Incidental Mutation 'IGL03172:Csnk1g3'
ID411879
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csnk1g3
Ensembl Gene ENSMUSG00000073563
Gene Namecasein kinase 1, gamma 3
SynonymsC330049O21Rik, 3300002K07Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03172
Quality Score
Status
Chromosome18
Chromosomal Location53862113-53955684 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 53953284 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Methionine at position 420 (I420M)
Ref Sequence ENSEMBL: ENSMUSP00000070259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069597]
Predicted Effect possibly damaging
Transcript: ENSMUST00000069597
AA Change: I420M

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000070259
Gene: ENSMUSG00000073563
AA Change: I420M

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
low complexity region 19 35 N/A INTRINSIC
Pfam:Pkinase 43 304 1.2e-27 PFAM
Pfam:Pkinase_Tyr 43 306 8.9e-16 PFAM
Pfam:CK1gamma_C 329 362 8.7e-9 PFAM
Pfam:CK1gamma_C 358 386 1.2e-12 PFAM
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 a family of serine/threonine protein kinases that phosphorylate caseins and other acidic proteins. A related protein in the African clawed frog participates in the transmission of Wnt/beta-catenin signaling. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,948,176 H528R probably damaging Het
A530053G22Rik A T 6: 60,402,062 noncoding transcript Het
Aagab A G 9: 63,635,394 probably benign Het
Aknad1 A T 3: 108,781,203 I616F possibly damaging Het
Ap2a1 A C 7: 44,904,055 D629E probably benign Het
Apc2 C A 10: 80,313,386 Q1425K probably damaging Het
Asf1b A C 8: 83,967,913 H102P probably benign Het
Celf6 C T 9: 59,582,282 A90V probably damaging Het
Chrna2 A T 14: 66,142,239 Q9L probably benign Het
Eml3 T C 19: 8,939,179 probably benign Het
Epn3 T C 11: 94,491,630 N508S possibly damaging Het
Fam120a T C 13: 48,910,336 Y608C probably damaging Het
Fbn1 A C 2: 125,320,968 C2133G possibly damaging Het
Fhl5 A G 4: 25,211,309 F128L probably damaging Het
Fn1 T C 1: 71,641,262 N428S probably damaging Het
Fxr2 T C 11: 69,649,839 probably null Het
Gabrp T C 11: 33,554,388 Y309C probably damaging Het
Golga2 A G 2: 32,292,156 I50V probably benign Het
Ifi203 C T 1: 173,936,592 G105R possibly damaging Het
Itgav A T 2: 83,765,846 Q201L possibly damaging Het
Jade2 T C 11: 51,825,371 T336A probably damaging Het
Kdm4b A G 17: 56,401,649 D996G probably damaging Het
Me2 A G 18: 73,770,726 I557T probably benign Het
Memo1 A C 17: 74,245,001 L100R probably damaging Het
Mrps2 A G 2: 28,469,806 N225S probably damaging Het
Ndufa2 A G 18: 36,744,225 probably null Het
Olfr130 G T 17: 38,067,384 C71F probably damaging Het
Olfr832 G A 9: 18,945,461 S271N probably benign Het
Pak7 G T 2: 136,098,390 Y501* probably null Het
Pot1b A T 17: 55,695,206 F123I possibly damaging Het
Rev3l T C 10: 39,824,790 V1761A probably benign Het
Samd3 T A 10: 26,230,166 V14E probably damaging Het
Slc4a8 G A 15: 100,799,717 A605T probably benign Het
Smgc A T 15: 91,860,444 D333V probably damaging Het
Spata4 A G 8: 54,602,405 I147V probably benign Het
Ttc23l G A 15: 10,537,566 S206L probably benign Het
Vmn2r73 G A 7: 85,858,287 H606Y probably benign Het
Vsig8 A G 1: 172,560,349 N2S probably damaging Het
Wdr17 A C 8: 54,661,480 I667R probably damaging Het
Yif1b A G 7: 29,238,448 probably null Het
Zbtb5 A T 4: 44,994,003 H460Q possibly damaging Het
Zdhhc21 G A 4: 82,806,327 probably benign Het
Zfp944 A T 17: 22,340,037 H76Q probably damaging Het
Zkscan1 A G 5: 138,094,002 Q146R probably benign Het
Other mutations in Csnk1g3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Csnk1g3 APN 18 53919003 missense probably damaging 1.00
IGL02148:Csnk1g3 APN 18 53953288 missense probably benign 0.11
IGL02379:Csnk1g3 APN 18 53933492 missense probably benign 0.00
IGL02447:Csnk1g3 APN 18 53895870 missense probably benign 0.26
R0153:Csnk1g3 UTSW 18 53918789 splice site probably benign
R0606:Csnk1g3 UTSW 18 53917028 missense probably damaging 1.00
R1399:Csnk1g3 UTSW 18 53895910 missense probably damaging 0.97
R1435:Csnk1g3 UTSW 18 53906674 splice site probably null
R4829:Csnk1g3 UTSW 18 53895823 missense possibly damaging 0.85
R5552:Csnk1g3 UTSW 18 53932283 missense probably benign 0.04
R6305:Csnk1g3 UTSW 18 53932312 nonsense probably null
R6556:Csnk1g3 UTSW 18 53930282 missense possibly damaging 0.82
R7324:Csnk1g3 UTSW 18 53919018 missense probably damaging 1.00
R7401:Csnk1g3 UTSW 18 53930318 missense probably damaging 1.00
R7545:Csnk1g3 UTSW 18 53895825 missense probably damaging 0.97
R7846:Csnk1g3 UTSW 18 53948105 missense probably benign 0.03
R7968:Csnk1g3 UTSW 18 53895654 start gained probably benign
R8215:Csnk1g3 UTSW 18 53948079 missense probably benign 0.04
R8390:Csnk1g3 UTSW 18 53948078 missense probably benign 0.09
R8400:Csnk1g3 UTSW 18 53953288 missense probably benign 0.11
Posted On2016-08-02