Incidental Mutation 'IGL01653:Cerk'
ID 102874
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cerk
Ensembl Gene ENSMUSG00000035891
Gene Name ceramide kinase
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.073) question?
Stock # IGL01653
Quality Score
Status
Chromosome 15
Chromosomal Location 86139128-86186141 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 86149351 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 290 (Y290*)
Ref Sequence ENSEMBL: ENSMUSP00000038203 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044332] [ENSMUST00000156546]
AlphaFold Q8K4Q7
Predicted Effect probably null
Transcript: ENSMUST00000044332
AA Change: Y290*
SMART Domains Protein: ENSMUSP00000038203
Gene: ENSMUSG00000035891
AA Change: Y290*

DomainStartEndE-ValueType
Blast:PH 8 126 9e-39 BLAST
Pfam:DAGK_cat 132 274 1.1e-31 PFAM
low complexity region 356 367 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150767
Predicted Effect probably benign
Transcript: ENSMUST00000156546
SMART Domains Protein: ENSMUSP00000119472
Gene: ENSMUSG00000035891

DomainStartEndE-ValueType
low complexity region 51 62 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157732
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CERK converts ceramide to ceramide 1-phosphate (C1P), a sphingolipid metabolite. Both CERK and C1P have been implicated in various cellular processes, including proliferation, apoptosis, phagocytosis, and inflammation (Kim et al., 2006 [PubMed 16488390]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit reduced body weight, increased susceptibility to infection and decreased neutrophil numbers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933421I07Rik T C 7: 42,446,974 D119G probably damaging Het
5430403G16Rik A C 5: 109,677,316 Y89* probably null Het
Apol7c A G 15: 77,526,300 C149R probably damaging Het
Arfgef1 G A 1: 10,159,908 R1235* probably null Het
Bpifb4 A G 2: 153,944,783 D285G probably damaging Het
Cep192 T A 18: 67,852,972 H1682Q possibly damaging Het
Cyld A T 8: 88,741,370 I544F probably damaging Het
Dcp1a T C 14: 30,505,571 S134P possibly damaging Het
Epha6 A C 16: 59,839,303 N817K probably benign Het
Ephb4 A G 5: 137,365,741 probably benign Het
Fcgr3 A T 1: 171,059,280 L25Q probably damaging Het
Heatr3 A G 8: 88,144,617 I83V probably benign Het
Hormad1 T A 3: 95,578,297 N265K possibly damaging Het
Kpna1 A G 16: 36,020,192 T201A probably benign Het
Krt6b T A 15: 101,679,114 T182S probably damaging Het
Macc1 A G 12: 119,450,353 K755E probably damaging Het
Med12l C T 3: 59,261,893 T1568M probably damaging Het
Muc4 G T 16: 32,761,348 probably null Het
Myt1l T C 12: 29,910,771 S1028P unknown Het
Nhlrc2 C T 19: 56,570,850 R256C probably benign Het
Olfr1230 T A 2: 89,297,127 T48S probably benign Het
Olfr1441 G A 19: 12,422,372 R21H probably benign Het
Pfkfb4 G A 9: 108,999,134 R79H probably damaging Het
Piezo2 T C 18: 63,182,833 probably benign Het
Pramel5 C T 4: 144,273,859 R49H probably benign Het
Ralgapb T A 2: 158,462,159 S613T possibly damaging Het
Ryr1 T C 7: 29,078,597 E2158G probably damaging Het
Scgb2b19 T A 7: 33,279,728 Y43F probably damaging Het
Slc17a6 A G 7: 51,668,022 T468A possibly damaging Het
Slc36a1 A G 11: 55,228,321 D374G possibly damaging Het
Wdtc1 T C 4: 133,295,232 D601G probably damaging Het
Other mutations in Cerk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01414:Cerk APN 15 86159142 missense probably benign 0.02
IGL01732:Cerk APN 15 86146316 missense possibly damaging 0.68
IGL03107:Cerk APN 15 86142813 missense probably benign 0.00
resnick UTSW 15 86156668 splice site probably null
BB007:Cerk UTSW 15 86144719 missense possibly damaging 0.83
BB017:Cerk UTSW 15 86144719 missense possibly damaging 0.83
IGL02837:Cerk UTSW 15 86144695 nonsense probably null
R0318:Cerk UTSW 15 86151565 missense possibly damaging 0.89
R0517:Cerk UTSW 15 86156648 missense probably damaging 1.00
R1052:Cerk UTSW 15 86149364 missense possibly damaging 0.95
R1640:Cerk UTSW 15 86149400 missense probably damaging 0.98
R2049:Cerk UTSW 15 86142808 missense probably benign
R2885:Cerk UTSW 15 86142883 missense probably damaging 1.00
R3887:Cerk UTSW 15 86149331 missense possibly damaging 0.95
R3931:Cerk UTSW 15 86155110 nonsense probably null
R4033:Cerk UTSW 15 86155027 missense possibly damaging 0.47
R4234:Cerk UTSW 15 86142788 missense probably benign 0.00
R4945:Cerk UTSW 15 86156601 missense probably benign 0.44
R5742:Cerk UTSW 15 86141572 missense probably damaging 1.00
R6160:Cerk UTSW 15 86142773 missense probably benign 0.43
R6309:Cerk UTSW 15 86156668 splice site probably null
R7002:Cerk UTSW 15 86156594 missense possibly damaging 0.56
R7360:Cerk UTSW 15 86159126 missense probably damaging 1.00
R7930:Cerk UTSW 15 86144719 missense possibly damaging 0.83
R9406:Cerk UTSW 15 86144586 missense possibly damaging 0.80
X0067:Cerk UTSW 15 86146346 missense possibly damaging 0.62
Posted On 2014-01-21