Incidental Mutation 'IGL02476:Csnk1d'
ID 294952
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 # IGL02476
Quality Score
Status
Chromosome 11
Chromosomal Location 120849816-120882156 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120863338 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 201 (Y201H)
Ref Sequence ENSEMBL: ENSMUSP00000070721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018274] [ENSMUST00000070575]
AlphaFold Q9DC28
Predicted Effect probably damaging
Transcript: ENSMUST00000018274
AA Change: Y201H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018274
Gene: ENSMUSG00000025162
AA Change: Y201H

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 damaging
Transcript: ENSMUST00000070575
AA Change: Y201H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070721
Gene: ENSMUSG00000025162
AA Change: Y201H

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 unknown
Transcript: ENSMUST00000154483
AA Change: Y205H
SMART Domains Protein: ENSMUSP00000117472
Gene: ENSMUSG00000025162
AA Change: Y205H

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp T A 1: 74,320,683 (GRCm39) probably benign Het
Birc6 A G 17: 75,003,386 (GRCm39) E4752G possibly damaging Het
Chd1 C T 17: 15,954,535 (GRCm39) P468S probably damaging Het
Cnot3 A G 7: 3,661,067 (GRCm39) D556G probably benign Het
Dhtkd1 A G 2: 5,935,717 (GRCm39) S132P possibly damaging Het
Dhx58 G T 11: 100,593,090 (GRCm39) Q206K probably benign Het
Dio1 C A 4: 107,149,574 (GRCm39) V195F probably damaging Het
Dio3 T C 12: 110,245,916 (GRCm39) V84A probably benign Het
Dnai4 T A 4: 102,944,545 (GRCm39) I3L possibly damaging Het
Extl3 T C 14: 65,314,693 (GRCm39) K163R probably benign Het
Fat2 A T 11: 55,201,950 (GRCm39) S375T probably damaging Het
Fbrs A G 7: 127,086,841 (GRCm39) D73G probably damaging Het
Fnip1 A G 11: 54,390,393 (GRCm39) probably benign Het
Frmpd4 A G X: 166,280,851 (GRCm39) V343A probably damaging Het
Gcc1 T C 6: 28,420,468 (GRCm39) D283G probably benign Het
Ghr T C 15: 3,349,528 (GRCm39) D550G probably damaging Het
Glycam1 G A 15: 103,471,307 (GRCm39) probably benign Het
Gpatch8 A G 11: 102,369,417 (GRCm39) S1374P probably damaging Het
Grm1 A T 10: 10,565,197 (GRCm39) M1037K probably benign Het
Gtpbp3 T C 8: 71,945,242 (GRCm39) L438P probably damaging Het
Ifi205 G T 1: 173,842,627 (GRCm39) N356K probably damaging Het
Ifi206 A G 1: 173,309,132 (GRCm39) L288P probably benign Het
Ift57 T C 16: 49,584,252 (GRCm39) V291A probably benign Het
Kif13a A C 13: 46,938,772 (GRCm39) C166G probably damaging Het
Lypd6 A G 2: 50,080,740 (GRCm39) T143A possibly damaging Het
Mtus2 G A 5: 148,014,748 (GRCm39) A514T probably benign Het
Neu2 T C 1: 87,524,674 (GRCm39) W220R probably damaging Het
Notch3 T C 17: 32,377,612 (GRCm39) S155G possibly damaging Het
Nrxn2 A G 19: 6,505,015 (GRCm39) E286G probably damaging Het
Onecut3 A G 10: 80,349,724 (GRCm39) E406G probably benign Het
Oog2 T A 4: 143,921,799 (GRCm39) D236E probably benign Het
Pck1 A G 2: 173,000,075 (GRCm39) H502R probably benign Het
Pld1 A G 3: 28,102,188 (GRCm39) Y313C probably damaging Het
Rhox3f A T X: 36,763,192 (GRCm39) probably benign Het
Rpl34 A G 3: 130,520,613 (GRCm39) probably benign Het
Sema4c T C 1: 36,595,031 (GRCm39) K31E probably damaging Het
Septin11 T C 5: 93,296,443 (GRCm39) probably null Het
Slc4a9 T A 18: 36,668,498 (GRCm39) probably null Het
Snrnp200 T A 2: 127,059,408 (GRCm39) S434T probably benign Het
Snx13 A T 12: 35,136,940 (GRCm39) I134F probably damaging Het
Syt2 T C 1: 134,675,369 (GRCm39) S407P probably benign Het
Tbc1d19 T C 5: 54,046,755 (GRCm39) probably null Het
Tbc1d32 G T 10: 56,074,638 (GRCm39) Q192K possibly damaging Het
Ubr4 T A 4: 139,148,560 (GRCm39) C1681* probably null Het
Vmn1r43 T A 6: 89,847,043 (GRCm39) I148F possibly damaging Het
Vwa8 T C 14: 79,162,781 (GRCm39) V187A possibly damaging Het
Other mutations in Csnk1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01689:Csnk1d APN 11 120,862,393 (GRCm39) missense probably benign 0.06
IGL01905:Csnk1d APN 11 120,864,789 (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 2015-04-16