Incidental Mutation 'IGL02452:Csnk1g1'
ID293696
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: 0.169) question?
Stock #IGL02452
Quality Score
Status
Chromosome9
Chromosomal Location65908924-66045015 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 66007785 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 242 (M242K)
Ref Sequence ENSEMBL: ENSMUSP00000145887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034949] [ENSMUST00000117849] [ENSMUST00000130798] [ENSMUST00000136773] [ENSMUST00000205379] [ENSMUST00000206048] [ENSMUST00000206528] [ENSMUST00000206594] [ENSMUST00000206969] [ENSMUST00000208011]
Predicted Effect probably damaging
Transcript: ENSMUST00000034949
AA Change: M242K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000034949
Gene: ENSMUSG00000032384
AA Change: M242K

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: M242K

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113160
Gene: ENSMUSG00000032384
AA Change: M242K

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: M242K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000136773
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146069
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153391
Predicted Effect probably damaging
Transcript: ENSMUST00000205379
AA Change: M242K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect unknown
Transcript: ENSMUST00000205884
AA Change: M15K
Predicted Effect probably damaging
Transcript: ENSMUST00000206048
AA Change: M242K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000206528
AA Change: M242K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000206594
AA Change: M242K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000206969
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm C A 3: 153,941,970 V11F probably damaging Het
Alk A T 17: 71,902,625 Y941* probably null Het
Armc4 C T 18: 7,129,461 E906K probably damaging Het
Blm A T 7: 80,503,377 probably null Het
Blvrb T C 7: 27,459,340 V55A possibly damaging Het
Cdh23 T A 10: 60,317,942 T2288S probably damaging Het
Cyp2c29 G A 19: 39,290,847 G96D possibly damaging Het
Cyp2d26 T A 15: 82,792,626 H173L probably benign Het
Cyp2g1 T A 7: 26,811,446 S131T probably benign Het
Dupd1 G A 14: 21,702,922 T52I probably damaging Het
Dzip3 T A 16: 48,938,537 probably benign Het
Espl1 T C 15: 102,299,839 S427P probably damaging Het
Fasn A T 11: 120,808,180 D2424E probably benign Het
Flrt2 G A 12: 95,779,483 M198I probably benign Het
Gen1 A T 12: 11,242,575 S404R probably benign Het
Gm11596 A T 11: 99,792,980 C105S unknown Het
Gm8765 A T 13: 50,703,077 H917L probably damaging Het
Hdlbp A T 1: 93,417,511 V714D probably damaging Het
Igkv4-80 A G 6: 69,016,832 V25A probably benign Het
Igkv8-27 C T 6: 70,171,941 W76* probably null Het
Ikzf1 T C 11: 11,748,545 L132P probably damaging Het
Kcna6 C A 6: 126,738,480 C482F possibly damaging Het
Lhx9 A T 1: 138,841,842 L47Q probably damaging Het
Lrp4 T A 2: 91,474,002 D175E probably damaging Het
Lrrtm3 T C 10: 64,088,036 K451E probably damaging Het
Mcm9 C T 10: 53,541,557 V17M probably damaging Het
Mios T A 6: 8,222,492 S475R probably benign Het
Mmp24 C T 2: 155,815,788 R533C probably damaging Het
Moxd1 C T 10: 24,282,752 P435S probably damaging Het
Mta2 T A 19: 8,950,306 I497N probably benign Het
Mtus2 T C 5: 148,077,663 V422A probably benign Het
Ndufaf1 A T 2: 119,656,426 F260Y probably damaging Het
Nfasc C T 1: 132,620,924 probably null Het
Nid1 A T 13: 13,508,720 T1128S probably benign Het
Olfr583 A G 7: 103,051,931 D211G probably benign Het
Pcdh12 G A 18: 38,281,693 P793L probably benign Het
Pclo A T 5: 14,676,966 probably benign Het
Prpf31 T A 7: 3,634,186 N161K possibly damaging Het
Prpf6 T G 2: 181,649,085 N656K probably benign Het
Ptprn T A 1: 75,258,169 H258L probably benign Het
Rab19 A G 6: 39,389,798 T216A probably benign Het
Ryr3 A C 2: 112,833,990 L1652W probably damaging Het
Six2 A C 17: 85,685,378 S232R possibly damaging Het
Spag17 T C 3: 100,027,391 V663A probably benign Het
Spag5 A G 11: 78,304,623 N252S probably benign Het
Sptb C T 12: 76,609,036 probably null Het
Synj1 A G 16: 90,961,365 probably benign Het
Tekt2 T C 4: 126,324,852 H36R possibly damaging Het
Tjp1 A T 7: 65,312,655 M1258K probably damaging Het
Txnrd3 T C 6: 89,674,795 *502Q probably null 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
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
R8430:Csnk1g1 UTSW 9 65999521 missense probably damaging 1.00
Z1177:Csnk1g1 UTSW 9 66012750 missense probably benign 0.01
Posted On2015-04-16