Incidental Mutation 'R6276:Cdk11b'
ID 507627
Institutional Source Beutler Lab
Gene Symbol Cdk11b
Ensembl Gene ENSMUSG00000029062
Gene Name cyclin-dependent kinase 11B
Synonyms PITSLRE proteins, CDK11-p110, Cdc2l1, Cdc2l2, CDK11-p46, CDK11-p58
MMRRC Submission 044446-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6276 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 155624854-155649938 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 155634190 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 199 (E199G)
Ref Sequence ENSEMBL: ENSMUSP00000101225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067081] [ENSMUST00000105598] [ENSMUST00000105600] [ENSMUST00000115821]
AlphaFold P24788
Predicted Effect probably benign
Transcript: ENSMUST00000067081
AA Change: E199G

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000070527
Gene: ENSMUSG00000029062
AA Change: E199G

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: E165G

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000101223
Gene: ENSMUSG00000029062
AA Change: E165G

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 benign
Transcript: ENSMUST00000105600
AA Change: E199G

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000101225
Gene: ENSMUSG00000029062
AA Change: E199G

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: ENSMUST00000142513
Meta Mutation Damage Score 0.0953 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.5%
Validation Efficiency 100% (71/71)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930504O13Rik T A 11: 58,446,366 (GRCm38) I94L possibly damaging Het
4931406P16Rik A T 7: 34,242,377 (GRCm38) Y627* probably null Het
Actr3 A T 1: 125,395,137 (GRCm38) D364E probably benign Het
Adra2c C T 5: 35,280,079 (GRCm38) T65I probably damaging Het
Agap2 T A 10: 127,089,360 (GRCm38) probably null Het
Ager T C 17: 34,598,754 (GRCm38) V126A possibly damaging Het
Arhgap39 T C 15: 76,737,536 (GRCm38) I288M probably benign Het
Arhgap45 A T 10: 80,026,234 (GRCm38) S541C probably benign Het
Asb4 A G 6: 5,431,043 (GRCm38) Y426C probably damaging Het
Azi2 C T 9: 118,049,338 (GRCm38) T82I probably damaging Het
Baz2b T A 2: 59,948,223 (GRCm38) R764S probably damaging Het
Ccdc146 A C 5: 21,301,340 (GRCm38) I701S probably damaging Het
Cd55b T A 1: 130,418,166 (GRCm38) I172F probably damaging Het
Cntnap4 A T 8: 112,752,289 (GRCm38) T216S possibly damaging Het
D5Ertd579e A T 5: 36,604,514 (GRCm38) N1336K possibly damaging Het
Dlg5 T C 14: 24,164,568 (GRCm38) N649S probably damaging Het
Dmxl1 A G 18: 49,846,586 (GRCm38) E96G probably benign Het
Dscaml1 C T 9: 45,668,160 (GRCm38) T335I possibly damaging Het
Epb41l2 G T 10: 25,502,124 (GRCm38) G695C probably damaging Het
Erbb4 C T 1: 68,560,576 (GRCm38) R114H probably damaging Het
F2rl1 G T 13: 95,513,938 (GRCm38) Y145* probably null Het
Fam58b T C 11: 78,751,230 (GRCm38) K145E probably damaging Het
Fsip2 A T 2: 82,980,441 (GRCm38) Y2368F possibly damaging Het
Galnt7 C T 8: 57,536,578 (GRCm38) probably null Het
Gm6811 T A 17: 21,093,983 (GRCm38) noncoding transcript Het
Gm6811 T G 17: 21,094,690 (GRCm38) noncoding transcript Het
H2-M1 G A 17: 36,671,710 (GRCm38) T86M possibly damaging Het
Hk2 T C 6: 82,743,366 (GRCm38) D170G probably benign Het
Hmcn1 C T 1: 150,738,681 (GRCm38) A1325T possibly damaging Het
Insrr T A 3: 87,800,519 (GRCm38) Y89* probably null Het
Itga1 T C 13: 114,980,852 (GRCm38) E871G probably benign Het
Kat6a T C 8: 22,939,405 (GRCm38) L1592P possibly damaging Het
Kndc1 C A 7: 139,921,063 (GRCm38) A756E probably benign Het
Krt12 A T 11: 99,421,902 (GRCm38) C105* probably null Het
Lama1 G A 17: 67,784,088 (GRCm38) probably null Het
Lama3 A G 18: 12,506,949 (GRCm38) N67S probably benign Het
Lrrk1 A G 7: 66,306,839 (GRCm38) probably null Het
Map2 T C 1: 66,399,419 (GRCm38) V34A probably damaging Het
Mroh6 A G 15: 75,885,700 (GRCm38) L487P probably damaging Het
Myo18b A T 5: 112,811,642 (GRCm38) S1430T probably benign Het
Notch3 G A 17: 32,154,749 (GRCm38) T495I probably benign Het
Olfr391-ps A T 11: 73,799,403 (GRCm38) M118K probably damaging Het
Palld C T 8: 61,513,423 (GRCm38) A980T probably damaging Het
Paxip1 A T 5: 27,761,668 (GRCm38) I620N probably damaging Het
Pcdha6 A G 18: 36,969,767 (GRCm38) probably null Het
Pcdhb11 G A 18: 37,421,760 (GRCm38) V48M probably benign Het
Pcdhga6 A G 18: 37,707,644 (GRCm38) E139G probably benign Het
Pck1 T C 2: 173,157,319 (GRCm38) V426A probably damaging Het
Pck2 T A 14: 55,542,624 (GRCm38) I110N probably damaging Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm38) probably benign Het
Phactr3 G A 2: 178,279,019 (GRCm38) E222K probably damaging Het
Ppip5k1 A T 2: 121,323,203 (GRCm38) probably benign Het
Prodh2 A G 7: 30,506,651 (GRCm38) H278R probably benign Het
Rspry1 T A 8: 94,623,258 (GRCm38) H91Q probably damaging Het
Slc13a2 CGTTATCTGT CGT 11: 78,403,480 (GRCm38) probably benign Het
Smn1 A G 13: 100,127,995 (GRCm38) N78S possibly damaging Het
Spta1 T A 1: 174,218,512 (GRCm38) I1614N probably damaging Het
Syt17 T C 7: 118,434,290 (GRCm38) D165G probably damaging Het
Tbck A G 3: 132,743,005 (GRCm38) Y593C probably damaging Het
Tcaf2 G C 6: 42,629,753 (GRCm38) F422L probably benign Het
Tex15 T A 8: 33,577,189 (GRCm38) F2216I possibly damaging Het
Trpc4 A G 3: 54,318,020 (GRCm38) E846G probably benign Het
Ttc41 T C 10: 86,744,449 (GRCm38) I753T probably benign Het
Vdac1 C T 11: 52,376,482 (GRCm38) T70M possibly damaging Het
Vmn1r124 A C 7: 21,260,179 (GRCm38) F147V probably benign Het
Vmn1r220 T C 13: 23,184,295 (GRCm38) D77G probably damaging Het
Vmn2r28 T C 7: 5,490,731 (GRCm38) H72R probably benign Het
Vmn2r78 A T 7: 86,921,110 (GRCm38) I279L probably benign Het
Vmn2r95 G T 17: 18,451,470 (GRCm38) A490S possibly damaging Het
Wdfy4 C T 14: 33,109,525 (GRCm38) A915T possibly damaging Het
Zmiz2 G T 11: 6,395,604 (GRCm38) probably null Het
Zscan2 A G 7: 80,875,809 (GRCm38) N426S probably benign Het
Other mutations in Cdk11b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01764:Cdk11b APN 4 155,628,803 (GRCm38) missense possibly damaging 0.54
R0071:Cdk11b UTSW 4 155,649,423 (GRCm38) unclassified probably benign
R0071:Cdk11b UTSW 4 155,649,423 (GRCm38) unclassified probably benign
R0145:Cdk11b UTSW 4 155,641,619 (GRCm38) intron probably benign
R0372:Cdk11b UTSW 4 155,641,500 (GRCm38) intron probably benign
R0426:Cdk11b UTSW 4 155,642,512 (GRCm38) intron probably benign
R0471:Cdk11b UTSW 4 155,647,542 (GRCm38) unclassified probably benign
R0627:Cdk11b UTSW 4 155,640,772 (GRCm38) intron probably benign
R1475:Cdk11b UTSW 4 155,634,217 (GRCm38) missense probably damaging 1.00
R1611:Cdk11b UTSW 4 155,641,575 (GRCm38) intron probably benign
R1719:Cdk11b UTSW 4 155,648,397 (GRCm38) unclassified probably benign
R1750:Cdk11b UTSW 4 155,628,680 (GRCm38) splice site probably null
R2061:Cdk11b UTSW 4 155,641,604 (GRCm38) intron probably benign
R2274:Cdk11b UTSW 4 155,647,594 (GRCm38) unclassified probably benign
R2922:Cdk11b UTSW 4 155,640,744 (GRCm38) intron probably benign
R3719:Cdk11b UTSW 4 155,626,886 (GRCm38) missense probably damaging 1.00
R3917:Cdk11b UTSW 4 155,626,801 (GRCm38) missense probably damaging 1.00
R4077:Cdk11b UTSW 4 155,639,747 (GRCm38) intron probably benign
R4078:Cdk11b UTSW 4 155,639,747 (GRCm38) intron probably benign
R5033:Cdk11b UTSW 4 155,648,825 (GRCm38) unclassified probably benign
R5212:Cdk11b UTSW 4 155,638,615 (GRCm38) splice site probably null
R5556:Cdk11b UTSW 4 155,634,147 (GRCm38) nonsense probably null
R5622:Cdk11b UTSW 4 155,630,217 (GRCm38) missense probably damaging 1.00
R5927:Cdk11b UTSW 4 155,648,240 (GRCm38) unclassified probably benign
R5975:Cdk11b UTSW 4 155,648,240 (GRCm38) unclassified probably benign
R6278:Cdk11b UTSW 4 155,649,603 (GRCm38) unclassified probably benign
R6905:Cdk11b UTSW 4 155,641,608 (GRCm38) intron probably benign
R6998:Cdk11b UTSW 4 155,648,343 (GRCm38) nonsense probably null
R7021:Cdk11b UTSW 4 155,641,567 (GRCm38) intron probably benign
R7062:Cdk11b UTSW 4 155,626,811 (GRCm38) missense probably damaging 1.00
R7100:Cdk11b UTSW 4 155,625,593 (GRCm38) missense probably damaging 1.00
R7338:Cdk11b UTSW 4 155,647,551 (GRCm38) missense unknown
R7811:Cdk11b UTSW 4 155,639,902 (GRCm38) missense unknown
R8213:Cdk11b UTSW 4 155,639,881 (GRCm38) missense unknown
R8257:Cdk11b UTSW 4 155,647,941 (GRCm38) missense unknown
R8696:Cdk11b UTSW 4 155,648,322 (GRCm38) missense unknown
R9419:Cdk11b UTSW 4 155,639,845 (GRCm38) missense unknown
R9546:Cdk11b UTSW 4 155,649,132 (GRCm38) missense unknown
R9628:Cdk11b UTSW 4 155,649,697 (GRCm38) missense unknown
R9792:Cdk11b UTSW 4 155,647,921 (GRCm38) missense unknown
R9793:Cdk11b UTSW 4 155,647,921 (GRCm38) missense unknown
Z1088:Cdk11b UTSW 4 155,641,564 (GRCm38) intron probably benign
Predicted Primers PCR Primer
(F):5'- GGTCTAAGAGACTTCTGTCAGCC -3'
(R):5'- TATCTTTCCCAGAGCCCAGG -3'

Sequencing Primer
(F):5'- CCTTTAATTGCAGCACTCAGGAGG -3'
(R):5'- GCGTGGCTGTCACATCACAG -3'
Posted On 2018-03-15