Incidental Mutation 'R3792:Dyrk1a'
ID 272611
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 # R3792 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 94370869-94496376 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 94485933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 427 (L427I)
Ref Sequence ENSEMBL: ENSMUSP00000113660 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023614] [ENSMUST00000119878] [ENSMUST00000122284]
AlphaFold Q61214
Predicted Effect probably benign
Transcript: ENSMUST00000023614
AA Change: L427I

PolyPhen 2 Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000023614
Gene: ENSMUSG00000022897
AA Change: L427I

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: L427I

PolyPhen 2 Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113660
Gene: ENSMUSG00000022897
AA Change: L427I

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: L389I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112853
Gene: ENSMUSG00000022897
AA Change: L389I

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930595M18Rik A G X: 80,464,423 (GRCm39) V428A probably benign Het
Aanat T C 11: 116,487,057 (GRCm39) L88P probably damaging Het
Arhgap5 A T 12: 52,566,671 (GRCm39) N1214I probably benign Het
BC034090 A T 1: 155,117,543 (GRCm39) S192T probably damaging Het
Bco1 G A 8: 117,857,415 (GRCm39) V461I possibly damaging Het
Cass4 C T 2: 172,274,478 (GRCm39) P753L probably damaging Het
Cripto C T 9: 110,772,258 (GRCm39) R46Q probably benign Het
Cubn G A 2: 13,432,725 (GRCm39) R1199C probably damaging Het
Dcaf12l1 T C X: 43,877,313 (GRCm39) N495S possibly damaging Het
Dop1b C A 16: 93,568,734 (GRCm39) Q1599K possibly damaging Het
Esp16 T C 17: 39,848,739 (GRCm39) I11T possibly damaging Het
Esyt3 A T 9: 99,197,334 (GRCm39) F832Y possibly damaging Het
F8 A T X: 74,328,971 (GRCm39) probably null Het
Fam135a T C 1: 24,067,392 (GRCm39) Y259C probably benign Het
Fbxo38 T C 18: 62,666,533 (GRCm39) probably null Het
Fbxo43 T C 15: 36,163,005 (GRCm39) I67M probably benign Het
Gcfc2 G T 6: 81,907,748 (GRCm39) C154F probably benign Het
Hipk2 C T 6: 38,675,491 (GRCm39) R1029H probably damaging Het
Ilk G A 7: 105,391,294 (GRCm39) W73* probably null Het
Ism1 T C 2: 139,582,173 (GRCm39) S162P probably damaging Het
Itpkb T A 1: 180,160,738 (GRCm39) L288Q possibly damaging Het
Itpr2 C A 6: 146,316,852 (GRCm39) K306N probably damaging Het
Kdm2a C T 19: 4,374,540 (GRCm39) E864K possibly damaging Het
Kdm4b G A 17: 56,662,944 (GRCm39) V172M probably damaging Het
Kyat3 A T 3: 142,443,605 (GRCm39) K406M probably null Het
Lipe T A 7: 25,097,045 (GRCm39) K299N possibly damaging Het
Lrrc2 T A 9: 110,795,585 (GRCm39) C123* probably null Het
Mptx2 T A 1: 173,102,240 (GRCm39) I150F probably damaging Het
Mroh2b G T 15: 4,953,102 (GRCm39) W612L probably damaging Het
Mucl2 T C 15: 103,928,692 (GRCm39) T27A possibly damaging Het
Nfx1 T A 4: 41,004,357 (GRCm39) C709* probably null Het
Oprm1 T C 10: 6,789,544 (GRCm39) S390P probably benign Het
Or2m12 A G 16: 19,104,696 (GRCm39) S266P possibly damaging Het
Or51v8 A T 7: 103,319,353 (GRCm39) I295N probably damaging Het
Pcdhb14 T C 18: 37,582,715 (GRCm39) L607P probably damaging Het
Rap1gds1 A T 3: 138,671,721 (GRCm39) I133N probably damaging Het
Rasl10a T C 11: 5,009,461 (GRCm39) L83S probably damaging Het
Satb2 C T 1: 56,884,779 (GRCm39) V382M probably damaging Het
Sh3gl1 T C 17: 56,325,949 (GRCm39) K160R probably damaging Het
Sirt4 T C 5: 115,618,351 (GRCm39) D241G probably benign Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Spef2 A G 15: 9,704,622 (GRCm39) I454T probably damaging Het
Stag3 A G 5: 138,296,611 (GRCm39) K490E probably benign Het
Tcstv7b G T 13: 120,702,467 (GRCm39) V88F probably damaging Het
Tctn3 T C 19: 40,600,155 (GRCm39) K95R probably benign Het
Trp53bp1 T C 2: 121,030,810 (GRCm39) I1784V probably damaging Het
Ttc21a A T 9: 119,783,231 (GRCm39) E511V probably damaging Het
Ttn A G 2: 76,542,232 (GRCm39) F25258L probably damaging Het
Ttn A C 2: 76,639,290 (GRCm39) C13828G probably damaging Het
Vmn1r210 T A 13: 23,011,573 (GRCm39) M238L probably damaging Het
Vmn1r38 A G 6: 66,753,891 (GRCm39) I75T probably benign Het
Vmn2r84 T A 10: 130,221,669 (GRCm39) *850C probably null Het
Vwa7 T C 17: 35,244,135 (GRCm39) probably null Het
Zfp128 T A 7: 12,618,659 (GRCm39) D52E probably damaging Het
Zfp618 T C 4: 63,033,728 (GRCm39) probably benign Het
Zkscan2 T A 7: 123,084,225 (GRCm39) E633V 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
R3124:Dyrk1a UTSW 16 94,469,660 (GRCm39) splice site probably benign
R3125:Dyrk1a UTSW 16 94,469,660 (GRCm39) splice site probably benign
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'- ACATGCTTAAGTGTTATGTGCAGAG -3'
(R):5'- GGCTGGTAGACACACTGTTAC -3'

Sequencing Primer
(F):5'- CTTAAGTGTTATGTGCAGAGTGAGG -3'
(R):5'- AGACACACTGTTACTTGTGTTGGTAC -3'
Posted On 2015-03-25