Incidental Mutation 'R3917:Cdk11b'
ID 307330
Institutional Source Beutler Lab
Gene Symbol Cdk11b
Ensembl Gene ENSMUSG00000029062
Gene Name cyclin dependent kinase 11B
Synonyms Cdc2l2, PITSLRE proteins, Cdc2l1, CDK11-p110, CDK11-p46, CDK11-p58
MMRRC Submission 040914-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3917 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 155709311-155734395 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 155711258 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 47 (S47P)
Ref Sequence ENSEMBL: ENSMUSP00000101225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067081] [ENSMUST00000105598] [ENSMUST00000105600] [ENSMUST00000105608] [ENSMUST00000115821]
AlphaFold P24788
Predicted Effect probably damaging
Transcript: ENSMUST00000067081
AA Change: S47P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000070527
Gene: ENSMUSG00000029062
AA Change: S47P

DomainStartEndE-ValueType
low complexity region 19 48 N/A INTRINSIC
low complexity region 93 112 N/A INTRINSIC
coiled coil region 123 214 N/A INTRINSIC
low complexity region 252 259 N/A INTRINSIC
low complexity region 261 272 N/A INTRINSIC
coiled coil region 290 337 N/A INTRINSIC
low complexity region 369 383 N/A INTRINSIC
S_TKc 427 712 5.05e-93 SMART
Predicted Effect unknown
Transcript: ENSMUST00000105598
AA Change: S13P
SMART Domains Protein: ENSMUSP00000101223
Gene: ENSMUSG00000029062
AA Change: S13P

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
low complexity region 59 78 N/A INTRINSIC
coiled coil region 89 180 N/A INTRINSIC
low complexity region 218 225 N/A INTRINSIC
low complexity region 227 238 N/A INTRINSIC
coiled coil region 256 303 N/A INTRINSIC
low complexity region 335 349 N/A INTRINSIC
S_TKc 393 678 5.05e-93 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000105600
AA Change: S47P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101225
Gene: ENSMUSG00000029062
AA Change: S47P

DomainStartEndE-ValueType
low complexity region 19 48 N/A INTRINSIC
low complexity region 93 112 N/A INTRINSIC
coiled coil region 123 214 N/A INTRINSIC
low complexity region 252 259 N/A INTRINSIC
low complexity region 261 272 N/A INTRINSIC
coiled coil region 290 337 N/A INTRINSIC
low complexity region 369 383 N/A INTRINSIC
S_TKc 427 712 5.05e-93 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105608
SMART Domains Protein: ENSMUSP00000101233
Gene: ENSMUSG00000042202

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
low complexity region 50 66 N/A INTRINSIC
Pfam:UAA 75 375 6.9e-10 PFAM
Pfam:EamA 84 215 5.8e-8 PFAM
Pfam:TPT 224 369 3.8e-34 PFAM
Pfam:EamA 237 369 3.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115821
SMART Domains Protein: ENSMUSP00000111488
Gene: ENSMUSG00000073682

DomainStartEndE-ValueType
SCOP:d1l9ha_ 17 52 2e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135550
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149498
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154931
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137752
Meta Mutation Damage Score 0.1363 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 97% (74/76)
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 serine/threonine protein kinase family. Members of this kinase family are known to be essential for eukaryotic cell cycle control. Due to a segmental duplication, this gene shares very high sequence identity with a neighboring gene. These two genes are frequently deleted or altered in neuroblastoma. The protein kinase encoded by this gene can be cleaved by caspases and may play a role in cell apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous null embryos display embryonic lethality from cell cycle arrest. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad12 A G 5: 121,737,277 (GRCm39) V498A probably damaging Het
Adam19 A G 11: 45,951,762 (GRCm39) E37G probably benign Het
Apol11b A G 15: 77,519,504 (GRCm39) I192T probably benign Het
Appl1 A T 14: 26,650,561 (GRCm39) F537Y probably damaging Het
Atad5 A C 11: 79,994,120 (GRCm39) K785N probably null Het
Atp1b2 A G 11: 69,493,901 (GRCm39) V93A probably damaging Het
Bcam T C 7: 19,499,375 (GRCm39) Y216C probably damaging Het
Brca2 A G 5: 150,464,292 (GRCm39) E1352G probably damaging Het
C030005K15Rik A C 10: 97,561,453 (GRCm39) S93A unknown Het
Cadps C T 14: 12,457,702 (GRCm38) A1060T probably benign Het
Ccdc88c A G 12: 100,907,366 (GRCm39) probably null Het
Ccdc89 A G 7: 90,076,033 (GRCm39) D81G probably damaging Het
Ccnt1 A G 15: 98,441,940 (GRCm39) S443P probably benign Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cdc42bpa T C 1: 179,933,719 (GRCm39) probably null Het
Cfap43 T C 19: 47,886,189 (GRCm39) D142G probably benign Het
Cntnap4 C G 8: 113,602,165 (GRCm39) P1190A probably benign Het
Colgalt2 T A 1: 152,384,362 (GRCm39) Y567* probably null Het
Dner CGCTGCTGCTGCTGCTGCTGCTGCTGC CGCTGCTGCTGCTGCTGCTGCTGC 1: 84,563,270 (GRCm39) probably benign Het
Dock7 T C 4: 98,904,922 (GRCm39) Y651C probably damaging Het
Fzd3 A T 14: 65,473,379 (GRCm39) F130I probably damaging Het
Gabarapl2 T A 8: 112,679,028 (GRCm39) F115L probably benign Het
Gm1043 G A 5: 37,350,285 (GRCm39) probably benign Het
Gm12185 A G 11: 48,806,760 (GRCm39) F144L probably benign Het
Gm21961 A T 15: 64,886,733 (GRCm39) D7E unknown Het
Gtf3a A G 5: 146,892,244 (GRCm39) K332E probably benign Het
Haao A G 17: 84,146,228 (GRCm39) probably null Het
Habp2 T A 19: 56,299,611 (GRCm39) C170S probably damaging Het
Heatr3 T G 8: 88,876,999 (GRCm39) probably null Het
Herc1 T G 9: 66,341,748 (GRCm39) C1846G possibly damaging Het
Hivep3 T C 4: 119,956,624 (GRCm39) S1647P probably benign Het
Hnrnpul1 C T 7: 25,426,300 (GRCm39) R517Q probably damaging Het
Hspg2 A G 4: 137,286,625 (GRCm39) E3648G probably damaging Het
Jaml T C 9: 45,012,449 (GRCm39) probably benign Het
Jund C T 8: 71,151,673 (GRCm39) probably benign Het
Klra14-ps T C 6: 130,134,595 (GRCm39) noncoding transcript Het
Krt88 G A 15: 101,350,809 (GRCm39) probably null Het
Lrp5 G A 19: 3,662,330 (GRCm39) R173C probably damaging Het
Lyzl4 T A 9: 121,412,101 (GRCm39) D105V probably damaging Het
Mst1 A G 9: 107,961,494 (GRCm39) I575V probably benign Het
Myd88 T C 9: 119,170,464 (GRCm39) probably benign Het
Myo1d A T 11: 80,557,404 (GRCm39) V512E probably damaging Het
Ndufv1 A G 19: 4,060,002 (GRCm39) Y33H probably damaging Het
Nwd1 T A 8: 73,394,439 (GRCm39) C608* probably null Het
Or10al2 T A 17: 37,983,684 (GRCm39) F257I probably damaging Het
Or8b37 A T 9: 37,958,841 (GRCm39) I108F probably damaging Het
Patj A T 4: 98,480,245 (GRCm39) K1317* probably null Het
Pld5 A G 1: 175,791,504 (GRCm39) S501P probably benign Het
Pnpo A G 11: 96,830,583 (GRCm39) V146A probably damaging Het
Ppdpf A G 2: 180,829,521 (GRCm39) Y16C probably benign Het
Ppp1r27 A G 11: 120,441,785 (GRCm39) V32A possibly damaging Het
Rbm28 T C 6: 29,154,788 (GRCm39) D294G probably benign Het
Sdk1 T A 5: 142,036,999 (GRCm39) D817E probably damaging Het
Shank3 A G 15: 89,387,587 (GRCm39) D252G possibly damaging Het
Slc29a1 A T 17: 45,899,899 (GRCm39) probably null Het
Slc35a5 G C 16: 44,978,521 (GRCm39) probably benign Het
Slc6a5 T C 7: 49,561,617 (GRCm39) S50P probably damaging Het
Slfn8 A T 11: 82,907,819 (GRCm39) Y241* probably null Het
Slu7 G T 11: 43,331,511 (GRCm39) probably null Het
Smad2 T A 18: 76,421,008 (GRCm39) D82E probably benign Het
Spx A C 6: 142,359,757 (GRCm39) E33A probably damaging Het
Tdp1 A G 12: 99,860,976 (GRCm39) Y205C probably damaging Het
Tekt1 A G 11: 72,236,574 (GRCm39) I296T possibly damaging Het
Tgm1 G A 14: 55,950,214 (GRCm39) probably benign Het
Tnks A G 8: 35,320,515 (GRCm39) S719P probably damaging Het
Trip6 A G 5: 137,311,941 (GRCm39) C47R probably benign Het
Trpv3 A G 11: 73,174,560 (GRCm39) D309G possibly damaging Het
Tti2 A G 8: 31,643,547 (GRCm39) K221E possibly damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vmn1r57 A T 7: 5,223,630 (GRCm39) N52Y probably damaging Het
Vmn2r94 A G 17: 18,464,620 (GRCm39) F557L probably benign Het
Zbed5 T C 5: 129,931,118 (GRCm39) Y356H possibly damaging Het
Zfp1005 T A 2: 150,108,039 (GRCm39) probably benign Het
Zic4 C A 9: 91,266,394 (GRCm39) probably benign Het
Other mutations in Cdk11b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01764:Cdk11b APN 4 155,713,260 (GRCm39) missense possibly damaging 0.54
R0071:Cdk11b UTSW 4 155,733,880 (GRCm39) unclassified probably benign
R0071:Cdk11b UTSW 4 155,733,880 (GRCm39) unclassified probably benign
R0145:Cdk11b UTSW 4 155,726,076 (GRCm39) intron probably benign
R0372:Cdk11b UTSW 4 155,725,957 (GRCm39) intron probably benign
R0426:Cdk11b UTSW 4 155,726,969 (GRCm39) intron probably benign
R0471:Cdk11b UTSW 4 155,731,999 (GRCm39) unclassified probably benign
R0627:Cdk11b UTSW 4 155,725,229 (GRCm39) intron probably benign
R1475:Cdk11b UTSW 4 155,718,674 (GRCm39) missense probably damaging 1.00
R1611:Cdk11b UTSW 4 155,726,032 (GRCm39) intron probably benign
R1719:Cdk11b UTSW 4 155,732,854 (GRCm39) unclassified probably benign
R1750:Cdk11b UTSW 4 155,713,137 (GRCm39) splice site probably null
R2061:Cdk11b UTSW 4 155,726,061 (GRCm39) intron probably benign
R2274:Cdk11b UTSW 4 155,732,051 (GRCm39) unclassified probably benign
R2922:Cdk11b UTSW 4 155,725,201 (GRCm39) intron probably benign
R3719:Cdk11b UTSW 4 155,711,343 (GRCm39) missense probably damaging 1.00
R4077:Cdk11b UTSW 4 155,724,204 (GRCm39) intron probably benign
R4078:Cdk11b UTSW 4 155,724,204 (GRCm39) intron probably benign
R5033:Cdk11b UTSW 4 155,733,282 (GRCm39) unclassified probably benign
R5212:Cdk11b UTSW 4 155,723,072 (GRCm39) splice site probably null
R5556:Cdk11b UTSW 4 155,718,604 (GRCm39) nonsense probably null
R5622:Cdk11b UTSW 4 155,714,674 (GRCm39) missense probably damaging 1.00
R5927:Cdk11b UTSW 4 155,732,697 (GRCm39) unclassified probably benign
R5975:Cdk11b UTSW 4 155,732,697 (GRCm39) unclassified probably benign
R6276:Cdk11b UTSW 4 155,718,647 (GRCm39) missense probably benign 0.11
R6278:Cdk11b UTSW 4 155,734,060 (GRCm39) unclassified probably benign
R6905:Cdk11b UTSW 4 155,726,065 (GRCm39) intron probably benign
R6998:Cdk11b UTSW 4 155,732,800 (GRCm39) nonsense probably null
R7021:Cdk11b UTSW 4 155,726,024 (GRCm39) intron probably benign
R7062:Cdk11b UTSW 4 155,711,268 (GRCm39) missense probably damaging 1.00
R7100:Cdk11b UTSW 4 155,710,050 (GRCm39) missense probably damaging 1.00
R7338:Cdk11b UTSW 4 155,732,008 (GRCm39) missense unknown
R7811:Cdk11b UTSW 4 155,724,359 (GRCm39) missense unknown
R8213:Cdk11b UTSW 4 155,724,338 (GRCm39) missense unknown
R8257:Cdk11b UTSW 4 155,732,398 (GRCm39) missense unknown
R8696:Cdk11b UTSW 4 155,732,779 (GRCm39) missense unknown
R9419:Cdk11b UTSW 4 155,724,302 (GRCm39) missense unknown
R9546:Cdk11b UTSW 4 155,733,589 (GRCm39) missense unknown
R9628:Cdk11b UTSW 4 155,734,154 (GRCm39) missense unknown
R9792:Cdk11b UTSW 4 155,732,378 (GRCm39) missense unknown
R9793:Cdk11b UTSW 4 155,732,378 (GRCm39) missense unknown
Z1088:Cdk11b UTSW 4 155,726,021 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- AGCATTTTGAAGACGGAGGC -3'
(R):5'- CTGTGGATAAAGTAACACCCACG -3'

Sequencing Primer
(F):5'- GGCAGGTTTCTAGCTCAAAAACCG -3'
(R):5'- ACAATTCTGTATTGGGATGCATTC -3'
Posted On 2015-04-17