Incidental Mutation 'R4384:Csnk1g1'
ID 326118
Institutional Source Beutler Lab
Gene Symbol Csnk1g1
Ensembl Gene ENSMUSG00000032384
Gene Name casein kinase 1, gamma 1
Synonyms 9130020E21Rik
MMRRC Submission 042002-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # R4384 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 65816235-65952297 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65927190 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 119 (V119A)
Ref Sequence ENSEMBL: ENSMUSP00000145744 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034949] [ENSMUST00000117849] [ENSMUST00000130798] [ENSMUST00000136773] [ENSMUST00000205379] [ENSMUST00000206048] [ENSMUST00000206969] [ENSMUST00000206594] [ENSMUST00000206528]
AlphaFold Q8BTH8
Predicted Effect probably benign
Transcript: ENSMUST00000034949
AA Change: V405A

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000034949
Gene: ENSMUSG00000032384
AA Change: V405A

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 damaging
Transcript: ENSMUST00000136773
AA Change: V119A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000205379
Predicted Effect probably benign
Transcript: ENSMUST00000205884
Predicted Effect probably benign
Transcript: ENSMUST00000206048
AA Change: V405A

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect possibly damaging
Transcript: ENSMUST00000206969
AA Change: V142A

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000206594
AA Change: V405A

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000206528
Meta Mutation Damage Score 0.0998 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 97% (56/58)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acer2 T A 4: 86,792,805 (GRCm39) V27E possibly damaging Het
Adam23 T C 1: 63,605,787 (GRCm39) Y624H probably damaging Het
Arhgef10 T A 8: 14,980,157 (GRCm39) C132* probably null Het
Boc A T 16: 44,311,545 (GRCm39) L726H probably damaging Het
Brip1 A T 11: 86,039,255 (GRCm39) D426E possibly damaging Het
Cadps2 T A 6: 23,412,987 (GRCm39) Q654L probably benign Het
Calr3 T A 8: 73,182,008 (GRCm39) D120V probably damaging Het
Cntnap3 A G 13: 64,896,274 (GRCm39) Y1067H probably damaging Het
Ddias G A 7: 92,507,431 (GRCm39) T828I probably damaging Het
Dennd4c A G 4: 86,729,687 (GRCm39) Y763C probably damaging Het
Dscam T A 16: 96,510,416 (GRCm39) I948F probably damaging Het
E030018B13Rik A G 7: 63,569,141 (GRCm39) probably benign Het
E2f8 G A 7: 48,516,847 (GRCm39) T844I possibly damaging Het
Eps8 T A 6: 137,476,590 (GRCm39) H603L probably benign Het
Esrrg G A 1: 187,775,908 (GRCm39) C122Y probably damaging Het
Frmd4a C T 2: 4,599,374 (GRCm39) R467* probably null Het
Gad2 G A 2: 22,575,422 (GRCm39) V509I probably benign Het
Gpat4 A G 8: 23,664,602 (GRCm39) I446T probably benign Het
Klhl12 T G 1: 134,415,392 (GRCm39) D435E probably damaging Het
Luc7l T C 17: 26,498,936 (GRCm39) probably benign Het
Marchf2 C A 17: 33,915,167 (GRCm39) M142I probably benign Het
Marf1 T A 16: 13,960,505 (GRCm39) Y513F possibly damaging Het
Mdm2 T C 10: 117,532,344 (GRCm39) D114G possibly damaging Het
Med1 G A 11: 98,043,688 (GRCm39) probably benign Het
Meikin C T 11: 54,308,613 (GRCm39) Q404* probably null Het
Myh9 A T 15: 77,675,912 (GRCm39) probably benign Het
Mylip T C 13: 45,543,434 (GRCm39) M1T probably null Het
Ncapg2 T C 12: 116,403,497 (GRCm39) probably null Het
Nmd3 T C 3: 69,631,731 (GRCm39) probably benign Het
Nwd2 T A 5: 63,963,914 (GRCm39) L1166H probably damaging Het
Or1j13 A G 2: 36,370,010 (GRCm39) L44P probably damaging Het
Or8b48 T C 9: 38,493,349 (GRCm39) Y259H probably damaging Het
Rubcn A G 16: 32,677,272 (GRCm39) I71T probably damaging Het
Rwdd3 T C 3: 120,952,406 (GRCm39) probably benign Het
Ryr2 T C 13: 11,620,119 (GRCm39) E3826G probably damaging Het
Sdad1 T C 5: 92,446,116 (GRCm39) Q273R probably benign Het
Sdha A T 13: 74,475,104 (GRCm39) I579K possibly damaging Het
Sema4d A G 13: 51,856,919 (GRCm39) L771P probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc6a11 A G 6: 114,224,688 (GRCm39) E624G possibly damaging Het
Tada3 G T 6: 113,347,340 (GRCm39) R117S probably damaging Het
Tm9sf3 T C 19: 41,236,372 (GRCm39) M130V probably damaging Het
Trpc1 C A 9: 95,614,161 (GRCm39) M34I probably benign Het
Trpc4ap A G 2: 155,482,427 (GRCm39) V521A possibly damaging Het
Trpm2 A G 10: 77,753,559 (GRCm39) V1315A probably benign Het
Tvp23a A G 16: 10,246,546 (GRCm39) S80P probably benign Het
Usp54 A T 14: 20,600,153 (GRCm39) probably null Het
Vmn2r27 A G 6: 124,201,115 (GRCm39) Y281H probably benign Het
Vwf T A 6: 125,632,079 (GRCm39) I37N unknown Het
Zfp329 G A 7: 12,545,584 (GRCm39) probably benign Het
Zfp616 G T 11: 73,974,005 (GRCm39) L91F possibly 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
R4366:Csnk1g1 UTSW 9 65,927,135 (GRCm39) missense probably benign 0.02
R4382: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'- GGCCTGCAGGAACACTAATG -3'
(R):5'- GGCAGGTTAACTCAATACAGAAACC -3'

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