Incidental Mutation 'R3124:Dyrk1a'
ID 264215
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 040597-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3124 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 94370869-94496376 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 94469660 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119669 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023614] [ENSMUST00000119878] [ENSMUST00000122284] [ENSMUST00000139250] [ENSMUST00000155791]
AlphaFold Q61214
Predicted Effect probably benign
Transcript: ENSMUST00000023614
SMART Domains Protein: ENSMUSP00000023614
Gene: ENSMUSG00000022897

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
SMART Domains Protein: ENSMUSP00000113660
Gene: ENSMUSG00000022897

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
SMART Domains Protein: ENSMUSP00000112853
Gene: ENSMUSG00000022897

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 noncoding transcript
Transcript: ENSMUST00000134383
Predicted Effect probably benign
Transcript: ENSMUST00000139250
Predicted Effect probably benign
Transcript: ENSMUST00000155791
SMART Domains Protein: ENSMUSP00000119669
Gene: ENSMUSG00000022897

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (40/40)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16b G A 2: 181,136,319 (GRCm39) R407H possibly damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Cadm1 A G 9: 47,710,775 (GRCm39) E226G possibly damaging Het
Caskin2 T C 11: 115,695,623 (GRCm39) D246G probably damaging Het
Cd80 T A 16: 38,294,255 (GRCm39) V46E probably damaging Het
Ctr9 C T 7: 110,652,653 (GRCm39) R984C unknown Het
Dach2 T C X: 112,729,664 (GRCm39) I417T possibly damaging Het
Dcaf8l A T X: 88,448,327 (GRCm39) Y601N probably benign Het
Drd3 T C 16: 43,643,155 (GRCm39) F464L probably damaging Het
Fam227b T C 2: 125,966,006 (GRCm39) T140A probably benign Het
Fam91a1 A G 15: 58,293,738 (GRCm39) I101V probably benign Het
Fem1b T C 9: 62,703,836 (GRCm39) I475V probably benign Het
Glra3 A G 8: 56,578,244 (GRCm39) R434G possibly damaging Het
Hsd17b12 C T 2: 93,864,303 (GRCm39) R268Q probably benign Het
Iglc3 T C 16: 18,884,345 (GRCm39) probably benign Het
Khdrbs2 C A 1: 32,558,858 (GRCm39) R408L probably damaging Het
Loxhd1 A G 18: 77,518,774 (GRCm39) D1860G probably damaging Het
Mcpt8 A T 14: 56,321,398 (GRCm39) I22K probably damaging Het
Myo1h A G 5: 114,466,860 (GRCm39) I303V probably benign Het
Nipsnap2 G A 5: 129,825,098 (GRCm39) probably null Het
Nop2 G A 6: 125,109,164 (GRCm39) probably benign Het
Polr2a A T 11: 69,626,536 (GRCm39) S1566T possibly damaging Het
Pthlh A T 6: 147,164,789 (GRCm39) V27E probably damaging Het
Ralgps1 T C 2: 33,048,968 (GRCm39) T314A possibly damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Skil A G 3: 31,151,487 (GRCm39) N3S probably benign Het
Tas2r129 A G 6: 132,928,411 (GRCm39) N116S probably damaging Het
Tas2r140 T A 6: 133,032,204 (GRCm39) I185L probably benign Het
Tnpo1 GCACCTCTGCTTCCTC GCACCTCTGCTTCCTCACCTCTGCTTCCTC 13: 99,003,637 (GRCm39) probably null Het
Togaram1 G T 12: 65,013,118 (GRCm39) R123L probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Trim12a G T 7: 103,950,063 (GRCm39) T292K probably benign Het
Trim9 C T 12: 70,295,167 (GRCm39) G648R probably damaging Het
Trmt13 T C 3: 116,383,893 (GRCm39) I104V probably benign Het
Vav3 G A 3: 109,535,484 (GRCm39) probably null Het
Vmn1r87 A G 7: 12,865,493 (GRCm39) Y265H probably damaging Het
Zfp574 G T 7: 24,781,026 (GRCm39) A683S possibly 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
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
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
(F):5'- TCGAGGGAAGAAAACAGTTTCC -3'
(R):5'- GCATCGTGATGAGCCCTTAC -3'

Sequencing Primer
(F):5'- GAGGGAAGAAAACAGTTTCCATTTTG -3'
(R):5'- GTGATGAGCCCTTACCTATGTAGTAC -3'
Posted On 2015-02-05