Incidental Mutation 'R4384:Csnk1g1'
ID326118
Institutional Source Beutler Lab
Gene Symbol Csnk1g1
Ensembl Gene ENSMUSG00000032384
Gene Namecasein kinase 1, gamma 1
Synonyms9130020E21Rik
MMRRC Submission 042002-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.239) question?
Stock #R4384 (G1)
Quality Score225
Status Validated
Chromosome9
Chromosomal Location65908924-66045015 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 66019908 bp
ZygosityHeterozygous
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] [ENSMUST00000206528] [ENSMUST00000206594] [ENSMUST00000206969]
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 probably benign
Transcript: ENSMUST00000206528
Predicted Effect probably benign
Transcript: ENSMUST00000206594
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)
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: 86,874,568 V27E possibly damaging Het
Adam23 T C 1: 63,566,628 Y624H probably damaging Het
Arhgef10 T A 8: 14,930,157 C132* probably null Het
Boc A T 16: 44,491,182 L726H probably damaging Het
Brip1 A T 11: 86,148,429 D426E possibly damaging Het
Cadps2 T A 6: 23,412,988 Q654L probably benign Het
Calr3 T A 8: 72,428,164 D120V probably damaging Het
Cntnap3 A G 13: 64,748,460 Y1067H probably damaging Het
Ddias G A 7: 92,858,223 T828I probably damaging Het
Dennd4c A G 4: 86,811,450 Y763C probably damaging Het
Dscam T A 16: 96,709,216 I948F probably damaging Het
E030018B13Rik A G 7: 63,919,393 probably benign Het
E2f8 G A 7: 48,867,099 T844I possibly damaging Het
Eps8 T A 6: 137,499,592 H603L probably benign Het
Esrrg G A 1: 188,043,711 C122Y probably damaging Het
Frmd4a C T 2: 4,594,563 R467* probably null Het
Gad2 G A 2: 22,685,410 V509I probably benign Het
Gpat4 A G 8: 23,174,586 I446T probably benign Het
Klhl12 T G 1: 134,487,654 D435E probably damaging Het
Luc7l T C 17: 26,279,962 probably benign Het
March2 C A 17: 33,696,193 M142I probably benign Het
Marf1 T A 16: 14,142,641 Y513F possibly damaging Het
Mdm2 T C 10: 117,696,439 D114G possibly damaging Het
Med1 G A 11: 98,152,862 probably benign Het
Meikin C T 11: 54,417,787 Q404* probably null Het
Myh9 A T 15: 77,791,712 probably benign Het
Mylip T C 13: 45,389,958 M1T probably null Het
Ncapg2 T C 12: 116,439,877 probably null Het
Nmd3 T C 3: 69,724,398 probably benign Het
Nwd2 T A 5: 63,806,571 L1166H probably damaging Het
Olfr341 A G 2: 36,479,998 L44P probably damaging Het
Olfr912 T C 9: 38,582,053 Y259H probably damaging Het
Rubcn A G 16: 32,856,902 I71T probably damaging Het
Rwdd3 T C 3: 121,158,757 probably benign Het
Ryr2 T C 13: 11,605,233 E3826G probably damaging Het
Sdad1 T C 5: 92,298,257 Q273R probably benign Het
Sdha A T 13: 74,326,985 I579K possibly damaging Het
Sema4d A G 13: 51,702,883 L771P probably damaging Het
Shroom3 G T 5: 92,943,086 V1151F probably damaging Het
Slc6a11 A G 6: 114,247,727 E624G possibly damaging Het
Tada3 G T 6: 113,370,379 R117S probably damaging Het
Tm9sf3 T C 19: 41,247,933 M130V probably damaging Het
Trpc1 C A 9: 95,732,108 M34I probably benign Het
Trpc4ap A G 2: 155,640,507 V521A possibly damaging Het
Trpm2 A G 10: 77,917,725 V1315A probably benign Het
Tvp23a A G 16: 10,428,682 S80P probably benign Het
Usp54 A T 14: 20,550,085 probably null Het
Vmn2r27 A G 6: 124,224,156 Y281H probably benign Het
Vwf T A 6: 125,655,116 I37N unknown Het
Zfp329 G A 7: 12,811,657 probably benign Het
Zfp616 G T 11: 74,083,179 L91F possibly damaging Het
Other mutations in Csnk1g1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00672:Csnk1g1 APN 9 66007746 missense probably damaging 1.00
IGL02073:Csnk1g1 APN 9 66002251 missense probably damaging 1.00
IGL02452:Csnk1g1 APN 9 66007785 missense probably damaging 1.00
R0448:Csnk1g1 UTSW 9 65980948 missense possibly damaging 0.92
R0482:Csnk1g1 UTSW 9 66010469 missense probably damaging 1.00
R0702:Csnk1g1 UTSW 9 66010493 missense probably damaging 1.00
R0726:Csnk1g1 UTSW 9 66032355 splice site probably benign
R1736:Csnk1g1 UTSW 9 66019915 splice site probably null
R1815:Csnk1g1 UTSW 9 66032324 missense probably damaging 1.00
R2063:Csnk1g1 UTSW 9 66002230 missense probably damaging 1.00
R4366:Csnk1g1 UTSW 9 66019853 missense probably benign 0.02
R4382:Csnk1g1 UTSW 9 66019908 missense probably damaging 1.00
R4385:Csnk1g1 UTSW 9 66019908 missense probably damaging 1.00
R6783:Csnk1g1 UTSW 9 65973512 missense probably damaging 1.00
R7877:Csnk1g1 UTSW 9 65999548 critical splice donor site probably null
R7960:Csnk1g1 UTSW 9 65999548 critical splice donor site probably null
Z1177:Csnk1g1 UTSW 9 66012750 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 On2015-07-06