Incidental Mutation 'IGL03127:Dyrk4'
ID410179
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dyrk4
Ensembl Gene ENSMUSG00000030345
Gene Namedual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4
SynonymsDyrk4a, Dyrk4b
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03127
Quality Score
Status
Chromosome6
Chromosomal Location126876020-126921839 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 126897171 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 152 (T152I)
Ref Sequence ENSEMBL: ENSMUSP00000077606 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078521]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000032495
Predicted Effect possibly damaging
Transcript: ENSMUST00000078521
AA Change: T152I

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000077606
Gene: ENSMUSG00000030345
AA Change: T152I

DomainStartEndE-ValueType
S_TKc 219 515 2.9e-84 SMART
low complexity region 555 573 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 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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Amdhd2 A G 17: 24,157,738 probably null Het
Apol7c A G 15: 77,525,906 M280T probably benign Het
Atl2 T C 17: 79,852,854 M264V probably damaging Het
Ccdc141 C T 2: 77,029,235 probably null Het
Dtx4 T C 19: 12,486,500 probably benign Het
F5 T A 1: 164,193,538 I1194N probably benign Het
Gadl1 C T 9: 115,948,664 T126M probably damaging Het
Gcnt7 A T 2: 172,454,411 C110* probably null Het
H2-M9 C T 17: 36,640,822 V254M possibly damaging Het
Hadha A T 5: 30,134,186 Het
Kit T C 5: 75,641,188 M621T probably benign Het
Krt73 T C 15: 101,795,840 M422V probably benign Het
Neil2 T C 14: 63,191,808 H12R probably benign Het
Nrsn1 A G 13: 25,253,717 L76P probably damaging Het
Olfr1393 T G 11: 49,280,772 V208G possibly damaging Het
Olfr906 C A 9: 38,488,586 Q186K probably benign Het
Olfr924 T A 9: 38,848,209 Y32N probably damaging Het
Pot1a G A 6: 25,794,616 A23V probably benign Het
Ppp1r14d A G 2: 119,218,360 *147Q probably null Het
Ptger2 T C 14: 45,002,005 probably benign Het
Syne3 A T 12: 104,943,428 D716E probably benign Het
Tbc1d9 A G 8: 83,249,473 N554D probably damaging Het
Ushbp1 T A 8: 71,394,376 Q204L possibly damaging Het
Other mutations in Dyrk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02474:Dyrk4 APN 6 126880231 missense probably damaging 1.00
IGL02598:Dyrk4 APN 6 126884019
IGL02697:Dyrk4 APN 6 126899008 missense possibly damaging 0.88
IGL03229:Dyrk4 APN 6 126886642
IGL03248:Dyrk4 APN 6 126884053 missense probably benign 0.05
R0597:Dyrk4 UTSW 6 126886649 splice site probably null
R0862:Dyrk4 UTSW 6 126877333 missense possibly damaging 0.78
R0864:Dyrk4 UTSW 6 126877333 missense possibly damaging 0.78
R1470:Dyrk4 UTSW 6 126916374 nonsense probably null
R1470:Dyrk4 UTSW 6 126916374 nonsense probably null
R1645:Dyrk4 UTSW 6 126894793 nonsense probably null
R1650:Dyrk4 UTSW 6 126899829 missense probably benign 0.28
R1885:Dyrk4 UTSW 6 126877181 missense probably benign 0.15
R3947:Dyrk4 UTSW 6 126885305 missense probably damaging 1.00
R3948:Dyrk4 UTSW 6 126885305 missense probably damaging 1.00
R3949:Dyrk4 UTSW 6 126885305 missense probably damaging 1.00
R4794:Dyrk4 UTSW 6 126885337 missense possibly damaging 0.79
R5991:Dyrk4 UTSW 6 126880225 missense probably benign 0.44
R6143:Dyrk4 UTSW 6 126886651 critical splice donor site probably null
R6269:Dyrk4 UTSW 6 126886727 missense probably damaging 1.00
R6572:Dyrk4 UTSW 6 126897238 missense probably benign
R6598:Dyrk4 UTSW 6 126876326 missense probably benign 0.20
R6703:Dyrk4 UTSW 6 126890082 missense probably damaging 1.00
R6750:Dyrk4 UTSW 6 126898955 missense probably benign 0.00
Posted On2016-08-02