Incidental Mutation 'R6901:Dyrk1b'
ID 538527
Institutional Source Beutler Lab
Gene Symbol Dyrk1b
Ensembl Gene ENSMUSG00000002409
Gene Name dual-specificity tyrosine phosphorylation regulated kinase 1b
Synonyms Mirk
MMRRC Submission 044995-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6901 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 27878894-27886719 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 27884542 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 346 (L346Q)
Ref Sequence ENSEMBL: ENSMUSP00000133431 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085901] [ENSMUST00000172467] [ENSMUST00000172761]
AlphaFold Q9Z188
Predicted Effect probably damaging
Transcript: ENSMUST00000085901
AA Change: L286Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083064
Gene: ENSMUSG00000002409
AA Change: L286Q

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: ENSMUST00000172467
AA Change: L346Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133431
Gene: ENSMUSG00000002409
AA Change: L346Q

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: L286Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133719
Gene: ENSMUSG00000002409
AA Change: L286Q

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.9%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd5 T A 9: 122,197,220 (GRCm39) S136T probably benign Het
Anxa10 T C 8: 62,549,816 (GRCm39) T10A probably damaging Het
Ap3b1 A G 13: 94,554,650 (GRCm39) E262G probably benign Het
Ap3b2 T C 7: 81,134,660 (GRCm39) probably null Het
Arhgef40 A G 14: 52,234,825 (GRCm39) T1043A probably damaging Het
Arhgef5 T A 6: 43,250,232 (GRCm39) S328T probably benign Het
Arid4a A G 12: 71,113,911 (GRCm39) K166R probably damaging Het
Cdh12 A G 15: 21,583,872 (GRCm39) I571V probably benign Het
Cdh4 G A 2: 179,501,987 (GRCm39) V316I probably benign Het
Cebpg A T 7: 34,750,202 (GRCm39) H20Q probably benign Het
Ces4a G A 8: 105,873,330 (GRCm39) V392I probably benign Het
CN725425 C A 15: 91,124,966 (GRCm39) P169T possibly damaging Het
Cyp2c54 A G 19: 40,058,703 (GRCm39) F243S probably damaging Het
Dkk2 T A 3: 131,880,887 (GRCm39) probably null Het
Dync2h1 A G 9: 7,131,855 (GRCm39) Y1651H probably damaging Het
Ephx4 T C 5: 107,561,427 (GRCm39) V85A probably benign Het
Etv6 A G 6: 134,243,421 (GRCm39) E392G probably benign Het
Fli1 T A 9: 32,341,221 (GRCm39) N202I probably benign Het
Gpc6 G T 14: 118,188,629 (GRCm39) R421L possibly damaging Het
Gse1 A G 8: 120,956,561 (GRCm39) probably benign Het
Hdac1-ps A G 17: 78,800,089 (GRCm39) E360G probably benign Het
Hnrnpab T C 11: 51,492,675 (GRCm39) probably benign Het
Hyal4 A G 6: 24,756,190 (GRCm39) E136G probably damaging Het
Ift56 G A 6: 38,378,079 (GRCm39) R297H possibly damaging Het
Kcna3 C T 3: 106,943,884 (GRCm39) A49V probably benign Het
Krt42 C T 11: 100,160,542 (GRCm39) M52I probably benign Het
Lyrm4 A T 13: 36,301,107 (GRCm39) Y13N probably damaging Het
Map2 C T 1: 66,460,932 (GRCm39) S1576L possibly damaging Het
Map3k12 G T 15: 102,409,065 (GRCm39) P817T possibly damaging Het
Map3k12 G T 15: 102,409,064 (GRCm39) P817Q possibly damaging Het
Masp1 T C 16: 23,332,584 (GRCm39) K84E probably damaging Het
Mki67 A T 7: 135,310,489 (GRCm39) probably null Het
Mrap C G 16: 90,546,193 (GRCm39) S94C probably damaging Het
Mybpc2 C A 7: 44,154,779 (GRCm39) C986F probably damaging Het
Nbea A C 3: 55,926,836 (GRCm39) M789R probably damaging Het
Or2ag1b T C 7: 106,288,396 (GRCm39) I181V probably benign Het
Or6b2 G T 1: 92,408,327 (GRCm39) N5K probably damaging Het
Pde4a A G 9: 21,116,266 (GRCm39) N475S probably benign Het
Pex7 C T 10: 19,736,740 (GRCm39) V297I probably benign Het
Pkd1l3 A T 8: 110,341,246 (GRCm39) H33L unknown Het
Prl8a6 A T 13: 27,621,030 (GRCm39) Y67N possibly damaging Het
Rcor1 A T 12: 111,075,322 (GRCm39) E383V probably damaging Het
Slc22a27 A T 19: 7,903,944 (GRCm39) S64R probably damaging Het
Snx7 G A 3: 117,623,285 (GRCm39) Q292* probably null Het
Tgm3 C T 2: 129,883,890 (GRCm39) T516M possibly damaging Het
Trim9 T C 12: 70,393,413 (GRCm39) E177G probably damaging Het
Ttc28 C A 5: 111,424,891 (GRCm39) T1541N possibly damaging Het
Ttc8 T A 12: 98,927,735 (GRCm39) L202H probably damaging Het
Ttll13 T C 7: 79,899,930 (GRCm39) Y90H probably damaging Het
Uba1y T G Y: 825,496 (GRCm39) I286S probably benign Het
Ubxn11 G A 4: 133,853,575 (GRCm39) A125T probably damaging Het
Vmn1r48 A G 6: 90,013,550 (GRCm39) Y92H possibly damaging Het
Vmn1r74 T C 7: 11,581,368 (GRCm39) F223L probably benign Het
Vwa5b1 G A 4: 138,313,880 (GRCm39) T696I probably benign Het
Zfp266 G T 9: 20,410,895 (GRCm39) Y427* probably null Het
Zfp362 C T 4: 128,679,808 (GRCm39) C273Y probably damaging Het
Zfp385c T C 11: 100,523,585 (GRCm39) N123S probably benign Het
Zfp936 T A 7: 42,839,467 (GRCm39) H311Q probably damaging Het
Other mutations in Dyrk1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01483:Dyrk1b APN 7 27,882,101 (GRCm39) missense probably damaging 0.96
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
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
Predicted Primers PCR Primer
(F):5'- TCATGGGCAGGACAGTGTTG -3'
(R):5'- CTCCACAATACGGCTCATCTGG -3'

Sequencing Primer
(F):5'- CAGGACAGTGTTGGTGGC -3'
(R):5'- AATACGGCTCATCTGGTCCAC -3'
Posted On 2018-11-06