Incidental Mutation 'R4366:Csnk1g1'
ID 325757
Institutional Source Beutler Lab
Gene Symbol Csnk1g1
Ensembl Gene ENSMUSG00000032384
Gene Name casein kinase 1, gamma 1
Synonyms 9130020E21Rik
MMRRC Submission 041114-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # R4366 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 65816235-65952297 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65927135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 101 (T101A)
Ref Sequence ENSEMBL: ENSMUSP00000145744 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034949] [ENSMUST00000117849] [ENSMUST00000130798] [ENSMUST00000136773] [ENSMUST00000205379] [ENSMUST00000206048] [ENSMUST00000206594] [ENSMUST00000206969] [ENSMUST00000206528]
AlphaFold Q8BTH8
Predicted Effect probably benign
Transcript: ENSMUST00000034949
AA Change: T387A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034949
Gene: ENSMUSG00000032384
AA Change: T387A

DomainStartEndE-ValueType
Pfam:Pkinase 44 302 2.5e-27 PFAM
Pfam:Pkinase_Tyr 44 308 1.5e-14 PFAM
Pfam:CK1gamma_C 331 429 2.8e-35 PFAM
low complexity region 434 440 N/A INTRINSIC
low complexity region 442 453 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117849
SMART Domains Protein: ENSMUSP00000113160
Gene: ENSMUSG00000032384

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 44 309 2.3e-14 PFAM
Pfam:Pkinase 44 313 1.5e-35 PFAM
Pfam:CK1gamma_C 331 392 4e-20 PFAM
low complexity region 397 403 N/A INTRINSIC
low complexity region 414 424 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130798
Predicted Effect probably benign
Transcript: ENSMUST00000136773
AA Change: T101A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect probably benign
Transcript: ENSMUST00000205379
Predicted Effect probably benign
Transcript: ENSMUST00000205884
Predicted Effect probably benign
Transcript: ENSMUST00000206048
AA Change: T387A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000206594
AA Change: T387A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000206969
AA Change: T124A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000206528
Meta Mutation Damage Score 0.0642 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.7%
Validation Efficiency 95% (57/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the casein kinase I gene family. This family is comprised of serine/threonine kinases that phosphorylate acidic proteins such as caseins. The encoded kinase plays a role in cell cycle checkpoint arrest in response to stalled replication forks by phosphorylating Claspin. A mutation in this gene may be associated with non-syndromic early-onset epilepsy (NSEOE). [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf5 A C 17: 43,752,860 (GRCm39) T396P probably damaging Het
Apob A T 12: 8,066,083 (GRCm39) I4318F possibly damaging Het
Apol7c T G 15: 77,410,589 (GRCm39) D119A probably benign Het
App G T 16: 84,853,321 (GRCm39) D252E unknown Het
C4a T A 17: 35,033,885 (GRCm39) noncoding transcript Het
Cacna1b T C 2: 24,592,632 (GRCm39) Y515C probably damaging Het
Cacna1f G T X: 7,476,213 (GRCm39) A123S probably damaging Het
Cldn6 G C 17: 23,900,494 (GRCm39) A153P probably benign Het
Cmya5 T C 13: 93,228,464 (GRCm39) N2208S probably benign Het
Ddx46 T A 13: 55,811,049 (GRCm39) D544E probably benign Het
Dmxl1 T A 18: 50,011,084 (GRCm39) C1080* probably null Het
Dst T C 1: 34,290,959 (GRCm39) S3335P probably damaging Het
Efnb3 T C 11: 69,446,771 (GRCm39) K313R probably damaging Het
Elf2 G A 3: 51,215,570 (GRCm39) Q47* probably null Het
Epc2 A G 2: 49,437,566 (GRCm39) K657E possibly damaging Het
Ephx4 A G 5: 107,551,679 (GRCm39) probably benign Het
Ereg T C 5: 91,234,659 (GRCm39) I24T probably benign Het
Evc2 C A 5: 37,496,013 (GRCm39) A41D possibly damaging Het
Fkbp15 A G 4: 62,254,651 (GRCm39) V283A probably benign Het
Flrt3 T C 2: 140,502,327 (GRCm39) T434A probably damaging Het
Gm572 A G 4: 148,739,322 (GRCm39) D50G possibly damaging Het
Hecw1 C T 13: 14,490,749 (GRCm39) D748N probably damaging Het
Hivep3 A C 4: 119,953,286 (GRCm39) H534P possibly damaging Het
Hspa4l C A 3: 40,721,241 (GRCm39) probably null Het
Ipo7 T C 7: 109,628,919 (GRCm39) M63T possibly damaging Het
Ipo7 A T 7: 109,647,423 (GRCm39) T614S possibly damaging Het
Krt87 T G 15: 101,385,395 (GRCm39) M326L probably benign Het
Mbd5 T A 2: 49,162,978 (GRCm39) N261K probably damaging Het
Mcam T A 9: 44,045,994 (GRCm39) L3Q probably damaging Het
Mcoln3 C A 3: 145,846,247 (GRCm39) T519K possibly damaging Het
Mideas C T 12: 84,203,245 (GRCm39) G886S probably benign Het
Mrgprx1 C A 7: 47,670,941 (GRCm39) A269S probably damaging Het
Mypn T C 10: 63,028,487 (GRCm39) E192G probably benign Het
Nup205 C A 6: 35,168,962 (GRCm39) P397Q probably benign Het
Obsl1 A C 1: 75,464,693 (GRCm39) L1576R possibly damaging Het
Ofcc1 A G 13: 40,168,937 (GRCm39) S817P probably benign Het
Or6c210 A T 10: 129,496,400 (GRCm39) M242L probably benign Het
Or8b12c A T 9: 37,715,486 (GRCm39) H93L probably benign Het
Pcdhgb7 A G 18: 37,887,125 (GRCm39) Y765C possibly damaging Het
Pde7a A G 3: 19,365,026 (GRCm39) probably null Het
Phip C T 9: 82,782,922 (GRCm39) probably benign Het
Rhbdl2 T A 4: 123,703,728 (GRCm39) M1K probably null Het
Ripor2 C T 13: 24,905,694 (GRCm39) P947S probably benign Het
Sf3a3 A G 4: 124,618,932 (GRCm39) T298A probably benign Het
Slc25a29 C T 12: 108,797,097 (GRCm39) probably benign Het
Spinkl T G 18: 44,307,650 (GRCm39) T4P possibly damaging Het
Stk33 G A 7: 108,879,002 (GRCm39) S449L probably benign Het
Suz12 T A 11: 79,892,988 (GRCm39) probably benign Het
Timp2 T A 11: 118,201,497 (GRCm39) I124F probably damaging Het
Tlr1 C T 5: 65,083,180 (GRCm39) D466N probably benign Het
Tmem200b A G 4: 131,649,781 (GRCm39) I234V possibly damaging Het
Ubr1 C A 2: 120,801,084 (GRCm39) probably benign Het
Usp33 C A 3: 152,074,149 (GRCm39) Q332K probably benign Het
Zfr A G 15: 12,156,416 (GRCm39) E634G probably damaging Het
Other mutations in Csnk1g1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00672:Csnk1g1 APN 9 65,915,028 (GRCm39) missense probably damaging 1.00
IGL02073:Csnk1g1 APN 9 65,909,533 (GRCm39) missense probably damaging 1.00
IGL02452:Csnk1g1 APN 9 65,915,067 (GRCm39) missense probably damaging 1.00
R0448:Csnk1g1 UTSW 9 65,888,230 (GRCm39) missense possibly damaging 0.92
R0482:Csnk1g1 UTSW 9 65,917,751 (GRCm39) missense probably damaging 1.00
R0702:Csnk1g1 UTSW 9 65,917,775 (GRCm39) missense probably damaging 1.00
R0726:Csnk1g1 UTSW 9 65,939,637 (GRCm39) splice site probably benign
R1736:Csnk1g1 UTSW 9 65,927,197 (GRCm39) splice site probably null
R1815:Csnk1g1 UTSW 9 65,939,606 (GRCm39) missense probably damaging 1.00
R2063:Csnk1g1 UTSW 9 65,909,512 (GRCm39) missense probably damaging 1.00
R4382:Csnk1g1 UTSW 9 65,927,190 (GRCm39) missense probably damaging 1.00
R4384:Csnk1g1 UTSW 9 65,927,190 (GRCm39) missense probably damaging 1.00
R4385:Csnk1g1 UTSW 9 65,927,190 (GRCm39) missense probably damaging 1.00
R6783:Csnk1g1 UTSW 9 65,880,794 (GRCm39) missense probably damaging 1.00
R7877:Csnk1g1 UTSW 9 65,906,830 (GRCm39) critical splice donor site probably null
R8430:Csnk1g1 UTSW 9 65,906,803 (GRCm39) missense probably damaging 1.00
R8477:Csnk1g1 UTSW 9 65,909,555 (GRCm39) missense probably damaging 1.00
R8726:Csnk1g1 UTSW 9 65,909,553 (GRCm39) missense probably damaging 1.00
R8895:Csnk1g1 UTSW 9 65,915,109 (GRCm39) critical splice donor site probably null
R9022:Csnk1g1 UTSW 9 65,917,854 (GRCm39) critical splice donor site probably null
R9033:Csnk1g1 UTSW 9 65,915,070 (GRCm39) missense probably damaging 1.00
Z1177:Csnk1g1 UTSW 9 65,920,032 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CAGGTTCCAAACAGAAGGCC -3'
(R):5'- CCAAGATTGTAGGGCAGGTTAAC -3'

Sequencing Primer
(F):5'- CTGCAGGAACACTAATGTACTCGG -3'
(R):5'- TGTAGGGCAGGTTAACTCAATAC -3'
Posted On 2015-07-06