Incidental Mutation 'IGL02027:Cerkl'
ID184235
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cerkl
Ensembl Gene ENSMUSG00000075256
Gene Nameceramide kinase-like
SynonymsRp26
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.360) question?
Stock #IGL02027
Quality Score
Status
Chromosome2
Chromosomal Location79330543-79456785 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 79341286 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000143974] [ENSMUST00000156731]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000099974
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123859
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143602
Predicted Effect probably benign
Transcript: ENSMUST00000143974
SMART Domains Protein: ENSMUSP00000114325
Gene: ENSMUSG00000075256

DomainStartEndE-ValueType
low complexity region 12 28 N/A INTRINSIC
low complexity region 70 80 N/A INTRINSIC
Pfam:DAGK_cat 152 293 2.6e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152549
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153602
Predicted Effect probably benign
Transcript: ENSMUST00000156731
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156830
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 was initially identified as a locus (RP26) associated with an autosomal recessive form of retinitis pigmentosa (arRP) disease. This gene encodes a protein with ceramide kinase-like domains, however, the protein does not phosphorylate ceramide and its target substrate is currently unknown. This protein may be a negative regulator of apoptosis in photoreceptor cells. Mutations in this gene cause a form of retinitis pigmentosa characterized by autosomal recessive cone and rod dystrophy (arCRD). Alternative splicing of this gene results in multiple transcript variants encoding different isoforms and non-coding transcripts.[provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit retinal apoptosis and decreased amplitudes and increased implicit time of oscillatory potentials. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adipor1 A G 1: 134,431,185 T312A probably benign Het
Begain T G 12: 109,034,309 K384Q possibly damaging Het
C2cd6 T C 1: 59,060,604 I393V probably benign Het
Catsperz A G 19: 6,925,296 V5A probably benign Het
Cbx1 T A 11: 96,801,489 F67L probably damaging Het
Ctgf A G 10: 24,596,409 S117G probably damaging Het
Cubn G T 2: 13,287,594 D3259E probably damaging Het
Cyp2u1 A G 3: 131,297,951 Y307H probably damaging Het
Dcaf6 A C 1: 165,424,341 D71E probably damaging Het
Dclk3 A T 9: 111,467,843 K152* probably null Het
Fcgbp G A 7: 28,075,204 D68N probably damaging Het
Gm6576 A G 15: 27,025,866 noncoding transcript Het
Has2 T C 15: 56,668,171 T383A probably damaging Het
Htr1f T A 16: 64,926,321 K203* probably null Het
Il1f9 A T 2: 24,192,785 I191L probably benign Het
Iqgap3 T C 3: 88,087,342 I116T possibly damaging Het
Itga1 C T 13: 114,990,055 probably null Het
Kif5b T C 18: 6,209,089 D891G possibly damaging Het
Krt74 T C 15: 101,756,794 noncoding transcript Het
Lama3 A G 18: 12,516,513 K1776E probably damaging Het
Lats1 T C 10: 7,712,948 S1110P probably benign Het
Lipo3 T A 19: 33,580,519 K158* probably null Het
Lrrc9 T A 12: 72,470,334 probably benign Het
Met A G 6: 17,563,727 probably benign Het
Mmp13 A G 9: 7,272,955 Y105C probably damaging Het
Mtus1 T C 8: 40,993,601 E1151G probably damaging Het
Nov T C 15: 54,747,934 V155A probably damaging Het
Nptx1 T C 11: 119,544,596 D298G possibly damaging Het
Pdlim1 T C 19: 40,243,466 N156S probably benign Het
Pdzk1 A G 3: 96,854,673 probably benign Het
Pex5 A G 6: 124,398,888 S448P probably benign Het
Polr3e G T 7: 120,930,963 R124L probably damaging Het
Ppp2r2c C T 5: 36,952,472 R392C probably damaging Het
Prpf4b T C 13: 34,889,571 I543T probably benign Het
Prr27 A G 5: 87,843,443 S305G possibly damaging Het
Repin1 A G 6: 48,596,473 H56R probably damaging Het
Ryr2 A T 13: 11,597,112 L408H probably damaging Het
Sbf2 T A 7: 110,461,141 Q205H probably damaging Het
Sgo2b G A 8: 63,926,829 P990S probably benign Het
Slc33a1 G T 3: 63,948,141 P361Q probably damaging Het
Tmem98 T C 11: 80,815,657 probably benign Het
Ttc25 C T 11: 100,569,902 T495M probably damaging Het
Vmn1r16 T C 6: 57,323,059 T193A possibly damaging Het
Vmn1r5 T A 6: 56,985,655 I105K probably damaging Het
Zfp473 A T 7: 44,738,038 probably benign Het
Other mutations in Cerkl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00915:Cerkl APN 2 79341499 missense probably benign 0.00
IGL01330:Cerkl APN 2 79368781 missense possibly damaging 0.90
IGL01468:Cerkl APN 2 79343215 critical splice donor site probably null
IGL01946:Cerkl APN 2 79393020 missense probably benign 0.19
IGL02809:Cerkl APN 2 79342202 missense possibly damaging 0.54
IGL03293:Cerkl APN 2 79342375 missense probably damaging 0.98
R0076:Cerkl UTSW 2 79343289 missense possibly damaging 0.93
R0453:Cerkl UTSW 2 79342451 missense probably benign 0.25
R0918:Cerkl UTSW 2 79333629 missense probably benign 0.00
R1533:Cerkl UTSW 2 79341357 missense possibly damaging 0.94
R4003:Cerkl UTSW 2 79428794 missense possibly damaging 0.86
R5078:Cerkl UTSW 2 79393008 missense probably benign 0.29
R5093:Cerkl UTSW 2 79333523 missense probably damaging 1.00
R5431:Cerkl UTSW 2 79341335 missense probably damaging 1.00
R5522:Cerkl UTSW 2 79392984 missense probably benign 0.44
R6249:Cerkl UTSW 2 79368778 missense probably damaging 1.00
R7036:Cerkl UTSW 2 79341378 missense probably benign 0.03
R7201:Cerkl UTSW 2 79333590 missense probably benign 0.00
R7326:Cerkl UTSW 2 79332605 missense probably benign 0.37
R7343:Cerkl UTSW 2 79428760 missense probably damaging 1.00
R7833:Cerkl UTSW 2 79341380 missense probably benign 0.01
R7874:Cerkl UTSW 2 79338637 missense probably damaging 1.00
R8190:Cerkl UTSW 2 79333557 missense probably benign 0.17
R8333:Cerkl UTSW 2 79338578 missense possibly damaging 0.65
Z1176:Cerkl UTSW 2 79368765 missense probably benign 0.01
Posted On2014-05-07