,796 (GRCm39) S639P probably damaging Het
Casp12 C T 9: 5,352,250 (GRCm39) R81C probably benign Het
Ces2e G T 8: 105,660,330 (GRCm39) R555M probably benign Het
Cfap54 T A 10: 92,902,661 (GRCm39) I164F probably benign Het
Cltc C T 11: 86,598,327 (GRCm39) V1012I probably damaging Het
Cmya5 G A 13: 93,232,295 (GRCm39) T931I possibly damaging Het
Cntn6 A G 6: 104,751,435 (GRCm39) I364V probably damaging Het
Cntnap1 A T 11: 101,068,251 (GRCm39) I59F possibly damaging Het
Cop1 T C 1: 159,067,167 (GRCm39) M80T probably damaging Het
Cplx2 A G 13: 54,527,460 (GRCm39) S115G possibly damaging Het
Crtac1 A G 19: 42,307,179 (GRCm39) Y195H probably damaging Het
Csn1s2a A C 5: 87,929,697 (GRCm39) S99R possibly damaging Het
Csn1s2b T A 5: 87,961,820 (GRCm39) D41E possibly damaging Het
Cul9 C T 17: 46,849,451 (GRCm39) D565N probably damaging Het
Cux1 A T 5: 136,340,410 (GRCm39) N625K possibly damaging Het
Cyp2c37 A T 19: 40,000,206 (GRCm39) M443L possibly damaging Het
Cyp2s1 G A 7: 25,508,710 (GRCm39) T244I possibly damaging Het
Dgkh C T 14: 78,861,861 (GRCm39) V135M probably damaging Het
Dtl T C 1: 191,278,677 (GRCm39) E395G possibly damaging Het
Erlin2 T C 8: 27,519,623 (GRCm39) F117S probably damaging Het
Fkbp8 A G 8: 70,984,173 (GRCm39) probably null Het
Fras1 T C 5: 96,874,439 (GRCm39) F2288S possibly damaging Het
Frmd3 A G 4: 74,071,837 (GRCm39) T240A probably damaging Het
H2-D1 A G 17: 35,482,881 (GRCm39) Y137C probably damaging Het
Helz2 A G 2: 180,882,709 (GRCm39) V28A possibly damaging Het
Hydin A G 8: 111,124,727 (GRCm39) I579V probably benign Het
Il6 A T 5: 30,218,491 (GRCm39) Y29F possibly damaging Het
Ildr2 A G 1: 166,135,409 (GRCm39) D368G probably damaging Het
Junb T A 8: 85,704,788 (GRCm39) I91F probably damaging Het
Kat2a C A 11: 100,603,029 (GRCm39) probably benign Het
Kat2a A T 11: 100,603,030 (GRCm39) probably benign Het
Kcnh5 T A 12: 75,011,925 (GRCm39) T665S probably benign Het
Kdm1b A T 13: 47,227,843 (GRCm39) D608V probably damaging Het
Krcc1 A G 6: 71,261,621 (GRCm39) K218E probably damaging Het
Krt8 C T 15: 101,905,386 (GRCm39) V488M probably benign Het
Lzts1 C T 8: 69,591,414 (GRCm39) A245T probably benign Het
Mcm6 T A 1: 128,287,223 (GRCm39) Q27L probably damaging Het
Mfsd4b3-ps G T 10: 39,823,686 (GRCm39) Y191* probably null Het
Mgme1 C T 2: 144,118,324 (GRCm39) Q199* probably null Het
Mgme1 T C 2: 144,121,540 (GRCm39) L332P probably benign Het
Morc3 G T 16: 93,657,475 (GRCm39) E25* probably null Het
Mroh7 G A 4: 106,548,184 (GRCm39) A1098V possibly damaging Het
Mtrf1 G A 14: 79,644,027 (GRCm39) R174H probably benign Het
Mybpc3 G A 2: 90,949,592 (GRCm39) G45D possibly damaging Het
Mycbpap A T 11: 94,395,764 (GRCm39) N733K probably damaging Het
N4bp1 T C 8: 87,578,314 (GRCm39) I684V possibly damaging Het
Nav2 A T 7: 49,202,625 (GRCm39) R1470* probably null Het
Ndufa9 A T 6: 126,799,026 (GRCm39) S364T probably benign Het
Nipal4 C A 11: 46,052,837 (GRCm39) A43S possibly damaging Het
Nlrp1a T A 11: 70,983,141 (GRCm39) Y1275F possibly damaging Het
Nova1 A T 12: 46,767,618 (GRCm39) L8* probably null Het
Odam G T 5: 88,037,967 (GRCm39) G181* probably null Het
Optn T A 2: 5,026,190 (GRCm39) Q576L probably benign Het
Or2c1 T C 16: 3,657,434 (GRCm39) L199P probably damaging Het
Or4k47 T C 2: 111,451,879 (GRCm39) D180G probably damaging Het
Or4l1 C T 14: 50,166,354 (GRCm39) V216I probably benign Het
Or51a39 A T 7: 102,362,702 (GRCm39) I306N probably damaging Het
Or5as1 T A 2: 86,981,003 (GRCm39) M1L possibly damaging Het
Or5h18 A T 16: 58,847,696 (GRCm39) D191E probably damaging Het
Or8s2 T C 15: 98,277,030 (GRCm39) probably benign Het
Patl2 G T 2: 121,959,329 (GRCm39) S45* probably null Het
Pde2a G A 7: 101,152,140 (GRCm39) G349E probably benign Het
Pdlim2 T A 14: 70,405,464 (GRCm39) probably benign Het
Per1 T C 11: 68,995,227 (GRCm39) V653A probably benign Het
Phlda2 A G 7: 143,056,005 (GRCm39) S75P probably damaging Het
Poldip3 A T 15: 83,021,706 (GRCm39) M167K possibly damaging Het
Potegl C A 2: 23,135,127 (GRCm39) T312K probably benign Het
Prpf38a T C 4: 108,436,278 (GRCm39) I12V probably benign Het
Prrc1 G A 18: 57,507,622 (GRCm39) V259I possibly damaging Het
Ptges3l A T 11: 101,315,448 (GRCm39) M1K probably null Het
Rdh5 A G 10: 128,749,653 (GRCm39) Y296H probably damaging Het
Resf1 G T 6: 149,229,896 (GRCm39) G981* probably null Het
Rnf2 T A 1: 151,348,968 (GRCm39) K51* probably null Het
Rpusd3 C A 6: 113,393,809 (GRCm39) R215L probably benign Het
Rsph4a A T 10: 33,785,236 (GRCm39) E382D probably damaging Het
S1pr2 G A 9: 20,879,745 (GRCm39) Q28* probably null Het
Sesn1 A T 10: 41,771,005 (GRCm39) I179F probably damaging Het
Setd3 T A 12: 108,079,630 (GRCm39) E291V probably benign Het
Shc1 G T 3: 89,334,303 (GRCm39) R323L probably damaging Het
Slc22a5 T C 11: 53,782,352 (GRCm39) D5G possibly damaging Het
Slc6a19 T C 13: 73,848,677 (GRCm39) K26E probably benign Het
Slc9a3 A G 13: 74,312,412 (GRCm39) N670D possibly damaging Het
Spata19 A T 9: 27,311,761 (GRCm39) I127L probably benign Het
Speg G T 1: 75,404,347 (GRCm39) V2751L probably damaging Het
Sptbn2 A G 19: 4,779,337 (GRCm39) D298G probably benign Het
Srm T C 4: 148,678,640 (GRCm39) V289A possibly damaging Het
Stip1 C T 19: 7,012,938 (GRCm39) A49T probably benign Het
Tas2r118 C A 6: 23,969,627 (GRCm39) V145F probably benign Het
Tbc1d12 A T 19: 38,854,169 (GRCm39) K284* probably null Het
Tfcp2 T C 15: 100,423,531 (GRCm39) H125R probably damaging Het
Tfdp1 T C 8: 13,423,073 (GRCm39) V206A probably damaging Het
Tgtp2 A G 11: 48,950,237 (GRCm39) W112R probably damaging Het
Tmem71 T G 15: 66,410,710 (GRCm39) M221L probably benign Het
Tpcn1 T C 5: 120,685,552 (GRCm39) N436S possibly damaging Het
Usp4 C T 9: 108,239,819 (GRCm39) L183F probably damaging Het
Vmn2r55 A T 7: 12,404,478 (GRCm39) N308K possibly damaging Het
Zfp106 T A 2: 120,364,400 (GRCm39) D669V probably damaging Het
Zfp108 A T 7: 23,959,573 (GRCm39) I55L probably benign Het
Zfp512b A T 2: 181,228,131 (GRCm39) S8R probably damaging Het
Zfp827 T C 8: 79,787,910 (GRCm39) S359P probably benign 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
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
R5593:Dyrk1a UTSW 16 94,460,442 (GRCm39) missense possibly damaging 0.64
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

Sequencing Primer
Posted On 2016-04-27