Incidental Mutation 'R4573:Dyrk1a'
ID 342297
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 041598-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4573 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 94370869-94496376 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94492882 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 705 (Y705C)
Ref Sequence ENSEMBL: ENSMUSP00000113660 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023614] [ENSMUST00000119878] [ENSMUST00000122284]
AlphaFold Q61214
Predicted Effect possibly damaging
Transcript: ENSMUST00000023614
AA Change: Y705C

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000023614
Gene: ENSMUSG00000022897
AA Change: Y705C

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 possibly damaging
Transcript: ENSMUST00000119878
AA Change: Y705C

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113660
Gene: ENSMUSG00000022897
AA Change: Y705C

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 possibly damaging
Transcript: ENSMUST00000122284
AA Change: Y667C

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000112853
Gene: ENSMUSG00000022897
AA Change: Y667C

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: 97.2%
  • 20x: 95.1%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam15 T C 3: 89,253,293 (GRCm39) E212G probably damaging Het
Adam1b A C 5: 121,638,856 (GRCm39) S730A probably benign Het
Akr1b10 T C 6: 34,369,064 (GRCm39) V153A probably damaging Het
Ap1m2 T C 9: 21,217,054 (GRCm39) Y94C probably damaging Het
Arhgef33 T C 17: 80,672,711 (GRCm39) S320P probably damaging Het
Arsg T C 11: 109,408,108 (GRCm39) S87P probably damaging Het
Asic3 A G 5: 24,622,190 (GRCm39) Y458C probably damaging Het
Aspm G T 1: 139,407,245 (GRCm39) W2044L probably damaging Het
Atad2b T C 12: 5,004,663 (GRCm39) probably null Het
Atp1a2 T C 1: 172,106,204 (GRCm39) I869M possibly damaging Het
Bpifb2 C T 2: 153,731,412 (GRCm39) L263F probably damaging Het
C1s2 T C 6: 124,605,202 (GRCm39) probably null Het
Carf G T 1: 60,187,271 (GRCm39) A590S probably benign Het
Cbarp G T 10: 79,967,245 (GRCm39) D658E probably damaging Het
Cd1d2 A G 3: 86,894,861 (GRCm39) I78V probably benign Het
Cdc42bpb A T 12: 111,289,575 (GRCm39) M418K probably benign Het
Cdhr3 A T 12: 33,118,152 (GRCm39) probably null Het
Cep290 A G 10: 100,354,712 (GRCm39) K932R probably benign Het
Ces1d A C 8: 93,908,162 (GRCm39) N310K probably benign Het
Chka A G 19: 3,935,960 (GRCm39) K240R probably damaging Het
Cltb C T 13: 54,746,574 (GRCm39) R64H probably damaging Het
Cyp4f37 A G 17: 32,848,061 (GRCm39) E193G probably benign Het
Dhrs9 C A 2: 69,227,985 (GRCm39) H200N probably benign Het
Dnah6 T A 6: 73,063,164 (GRCm39) N2698I probably damaging Het
Dnah8 T C 17: 30,919,380 (GRCm39) S1118P probably benign Het
Elmod1 T C 9: 53,833,256 (GRCm39) N183S probably damaging Het
Fer1l6 G A 15: 58,498,129 (GRCm39) probably null Het
Fsip2 A T 2: 82,816,510 (GRCm39) Y4081F possibly damaging Het
Gsr A G 8: 34,183,881 (GRCm39) D381G probably benign Het
Gucy1a1 A G 3: 82,016,229 (GRCm39) L253S possibly damaging Het
Herc3 C A 6: 58,871,098 (GRCm39) T69K possibly damaging Het
Hoxb13 A G 11: 96,085,777 (GRCm39) Y170C probably damaging Het
Hsd3b5 T C 3: 98,526,964 (GRCm39) M161V probably benign Het
Lrp6 G A 6: 134,447,693 (GRCm39) R985* probably null Het
Marchf5 T A 19: 37,197,793 (GRCm39) I154K probably damaging Het
Mcemp1 A G 8: 3,715,835 (GRCm39) probably null Het
Mrpl2 G T 17: 46,959,967 (GRCm39) C212F possibly damaging Het
Mterf1a G A 5: 3,941,119 (GRCm39) R250W possibly damaging Het
Mthfd1 A G 12: 76,340,912 (GRCm39) probably null Het
Mul1 T C 4: 138,163,660 (GRCm39) F19L probably benign Het
Mycbp2 G T 14: 103,583,733 (GRCm39) A74E probably benign Het
Myo5a A T 9: 75,108,579 (GRCm39) probably null Het
Ncor2 A T 5: 125,132,889 (GRCm39) S33T probably damaging Het
Niban1 T C 1: 151,579,517 (GRCm39) V412A possibly damaging Het
Ninj1 A G 13: 49,348,463 (GRCm39) N191S probably damaging Het
Nrap T C 19: 56,330,770 (GRCm39) probably null Het
Ofcc1 G A 13: 40,168,864 (GRCm39) T841I probably damaging Het
Or1j21 T A 2: 36,683,491 (GRCm39) M81K probably damaging Het
Or1n1b T C 2: 36,780,202 (GRCm39) I219M probably damaging Het
Osbpl5 C A 7: 143,248,053 (GRCm39) V671L probably benign Het
Paics T C 5: 77,104,450 (GRCm39) L25S probably benign Het
Pcmtd1 A G 1: 7,190,591 (GRCm39) E20G probably damaging Het
Pgbd5 G A 8: 125,102,966 (GRCm39) Q228* probably null Het
Pnpla7 T C 2: 24,940,885 (GRCm39) V1079A probably damaging Het
Pou2f1 G A 1: 165,740,830 (GRCm39) T113I probably benign Het
Ppp1r14c A G 10: 3,413,416 (GRCm39) I150V possibly damaging Het
Ppp1r2 A G 16: 31,079,455 (GRCm39) Y115H possibly damaging Het
Ptchd4 T C 17: 42,813,668 (GRCm39) V523A probably benign Het
Rabep1 G C 11: 70,808,577 (GRCm39) S468T probably damaging Het
Rgs6 T A 12: 83,112,789 (GRCm39) W200R probably damaging Het
Ryr3 C T 2: 112,585,519 (GRCm39) probably null Het
Scamp2 A T 9: 57,484,477 (GRCm39) D20V probably damaging Het
Sec24d G A 3: 123,152,519 (GRCm39) V844M probably damaging Het
Septin10 T A 10: 59,028,151 (GRCm39) N57Y probably damaging Het
Sis T C 3: 72,835,570 (GRCm39) K931E possibly damaging Het
Slamf7 T C 1: 171,463,934 (GRCm39) T258A probably benign Het
Slc15a1 A G 14: 121,724,441 (GRCm39) S144P probably damaging Het
Slc6a7 A T 18: 61,135,253 (GRCm39) V425E probably benign Het
Syt7 C T 19: 10,416,576 (GRCm39) R253* probably null Het
Tm4sf1 A T 3: 57,202,206 (GRCm39) C2S possibly damaging Het
Trio CCTTCTTCTTCT CCTTCTTCT 15: 27,773,084 (GRCm39) probably benign Het
Trpm3 C T 19: 22,879,506 (GRCm39) H594Y probably damaging Het
Tshz1 A T 18: 84,033,207 (GRCm39) N400K probably damaging Het
Vat1 A T 11: 101,351,441 (GRCm39) M300K probably benign Het
Vmn1r70 C A 7: 10,367,556 (GRCm39) probably null Het
Vmn2r5 C T 3: 64,411,339 (GRCm39) D410N probably damaging Het
Yap1 T C 9: 7,934,682 (GRCm39) D428G probably damaging Het
Zbed6 A G 1: 133,587,127 (GRCm39) I70T probably benign Het
Zfp157 A G 5: 138,455,191 (GRCm39) Y463C 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
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'- GGTCTACAATTCTCCAACAAATAGC -3'
(R):5'- TCACGAGCTAGCTACAGGAC -3'

Sequencing Primer
(F):5'- CTCTACCCAGGATTCTATGGAGG -3'
(R):5'- GACTCTGTTGCACACAAACTCCTG -3'
Posted On 2015-09-24