Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02809:Cerkl'

360508

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?

Possibly non essential (E-score: 0.308) question?

Stock #

IGL02809

Quality Score

Status

Chromosome

Chromosomal Location

79330543-79456785 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79342202 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 349 (S349P)

Ref Sequence

ENSEMBL: ENSMUSP00000114325 (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

possibly damaging
Transcript: ENSMUST00000143974
AA Change: S349P

PolyPhen 2 Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000114325
Gene: ENSMUSG00000075256
AA Change: S349P

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

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Camkmt	A	T	17: 85,394,648	N180I	probably damaging	Het
Card9	A	G	2: 26,356,864	M324T	probably benign	Het
Cenpf	T	C	1: 189,682,358		probably benign	Het
Ctsj	C	T	13: 61,003,160	S162N	probably damaging	Het
Fancm	A	G	12: 65,121,667	I1601M	possibly damaging	Het
Fpr-rs3	T	A	17: 20,623,963	R305S	probably damaging	Het
Gpatch8	A	G	11: 102,487,590	V178A	unknown	Het
Itga4	A	G	2: 79,280,577	Y253C	probably damaging	Het
Kntc1	T	C	5: 123,776,582	F655S	probably damaging	Het
Manba	A	G	3: 135,547,560	D414G	probably damaging	Het
Nfkbid	C	T	7: 30,425,235	T7I	possibly damaging	Het
Ngly1	G	T	14: 16,281,791	C349F	probably damaging	Het
Palld	T	C	8: 61,515,247	N1095S	probably damaging	Het
Sp100	C	T	1: 85,681,124	R325W	probably damaging	Het
Stxbp4	A	G	11: 90,600,184		probably null	Het
Tle2	C	A	10: 81,586,362		probably null	Het
Tlr13	G	T	X: 106,156,691		probably benign	Het
Ttc32	G	A	12: 9,035,879	R142Q	possibly damaging	Het
Ubap2l	G	A	3: 90,021,246	T526M	probably damaging	Het
Uggt2	T	C	14: 119,090,738	E124G	probably benign	Het
Vmn1r72	A	G	7: 11,670,003	F173L	probably benign	Het
Xab2	T	C	8: 3,610,175	S851G	probably benign	Het
Zfp808	A	G	13: 62,173,180	K741R	probably benign	Het

Other mutations in Cerkl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02027:Cerkl	APN	2	79341286	unclassified	probably benign
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
R8470:Cerkl	UTSW	2	79342407	missense	probably benign	0.08
Z1176:Cerkl	UTSW	2	79368765	missense	probably benign	0.01

Posted On

2015-12-18