Incidental Mutation 'R8310:Dyrk1a'
ID 641349
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 067795-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8310 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 94370869-94496376 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94492650 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 628 (T628A)
Ref Sequence ENSEMBL: ENSMUSP00000023614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023614] [ENSMUST00000119878] [ENSMUST00000122284]
AlphaFold Q61214
Predicted Effect probably benign
Transcript: ENSMUST00000023614
AA Change: T628A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000023614
Gene: ENSMUSG00000022897
AA Change: T628A

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: T628A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000113660
Gene: ENSMUSG00000022897
AA Change: T628A

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
SMART Domains Protein: ENSMUSP00000112853
Gene: ENSMUSG00000022897
AA Change: T619A

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (50/51)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830005F24Rik T G 13: 48,667,727 (GRCm39) W10G unknown Het
Abca13 A T 11: 9,328,269 (GRCm39) K3447N possibly damaging Het
Agtr1a T G 13: 30,565,745 (GRCm39) V270G probably benign Het
Apob A T 12: 8,059,033 (GRCm39) H2505L probably benign Het
Babam1 T A 8: 71,850,629 (GRCm39) V86D possibly damaging Het
Cacna1s C A 1: 136,015,075 (GRCm39) N654K probably damaging Het
Ccdc146 A T 5: 21,506,469 (GRCm39) probably benign Het
Ccdc8 T C 7: 16,729,326 (GRCm39) S272P probably damaging Het
Cnksr1 T C 4: 133,956,730 (GRCm39) E510G probably damaging Het
Cnot6l A T 5: 96,239,535 (GRCm39) D255E probably benign Het
Ddx1 A C 12: 13,274,280 (GRCm39) probably benign Het
Elavl1 A T 8: 4,351,786 (GRCm39) I110N probably damaging Het
Emilin2 C G 17: 71,562,141 (GRCm39) D954H probably damaging Het
Erich3 C T 3: 154,410,586 (GRCm39) T147I Het
Galnt1 A T 18: 24,404,686 (GRCm39) H341L probably damaging Het
Gm14325 A T 2: 177,473,592 (GRCm39) C497S probably damaging Het
Gm4922 A T 10: 18,659,536 (GRCm39) N395K probably benign Het
Hsd17b2 G A 8: 118,469,155 (GRCm39) C189Y probably damaging Het
Kcnn1 A T 8: 71,305,449 (GRCm39) S254T possibly damaging Het
Lce1l G C 3: 92,757,766 (GRCm39) P31A unknown Het
Lrpprc A G 17: 85,080,524 (GRCm39) Y199H probably damaging Het
Lrrtm3 A T 10: 63,925,487 (GRCm39) probably null Het
Mon2 G T 10: 122,838,688 (GRCm39) A1598E probably damaging Het
Myh3 A T 11: 66,986,833 (GRCm39) probably null Het
Naa11 A T 5: 97,539,737 (GRCm39) D140E probably damaging Het
Nadk2 G A 15: 9,103,420 (GRCm39) R350Q probably benign Het
Npc1 T C 18: 12,326,455 (GRCm39) I1162V probably damaging Het
Or4e1 A G 14: 52,701,280 (GRCm39) M62T probably damaging Het
Or5v1 T C 17: 37,810,148 (GRCm39) I202T probably benign Het
Otogl A T 10: 107,613,461 (GRCm39) N2001K possibly damaging Het
Peg10 ACATCAGGATCC ACATCAGGATCCCCATCAGGATCC 6: 4,756,454 (GRCm39) probably benign Het
Pi4ka A G 16: 17,171,912 (GRCm39) probably null Het
Ppp2r5c A T 12: 110,512,259 (GRCm39) T185S possibly damaging Het
Psd2 A T 18: 36,112,766 (GRCm39) S154C probably damaging Het
Rnasel G A 1: 153,630,734 (GRCm39) V417M possibly damaging Het
Slc35g2 A G 9: 100,434,841 (GRCm39) S277P probably damaging Het
Slc36a2 A T 11: 55,070,158 (GRCm39) W140R possibly damaging Het
Slc6a12 A G 6: 121,340,250 (GRCm39) K512E probably damaging Het
Sox7 C T 14: 64,181,275 (GRCm39) S24L probably benign Het
Specc1 A G 11: 62,023,171 (GRCm39) K659E probably damaging Het
Stx18 T A 5: 38,285,383 (GRCm39) probably null Het
Svs5 C A 2: 164,080,091 (GRCm39) G25W probably damaging Het
Syne1 A G 10: 5,297,829 (GRCm39) M1156T probably benign Het
Tars2 T A 3: 95,658,271 (GRCm39) I185F probably benign Het
Thsd7a T C 6: 12,396,612 (GRCm39) I839V Het
Vmn1r115 T C 7: 20,578,819 (GRCm39) N31S probably damaging Het
Vmn1r57 A G 7: 5,224,024 (GRCm39) D183G probably damaging Het
Wdr7 C T 18: 63,868,756 (GRCm39) T275I probably damaging Het
Ybx2 A G 11: 69,831,194 (GRCm39) E263G probably damaging Het
Zbtb6 G T 2: 37,319,896 (GRCm39) Q11K probably benign Het
Zfp329 A T 7: 12,544,116 (GRCm39) C469* probably null Het
Zfp868 A T 8: 70,066,446 (GRCm39) L40H 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
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
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'- TGATAACCCTTTCACAATGCCC -3'
(R):5'- TCCAAGGTGTTAGCAGCCAC -3'

Sequencing Primer
(F):5'- TCTGGGATGGTCAGGCAC -3'
(R):5'- CCACTGGGCGGTTCTGATAG -3'
Posted On 2020-07-28