Incidental Mutation 'IGL01946:Cerkl'
ID180959
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: 0.402) question?
Stock #IGL01946
Quality Score
Status
Chromosome2
Chromosomal Location79330543-79456785 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 79393020 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 119 (D119G)
Ref Sequence ENSEMBL: ENSMUSP00000114325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000143974]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000099974
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123859
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143602
Predicted Effect probably benign
Transcript: ENSMUST00000143974
AA Change: D119G

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000114325
Gene: ENSMUSG00000075256
AA Change: D119G

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: ENSMUST00000145766
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152413
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152549
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153602
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,570,479 E343K possibly damaging Het
Abcc9 T C 6: 142,626,037 I1087V probably benign Het
Bcam A C 7: 19,760,117 Y416* probably null Het
Bhlhe22 T A 3: 18,055,796 C337S probably damaging Het
Cog6 T C 3: 53,002,404 probably benign Het
Dchs1 T C 7: 105,759,105 D1840G probably damaging Het
Dhx16 G T 17: 35,885,504 M521I probably benign Het
Dnaja2 A G 8: 85,546,700 I196T probably damaging Het
Fbxw7 T C 3: 84,904,062 Y165H possibly damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm3371 A G 14: 44,408,721 Y96H probably damaging Het
Gm884 T A 11: 103,612,933 R560S probably benign Het
H2-T10 G A 17: 36,120,716 A82V possibly damaging Het
Hydin A G 8: 110,490,718 T1413A possibly damaging Het
Krt23 T A 11: 99,492,839 M76L possibly damaging Het
Lipe A T 7: 25,383,276 M504K possibly damaging Het
Lta4h T A 10: 93,471,370 probably benign Het
Ltbp2 T C 12: 84,830,748 T348A probably damaging Het
Mybpc2 C A 7: 44,509,898 probably benign Het
Olfr550 T C 7: 102,578,527 probably null Het
Olfr582 T A 7: 103,042,150 S219T probably damaging Het
Pdp2 G A 8: 104,594,192 M224I probably benign Het
Pimreg C T 11: 72,044,978 probably benign Het
Pld1 A T 3: 28,124,617 S887C probably damaging Het
Ppp1r3g G A 13: 35,968,995 A133T possibly damaging Het
Prpf8 G A 11: 75,499,992 G1323D probably damaging Het
Rab3ip A G 10: 116,937,395 probably null Het
Rpain A G 11: 70,970,532 H9R possibly damaging Het
Scin T C 12: 40,060,491 probably benign Het
Serpinb6d A G 13: 33,671,386 T348A probably benign Het
Smad3 A G 9: 63,757,553 L42P probably damaging Het
Smr3a C T 5: 88,008,155 probably benign Het
Vmn2r13 G A 5: 109,174,219 T204I probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zfhx3 A G 8: 108,933,929 N1272D probably damaging 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
IGL02027:Cerkl APN 2 79341286 unclassified probably benign
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