Incidental Mutation 'R4242:Csnk1e'
ID 320260
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 041059-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4242 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 79302056-79339767 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79309095 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 277 (F277S)
Ref Sequence ENSEMBL: ENSMUSP00000113096 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117786] [ENSMUST00000120859] [ENSMUST00000122044] [ENSMUST00000135519] [ENSMUST00000229510] [ENSMUST00000230599] [ENSMUST00000144790] [ENSMUST00000230942]
AlphaFold Q9JMK2
Predicted Effect probably damaging
Transcript: ENSMUST00000117786
AA Change: F277S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113341
Gene: ENSMUSG00000022433
AA Change: F277S

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 damaging
Transcript: ENSMUST00000120859
AA Change: F277S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113975
Gene: ENSMUSG00000022433
AA Change: F277S

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 damaging
Transcript: ENSMUST00000122044
AA Change: F277S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113096
Gene: ENSMUSG00000022433
AA Change: F277S

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 probably benign
Transcript: ENSMUST00000135519
SMART Domains Protein: ENSMUSP00000122135
Gene: ENSMUSG00000022433

DomainStartEndE-ValueType
Pfam:Pkinase 9 118 1.5e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135583
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136003
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156513
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137028
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145740
Predicted Effect probably benign
Transcript: ENSMUST00000229510
Predicted Effect probably benign
Transcript: ENSMUST00000230599
Predicted Effect probably benign
Transcript: ENSMUST00000144790
SMART Domains Protein: ENSMUSP00000115637
Gene: ENSMUSG00000022433

DomainStartEndE-ValueType
Pfam:Pkinase 9 141 9.3e-24 PFAM
Pfam:Pkinase_Tyr 9 141 5.6e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000230942
Meta Mutation Damage Score 0.7777 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 100% (35/35)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 C T 5: 105,109,079 (GRCm39) R406H probably benign Het
Blcap T A 2: 157,402,343 (GRCm39) probably benign Het
Chd1 C T 17: 15,990,289 (GRCm39) R1614* probably null Het
Col6a2 C T 10: 76,443,940 (GRCm39) probably null Het
Dock5 T C 14: 68,065,939 (GRCm39) T355A probably benign Het
Dst G A 1: 34,045,297 (GRCm39) C148Y possibly damaging Het
Faim2 T A 15: 99,398,082 (GRCm39) I289F probably damaging Het
Gm4841 A G 18: 60,403,755 (GRCm39) S113P probably benign Het
Heatr5b A G 17: 79,064,351 (GRCm39) S1879P probably benign Het
Igll1 C A 16: 16,681,564 (GRCm39) G64C probably benign Het
Klhdc7a G A 4: 139,694,032 (GRCm39) P305L probably benign Het
Klhl13 T A X: 23,181,414 (GRCm39) D2V probably damaging Het
Kmt2e T C 5: 23,707,820 (GRCm39) probably benign Het
Lrmda C A 14: 22,077,303 (GRCm39) Y13* probably null Het
Mad2l1bp T C 17: 46,463,913 (GRCm39) E37G possibly damaging Het
Mphosph8 T C 14: 56,911,771 (GRCm39) S265P probably benign Het
Mpl T A 4: 118,313,968 (GRCm39) D99V probably damaging Het
Notch3 C T 17: 32,362,719 (GRCm39) G1302D possibly damaging Het
Odaph A G 5: 92,142,749 (GRCm39) I104V probably benign Het
Or10a48 A G 7: 108,424,666 (GRCm39) V180A probably benign Het
Or2a25 A T 6: 42,888,480 (GRCm39) I8F possibly damaging Het
Pde6c G A 19: 38,151,293 (GRCm39) G608S probably damaging Het
Phf20 A G 2: 156,149,374 (GRCm39) probably benign Het
Pkdrej C T 15: 85,702,345 (GRCm39) R1197Q probably damaging Het
Prex2 C T 1: 11,226,528 (GRCm39) H764Y probably benign Het
Rtel1 T C 2: 180,991,727 (GRCm39) F375S probably damaging Het
Spanxn4 T C 12: 62,734,983 (GRCm39) noncoding transcript Het
Taf1 T C X: 100,588,109 (GRCm39) I457T probably benign Het
Tle3 A T 9: 61,314,705 (GRCm39) M233L probably benign Het
Trpv3 T C 11: 73,168,649 (GRCm39) I72T probably benign Het
Vmn1r237 A G 17: 21,534,925 (GRCm39) H216R possibly damaging Het
Xpnpep3 T A 15: 81,311,857 (GRCm39) F188I probably benign Het
Zfp69 G A 4: 120,791,672 (GRCm39) 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
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'- ATGCCCTGTCTATGCCAAGG -3'
(R):5'- CCTAGAATGGTAGTGGCTGC -3'

Sequencing Primer
(F):5'- GTGACGTCATTCACAGTGTCCAG -3'
(R):5'- CTGAGGCTGCCAGGAGAGTAAC -3'
Posted On 2015-06-12