Incidental Mutation 'IGL01443:Dyrk1a'
ID 84315
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01443
Quality Score
Status
Chromosome 16
Chromosomal Location 94370869-94496376 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94485943 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 430 (E430G)
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: E430G

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000023614
Gene: ENSMUSG00000022897
AA Change: E430G

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: E430G

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113660
Gene: ENSMUSG00000022897
AA Change: E430G

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: E392G

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000112853
Gene: ENSMUSG00000022897
AA Change: E392G

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
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 A G 11: 50,694,690 (GRCm39) E1159G possibly damaging Het
Adgrl3 A G 5: 81,613,134 (GRCm39) Y189C probably damaging Het
AW554918 G A 18: 25,478,012 (GRCm39) G446R probably damaging Het
Baiap3 A G 17: 25,464,121 (GRCm39) F884S possibly damaging Het
Cd101 T C 3: 100,910,887 (GRCm39) T924A probably benign Het
Cdk12 T A 11: 98,136,295 (GRCm39) V1183E unknown Het
Clcc1 T C 3: 108,578,219 (GRCm39) M240T probably benign Het
Dnmbp C A 19: 43,891,309 (GRCm39) A153S probably damaging Het
Dus4l T C 12: 31,702,409 (GRCm39) probably benign Het
Erc1 T C 6: 119,801,432 (GRCm39) K195R probably damaging Het
Evpl T C 11: 116,113,280 (GRCm39) E1470G probably damaging Het
Extl3 A T 14: 65,314,919 (GRCm39) S88T probably damaging Het
Fam135b A T 15: 71,335,213 (GRCm39) H660Q probably benign Het
Fat1 G A 8: 45,493,613 (GRCm39) G3920S probably damaging Het
Fbxo38 A G 18: 62,666,741 (GRCm39) V144A probably damaging Het
Grwd1 C T 7: 45,479,834 (GRCm39) probably null Het
Hdlbp T C 1: 93,358,796 (GRCm39) T252A probably damaging Het
Igkv3-1 A G 6: 70,681,088 (GRCm39) S96G possibly damaging Het
Igkv4-68 G T 6: 69,281,921 (GRCm39) F83L probably damaging Het
Klhl31 T C 9: 77,557,542 (GRCm39) V86A possibly damaging Het
Lypd3 G A 7: 24,336,063 (GRCm39) G17R probably benign Het
Manba T A 3: 135,250,589 (GRCm39) D405E probably damaging Het
Map3k19 A G 1: 127,766,244 (GRCm39) S227P probably benign Het
Nras T A 3: 102,969,751 (GRCm39) C118S probably benign Het
Or52n20 A G 7: 104,320,278 (GRCm39) D123G probably damaging Het
Pde8a T C 7: 80,973,929 (GRCm39) F629L probably damaging Het
Phtf2 A G 5: 20,987,265 (GRCm39) probably benign Het
Pik3c2a A T 7: 116,017,429 (GRCm39) F109L probably benign Het
Plod3 G A 5: 137,019,075 (GRCm39) R320H probably benign Het
Ppib T C 9: 65,972,879 (GRCm39) F152L probably damaging Het
Rbm19 T C 5: 120,281,503 (GRCm39) probably benign Het
Rgs12 T A 5: 35,132,563 (GRCm39) S628R probably benign Het
Ripk1 A G 13: 34,199,251 (GRCm39) D201G probably damaging Het
Speer4c2 A G 5: 15,857,642 (GRCm39) *212Q probably null Het
St14 G T 9: 31,011,489 (GRCm39) S434* probably null Het
Tbc1d9 A G 8: 83,966,560 (GRCm39) D387G probably damaging Het
Trio A G 15: 27,838,861 (GRCm39) probably benign Het
Ttn G A 2: 76,544,215 (GRCm39) R32924C probably damaging Het
Vmn1r181 T C 7: 23,684,006 (GRCm39) V157A possibly damaging Het
Zfp473 C T 7: 44,388,987 (GRCm39) D45N probably damaging Het
Other mutations in Dyrk1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-11-11