Incidental Mutation 'R6882:Cdkl4'
ID 536756
Institutional Source Beutler Lab
Gene Symbol Cdkl4
Ensembl Gene ENSMUSG00000033966
Gene Name cyclin dependent kinase like 4
Synonyms LOC381113
MMRRC Submission 044977-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6882 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 80830979-80885242 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80851175 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 176 (T176S)
Ref Sequence ENSEMBL: ENSMUSP00000083732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086545]
AlphaFold Q3TZA2
Predicted Effect probably damaging
Transcript: ENSMUST00000086545
AA Change: T176S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000083732
Gene: ENSMUSG00000033966
AA Change: T176S

DomainStartEndE-ValueType
S_TKc 4 286 6.65e-102 SMART
low complexity region 295 307 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.9%
Validation Efficiency 100% (63/63)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr10 A G 12: 71,003,125 (GRCm39) E238G probably benign Het
Adgrf5 T A 17: 43,761,271 (GRCm39) C989S probably damaging Het
Ank2 T G 3: 126,739,406 (GRCm39) probably benign Het
C2cd6 T C 1: 59,105,318 (GRCm39) D320G probably damaging Het
Cacnb2 T A 2: 14,829,110 (GRCm39) I15N probably benign Het
Cage1 T A 13: 38,206,534 (GRCm39) Q437L probably damaging Het
Capn15 G T 17: 26,179,153 (GRCm39) probably null Het
Cbll1 A G 12: 31,537,484 (GRCm39) Y424H probably damaging Het
Ccdc166 T C 15: 75,853,466 (GRCm39) H167R possibly damaging Het
Ccdc7a T C 8: 129,523,809 (GRCm39) probably benign Het
Cnot1 T C 8: 96,447,054 (GRCm39) E2321G possibly damaging Het
Col6a5 G A 9: 105,817,469 (GRCm39) Q281* probably null Het
Csmd2 A G 4: 128,343,062 (GRCm39) T1485A probably benign Het
Dmxl1 A G 18: 49,976,851 (GRCm39) probably null Het
Dnah3 A G 7: 119,570,407 (GRCm39) I2271T possibly damaging Het
Elavl2 A G 4: 91,196,952 (GRCm39) I42T probably damaging Het
Epn3 C T 11: 94,382,186 (GRCm39) A568T probably benign Het
Etv3 T C 3: 87,436,577 (GRCm39) F111L probably damaging Het
Fnip1 A G 11: 54,400,724 (GRCm39) E1041G probably damaging Het
Fosl2 T C 5: 32,310,208 (GRCm39) V219A possibly damaging Het
Foxj2 T A 6: 122,805,464 (GRCm39) probably null Het
Gm8947 G A 1: 151,068,880 (GRCm39) A238T possibly damaging Het
Golgb1 C A 16: 36,734,352 (GRCm39) Q1200K probably benign Het
Igkv4-55 A G 6: 69,584,289 (GRCm39) Y108H probably damaging Het
Iglc1 G A 16: 18,880,599 (GRCm39) probably benign Het
Ints13 G T 6: 146,464,939 (GRCm39) R221S probably null Het
Ipo11 T C 13: 107,037,190 (GRCm39) probably null Het
Kcnn2 A T 18: 45,692,505 (GRCm39) H27L possibly damaging Het
Kcns3 C T 12: 11,142,049 (GRCm39) V217M probably benign Het
Klra9 A T 6: 130,155,985 (GRCm39) C257S probably damaging Het
Lama5 G A 2: 179,833,455 (GRCm39) P1519L probably damaging Het
Lmbr1l A G 15: 98,805,467 (GRCm39) F345L probably damaging Het
Lrrc18 A C 14: 32,730,646 (GRCm39) I62L probably benign Het
Mr1 A G 1: 155,008,199 (GRCm39) W259R possibly damaging Het
Myo15a G A 11: 60,414,832 (GRCm39) R3325H probably damaging Het
Nid2 A G 14: 19,839,775 (GRCm39) D788G probably damaging Het
Or2y1c A T 11: 49,361,290 (GRCm39) Y104F probably benign Het
Or5an10 C A 19: 12,275,934 (GRCm39) Q187H probably damaging Het
Or5h24 A T 16: 58,918,990 (GRCm39) C122S unknown Het
Or6d12 T C 6: 116,493,395 (GRCm39) V219A probably benign Het
Pbld1 T C 10: 62,897,241 (GRCm39) L11P probably benign Het
Pcnt T C 10: 76,263,662 (GRCm39) E434G probably benign Het
Prg4 G A 1: 150,329,246 (GRCm39) T174M probably damaging Het
Prkdc G A 16: 15,601,127 (GRCm39) probably null Het
Prkdc T A 16: 15,626,020 (GRCm39) S3349T probably benign Het
Prpf38a C A 4: 108,427,365 (GRCm39) E199D probably benign Het
Prrc2c TTGCTGCTGCTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGCTGCTGCTGC 1: 162,536,630 (GRCm39) probably benign Het
Rhbg T A 3: 88,152,527 (GRCm39) H339L probably damaging Het
Rnf183 A G 4: 62,346,261 (GRCm39) I179T probably benign Het
Sh3bp5l G T 11: 58,222,525 (GRCm39) A7S probably benign Het
Slc12a3 T A 8: 95,092,546 (GRCm39) I989N possibly damaging Het
Sycp3 C T 10: 88,308,791 (GRCm39) R246* probably null Het
Tmprss11b T A 5: 86,819,530 (GRCm39) probably null Het
Tmx4 T C 2: 134,485,922 (GRCm39) T2A possibly damaging Het
Tnfsf10 T C 3: 27,380,182 (GRCm39) L82S possibly damaging Het
Tnni3k T A 3: 154,663,357 (GRCm39) I332F possibly damaging Het
Ttn T A 2: 76,644,539 (GRCm39) T13072S probably benign Het
Vmn2r1 A T 3: 63,997,529 (GRCm39) Y395F possibly damaging Het
Zbbx A G 3: 74,979,019 (GRCm39) V476A probably benign Het
Zfp341 T C 2: 154,479,943 (GRCm39) C465R probably damaging Het
Zfp398 A G 6: 47,843,016 (GRCm39) D224G probably damaging Het
Zfp407 G T 18: 84,361,194 (GRCm39) probably null Het
Zfp52 T C 17: 21,775,309 (GRCm39) M1T probably null 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
R5914:Cdkl4 UTSW 17 80,855,120 (GRCm39) critical splice donor site probably null
R6464:Cdkl4 UTSW 17 80,832,781 (GRCm39) missense probably benign 0.00
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'- CTATCATACGGATGCTACAACGAAC -3'
(R):5'- TTCCACGTTCTCCAGCTAGG -3'

Sequencing Primer
(F):5'- TACGGATGCTACAACGAACACAAAAG -3'
(R):5'- CTTGACTCAGCATCAGGAGGAC -3'
Posted On 2018-10-18