Incidental Mutation 'R8920:Dyrk1a'
ID 679214
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 # R8920 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 94370869-94496376 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 94460488 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Arginine at position 48 (I48R)
Ref Sequence ENSEMBL: ENSMUSP00000120344 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023614] [ENSMUST00000119878] [ENSMUST00000122284] [ENSMUST00000139250] [ENSMUST00000155791]
AlphaFold Q61214
Predicted Effect probably benign
Transcript: ENSMUST00000023614
AA Change: I48R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023614
Gene: ENSMUSG00000022897
AA Change: I48R

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: I48R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113660
Gene: ENSMUSG00000022897
AA Change: I48R

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: I19R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112853
Gene: ENSMUSG00000022897
AA Change: I19R

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
Predicted Effect probably benign
Transcript: ENSMUST00000139250
AA Change: I48R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000155791
AA Change: I48R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000119669
Gene: ENSMUSG00000022897
AA Change: I48R

DomainStartEndE-ValueType
PDB:3ANR|D 126 181 6e-21 PDB
SCOP:d1howa_ 147 179 4e-7 SMART
Blast:S_TKc 159 181 5e-6 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa10 T A 8: 62,527,580 (GRCm39) Q160L probably benign Het
Apc2 A T 10: 80,149,934 (GRCm39) I1663L probably benign Het
Bahcc1 C G 11: 120,175,331 (GRCm39) R1802G probably damaging Het
C1qtnf1 T C 11: 118,339,068 (GRCm39) V246A possibly damaging Het
Cbl A G 9: 44,078,570 (GRCm39) M267T probably damaging Het
Cd300lf T C 11: 115,017,180 (GRCm39) K48E probably benign Het
Cfap46 G T 7: 139,232,442 (GRCm39) N840K Het
Cfap54 T A 10: 92,776,199 (GRCm39) probably null Het
Cnrip1 A C 11: 17,005,003 (GRCm39) K184N unknown Het
Dnah11 A T 12: 118,077,674 (GRCm39) L1273Q probably damaging Het
Exoc7 T C 11: 116,180,055 (GRCm39) E683G probably benign Het
Hdac1-ps A G 17: 78,799,171 (GRCm39) Y54C probably benign Het
Igtp A T 11: 58,096,999 (GRCm39) I57F probably damaging Het
Inhbb T C 1: 119,345,107 (GRCm39) N394S probably damaging Het
Jag1 T C 2: 136,931,143 (GRCm39) H663R probably benign Het
Kcna6 A G 6: 126,716,610 (GRCm39) F93S probably damaging Het
L1td1 C A 4: 98,624,864 (GRCm39) S353* probably null Het
Lgals12 T C 19: 7,576,166 (GRCm39) I253V possibly damaging Het
Lgals4 C T 7: 28,540,289 (GRCm39) R195C probably benign Het
Lrp1b A T 2: 42,213,610 (GRCm39) D67E Het
Lrrc43 T C 5: 123,639,194 (GRCm39) S408P probably benign Het
Madd T C 2: 91,007,168 (GRCm39) I315V probably benign Het
Mdn1 T C 4: 32,719,280 (GRCm39) F2281S probably damaging Het
Med13l A T 5: 118,885,543 (GRCm39) K1499* probably null Het
Myoc A G 1: 162,475,127 (GRCm39) E226G probably benign Het
Nmur1 T C 1: 86,315,577 (GRCm39) Y96C probably damaging Het
Nwd2 A T 5: 63,948,863 (GRCm39) D145V probably damaging Het
Or7g18 C A 9: 18,787,394 (GRCm39) T254K probably damaging Het
Paqr8 A T 1: 21,005,245 (GRCm39) Q133L probably damaging Het
Plbd2 T C 5: 120,630,915 (GRCm39) D230G probably damaging Het
Plekha7 A G 7: 115,744,218 (GRCm39) I694T probably benign Het
Rnf139 C T 15: 58,771,529 (GRCm39) T518I possibly damaging Het
Ryr1 G T 7: 28,789,640 (GRCm39) S1498R possibly damaging Het
Senp6 T A 9: 79,999,561 (GRCm39) S72T probably benign Het
Slc12a7 C T 13: 73,946,568 (GRCm39) P554S probably damaging Het
Slc6a2 C A 8: 93,687,990 (GRCm39) R39S probably benign Het
Snrpe T G 1: 133,534,199 (GRCm39) H88P probably benign Het
Stard9 T A 2: 120,533,088 (GRCm39) V3115E probably damaging Het
Stk39 C T 2: 68,302,191 (GRCm39) V11I unknown Het
Tapbpl T C 6: 125,205,214 (GRCm39) Y244C probably damaging Het
Tpx2 A G 2: 152,726,214 (GRCm39) E393G probably damaging Het
Vmn2r100 A T 17: 19,741,620 (GRCm39) N111Y probably damaging Het
Vstm4 C T 14: 32,585,615 (GRCm39) R61C probably damaging Het
Washc2 T A 6: 116,221,615 (GRCm39) F698I possibly damaging Het
Zfp467 G A 6: 48,415,414 (GRCm39) P413S probably benign Het
Zfp532 G T 18: 65,820,390 (GRCm39) A992S probably benign Het
Zfp622 G A 15: 25,996,321 (GRCm39) W430* probably null 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
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
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'- AAGTGGCTAAGGTACATCTGATGAC -3'
(R):5'- CTTCTGAGCATCATGTTTTGTCTACAG -3'

Sequencing Primer
(F):5'- ACACGTATGTCAGGCTGTGAGC -3'
(R):5'- GCATGTAAAACTGAAGCTGTT -3'
Posted On 2021-08-02