Mutagenetix > Incidental Mutation

Incidental Mutation 'R0076:Cerkl'

17275

Institutional Source

Beutler Lab

Gene Symbol

Cerkl

Ensembl Gene

ENSMUSG00000075256

Gene Name

ceramide kinase-like

Synonyms

Rp26

MMRRC Submission

038363-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.388) question?

Stock #

R0076 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

79162835-79259332 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79173633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 259 (S259T)

Ref Sequence

ENSEMBL: ENSMUSP00000114325 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000143974] [ENSMUST00000156731]

AlphaFold

A2AQH1

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: S259T

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114325
Gene: ENSMUSG00000075256
AA Change: S259T

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

Meta Mutation Damage Score

0.0996

Coding Region Coverage

1x: 89.9%
3x: 87.5%
10x: 81.6%
20x: 72.8%

Validation Efficiency

92% (83/90)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	G	7: 119,972,908 (GRCm39)		probably benign	Het
Acp3	A	G	9: 104,201,417 (GRCm39)		probably benign	Het
Ada	T	A	2: 163,569,523 (GRCm39)		probably benign	Het
Ankrd17	T	A	5: 90,392,265 (GRCm39)	K1693*	probably null	Het
Arhgef38	T	A	3: 132,866,507 (GRCm39)	H210L	possibly damaging	Het
Car10	G	A	11: 93,381,423 (GRCm39)	E129K	possibly damaging	Het
Cask	A	G	X: 13,544,513 (GRCm39)		probably benign	Het
Cd19	T	C	7: 126,010,034 (GRCm39)	D406G	probably damaging	Het
Cd93	T	C	2: 148,284,056 (GRCm39)	D430G	probably benign	Het
Cds1	T	C	5: 101,965,706 (GRCm39)		probably benign	Het
Cfap91	G	A	16: 38,123,046 (GRCm39)	Q661*	probably null	Het
Cog8	T	C	8: 107,780,765 (GRCm39)	I164M	possibly damaging	Het
Col4a1	G	A	8: 11,268,713 (GRCm39)	P1009L	probably damaging	Het
Col9a1	G	A	1: 24,276,578 (GRCm39)		probably null	Het
Dcc	G	A	18: 71,454,117 (GRCm39)	Q1241*	probably null	Het
Dock3	A	C	9: 106,788,685 (GRCm39)		probably benign	Het
Dus1l	A	T	11: 120,683,634 (GRCm39)		probably benign	Het
Dvl2	G	A	11: 69,898,926 (GRCm39)	E438K	probably damaging	Het
Eif3g	A	G	9: 20,809,049 (GRCm39)	F85S	probably damaging	Het
Fam234b	A	G	6: 135,204,224 (GRCm39)	M456V	probably benign	Het
Fbxo47	G	A	11: 97,748,481 (GRCm39)		probably benign	Het
Fyb2	A	G	4: 104,802,661 (GRCm39)	T188A	possibly damaging	Het
Gm11437	T	C	11: 84,039,462 (GRCm39)	T288A	possibly damaging	Het
Gm5546	T	A	3: 104,260,448 (GRCm39)		noncoding transcript	Het
Gmfb	C	A	14: 47,054,912 (GRCm39)	A11S	probably benign	Het
Gpat4	G	A	8: 23,680,721 (GRCm39)		probably benign	Het
Ifitm6	T	A	7: 140,595,920 (GRCm39)	R124S	possibly damaging	Het
Il17rd	T	A	14: 26,816,811 (GRCm39)	L172Q	probably damaging	Het
Il4	A	T	11: 53,504,741 (GRCm39)	L13Q	probably damaging	Het
Kif2b	A	G	11: 91,466,735 (GRCm39)	M516T	probably damaging	Het
Kmt2a	A	G	9: 44,741,356 (GRCm39)		probably benign	Het
Mark1-ps1	T	A	17: 54,254,905 (GRCm39)		noncoding transcript	Het
Mndal	G	T	1: 173,702,013 (GRCm39)	C96*	probably null	Het
Mroh1	T	C	15: 76,335,340 (GRCm39)	S1365P	probably benign	Het
Mrpl12	A	G	11: 120,376,268 (GRCm39)		probably benign	Het
Mthfsd	C	A	8: 121,825,478 (GRCm39)	V270F	probably benign	Het
Nbas	T	A	12: 13,374,337 (GRCm39)	V555D	probably damaging	Het
Pcdhb16	T	C	18: 37,611,412 (GRCm39)	V124A	probably damaging	Het
Pla2g10	T	A	16: 13,533,382 (GRCm39)	Y131F	possibly damaging	Het
Plec	T	C	15: 76,075,614 (GRCm39)		probably benign	Het
Polr2b	T	A	5: 77,474,408 (GRCm39)	V415E	possibly damaging	Het
Pou6f1	G	A	15: 100,485,717 (GRCm39)	Q106*	probably null	Het
Ptprd	T	C	4: 75,865,276 (GRCm39)		probably benign	Het
Rad54b	G	A	4: 11,609,480 (GRCm39)		probably benign	Het
Rspo1	G	A	4: 124,885,190 (GRCm39)	R22Q	probably benign	Het
Scn7a	A	G	2: 66,544,381 (GRCm39)	V370A	probably benign	Het
Sec1	A	G	7: 45,328,315 (GRCm39)	V244A	probably damaging	Het
Serac1	A	G	17: 6,115,212 (GRCm39)		probably benign	Het
Slco2b1	A	T	7: 99,334,708 (GRCm39)	Y254*	probably null	Het
Steap3	G	A	1: 120,155,460 (GRCm39)	R500C	probably damaging	Het
Stk10	A	G	11: 32,553,722 (GRCm39)	T580A	probably benign	Het
Tpo	C	T	12: 30,154,022 (GRCm39)	G228R	probably damaging	Het
Tpx2	T	C	2: 152,735,603 (GRCm39)	F744L	probably damaging	Het
Ube3b	G	T	5: 114,546,278 (GRCm39)		probably null	Het
Vmn2r84	A	G	10: 130,230,062 (GRCm39)	S17P	probably damaging	Het
Vps13d	A	T	4: 144,891,264 (GRCm39)		probably benign	Het
Zfp532	T	A	18: 65,818,698 (GRCm39)	S851R	probably benign	Het
Zfp623	G	A	15: 75,819,058 (GRCm39)	E5K	probably benign	Het

Other mutations in Cerkl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00915:Cerkl	APN	2	79,171,843 (GRCm39)	missense	probably benign	0.00
IGL01330:Cerkl	APN	2	79,199,125 (GRCm39)	missense	possibly damaging	0.90
IGL01468:Cerkl	APN	2	79,173,559 (GRCm39)	critical splice donor site	probably null
IGL01946:Cerkl	APN	2	79,223,364 (GRCm39)	missense	probably benign	0.19
IGL02027:Cerkl	APN	2	79,171,630 (GRCm39)	unclassified	probably benign
IGL02809:Cerkl	APN	2	79,172,546 (GRCm39)	missense	possibly damaging	0.54
IGL03293:Cerkl	APN	2	79,172,719 (GRCm39)	missense	probably damaging	0.98
R0453:Cerkl	UTSW	2	79,172,795 (GRCm39)	missense	probably benign	0.25
R0918:Cerkl	UTSW	2	79,163,973 (GRCm39)	missense	probably benign	0.00
R1533:Cerkl	UTSW	2	79,171,701 (GRCm39)	missense	possibly damaging	0.94
R4003:Cerkl	UTSW	2	79,259,138 (GRCm39)	missense	possibly damaging	0.86
R5078:Cerkl	UTSW	2	79,223,352 (GRCm39)	missense	probably benign	0.29
R5093:Cerkl	UTSW	2	79,163,867 (GRCm39)	missense	probably damaging	1.00
R5431:Cerkl	UTSW	2	79,171,679 (GRCm39)	missense	probably damaging	1.00
R5522:Cerkl	UTSW	2	79,223,328 (GRCm39)	missense	probably benign	0.44
R6249:Cerkl	UTSW	2	79,199,122 (GRCm39)	missense	probably damaging	1.00
R7036:Cerkl	UTSW	2	79,171,722 (GRCm39)	missense	probably benign	0.03
R7201:Cerkl	UTSW	2	79,163,934 (GRCm39)	missense	probably benign	0.00
R7326:Cerkl	UTSW	2	79,162,949 (GRCm39)	missense	probably benign	0.37
R7343:Cerkl	UTSW	2	79,259,104 (GRCm39)	missense	probably damaging	1.00
R7833:Cerkl	UTSW	2	79,171,724 (GRCm39)	missense	probably benign	0.01
R7874:Cerkl	UTSW	2	79,168,981 (GRCm39)	missense	probably damaging	1.00
R8190:Cerkl	UTSW	2	79,163,901 (GRCm39)	missense	probably benign	0.17
R8333:Cerkl	UTSW	2	79,168,922 (GRCm39)	missense	possibly damaging	0.65
R8470:Cerkl	UTSW	2	79,172,751 (GRCm39)	missense	probably benign	0.08
R9223:Cerkl	UTSW	2	79,171,674 (GRCm39)	missense	probably damaging	0.99
R9659:Cerkl	UTSW	2	79,223,322 (GRCm39)	missense	possibly damaging	0.51
Z1176:Cerkl	UTSW	2	79,199,109 (GRCm39)	missense	probably benign	0.01

Posted On

2013-01-20