Incidental Mutation 'IGL01483:Dyrk1b'
ID 88693
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dyrk1b
Ensembl Gene ENSMUSG00000002409
Gene Name dual-specificity tyrosine phosphorylation regulated kinase 1b
Synonyms Mirk
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01483
Quality Score
Status
Chromosome 7
Chromosomal Location 27878894-27886719 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 27882101 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 94 (D94G)
Ref Sequence ENSEMBL: ENSMUSP00000133719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042405] [ENSMUST00000085901] [ENSMUST00000172467] [ENSMUST00000172761]
AlphaFold Q9Z188
Predicted Effect probably benign
Transcript: ENSMUST00000042405
SMART Domains Protein: ENSMUSP00000037613
Gene: ENSMUSG00000046865

DomainStartEndE-ValueType
low complexity region 8 85 N/A INTRINSIC
Fibrillarin 94 321 9.92e-176 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000085901
AA Change: D94G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000083064
Gene: ENSMUSG00000002409
AA Change: D94G

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
low complexity region 22 41 N/A INTRINSIC
S_TKc 111 431 3.75e-78 SMART
low complexity region 438 454 N/A INTRINSIC
low complexity region 460 477 N/A INTRINSIC
low complexity region 542 561 N/A INTRINSIC
low complexity region 571 591 N/A INTRINSIC
low complexity region 597 615 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000172467
AA Change: D154G

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133431
Gene: ENSMUSG00000002409
AA Change: D154G

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
low complexity region 22 41 N/A INTRINSIC
S_TKc 111 431 3.75e-78 SMART
low complexity region 438 454 N/A INTRINSIC
low complexity region 460 477 N/A INTRINSIC
low complexity region 542 561 N/A INTRINSIC
low complexity region 571 591 N/A INTRINSIC
low complexity region 597 615 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000172761
AA Change: D94G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133719
Gene: ENSMUSG00000002409
AA Change: D94G

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
low complexity region 22 41 N/A INTRINSIC
S_TKc 111 391 1.52e-78 SMART
low complexity region 398 414 N/A INTRINSIC
low complexity region 420 437 N/A INTRINSIC
low complexity region 502 521 N/A INTRINSIC
low complexity region 531 551 N/A INTRINSIC
low complexity region 557 575 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208259
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 a family of nuclear-localized protein kinases. The encoded protein participates in the regulation of the cell cycle. Expression of this gene may be altered in tumor cells, and mutations in this gene were found to cause abdominal obesity-metabolic syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008E08Rik G T 16: 90,351,201 (GRCm39) noncoding transcript Het
Abcb4 T C 5: 8,977,871 (GRCm39) I483T probably damaging Het
Ank3 A T 10: 69,710,639 (GRCm39) H388L probably damaging Het
Arhgap24 T C 5: 103,008,243 (GRCm39) Y52H possibly damaging Het
Atf7ip A G 6: 136,564,457 (GRCm39) N900S probably damaging Het
Bmp10 A T 6: 87,410,933 (GRCm39) D242V probably damaging Het
Ceacam12 A G 7: 17,801,446 (GRCm39) R142G probably benign Het
Cilp2 T A 8: 70,335,496 (GRCm39) I501F probably damaging Het
Cplane1 T G 15: 8,216,591 (GRCm39) I603S probably damaging Het
Dglucy T C 12: 100,819,476 (GRCm39) V426A probably damaging Het
Efcab3 T C 11: 104,630,173 (GRCm39) V968A probably benign Het
Erbb2 C T 11: 98,325,365 (GRCm39) R898C probably damaging Het
Fbxo7 T C 10: 85,880,445 (GRCm39) Y298H probably damaging Het
Gcg T C 2: 62,310,827 (GRCm39) D25G possibly damaging Het
Helb A G 10: 119,947,043 (GRCm39) V90A probably damaging Het
Krt40 T A 11: 99,433,553 (GRCm39) E144D probably damaging Het
Lpo G A 11: 87,711,964 (GRCm39) T31I probably benign Het
Mc5r A G 18: 68,472,315 (GRCm39) I225V probably damaging Het
Mccc1 A G 3: 36,044,009 (GRCm39) F245L probably damaging Het
Mindy4 A G 6: 55,193,670 (GRCm39) D121G probably damaging Het
Nap1l4 A T 7: 143,081,053 (GRCm39) probably null Het
Noc4l T A 5: 110,796,824 (GRCm39) K486M probably damaging Het
Notum T C 11: 120,547,482 (GRCm39) D271G probably damaging Het
Pan3 T A 5: 147,466,783 (GRCm39) L550Q probably benign Het
Pde4dip A G 3: 97,661,465 (GRCm39) S594P probably damaging Het
Pramel12 A T 4: 143,144,047 (GRCm39) E131V probably damaging Het
Prr23a1 T G 9: 98,725,369 (GRCm39) S244A probably benign Het
Rarb T C 14: 16,432,273 (GRCm38) probably benign Het
Sh3d19 A G 3: 86,022,103 (GRCm39) D511G probably benign Het
Slco6c1 T C 1: 97,055,832 (GRCm39) N23S probably benign Het
Smarcc1 G T 9: 110,051,128 (GRCm39) G983* probably null Het
Tbc1d22a A T 15: 86,275,404 (GRCm39) Q442L probably benign Het
Tuba1b A G 15: 98,830,338 (GRCm39) Y161H possibly damaging Het
Zdhhc14 G A 17: 5,762,733 (GRCm39) M212I probably benign Het
Other mutations in Dyrk1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01820:Dyrk1b APN 7 27,881,025 (GRCm39) utr 5 prime probably benign
IGL03155:Dyrk1b APN 7 27,882,112 (GRCm39) missense probably benign 0.25
R0280:Dyrk1b UTSW 7 27,883,737 (GRCm39) missense probably damaging 1.00
R0323:Dyrk1b UTSW 7 27,884,781 (GRCm39) missense probably benign 0.00
R0610:Dyrk1b UTSW 7 27,886,059 (GRCm39) missense probably damaging 0.99
R0765:Dyrk1b UTSW 7 27,885,136 (GRCm39) intron probably benign
R1858:Dyrk1b UTSW 7 27,882,071 (GRCm39) splice site probably null
R2354:Dyrk1b UTSW 7 27,884,797 (GRCm39) missense possibly damaging 0.79
R4599:Dyrk1b UTSW 7 27,881,856 (GRCm39) missense probably damaging 1.00
R4655:Dyrk1b UTSW 7 27,885,176 (GRCm39) missense probably damaging 0.97
R5201:Dyrk1b UTSW 7 27,884,521 (GRCm39) missense probably damaging 1.00
R5357:Dyrk1b UTSW 7 27,884,743 (GRCm39) missense possibly damaging 0.79
R5560:Dyrk1b UTSW 7 27,883,678 (GRCm39) missense possibly damaging 0.53
R6171:Dyrk1b UTSW 7 27,885,975 (GRCm39) critical splice acceptor site probably null
R6751:Dyrk1b UTSW 7 27,886,134 (GRCm39) missense probably damaging 1.00
R6901:Dyrk1b UTSW 7 27,884,542 (GRCm39) missense probably damaging 1.00
R6918:Dyrk1b UTSW 7 27,885,350 (GRCm39) missense probably damaging 0.99
R7699:Dyrk1b UTSW 7 27,883,737 (GRCm39) missense probably damaging 1.00
R7700:Dyrk1b UTSW 7 27,883,737 (GRCm39) missense probably damaging 1.00
R8177:Dyrk1b UTSW 7 27,882,601 (GRCm39) missense possibly damaging 0.86
R8271:Dyrk1b UTSW 7 27,882,080 (GRCm39) missense probably benign 0.02
R9241:Dyrk1b UTSW 7 27,886,058 (GRCm39) missense probably benign 0.00
R9582:Dyrk1b UTSW 7 27,882,028 (GRCm39) missense probably damaging 0.99
R9644:Dyrk1b UTSW 7 27,881,790 (GRCm39) missense probably damaging 0.99
R9701:Dyrk1b UTSW 7 27,885,838 (GRCm39) missense probably damaging 1.00
X0060:Dyrk1b UTSW 7 27,882,575 (GRCm39) missense probably damaging 0.98
Posted On 2013-11-18