Incidental Mutation 'IGL01689:Csnk1d'
ID 104053
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csnk1d
Ensembl Gene ENSMUSG00000025162
Gene Name casein kinase 1, delta
Synonyms 1200006A05Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01689
Quality Score
Status
Chromosome 11
Chromosomal Location 120849816-120882156 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 120862393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 295 (F295L)
Ref Sequence ENSEMBL: ENSMUSP00000070721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018274] [ENSMUST00000070575]
AlphaFold Q9DC28
Predicted Effect probably benign
Transcript: ENSMUST00000018274
AA Change: F295L

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000018274
Gene: ENSMUSG00000025162
AA Change: F295L

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 9 273 3.7e-18 PFAM
Pfam:Pkinase 9 277 1.8e-28 PFAM
low complexity region 299 314 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000070575
AA Change: F295L

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000070721
Gene: ENSMUSG00000025162
AA Change: F295L

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 9 273 1.6e-18 PFAM
Pfam:Pkinase 9 280 2.8e-41 PFAM
low complexity region 299 314 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139267
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141071
Predicted Effect probably benign
Transcript: ENSMUST00000146837
SMART Domains Protein: ENSMUSP00000115055
Gene: ENSMUSG00000025162

DomainStartEndE-ValueType
Pfam:Pkinase 2 55 6.6e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154483
SMART Domains Protein: ENSMUSP00000117472
Gene: ENSMUSG00000025162

DomainStartEndE-ValueType
low complexity region 12 25 N/A INTRINSIC
Pfam:Pkinase_Tyr 27 210 2.5e-12 PFAM
Pfam:Pkinase 28 218 3.4e-21 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the casein kinase I (CKI) family of serine/threonine protein kinases. A highly similar human protein regulates an array of cellular processes by influencing the Wnt and hedgehog signaling pathways. The encoded protein may also be involved in the regulation of apoptosis, circadian rhythm, microtubule dynamics, chromosome segregation, and p53-mediated effects on growth. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice die 1.5 to 5 days after birth and fetal weight is significantly smaller than controls. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox4 A G 1: 58,284,320 (GRCm39) probably benign Het
Arhgap10 A G 8: 78,137,763 (GRCm39) probably benign Het
Armc9 T C 1: 86,202,140 (GRCm39) V766A probably benign Het
Asxl2 A T 12: 3,546,425 (GRCm39) Q403L probably benign Het
Cd244a G A 1: 171,410,462 (GRCm39) probably benign Het
Cdc34b A G 11: 94,633,345 (GRCm39) K182E probably benign Het
Gm11541 A G 11: 94,595,020 (GRCm39) V16A unknown Het
Kdr T C 5: 76,097,500 (GRCm39) D1252G probably benign Het
Kif14 A G 1: 136,447,380 (GRCm39) D1395G probably damaging Het
Lars1 T A 18: 42,350,014 (GRCm39) Q930L probably benign Het
Lypd5 A G 7: 24,052,054 (GRCm39) probably benign Het
Or2w1b G A 13: 21,300,243 (GRCm39) C127Y probably damaging Het
Paics T C 5: 77,109,138 (GRCm39) probably null Het
Pcnt A G 10: 76,247,487 (GRCm39) V1015A probably damaging Het
Thada C T 17: 84,754,116 (GRCm39) S285N possibly damaging Het
Tlr1 T C 5: 65,083,122 (GRCm39) D485G probably damaging Het
Vmn2r66 T C 7: 84,657,033 (GRCm39) N124S probably damaging Het
Zfyve26 T C 12: 79,330,827 (GRCm39) D464G possibly damaging Het
Other mutations in Csnk1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01905:Csnk1d APN 11 120,864,789 (GRCm39) missense probably damaging 1.00
IGL02476:Csnk1d APN 11 120,863,338 (GRCm39) missense probably damaging 1.00
R1971:Csnk1d UTSW 11 120,863,274 (GRCm39) missense possibly damaging 0.95
R2245:Csnk1d UTSW 11 120,863,229 (GRCm39) missense probably damaging 1.00
R4472:Csnk1d UTSW 11 120,855,800 (GRCm39) unclassified probably benign
R4767:Csnk1d UTSW 11 120,859,954 (GRCm39) missense probably benign
R4809:Csnk1d UTSW 11 120,854,668 (GRCm39) unclassified probably benign
R4870:Csnk1d UTSW 11 120,874,014 (GRCm39) intron probably benign
R6522:Csnk1d UTSW 11 120,862,449 (GRCm39) missense probably damaging 1.00
R6657:Csnk1d UTSW 11 120,855,820 (GRCm39) missense possibly damaging 0.75
RF009:Csnk1d UTSW 11 120,862,453 (GRCm39) missense possibly damaging 0.81
Posted On 2014-01-21