Incidental Mutation 'R4438:Csnk1e'
ID 329642
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 041703-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4438 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 79302056-79339767 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 79305129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 323 (S323T)
Ref Sequence ENSEMBL: ENSMUSP00000113975 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117786] [ENSMUST00000120859] [ENSMUST00000122044]
AlphaFold Q9JMK2
Predicted Effect probably benign
Transcript: ENSMUST00000117786
AA Change: S323T

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000113341
Gene: ENSMUSG00000022433
AA Change: S323T

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 probably benign
Transcript: ENSMUST00000120859
AA Change: S323T

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000113975
Gene: ENSMUSG00000022433
AA Change: S323T

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
Meta Mutation Damage Score 0.0590 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (52/52)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1 T A 2: 58,367,739 (GRCm39) I141F probably benign Het
Adam6b A C 12: 113,454,281 (GRCm39) Q366P probably damaging Het
Adck1 C T 12: 88,397,920 (GRCm39) Q185* probably null Het
Adgrb3 T C 1: 25,870,108 (GRCm39) probably benign Het
Als2cl T C 9: 110,714,466 (GRCm39) S105P probably damaging Het
Asns C A 6: 7,675,320 (GRCm39) A561S probably benign Het
Bcl2a1d A T 9: 88,613,753 (GRCm39) M7K probably benign Het
Bst1 A T 5: 43,982,682 (GRCm39) probably null Het
Cdc37l1 T C 19: 28,985,021 (GRCm39) F224L probably damaging Het
Csmd3 G A 15: 47,763,191 (GRCm39) T1215I possibly damaging Het
Cyp2j7 G T 4: 96,105,646 (GRCm39) T288K probably benign Het
Dnaaf5 T A 5: 139,149,147 (GRCm39) I482N probably damaging Het
Dpy19l3 A G 7: 35,392,284 (GRCm39) I636T probably damaging Het
Enpep T G 3: 129,077,740 (GRCm39) T626P possibly damaging Het
Fgfr2 G A 7: 129,774,660 (GRCm39) R509* probably null Het
Gm5849 T A 3: 90,685,182 (GRCm39) K1M probably null Het
Gpr83 T C 9: 14,776,134 (GRCm39) Y152H probably damaging Het
Hdac7 T C 15: 97,705,596 (GRCm39) E400G probably damaging Het
Hypk A T 2: 121,288,475 (GRCm39) E82V probably damaging Het
Iqub C A 6: 24,505,867 (GRCm39) A14S probably benign Het
Lias T C 5: 65,552,787 (GRCm39) M130T probably damaging Het
Lingo4 T C 3: 94,310,204 (GRCm39) S381P possibly damaging Het
Mdn1 A G 4: 32,704,635 (GRCm39) T1536A probably damaging Het
Moxd2 T A 6: 40,860,996 (GRCm39) D265V probably damaging Het
Mtbp C A 15: 55,466,611 (GRCm39) S541R probably benign Het
Or10j27 C A 1: 172,957,869 (GRCm39) C305F probably benign Het
Or2a54 T C 6: 43,093,221 (GRCm39) S182P probably benign Het
Or4k15b T C 14: 50,272,287 (GRCm39) D191G probably damaging Het
Pcsk9 G T 4: 106,316,156 (GRCm39) Q96K probably benign Het
Pramel14 T C 4: 143,718,192 (GRCm39) Y417C probably damaging Het
Rln1 A T 19: 29,311,962 (GRCm39) F12Y possibly damaging Het
Setd1a A G 7: 127,384,903 (GRCm39) N585D possibly damaging Het
Siah1b G A X: 162,854,688 (GRCm39) P131S probably damaging Het
Smarcal1 T C 1: 72,650,637 (GRCm39) probably benign Het
Snx19 G T 9: 30,339,895 (GRCm39) L344F probably benign Het
Srfbp1 T C 18: 52,621,403 (GRCm39) C155R probably benign Het
Sspo C T 6: 48,464,287 (GRCm39) R3914C probably damaging Het
Tacc2 G A 7: 130,225,271 (GRCm39) S652N probably damaging Het
Tmub1 A C 5: 24,651,068 (GRCm39) L197R probably damaging Het
Tnc T C 4: 63,926,066 (GRCm39) T905A possibly damaging Het
Tnfrsf21 G T 17: 43,398,733 (GRCm39) R613L possibly damaging Het
Ugt3a1 A T 15: 9,351,283 (GRCm39) E97D probably benign Het
Vmn2r25 A G 6: 123,816,756 (GRCm39) I275T probably benign Het
Zfp1010 T G 2: 176,956,889 (GRCm39) Q203P possibly damaging Het
Zfp568 G T 7: 29,721,721 (GRCm39) C221F probably benign Het
Zfp91 C A 19: 12,755,385 (GRCm39) E217* probably null Het
Zswim3 T A 2: 164,662,563 (GRCm39) C348S probably benign Het
Other mutations in Csnk1e
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0624:Csnk1e UTSW 15 79,304,098 (GRCm39) unclassified probably benign
R1281:Csnk1e UTSW 15 79,304,841 (GRCm39) missense possibly damaging 0.80
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
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'- CCTTCAGTACGGGCATTAAGC -3'
(R):5'- AACTCTGGCCTTCTTGGTATGG -3'

Sequencing Primer
(F):5'- GCATTAAGCAACCCCCTGAC -3'
(R):5'- GAAAGGTGGGCTGACTTCC -3'
Posted On 2015-07-21