Incidental Mutation 'R1281:Csnk1e'
ID 151036
Institutional Source Beutler Lab
Gene Symbol Csnk1e
Ensembl Gene ENSMUSG00000022433
Gene Name casein kinase 1, epsilon
Synonyms tau, CKIepsilon, CK1epsilon, CKI epsilon, KC1epsilon
MMRRC Submission 039347-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1281 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 79302056-79339767 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 79304841 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 387 (N387K)
Ref Sequence ENSEMBL: ENSMUSP00000113975 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117786] [ENSMUST00000120859] [ENSMUST00000122044]
AlphaFold Q9JMK2
Predicted Effect possibly damaging
Transcript: ENSMUST00000117786
AA Change: N387K

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113341
Gene: ENSMUSG00000022433
AA Change: N387K

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 9 273 8.7e-18 PFAM
Pfam:Pkinase 9 277 5.2e-28 PFAM
low complexity region 306 316 N/A INTRINSIC
low complexity region 329 338 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000120859
AA Change: N387K

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113975
Gene: ENSMUSG00000022433
AA Change: N387K

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 9 273 9.8e-18 PFAM
Pfam:Pkinase 9 280 7e-40 PFAM
low complexity region 306 316 N/A INTRINSIC
low complexity region 329 338 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000122044
SMART Domains Protein: ENSMUSP00000113096
Gene: ENSMUSG00000022433

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 9 273 7.9e-18 PFAM
Pfam:Pkinase 9 280 5.7e-40 PFAM
low complexity region 309 324 N/A INTRINSIC
low complexity region 345 350 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127155
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136003
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137028
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145740
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156513
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.4%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a serine/threonine protein kinase and a member of the casein kinase I protein family, whose members have been implicated in the control of cytoplasmic and nuclear processes, including DNA replication and repair. The encoded protein is found in the cytoplasm as a monomer and can phosphorylate a variety of proteins, including itself. This protein has been shown to phosphorylate period, a circadian rhythm protein. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit disruptions in circadian rhythms. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aim2 A T 1: 173,287,377 (GRCm39) K126* probably null Het
C9 A T 15: 6,519,321 (GRCm39) N386I possibly damaging Het
Cul9 T C 17: 46,822,460 (GRCm39) T1758A probably damaging Het
Dcaf17 A G 2: 70,908,500 (GRCm39) I256V probably damaging Het
Duox1 G A 2: 122,157,569 (GRCm39) C565Y probably damaging Het
Fchsd2 A G 7: 100,902,759 (GRCm39) H379R possibly damaging Het
Gjb3 G A 4: 127,220,224 (GRCm39) R103W probably damaging Het
Krt1c C A 15: 101,721,727 (GRCm39) C438F probably damaging Het
Mast4 G A 13: 102,887,086 (GRCm39) T1001I probably damaging Het
Mrc1 T C 2: 14,298,321 (GRCm39) F726L probably damaging Het
Mroh2a T TN 1: 88,183,889 (GRCm39) probably null Het
Mttp T C 3: 137,812,980 (GRCm39) N550S possibly damaging Het
Necap1 G T 6: 122,851,573 (GRCm39) D16Y possibly damaging Het
Nox3 A T 17: 3,746,460 (GRCm39) I26N probably damaging Het
Patj T C 4: 98,304,932 (GRCm39) I262T probably damaging Het
Pcdh8 T C 14: 80,005,166 (GRCm39) E953G probably damaging Het
Pirb A T 7: 3,720,189 (GRCm39) C395S probably damaging Het
Sacs A G 14: 61,429,250 (GRCm39) I433M probably benign Het
Sclt1 A G 3: 41,602,055 (GRCm39) F552L probably benign Het
Smc5 T C 19: 23,213,247 (GRCm39) N479S probably benign Het
Tg G A 15: 66,568,338 (GRCm39) V1342I probably benign Het
Ube2n C A 10: 95,377,618 (GRCm39) N132K probably benign Het
Vmn2r55 A T 7: 12,404,825 (GRCm39) C193S probably benign Het
Zc3hav1 A G 6: 38,330,872 (GRCm39) C96R probably damaging Het
Zfp60 T A 7: 27,437,852 (GRCm39) V53E probably damaging Het
Other mutations in Csnk1e
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0624:Csnk1e UTSW 15 79,304,098 (GRCm39) unclassified probably benign
R1618:Csnk1e UTSW 15 79,309,050 (GRCm39) missense probably benign 0.02
R3005:Csnk1e UTSW 15 79,323,005 (GRCm39) missense probably benign 0.42
R4241:Csnk1e UTSW 15 79,309,095 (GRCm39) missense probably damaging 1.00
R4242:Csnk1e UTSW 15 79,309,095 (GRCm39) missense probably damaging 1.00
R4276:Csnk1e UTSW 15 79,313,967 (GRCm39) missense probably damaging 1.00
R4438:Csnk1e UTSW 15 79,305,129 (GRCm39) missense probably benign 0.08
R4994:Csnk1e UTSW 15 79,309,129 (GRCm39) missense probably damaging 1.00
R5071:Csnk1e UTSW 15 79,305,072 (GRCm39) nonsense probably null
R7072:Csnk1e UTSW 15 79,322,967 (GRCm39) splice site probably null
R7553:Csnk1e UTSW 15 79,310,566 (GRCm39) missense probably damaging 1.00
R8379:Csnk1e UTSW 15 79,304,882 (GRCm39) missense possibly damaging 0.88
R8721:Csnk1e UTSW 15 79,314,015 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- GGCCATTAAGTGGGATGACCTGAC -3'
(R):5'- TTGCAATGAAGCACCCTCCCTG -3'

Sequencing Primer
(F):5'- TTCGCTTTGCTCAACACAAGAG -3'
(R):5'- ATCCCGAGGATGTAGACCG -3'
Posted On 2014-01-29