Incidental Mutation 'R4767:Csnk1d'
ID 366236
Institutional Source Beutler Lab
Gene Symbol Csnk1d
Ensembl Gene ENSMUSG00000025162
Gene Name casein kinase 1, delta
MMRRC Submission 042408-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4767 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 120961749-120991330 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120969128 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 318 (S318P)
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: S318P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000018274
Gene: ENSMUSG00000025162
AA Change: S318P

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: S318P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000070721
Gene: ENSMUSG00000025162
AA Change: S318P

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: ENSMUST00000131375
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139267
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141071
Predicted Effect probably benign
Transcript: ENSMUST00000146837
SMART Domains Protein: ENSMUSP00000115055
Gene: ENSMUSG00000025162

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

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189381
Meta Mutation Damage Score 0.0577 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 95% (62/65)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 T C 11: 46,138,977 (GRCm38) probably null Het
Aig1 T C 10: 13,801,858 (GRCm38) N130S probably damaging Het
Alx1 A T 10: 103,025,186 (GRCm38) Y160* probably null Het
Ap4e1 T C 2: 127,060,438 (GRCm38) I755T probably benign Het
Apoc3 C A 9: 46,234,535 (GRCm38) E21* probably null Het
Atp9b G T 18: 80,753,070 (GRCm38) H919Q probably damaging Het
Cemip T G 7: 83,973,306 (GRCm38) Y555S probably damaging Het
Cic T C 7: 25,271,600 (GRCm38) V252A possibly damaging Het
Cracr2a A T 6: 127,611,507 (GRCm38) N210Y probably damaging Het
Crocc2 G A 1: 93,202,856 (GRCm38) R953Q possibly damaging Het
Ddx21 A G 10: 62,591,972 (GRCm38) L384P probably damaging Het
Dnah5 C T 15: 28,270,474 (GRCm38) T974I probably benign Het
Duox1 A G 2: 122,333,441 (GRCm38) Y863C possibly damaging Het
Epg5 C A 18: 78,023,283 (GRCm38) P2133T possibly damaging Het
Ephb6 A T 6: 41,614,185 (GRCm38) Q92L possibly damaging Het
Ercc4 C A 16: 13,122,095 (GRCm38) A73D probably damaging Het
Eva1c A T 16: 90,904,347 (GRCm38) Y290F probably damaging Het
Galnt5 T A 2: 58,028,144 (GRCm38) V798E possibly damaging Het
Haus4 T C 14: 54,548,885 (GRCm38) E149G probably damaging Het
Ighv1-13 A G 12: 114,630,936 (GRCm38) Y86C unknown Het
Igkv9-120 G T 6: 68,050,367 (GRCm38) R88S possibly damaging Het
Lama3 T C 18: 12,500,563 (GRCm38) V1584A probably benign Het
Lamb1 A G 12: 31,308,011 (GRCm38) E1119G probably damaging Het
Lao1 T C 4: 118,967,988 (GRCm38) L335P probably damaging Het
Mindy4 A G 6: 55,260,565 (GRCm38) D375G probably damaging Het
Myo5a T C 9: 75,144,076 (GRCm38) I317T probably damaging Het
Nhlrc2 G A 19: 56,570,466 (GRCm38) V128I probably benign Het
Nlrp2 C T 7: 5,328,024 (GRCm38) D458N probably damaging Het
Olfr107 T A 17: 37,406,200 (GRCm38) C217* probably null Het
Olfr1497 A T 19: 13,795,045 (GRCm38) C189S probably damaging Het
Olfr347 A T 2: 36,734,323 (GRCm38) M1L probably benign Het
Olfr76 G T 19: 12,119,936 (GRCm38) H247N probably damaging Het
Olfr938 T C 9: 39,078,692 (GRCm38) T18A possibly damaging Het
Parp8 T C 13: 116,868,536 (GRCm38) H663R probably damaging Het
Pax6 T C 2: 105,695,360 (GRCm38) S377P probably benign Het
Pi15 A G 1: 17,602,766 (GRCm38) D63G probably benign Het
Plaa A G 4: 94,586,258 (GRCm38) probably benign Het
Rbm5 C A 9: 107,745,213 (GRCm38) W546C probably damaging Het
Rnf123 C A 9: 108,052,089 (GRCm38) C1257F probably damaging Het
Rnf185 A G 11: 3,432,551 (GRCm38) S45P possibly damaging Het
Sh3bp1 T C 15: 78,904,497 (GRCm38) S241P possibly damaging Het
Slfn8 G A 11: 83,003,197 (GRCm38) A872V possibly damaging Het
Smoc1 G A 12: 81,104,773 (GRCm38) probably null Het
Sox14 A T 9: 99,875,633 (GRCm38) W18R probably damaging Het
Spata31d1a T C 13: 59,701,155 (GRCm38) E1053G probably benign Het
Syne1 T A 10: 5,344,866 (GRCm38) K1246* probably null Het
Tbrg4 A C 11: 6,620,909 (GRCm38) S188A probably benign Het
Thnsl2 A T 6: 71,134,295 (GRCm38) D196E probably damaging Het
Tmem266 C T 9: 55,380,741 (GRCm38) T34I probably damaging Het
Tmem59l C A 8: 70,486,098 (GRCm38) R111L probably benign Het
Tpr T C 1: 150,430,529 (GRCm38) probably benign Het
Trpc6 T C 9: 8,643,686 (GRCm38) S491P probably damaging Het
Tspan10 A T 11: 120,446,166 (GRCm38) N254I probably damaging Het
Ubox5 A T 2: 130,591,894 (GRCm38) L511Q probably damaging Het
Vmn1r183 TATCCATC TATC 7: 24,055,106 (GRCm38) probably null Het
Vmn2r4 C T 3: 64,390,976 (GRCm38) C577Y probably damaging Het
Vmn2r86 A T 10: 130,455,737 (GRCm38) M53K probably benign Het
Zfp948 T A 17: 21,588,307 (GRCm38) I587N possibly damaging Het
Other mutations in Csnk1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01689:Csnk1d APN 11 120,971,567 (GRCm38) missense probably benign 0.06
IGL01905:Csnk1d APN 11 120,973,963 (GRCm38) missense probably damaging 1.00
IGL02476:Csnk1d APN 11 120,972,512 (GRCm38) missense probably damaging 1.00
R1971:Csnk1d UTSW 11 120,972,448 (GRCm38) missense possibly damaging 0.95
R2245:Csnk1d UTSW 11 120,972,403 (GRCm38) missense probably damaging 1.00
R4472:Csnk1d UTSW 11 120,964,974 (GRCm38) unclassified probably benign
R4809:Csnk1d UTSW 11 120,963,842 (GRCm38) unclassified probably benign
R4870:Csnk1d UTSW 11 120,983,188 (GRCm38) intron probably benign
R6522:Csnk1d UTSW 11 120,971,623 (GRCm38) missense probably damaging 1.00
R6657:Csnk1d UTSW 11 120,964,994 (GRCm38) missense possibly damaging 0.75
RF009:Csnk1d UTSW 11 120,971,627 (GRCm38) missense possibly damaging 0.81
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-12-21