Incidental Mutation 'R8696:Cdk11b'
ID 668687
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 068550-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8696 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 155709311-155734395 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 155732779 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 539 (V539A)
Ref Sequence ENSEMBL: ENSMUSP00000070527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030937] [ENSMUST00000067081] [ENSMUST00000105598] [ENSMUST00000105600] [ENSMUST00000115821]
AlphaFold P24788
Predicted Effect probably benign
Transcript: ENSMUST00000030937
SMART Domains Protein: ENSMUSP00000030937
Gene: ENSMUSG00000029061

DomainStartEndE-ValueType
low complexity region 19 41 N/A INTRINSIC
ZnMc 85 256 8.39e-48 SMART
ShKT 255 291 4.06e-10 SMART
IG 307 390 4.53e-2 SMART
Predicted Effect unknown
Transcript: ENSMUST00000067081
AA Change: V539A
SMART Domains Protein: ENSMUSP00000070527
Gene: ENSMUSG00000029062
AA Change: V539A

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: V505A
SMART Domains Protein: ENSMUSP00000101223
Gene: ENSMUSG00000029062
AA Change: V505A

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 unknown
Transcript: ENSMUST00000105600
AA Change: V539A
SMART Domains Protein: ENSMUSP00000101225
Gene: ENSMUSG00000029062
AA Change: V539A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T C 15: 64,687,235 (GRCm39) N423S probably benign Het
Adgrl4 T C 3: 151,248,344 (GRCm39) L672P probably damaging Het
Akr1b10 C T 6: 34,369,067 (GRCm39) T182I possibly damaging Het
Ankrd33 A G 15: 101,014,864 (GRCm39) I84V probably benign Het
Arhgap32 A G 9: 32,159,799 (GRCm39) Y272C possibly damaging Het
Arid4a T C 12: 71,110,090 (GRCm39) S144P probably damaging Het
Bicd1 A G 6: 149,415,285 (GRCm39) D666G probably damaging Het
Blk A T 14: 63,618,149 (GRCm39) probably benign Het
Btbd2 C T 10: 80,480,515 (GRCm39) R366Q possibly damaging Het
Cacna1i T C 15: 80,266,175 (GRCm39) V1554A probably damaging Het
Camsap3 T C 8: 3,653,614 (GRCm39) L428P probably damaging Het
Ccdc30 T G 4: 119,234,505 (GRCm39) Y69S possibly damaging Het
Ccdc7a T A 8: 129,715,244 (GRCm39) E280V probably damaging Het
Ceacam3 A T 7: 16,893,937 (GRCm39) N483Y Het
Cenpf C T 1: 189,390,194 (GRCm39) A1213T probably benign Het
Chrna6 G T 8: 27,897,195 (GRCm39) Y227* probably null Het
Cntnap5c A T 17: 58,601,294 (GRCm39) D814V probably damaging Het
Csl A T 10: 99,594,826 (GRCm39) Y80N probably damaging Het
Ctsm A G 13: 61,685,521 (GRCm39) L297P probably damaging Het
Cyp4a31 G A 4: 115,422,225 (GRCm39) E70K probably benign Het
Dhx8 T C 11: 101,623,958 (GRCm39) V31A unknown Het
Dis3l2 G T 1: 86,719,162 (GRCm39) G131* probably null Het
Dkk1 G A 19: 30,526,688 (GRCm39) A31V probably damaging Het
Dlx3 C T 11: 95,012,596 (GRCm39) R130* probably null Het
Dnajc24 T C 2: 105,832,315 (GRCm39) M23V probably benign Het
Dnmbp T A 19: 43,862,662 (GRCm39) N76I probably damaging Het
Ezh1 T C 11: 101,100,305 (GRCm39) N226S probably benign Het
Fabp9 C T 3: 10,259,047 (GRCm39) V120M possibly damaging Het
Fcrlb A G 1: 170,739,648 (GRCm39) C85R probably damaging Het
Gnai2 A C 9: 107,496,968 (GRCm39) L131R Het
Gprin1 A G 13: 54,885,764 (GRCm39) W837R probably damaging Het
Grm3 C T 5: 9,562,311 (GRCm39) C513Y probably damaging Het
H60c T A 10: 3,210,265 (GRCm39) I95F possibly damaging Het
Hecw1 A G 13: 14,531,743 (GRCm39) V177A possibly damaging Het
Herc6 T A 6: 57,624,134 (GRCm39) C635S probably benign Het
Itga4 A T 2: 79,112,125 (GRCm39) M347L probably benign Het
Kif20b A G 19: 34,914,752 (GRCm39) H436R probably benign Het
Klrg2 G T 6: 38,613,430 (GRCm39) P191Q possibly damaging Het
Krt5 A G 15: 101,618,742 (GRCm39) Y340H probably damaging Het
Map9 T A 3: 82,270,668 (GRCm39) H77Q possibly damaging Het
Mfsd13a A G 19: 46,356,557 (GRCm39) T221A probably benign Het
Myo10 C G 15: 25,799,572 (GRCm39) H1378Q probably damaging Het
Nkx6-1 T C 5: 101,807,513 (GRCm39) T290A possibly damaging Het
Nlgn3 T C X: 100,352,390 (GRCm39) V179A probably damaging Het
Notch1 T A 2: 26,368,004 (GRCm39) probably benign Het
Nr1d2 A T 14: 18,216,661 (GRCm38) M169K probably damaging Het
Or10ak8 C T 4: 118,774,635 (GRCm39) V10I probably benign Het
Or11g1 A G 14: 50,651,420 (GRCm39) M140V possibly damaging Het
Or13c7c A G 4: 43,836,193 (GRCm39) V99A probably benign Het
Or6c69b A T 10: 129,626,562 (GRCm39) F299I possibly damaging Het
Or8b41 A G 9: 38,054,433 (GRCm39) M1V probably null Het
Pdia6 T A 12: 17,329,662 (GRCm39) I266K probably damaging Het
Phactr4 T C 4: 132,091,105 (GRCm39) probably null Het
Polr1b T A 2: 128,967,571 (GRCm39) L988Q probably damaging Het
Por A T 5: 135,763,112 (GRCm39) M541L probably benign Het
Ppid T C 3: 79,498,689 (GRCm39) probably benign Het
Prp2 A T 6: 132,577,322 (GRCm39) Q203L unknown Het
Psme4 T G 11: 30,759,896 (GRCm39) F340V probably damaging Het
Ptges2 T C 2: 32,290,077 (GRCm39) S164P probably damaging Het
Rab18 G A 18: 6,788,635 (GRCm39) G201S probably damaging Het
Rbm19 A G 5: 120,265,132 (GRCm39) E391G probably damaging Het
Rcbtb2 T G 14: 73,404,305 (GRCm39) V259G probably damaging Het
Rpn1 C A 6: 88,080,359 (GRCm39) Q553K possibly damaging Het
Sash1 A G 10: 8,609,459 (GRCm39) S697P probably damaging Het
Sdad1 T G 5: 92,437,645 (GRCm39) H603P probably damaging Het
Serpini1 T C 3: 75,520,544 (GRCm39) L47P probably damaging Het
Sorbs2 T A 8: 46,248,686 (GRCm39) S646T possibly damaging Het
Spdye4a T A 5: 143,210,754 (GRCm39) E105D probably benign Het
Srsf12 G A 4: 33,231,181 (GRCm39) C230Y possibly damaging Het
Stard9 A T 2: 120,531,595 (GRCm39) R2617S probably benign Het
Tas2r118 G T 6: 23,969,344 (GRCm39) T239K probably damaging Het
Tlr1 A G 5: 65,084,094 (GRCm39) L161P probably benign Het
Ttc21a T G 9: 119,772,977 (GRCm39) V218G possibly damaging Het
Ttc6 T C 12: 57,784,492 (GRCm39) S1854P probably benign Het
Unc93a A G 17: 13,341,852 (GRCm39) L93P probably damaging Het
Vcan A T 13: 89,839,217 (GRCm39) I2109N probably benign Het
Vmn1r225 A T 17: 20,723,419 (GRCm39) S287C probably damaging Het
Vmn1r43 A G 6: 89,847,321 (GRCm39) F55S probably damaging Het
Zfp772 T C 7: 7,208,518 (GRCm39) T109A possibly damaging Het
Zfp87 A G 13: 74,520,599 (GRCm39) Y160H probably damaging 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
R3917:Cdk11b UTSW 4 155,711,258 (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
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'- GTTCCTGGAATGAACTTGCCC -3'
(R):5'- AACTGGAGTGTAGGCCTTTAGG -3'

Sequencing Primer
(F):5'- GAACTTGCCCCAGAAGTCTAGTTG -3'
(R):5'- GCCTTTAGGGGTGAACCATACTC -3'
Posted On 2021-04-30