Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01330:Cerkl'

74486

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cerkl

Ensembl Gene

ENSMUSG00000075256

Gene Name

ceramide kinase-like

Synonyms

Rp26

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.166) question?

Stock #

IGL01330

Quality Score

Status

Chromosome

Chromosomal Location

79330543-79456785 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79368781 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 155 (I155T)

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: ENSMUST00000130499

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143602

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143974
AA Change: I155T

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114325
Gene: ENSMUSG00000075256
AA Change: I155T

Domain	Start	End	E-Value	Type
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

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	A	G	19: 31,920,951	E245G	possibly damaging	Het
Acap2	T	C	16: 31,154,677	I43V	probably damaging	Het
Acot11	T	C	4: 106,771,484	T36A	probably benign	Het
Bsn	A	G	9: 108,110,913		probably benign	Het
Capza2	T	C	6: 17,654,171		probably null	Het
Dclre1b	T	C	3: 103,803,126	T490A	probably benign	Het
Efcab6	G	A	15: 84,044,300	S31L	probably benign	Het
Faim	T	A	9: 98,992,535	M67K	probably damaging	Het
Frem2	T	G	3: 53,655,241	Q615P	possibly damaging	Het
Fut9	A	G	4: 25,619,791	V341A	possibly damaging	Het
Grhpr	T	C	4: 44,986,375	F142L	probably benign	Het
Kif14	T	C	1: 136,476,374	V532A	probably damaging	Het
Klk1b9	T	A	7: 43,978,443	L55*	probably null	Het
Kmt2e	C	A	5: 23,497,948	P1042Q	possibly damaging	Het
Mpped1	T	A	15: 83,800,119	I114N	probably damaging	Het
Mtap	C	A	4: 89,171,223	T148K	probably damaging	Het
Muc16	G	A	9: 18,508,507	A8347V	possibly damaging	Het
Nhs	A	T	X: 161,841,453	S967T	probably damaging	Het
Npas3	A	G	12: 54,048,819	Y344C	probably damaging	Het
Olfr1431	T	C	19: 12,210,040	V158A	possibly damaging	Het
Olfr635	A	T	7: 103,980,142		probably benign	Het
Olfr876	T	A	9: 37,804,220	F103Y	probably damaging	Het
Osmr	A	G	15: 6,842,028	Y303H	probably damaging	Het
Pcdhb8	A	T	18: 37,357,578	I770F	probably benign	Het
Pde4a	C	T	9: 21,192,438		probably benign	Het
Prkacb	T	G	3: 146,751,511	N79T	probably damaging	Het
Psd3	A	C	8: 67,697,178	Y1222D	probably damaging	Het
Rrbp1	T	A	2: 143,968,618	E847D	possibly damaging	Het
Sbno1	A	T	5: 124,391,979	D912E	probably damaging	Het
Sgsm3	T	A	15: 81,010,852		probably benign	Het
Shcbp1	T	C	8: 4,736,372	T577A	probably benign	Het
Siglec1	A	T	2: 131,075,005	L1110*	probably null	Het
Siglec1	A	T	2: 131,083,536	V335D	probably damaging	Het
Slc4a11	A	G	2: 130,687,682	I335T	probably benign	Het
Smchd1	A	C	17: 71,436,788	S461A	probably benign	Het
Spata16	C	T	3: 26,914,715	P415S	probably damaging	Het
Tdrd12	G	A	7: 35,505,034	S217L	possibly damaging	Het
Tmem156	C	T	5: 65,080,182	R45H	probably benign	Het
Vmn2r90	T	C	17: 17,733,280	S569P	probably benign	Het
Vps13c	T	A	9: 67,964,108	V3220E	probably damaging	Het
Wdr59	T	C	8: 111,481,933	N439S	possibly damaging	Het
Zfp568	A	G	7: 30,022,277	M215V	probably benign	Het
Zgrf1	T	A	3: 127,584,007	V967E	probably damaging	Het
Zkscan16	A	G	4: 58,956,483	D255G	possibly damaging	Het

Other mutations in Cerkl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00915:Cerkl	APN	2	79341499	missense	probably benign	0.00
IGL01468:Cerkl	APN	2	79343215	critical splice donor site	probably null
IGL01946:Cerkl	APN	2	79393020	missense	probably benign	0.19
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
R7916:Cerkl	UTSW	2	79341380	missense	probably benign	0.01
R7957:Cerkl	UTSW	2	79338637	missense	probably damaging	1.00

Posted On

2013-10-07