Incidental Mutation 'IGL02073:Csnk1g1'
ID185905
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csnk1g1
Ensembl Gene ENSMUSG00000032384
Gene Namecasein kinase 1, gamma 1
Synonyms9130020E21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.170) question?
Stock #IGL02073
Quality Score
Status
Chromosome9
Chromosomal Location65908924-66045015 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 66002251 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 217 (Y217N)
Ref Sequence ENSEMBL: ENSMUSP00000145947 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034949] [ENSMUST00000117849] [ENSMUST00000130798] [ENSMUST00000205379] [ENSMUST00000206048] [ENSMUST00000206528] [ENSMUST00000206594] [ENSMUST00000207167] [ENSMUST00000208011]
Predicted Effect probably damaging
Transcript: ENSMUST00000034949
AA Change: Y217N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034949
Gene: ENSMUSG00000032384
AA Change: Y217N

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 damaging
Transcript: ENSMUST00000117849
AA Change: Y217N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113160
Gene: ENSMUSG00000032384
AA Change: Y217N

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 damaging
Transcript: ENSMUST00000130798
AA Change: Y217N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146069
Predicted Effect probably damaging
Transcript: ENSMUST00000205379
AA Change: Y217N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000206048
AA Change: Y217N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000206528
AA Change: Y217N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000206594
AA Change: Y217N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000207167
Predicted Effect probably benign
Transcript: ENSMUST00000208011
Coding Region Coverage
Validation Efficiency
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930566N20Rik C A 3: 157,208,402 probably benign Het
6330409D20Rik T G 2: 32,740,686 probably benign Het
Als2cl A G 9: 110,894,339 K659E probably benign Het
Bbx G A 16: 50,202,491 T702I probably damaging Het
Bcas3 A G 11: 85,557,437 D405G probably damaging Het
Brpf3 A G 17: 28,807,396 Y481C probably benign Het
Cyp4f37 G T 17: 32,627,851 V171L possibly damaging Het
Dock8 G A 19: 25,200,986 probably null Het
Extl3 C A 14: 65,076,339 G465W probably damaging Het
Fam208b T C 13: 3,574,721 D1743G probably benign Het
Fbxo10 A G 4: 45,046,349 I587T possibly damaging Het
Fstl5 A C 3: 76,659,652 probably benign Het
Gabbr2 T C 4: 46,667,547 N866S probably benign Het
Gm4871 T A 5: 145,032,578 K44* probably null Het
Hnrnpul1 T C 7: 25,722,341 probably benign Het
Jup A G 11: 100,383,389 probably benign Het
Mccc2 A T 13: 100,000,275 H57Q probably benign Het
Myo1a A T 10: 127,710,225 D239V probably damaging Het
Ncapd3 T A 9: 27,063,316 S695T probably benign Het
Ncor1 A T 11: 62,358,917 S1052T probably damaging Het
Olfr175-ps1 A G 16: 58,823,806 I301T probably benign Het
Olfr250 C T 9: 38,368,307 H244Y probably damaging Het
Olfr834 T A 9: 18,988,325 N112K possibly damaging Het
Pcnx3 A T 19: 5,679,386 I526K probably damaging Het
Pcnx4 A G 12: 72,574,328 D974G possibly damaging Het
Peg3 T C 7: 6,711,002 E407G probably damaging Het
Polk A G 13: 96,504,551 V166A probably damaging Het
Prkar2a A G 9: 108,733,123 I184V probably damaging Het
Ptpa T C 2: 30,443,350 S64P probably damaging Het
Rbsn A G 6: 92,189,359 L768P probably damaging Het
Ripk3 C T 14: 55,786,025 probably null Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sar1b T C 11: 51,789,193 probably benign Het
Slx A T X: 26,534,455 W89R probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Svep1 T C 4: 58,070,104 I2561V probably benign Het
Tm7sf3 A G 6: 146,623,710 L79P possibly damaging Het
Trub1 A T 19: 57,452,947 M1L probably benign Het
Unc80 A G 1: 66,612,227 D1577G possibly damaging Het
Vat1 A T 11: 101,460,579 M312K possibly damaging Het
Vmn1r17 T C 6: 57,360,802 I193V probably benign Het
Vps13b A G 15: 35,875,586 I2706V possibly damaging Het
Wls T C 3: 159,907,253 probably null Het
Zfp955b A G 17: 33,300,590 T11A possibly damaging Het
Other mutations in Csnk1g1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00672:Csnk1g1 APN 9 66007746 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
R4384: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
Posted On2014-05-07