Incidental Mutation 'R4794:Dyrk4'
ID 368853
Institutional Source Beutler Lab
Gene Symbol Dyrk4
Ensembl Gene ENSMUSG00000030345
Gene Name dual-specificity tyrosine phosphorylation regulated kinase 4
Synonyms Dyrk4b, Dyrk4a
MMRRC Submission 042420-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4794 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 126852983-126898802 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 126862300 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 397 (N397K)
Ref Sequence ENSEMBL: ENSMUSP00000077606 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078521] [ENSMUST00000171945]
AlphaFold Q8BI55
Predicted Effect noncoding transcript
Transcript: ENSMUST00000032495
Predicted Effect possibly damaging
Transcript: ENSMUST00000078521
AA Change: N397K

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000077606
Gene: ENSMUSG00000030345
AA Change: N397K

DomainStartEndE-ValueType
S_TKc 219 515 2.9e-84 SMART
low complexity region 555 573 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171945
AA Change: N16K

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000128180
Gene: ENSMUSG00000030345
AA Change: N16K

DomainStartEndE-ValueType
Pfam:Pkinase 1 59 2.8e-14 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.5%
Validation Efficiency 97% (75/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that belongs to a conserved family of serine/threonine protein kinases. Members of this dual specificity kinase family are thought to function in the regulation of cell differentiation and proliferation, survival, and in development. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Aug 2013]
PHENOTYPE: Contrary to expectation, homozygous null males are fertile and do not exhibit any obvious dysfunction in spermatogenesis, sperm motility and fertilization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 A T 12: 81,468,198 (GRCm39) I141K probably damaging Het
Adgrb1 A G 15: 74,459,978 (GRCm39) E537G probably damaging Het
Asic3 C T 5: 24,620,895 (GRCm39) A259V probably damaging Het
Bcar1 G A 8: 112,447,552 (GRCm39) Q142* probably null Het
Bcas3 T C 11: 85,400,294 (GRCm39) V200A probably damaging Het
Cd302 A T 2: 60,102,493 (GRCm39) I42N probably benign Het
Colec12 C A 18: 9,848,984 (GRCm39) N387K probably damaging Het
Copa T A 1: 171,946,888 (GRCm39) I1032N probably damaging Het
D630003M21Rik G C 2: 158,038,059 (GRCm39) T1129S probably benign Het
D630045J12Rik G A 6: 38,171,420 (GRCm39) T916I possibly damaging Het
Dnajb13 C T 7: 100,153,199 (GRCm39) A241T probably damaging Het
Eftud2 T A 11: 102,761,003 (GRCm39) Y114F probably benign Het
Elp1 ACTTCTTCTTCTTCTTCTTCTTC ACTTCTTCTTCTTCTTCTTC 4: 56,781,176 (GRCm39) probably benign Het
Epm2a A G 10: 11,266,597 (GRCm39) D114G probably benign Het
Exoc5 T C 14: 49,286,357 (GRCm39) probably null Het
Fam135a G A 1: 24,068,241 (GRCm39) T706I probably benign Het
Fasn A G 11: 120,702,121 (GRCm39) V1845A probably benign Het
Fscn3 A G 6: 28,430,595 (GRCm39) E255G probably damaging Het
Galnt7 A T 8: 57,998,397 (GRCm39) Y311N probably damaging Het
Grid1 T C 14: 34,544,579 (GRCm39) L50P probably damaging Het
Hepacam2 A G 6: 3,475,933 (GRCm39) F331L probably damaging Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Kif1a T C 1: 92,953,449 (GRCm39) Y1245C probably damaging Het
Ltbp3 T C 19: 5,806,707 (GRCm39) F1022L probably damaging Het
Med16 G T 10: 79,735,951 (GRCm39) T399N probably damaging Het
Mfsd14a A T 3: 116,439,155 (GRCm39) probably benign Het
Myh7b G A 2: 155,465,186 (GRCm39) V681I probably benign Het
Ndc1 A G 4: 107,247,419 (GRCm39) E409G probably benign Het
Necap2 A G 4: 140,798,912 (GRCm39) probably benign Het
Or2a57 T A 6: 43,212,629 (GRCm39) L29H probably damaging Het
Or4p21 A T 2: 88,276,691 (GRCm39) M197K probably benign Het
Or7g29 C T 9: 19,286,841 (GRCm39) S112N probably benign Het
Parp12 G A 6: 39,094,744 (GRCm39) T117I probably benign Het
Pars2 C A 4: 106,511,407 (GRCm39) C396* probably null Het
Prg4 A T 1: 150,330,297 (GRCm39) probably benign Het
Prkg2 G A 5: 99,114,492 (GRCm39) T523I probably damaging Het
Prph T A 15: 98,955,308 (GRCm39) L425Q probably damaging Het
Ranbp9 A G 13: 43,567,552 (GRCm39) Y549H probably damaging Het
Rbm12 A T 2: 155,937,489 (GRCm39) probably benign Het
Reln T C 5: 22,549,183 (GRCm39) Y75C probably damaging Het
Rock2 G A 12: 16,990,408 (GRCm39) R110H probably damaging Het
Samd1 G A 8: 84,726,346 (GRCm39) E468K probably damaging Het
Samd11 T A 4: 156,333,922 (GRCm39) Q173L probably damaging Het
Scgb2b20 C A 7: 33,065,151 (GRCm39) G37V probably damaging Het
Sf1 C A 19: 6,425,694 (GRCm39) probably benign Het
Slc17a5 T A 9: 78,481,997 (GRCm39) H183L probably damaging Het
Slco1a7 A G 6: 141,713,288 (GRCm39) V31A probably benign Het
Smgc T A 15: 91,725,657 (GRCm39) S13T probably benign Het
Snapin A G 3: 90,398,092 (GRCm39) probably benign Het
Spata31e4 C G 13: 50,857,275 (GRCm39) P971R probably benign Het
Ssc5d C T 7: 4,946,744 (GRCm39) P1033S probably benign Het
Strn3 T C 12: 51,696,954 (GRCm39) E259G probably benign Het
Tbc1d32 A G 10: 56,072,932 (GRCm39) F238L possibly damaging Het
Tbck G A 3: 132,392,729 (GRCm39) V57M possibly damaging Het
Tgm3 A G 2: 129,883,875 (GRCm39) D511G probably benign Het
Tlr5 T C 1: 182,801,461 (GRCm39) V241A probably benign Het
Tmem181c-ps A G 17: 6,887,754 (GRCm39) noncoding transcript Het
Tnfrsf1a G A 6: 125,335,047 (GRCm39) C168Y probably damaging Het
Tph2 G T 10: 115,018,675 (GRCm39) L79I possibly damaging Het
Tsc1 G A 2: 28,551,702 (GRCm39) probably null Het
Ttc14 A T 3: 33,857,298 (GRCm39) M215L probably benign Het
Ube3c A G 5: 29,802,083 (GRCm39) N120S probably benign Het
Ubr2 A T 17: 47,241,371 (GRCm39) W1728R probably damaging Het
Vnn1 A G 10: 23,776,602 (GRCm39) T318A probably benign Het
Washc2 T C 6: 116,235,610 (GRCm39) V941A probably benign Het
Wdfy3 A G 5: 102,091,809 (GRCm39) V510A probably damaging Het
Wdsub1 A T 2: 59,693,188 (GRCm39) V272E possibly damaging Het
Xylt1 A C 7: 117,236,862 (GRCm39) D537A probably benign Het
Zfp57 A G 17: 37,321,022 (GRCm39) N292S possibly damaging Het
Other mutations in Dyrk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02474:Dyrk4 APN 6 126,857,194 (GRCm39) missense probably damaging 1.00
IGL02598:Dyrk4 APN 6 126,860,982 (GRCm39) intron probably benign
IGL02697:Dyrk4 APN 6 126,875,971 (GRCm39) missense possibly damaging 0.88
IGL03127:Dyrk4 APN 6 126,874,134 (GRCm39) missense possibly damaging 0.92
IGL03229:Dyrk4 APN 6 126,863,605 (GRCm39) unclassified probably benign
IGL03248:Dyrk4 APN 6 126,861,016 (GRCm39) missense probably benign 0.05
R0597:Dyrk4 UTSW 6 126,863,612 (GRCm39) splice site probably null
R0862:Dyrk4 UTSW 6 126,854,296 (GRCm39) missense possibly damaging 0.78
R0864:Dyrk4 UTSW 6 126,854,296 (GRCm39) missense possibly damaging 0.78
R1470:Dyrk4 UTSW 6 126,893,337 (GRCm39) nonsense probably null
R1470:Dyrk4 UTSW 6 126,893,337 (GRCm39) nonsense probably null
R1645:Dyrk4 UTSW 6 126,871,756 (GRCm39) nonsense probably null
R1650:Dyrk4 UTSW 6 126,876,792 (GRCm39) missense probably benign 0.28
R1885:Dyrk4 UTSW 6 126,854,144 (GRCm39) missense probably benign 0.15
R3947:Dyrk4 UTSW 6 126,862,268 (GRCm39) missense probably damaging 1.00
R3948:Dyrk4 UTSW 6 126,862,268 (GRCm39) missense probably damaging 1.00
R3949:Dyrk4 UTSW 6 126,862,268 (GRCm39) missense probably damaging 1.00
R5991:Dyrk4 UTSW 6 126,857,188 (GRCm39) missense probably benign 0.44
R6143:Dyrk4 UTSW 6 126,863,614 (GRCm39) critical splice donor site probably null
R6269:Dyrk4 UTSW 6 126,863,690 (GRCm39) missense probably damaging 1.00
R6572:Dyrk4 UTSW 6 126,874,201 (GRCm39) missense probably benign
R6598:Dyrk4 UTSW 6 126,853,289 (GRCm39) missense probably benign 0.20
R6703:Dyrk4 UTSW 6 126,867,045 (GRCm39) missense probably damaging 1.00
R6750:Dyrk4 UTSW 6 126,875,918 (GRCm39) missense probably benign 0.00
R7214:Dyrk4 UTSW 6 126,862,200 (GRCm39) missense probably benign 0.35
R7585:Dyrk4 UTSW 6 126,867,007 (GRCm39) missense probably damaging 1.00
R8101:Dyrk4 UTSW 6 126,868,612 (GRCm39) missense possibly damaging 0.87
R8203:Dyrk4 UTSW 6 126,871,797 (GRCm39) missense probably damaging 1.00
R8769:Dyrk4 UTSW 6 126,857,208 (GRCm39) missense possibly damaging 0.49
R8975:Dyrk4 UTSW 6 126,871,783 (GRCm39) missense probably benign 0.00
R9642:Dyrk4 UTSW 6 126,893,253 (GRCm39) missense probably benign 0.05
Z1176:Dyrk4 UTSW 6 126,869,091 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTAATGAACCCCAGAGCCTG -3'
(R):5'- CAGCTGGAAGGACTAGTCTATGGG -3'

Sequencing Primer
(F):5'- CAGAGCCTGAGGATGGATGTTATCC -3'
(R):5'- ACTAGTCTATGGGTAGATGACGC -3'
Posted On 2016-02-04