Incidental Mutation 'IGL01764:Cdk11b'
ID153632
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdk11b
Ensembl Gene ENSMUSG00000029062
Gene Namecyclin-dependent kinase 11B
SynonymsPITSLRE proteins, CDK11-p110, Cdc2l1, Cdc2l2, CDK11-p46, CDK11-p58
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01764
Quality Score
Status
Chromosome4
Chromosomal Location155624854-155649938 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 155628803 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 112 (R112H)
Ref Sequence ENSEMBL: ENSMUSP00000101225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067081] [ENSMUST00000105598] [ENSMUST00000105600] [ENSMUST00000115821]
Predicted Effect possibly damaging
Transcript: ENSMUST00000067081
AA Change: R112H

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000070527
Gene: ENSMUSG00000029062
AA Change: R112H

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: ENSMUST00000105598
AA Change: R78H

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000101223
Gene: ENSMUSG00000029062
AA Change: R78H

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 possibly damaging
Transcript: ENSMUST00000105600
AA Change: R112H

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000101225
Gene: ENSMUSG00000029062
AA Change: R112H

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: 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: ENSMUST00000137752
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149498
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154931
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 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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A T 10: 87,074,046 M1L probably benign Het
BC025920 T A 10: 81,609,150 Y36N probably damaging Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
Ctu2 G A 8: 122,479,422 probably benign Het
Ddx56 A C 11: 6,265,692 V219G probably null Het
Dnah14 T C 1: 181,744,777 V2891A probably benign Het
Fbn2 G T 18: 58,045,351 N1938K probably damaging Het
Fbxw20 A G 9: 109,223,359 M302T possibly damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gm10639 A T 9: 78,304,507 probably null Het
Gpat2 T C 2: 127,427,536 I36T probably benign Het
Hmcn2 A G 2: 31,405,630 E2617G possibly damaging Het
Krba1 C T 6: 48,415,836 R895W probably benign Het
Large2 G T 2: 92,367,186 probably benign Het
Lrp1b C T 2: 40,697,442 V165M unknown Het
Mapk1 T A 16: 16,983,733 M36K possibly damaging Het
Nf1 A G 11: 79,384,187 T25A probably benign Het
Nrxn3 G A 12: 90,204,750 V1316I possibly damaging Het
Pik3r4 G A 9: 105,685,122 probably benign Het
Plekhh1 G T 12: 79,054,905 A250S probably benign Het
Polr3g G A 13: 81,682,119 T145M possibly damaging Het
Prss32 A G 17: 23,856,111 D145G probably damaging Het
Rab11fip3 T C 17: 26,068,693 K162R probably benign Het
Spag7 A G 11: 70,664,107 probably benign Het
Spata2l T A 8: 123,234,175 Q125L probably benign Het
Tlr9 G T 9: 106,225,805 C765F probably damaging Het
Trip11 A T 12: 101,884,631 I773N probably damaging Het
Vcan T G 13: 89,725,388 T116P probably damaging Het
Vmn2r22 C T 6: 123,650,420 probably null Het
Yme1l1 T C 2: 23,162,544 I70T probably benign Het
Zfp938 T A 10: 82,227,790 probably benign Het
Other mutations in Cdk11b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0071:Cdk11b UTSW 4 155649423 unclassified probably benign
R0071:Cdk11b UTSW 4 155649423 unclassified probably benign
R0145:Cdk11b UTSW 4 155641619 intron probably benign
R0372:Cdk11b UTSW 4 155641500 intron probably benign
R0426:Cdk11b UTSW 4 155642512 intron probably benign
R0471:Cdk11b UTSW 4 155647542 unclassified probably benign
R0627:Cdk11b UTSW 4 155640772 intron probably benign
R1475:Cdk11b UTSW 4 155634217 missense probably damaging 1.00
R1611:Cdk11b UTSW 4 155641575 intron probably benign
R1719:Cdk11b UTSW 4 155648397 unclassified probably benign
R1750:Cdk11b UTSW 4 155628680 intron probably null
R2061:Cdk11b UTSW 4 155641604 intron probably benign
R2274:Cdk11b UTSW 4 155647594 unclassified probably benign
R2922:Cdk11b UTSW 4 155640744 intron probably benign
R3719:Cdk11b UTSW 4 155626886 missense probably damaging 1.00
R3917:Cdk11b UTSW 4 155626801 missense probably damaging 1.00
R4077:Cdk11b UTSW 4 155639747 intron probably benign
R4078:Cdk11b UTSW 4 155639747 intron probably benign
R5033:Cdk11b UTSW 4 155648825 unclassified probably benign
R5212:Cdk11b UTSW 4 155638615 intron probably null
R5556:Cdk11b UTSW 4 155634147 nonsense probably null
R5622:Cdk11b UTSW 4 155630217 missense probably damaging 1.00
R5927:Cdk11b UTSW 4 155648240 unclassified probably benign
R5975:Cdk11b UTSW 4 155648240 unclassified probably benign
R6276:Cdk11b UTSW 4 155634190 missense probably benign 0.11
R6278:Cdk11b UTSW 4 155649603 unclassified probably benign
R6905:Cdk11b UTSW 4 155641608 intron probably benign
R6998:Cdk11b UTSW 4 155648343 nonsense probably null
R7021:Cdk11b UTSW 4 155641567 intron probably benign
R7062:Cdk11b UTSW 4 155626811 missense probably damaging 1.00
R7100:Cdk11b UTSW 4 155625593 missense probably damaging 1.00
R7338:Cdk11b UTSW 4 155647551 missense unknown
R7811:Cdk11b UTSW 4 155639902 missense unknown
Z1088:Cdk11b UTSW 4 155641564 intron probably benign
Posted On2014-02-04