Incidental Mutation 'R5914:Cdkl4'
ID 461233
Institutional Source Beutler Lab
Gene Symbol Cdkl4
Ensembl Gene ENSMUSG00000033966
Gene Name cyclin dependent kinase like 4
Synonyms LOC381113
MMRRC Submission 044111-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5914 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 80830979-80885242 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 80855120 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000083732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086545]
AlphaFold Q3TZA2
Predicted Effect probably null
Transcript: ENSMUST00000086545
SMART Domains Protein: ENSMUSP00000083732
Gene: ENSMUSG00000033966

DomainStartEndE-ValueType
S_TKc 4 286 6.65e-102 SMART
low complexity region 295 307 N/A INTRINSIC
Meta Mutation Damage Score 0.9486 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.5%
Validation Efficiency 95% (87/92)
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 G A 15: 74,410,219 (GRCm39) R286H possibly damaging Het
Ank3 A T 10: 69,828,774 (GRCm39) probably benign Het
Arhgap24 G A 5: 102,700,025 (GRCm39) probably null Het
Arhgef2 T C 3: 88,543,176 (GRCm39) Y396H probably benign Het
Asap3 G T 4: 135,968,720 (GRCm39) G722C probably benign Het
Birc2 A C 9: 7,857,343 (GRCm39) *377E probably null Het
Cdc123 G T 2: 5,803,174 (GRCm39) Q282K possibly damaging Het
Cep97 T C 16: 55,725,820 (GRCm39) N689S probably benign Het
Cfap97 T G 8: 46,634,895 (GRCm39) S407A probably damaging Het
Cfh A T 1: 140,063,967 (GRCm39) N436K probably benign Het
Chpf2 A T 5: 24,797,421 (GRCm39) probably benign Het
Cnnm2 A G 19: 46,751,616 (GRCm39) T469A probably benign Het
Col6a3 T A 1: 90,703,922 (GRCm39) I2275F unknown Het
Ctdspl2 A T 2: 121,809,414 (GRCm39) N122Y probably damaging Het
Dcaf6 A T 1: 165,178,724 (GRCm39) C602S probably benign Het
Dda1 T A 8: 71,927,294 (GRCm39) probably benign Het
Dixdc1 T C 9: 50,609,888 (GRCm39) probably benign Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Emilin3 T A 2: 160,750,990 (GRCm39) N253I probably damaging Het
Epg5 T A 18: 78,002,847 (GRCm39) probably null Het
Fam204a A T 19: 60,209,525 (GRCm39) Y68* probably null Het
Fbln5 T G 12: 101,727,002 (GRCm39) D329A possibly damaging Het
Fkbp15 T A 4: 62,246,047 (GRCm39) probably null Het
Fnbp4 C G 2: 90,605,137 (GRCm39) probably benign Het
Foxn2 C A 17: 88,770,138 (GRCm39) probably null Het
Frem1 T C 4: 82,920,012 (GRCm39) D448G probably damaging Het
Fzd9 T C 5: 135,278,199 (GRCm39) Y562C probably benign Het
Gcn1 A G 5: 115,748,194 (GRCm39) silent Het
Gm6003 A G 7: 32,864,691 (GRCm39) noncoding transcript Het
Gnl3 C A 14: 30,738,853 (GRCm39) E65D possibly damaging Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,905,247 (GRCm39) probably benign Het
Hk2 C T 6: 82,713,615 (GRCm39) R461K probably benign Het
Ice1 A G 13: 70,754,496 (GRCm39) F530S possibly damaging Het
Ing3 T A 6: 21,968,904 (GRCm39) S129T probably benign Het
Ino80 G A 2: 119,288,697 (GRCm39) S3L probably damaging Het
Ints2 T A 11: 86,113,000 (GRCm39) Q839H probably benign Het
Kcnrg T C 14: 61,849,280 (GRCm39) M247T probably benign Het
Kpna6 T C 4: 129,566,485 (GRCm39) probably benign Het
Krtap28-13 T A 1: 83,039,044 (GRCm39) probably benign Het
Lgr4 T A 2: 109,748,617 (GRCm39) V51E possibly damaging Het
Map3k5 A C 10: 19,980,001 (GRCm39) E836D probably benign Het
Mapk11 T C 15: 89,030,038 (GRCm39) I193V probably benign Het
Marchf10 A T 11: 105,276,308 (GRCm39) V660E probably damaging Het
Matn4 T C 2: 164,235,144 (GRCm39) E435G probably damaging Het
Mre11a G T 9: 14,723,232 (GRCm39) R402M probably damaging Het
Msr1 C T 8: 40,034,868 (GRCm39) G428R probably damaging Het
Ndufv3 C T 17: 31,750,206 (GRCm39) R99* probably null Het
Nkx6-1 C T 5: 101,811,847 (GRCm39) S85N unknown Het
Nop2 A T 6: 125,111,691 (GRCm39) E141D probably benign Het
Or5b3 A G 19: 13,388,326 (GRCm39) H131R probably benign Het
Or8b1 G C 9: 38,399,657 (GRCm39) E111Q probably damaging Het
Paox T C 7: 139,709,101 (GRCm39) S205P probably damaging Het
Pcdh15 T C 10: 74,466,768 (GRCm39) V995A probably benign Het
Pdcd1 T A 1: 93,968,550 (GRCm39) K161N probably benign Het
Pfkfb2 C A 1: 130,627,832 (GRCm39) V372L probably damaging Het
Phldb1 G A 9: 44,622,948 (GRCm39) T19I probably damaging Het
Pik3c2g G T 6: 139,599,477 (GRCm39) V198L probably benign Het
Pnpla8 T A 12: 44,342,753 (GRCm39) L41* probably null Het
Postn C T 3: 54,281,221 (GRCm39) Q449* probably null Het
Ppp1r3a C T 6: 14,718,988 (GRCm39) S642N probably benign Het
Ptpn23 G A 9: 110,214,511 (GRCm39) probably benign Het
Ptprj T C 2: 90,283,684 (GRCm39) N923S possibly damaging Het
Rai1 T C 11: 60,078,630 (GRCm39) V898A probably benign Het
Rasgef1a A T 6: 118,057,515 (GRCm39) Y72F possibly damaging Het
Serpinb7 T C 1: 107,379,580 (GRCm39) V329A probably damaging Het
Slc24a4 T A 12: 102,201,049 (GRCm39) I311N probably damaging Het
Slc45a1 C A 4: 150,713,997 (GRCm39) L749F possibly damaging Het
Spon1 G A 7: 113,630,056 (GRCm39) D428N probably damaging Het
Tcf7l2 G A 19: 55,886,992 (GRCm39) E2K probably benign Het
Thoc5 A G 11: 4,870,416 (GRCm39) M472V possibly damaging Het
Tm6sf2 T C 8: 70,528,213 (GRCm39) Y121H probably damaging Het
Tmc4 T A 7: 3,675,008 (GRCm39) D221V probably benign Het
Trim30b A T 7: 104,006,572 (GRCm39) S95T probably damaging Het
Trip12 T C 1: 84,741,179 (GRCm39) E571G probably damaging Het
Ttn T C 2: 76,781,656 (GRCm39) probably null Het
Ubp1 A T 9: 113,785,807 (GRCm39) R161W probably benign Het
Usp21 G A 1: 171,109,745 (GRCm39) probably benign Het
Vmn1r61 T A 7: 5,613,529 (GRCm39) R262W probably damaging Het
Vmn2r67 A T 7: 84,801,044 (GRCm39) D297E probably damaging Het
Vwa5a T C 9: 38,653,038 (GRCm39) L784S probably benign Het
Vwc2 G A 11: 11,104,244 (GRCm39) V259M probably damaging Het
Zeb2 T C 2: 44,887,064 (GRCm39) I596M probably benign Het
Zgrf1 T A 3: 127,354,672 (GRCm39) L97H probably damaging Het
Other mutations in Cdkl4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00236:Cdkl4 APN 17 80,832,705 (GRCm39) utr 3 prime probably benign
IGL01752:Cdkl4 APN 17 80,851,043 (GRCm39) splice site probably benign
IGL02000:Cdkl4 APN 17 80,851,192 (GRCm39) missense probably damaging 1.00
IGL02393:Cdkl4 APN 17 80,867,844 (GRCm39) missense probably damaging 1.00
R0047:Cdkl4 UTSW 17 80,858,274 (GRCm39) missense probably benign 0.10
R0507:Cdkl4 UTSW 17 80,851,237 (GRCm39) missense probably benign 0.06
R1555:Cdkl4 UTSW 17 80,851,043 (GRCm39) splice site probably benign
R1623:Cdkl4 UTSW 17 80,863,731 (GRCm39) splice site probably null
R2007:Cdkl4 UTSW 17 80,863,730 (GRCm39) splice site probably benign
R4701:Cdkl4 UTSW 17 80,851,081 (GRCm39) missense probably damaging 0.97
R4975:Cdkl4 UTSW 17 80,832,764 (GRCm39) nonsense probably null
R5246:Cdkl4 UTSW 17 80,846,913 (GRCm39) splice site probably null
R5708:Cdkl4 UTSW 17 80,846,951 (GRCm39) missense possibly damaging 0.94
R6464:Cdkl4 UTSW 17 80,832,781 (GRCm39) missense probably benign 0.00
R6882:Cdkl4 UTSW 17 80,851,175 (GRCm39) missense probably damaging 0.99
R7176:Cdkl4 UTSW 17 80,851,221 (GRCm39) nonsense probably null
R7582:Cdkl4 UTSW 17 80,841,264 (GRCm39) missense probably benign 0.42
R8713:Cdkl4 UTSW 17 80,841,292 (GRCm39) missense possibly damaging 0.86
R8737:Cdkl4 UTSW 17 80,858,258 (GRCm39) missense probably benign 0.01
R9161:Cdkl4 UTSW 17 80,851,120 (GRCm39) missense probably damaging 1.00
Z1177:Cdkl4 UTSW 17 80,858,287 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TACATCCTAGCTGAATTGTCAATGG -3'
(R):5'- GACAGACACAGTTTCCTTGTG -3'

Sequencing Primer
(F):5'- CCTAGCTGAATTGTCAATGGATTCTG -3'
(R):5'- ACTCTGTAGCTCAATCAGGCTGG -3'
Posted On 2017-02-28