Incidental Mutation 'R5540:Dyrk1a'
ID 435924
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 043098-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5540 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 94370869-94496376 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to G at 94486202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112853 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023614] [ENSMUST00000119878] [ENSMUST00000122284]
AlphaFold Q61214
Predicted Effect probably null
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 null
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 null
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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008O03Rik A G 7: 44,012,371 (GRCm39) S15P probably damaging Het
Actl7a A T 4: 56,744,388 (GRCm39) H305L probably benign Het
Adam26b C A 8: 43,974,654 (GRCm39) C116F probably damaging Het
Adgrl2 A G 3: 148,543,198 (GRCm39) probably null Het
Akr1b10 A G 6: 34,371,047 (GRCm39) T238A probably damaging Het
Akr1c18 A G 13: 4,187,178 (GRCm39) V186A probably benign Het
Alpk3 G A 7: 80,745,184 (GRCm39) V1311M probably damaging Het
Aox1 A G 1: 58,143,569 (GRCm39) N1229S probably benign Het
Apobec3 T A 15: 79,782,120 (GRCm39) N43K probably benign Het
Arid1a A C 4: 133,407,765 (GRCm39) D2247E unknown Het
Asph A G 4: 9,635,906 (GRCm39) L77S probably damaging Het
Cd300ld T A 11: 114,878,231 (GRCm39) T94S probably damaging Het
Celf2 T C 2: 6,558,743 (GRCm39) T382A probably benign Het
Cfap54 C T 10: 92,808,470 (GRCm39) A1402T possibly damaging Het
Chrnb1 A T 11: 69,686,476 (GRCm39) V48E probably benign Het
Col6a5 T A 9: 105,739,975 (GRCm39) E2548V probably benign Het
Crebrf A G 17: 26,961,071 (GRCm39) D56G possibly damaging Het
Dctn5 A G 7: 121,734,275 (GRCm39) T40A probably benign Het
Dmxl2 A T 9: 54,301,141 (GRCm39) N2323K probably benign Het
Dync1h1 A G 12: 110,627,384 (GRCm39) Q4021R probably benign Het
Ephb3 T A 16: 21,039,610 (GRCm39) F454Y probably damaging Het
Fbxo38 A G 18: 62,647,864 (GRCm39) probably null Het
Flg T C 3: 93,184,923 (GRCm39) F15S probably damaging Het
Fndc3b G A 3: 27,555,651 (GRCm39) P301L probably damaging Het
Fpr-rs7 C T 17: 20,334,356 (GRCm39) G45R probably damaging Het
Garin3 A G 11: 46,295,715 (GRCm39) N29S probably damaging Het
Gfi1 T A 5: 107,867,991 (GRCm39) T360S probably damaging Het
Grik4 T C 9: 42,432,243 (GRCm39) H918R probably damaging Het
Hpx A G 7: 105,241,119 (GRCm39) S385P possibly damaging Het
Kdm5b A G 1: 134,558,979 (GRCm39) D1501G probably damaging Het
Kif20b A T 19: 34,915,860 (GRCm39) M546L probably benign Het
Map3k9 G T 12: 81,819,587 (GRCm39) N222K probably damaging Het
Me1 A G 9: 86,561,926 (GRCm39) L53P possibly damaging Het
Mis18bp1 T C 12: 65,195,520 (GRCm39) E748G possibly damaging Het
Morc3 T A 16: 93,644,268 (GRCm39) N186K probably benign Het
Mtor A G 4: 148,539,165 (GRCm39) T221A probably benign Het
Muc6 A G 7: 141,235,850 (GRCm39) probably null Het
Myh8 C A 11: 67,177,266 (GRCm39) T444N probably benign Het
Myo7b A G 18: 32,140,143 (GRCm39) Y216H probably damaging Het
Myom1 G A 17: 71,416,782 (GRCm39) V1382M probably damaging Het
Nbeal2 A T 9: 110,460,801 (GRCm39) Y1718N probably damaging Het
Npc1l1 A G 11: 6,164,546 (GRCm39) S1168P probably damaging Het
Or4c58 A G 2: 89,675,011 (GRCm39) F102S probably damaging Het
Or4d2 T A 11: 87,784,511 (GRCm39) K80* probably null Het
Or51f5 C T 7: 102,424,136 (GRCm39) A135V probably benign Het
Or5an9 T A 19: 12,187,824 (GRCm39) I298N probably damaging Het
Or6c8b G T 10: 128,882,364 (GRCm39) D189E probably damaging Het
Pcdha4 C A 18: 37,087,890 (GRCm39) A691E probably benign Het
Pde6a T G 18: 61,364,438 (GRCm39) F165V probably damaging Het
Ptpn14 A T 1: 189,578,561 (GRCm39) M340L probably benign Het
Rnasel G T 1: 153,630,890 (GRCm39) E469* probably null Het
Rsph3a T G 17: 8,164,790 (GRCm39) L50R probably benign Het
Rusc2 A G 4: 43,423,975 (GRCm39) Y1043C probably damaging Het
Serpinb6b A T 13: 33,161,541 (GRCm39) K86* probably null Het
Serpine1 T C 5: 137,092,063 (GRCm39) T392A probably benign Het
Shcbp1 A T 8: 4,794,529 (GRCm39) D421E probably damaging Het
Slc24a1 A G 9: 64,855,863 (GRCm39) V348A unknown Het
Slc26a7 A G 4: 14,506,621 (GRCm39) F605L probably benign Het
Slc66a1 A T 4: 139,027,655 (GRCm39) L229Q probably damaging Het
Spag17 A C 3: 99,963,588 (GRCm39) E1102A possibly damaging Het
Stab2 A G 10: 86,683,989 (GRCm39) V2390A probably benign Het
Stk11 A G 10: 79,961,883 (GRCm39) I35V probably benign Het
Stk24 T C 14: 121,531,693 (GRCm39) D321G possibly damaging Het
Tbx4 A T 11: 85,801,994 (GRCm39) N209I possibly damaging Het
Tmem225 T C 9: 40,060,681 (GRCm39) L80P probably damaging Het
Tnfrsf4 C T 4: 156,098,380 (GRCm39) T17I probably benign Het
Traf3ip1 G A 1: 91,429,037 (GRCm39) R268Q probably benign Het
Trhde T A 10: 114,636,497 (GRCm39) I237F probably benign Het
Ugt2a1 A T 5: 87,633,915 (GRCm39) W231R probably damaging Het
Vash1 ACTGCTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGC 12: 86,726,831 (GRCm39) probably benign Het
Vps16 T A 2: 130,284,305 (GRCm39) D685E probably benign Het
Washc4 A G 10: 83,409,657 (GRCm39) D602G probably damaging Het
Wdr59 A G 8: 112,211,816 (GRCm39) L377P possibly damaging Het
Wdr81 T C 11: 75,339,896 (GRCm39) E1364G 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
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'- TGATTATGACCCCAAAACTCGG -3'
(R):5'- GGGTACTGAATTCAGAGCCACAC -3'

Sequencing Primer
(F):5'- GGATTCAACCTTATTATGCCCTGCAG -3'
(R):5'- GGGAACATGTGTCTTAAATCCCAGC -3'
Posted On 2016-10-24