Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01653:Cerk'

102874

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cerk

Ensembl Gene

ENSMUSG00000035891

Gene Name

ceramide kinase

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

IGL01653

Quality Score

Status

Chromosome

Chromosomal Location

86139128-86186141 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 86149351 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 290 (Y290*)

Ref Sequence

ENSEMBL: ENSMUSP00000038203 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044332] [ENSMUST00000156546]

AlphaFold

Q8K4Q7

Predicted Effect

probably null
Transcript: ENSMUST00000044332
AA Change: Y290*

SMART Domains

Protein: ENSMUSP00000038203
Gene: ENSMUSG00000035891
AA Change: Y290*

Domain	Start	End	E-Value	Type
Blast:PH	8	126	9e-39	BLAST
Pfam:DAGK_cat	132	274	1.1e-31	PFAM
low complexity region	356	367	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150767

Predicted Effect

probably benign
Transcript: ENSMUST00000156546

SMART Domains

Protein: ENSMUSP00000119472
Gene: ENSMUSG00000035891

Domain	Start	End	E-Value	Type
low complexity region	51	62	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157732

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CERK converts ceramide to ceramide 1-phosphate (C1P), a sphingolipid metabolite. Both CERK and C1P have been implicated in various cellular processes, including proliferation, apoptosis, phagocytosis, and inflammation (Kim et al., 2006 [PubMed 16488390]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit reduced body weight, increased susceptibility to infection and decreased neutrophil numbers. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933421I07Rik	T	C	7: 42,446,974	D119G	probably damaging	Het
5430403G16Rik	A	C	5: 109,677,316	Y89*	probably null	Het
Apol7c	A	G	15: 77,526,300	C149R	probably damaging	Het
Arfgef1	G	A	1: 10,159,908	R1235*	probably null	Het
Bpifb4	A	G	2: 153,944,783	D285G	probably damaging	Het
Cep192	T	A	18: 67,852,972	H1682Q	possibly damaging	Het
Cyld	A	T	8: 88,741,370	I544F	probably damaging	Het
Dcp1a	T	C	14: 30,505,571	S134P	possibly damaging	Het
Epha6	A	C	16: 59,839,303	N817K	probably benign	Het
Ephb4	A	G	5: 137,365,741		probably benign	Het
Fcgr3	A	T	1: 171,059,280	L25Q	probably damaging	Het
Heatr3	A	G	8: 88,144,617	I83V	probably benign	Het
Hormad1	T	A	3: 95,578,297	N265K	possibly damaging	Het
Kpna1	A	G	16: 36,020,192	T201A	probably benign	Het
Krt6b	T	A	15: 101,679,114	T182S	probably damaging	Het
Macc1	A	G	12: 119,450,353	K755E	probably damaging	Het
Med12l	C	T	3: 59,261,893	T1568M	probably damaging	Het
Muc4	G	T	16: 32,761,348		probably null	Het
Myt1l	T	C	12: 29,910,771	S1028P	unknown	Het
Nhlrc2	C	T	19: 56,570,850	R256C	probably benign	Het
Olfr1230	T	A	2: 89,297,127	T48S	probably benign	Het
Olfr1441	G	A	19: 12,422,372	R21H	probably benign	Het
Pfkfb4	G	A	9: 108,999,134	R79H	probably damaging	Het
Piezo2	T	C	18: 63,182,833		probably benign	Het
Pramel5	C	T	4: 144,273,859	R49H	probably benign	Het
Ralgapb	T	A	2: 158,462,159	S613T	possibly damaging	Het
Ryr1	T	C	7: 29,078,597	E2158G	probably damaging	Het
Scgb2b19	T	A	7: 33,279,728	Y43F	probably damaging	Het
Slc17a6	A	G	7: 51,668,022	T468A	possibly damaging	Het
Slc36a1	A	G	11: 55,228,321	D374G	possibly damaging	Het
Wdtc1	T	C	4: 133,295,232	D601G	probably damaging	Het

Other mutations in Cerk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01414:Cerk	APN	15	86159142	missense	probably benign	0.02
IGL01732:Cerk	APN	15	86146316	missense	possibly damaging	0.68
IGL03107:Cerk	APN	15	86142813	missense	probably benign	0.00
resnick	UTSW	15	86156668	splice site	probably null
BB007:Cerk	UTSW	15	86144719	missense	possibly damaging	0.83
BB017:Cerk	UTSW	15	86144719	missense	possibly damaging	0.83
IGL02837:Cerk	UTSW	15	86144695	nonsense	probably null
R0318:Cerk	UTSW	15	86151565	missense	possibly damaging	0.89
R0517:Cerk	UTSW	15	86156648	missense	probably damaging	1.00
R1052:Cerk	UTSW	15	86149364	missense	possibly damaging	0.95
R1640:Cerk	UTSW	15	86149400	missense	probably damaging	0.98
R2049:Cerk	UTSW	15	86142808	missense	probably benign
R2885:Cerk	UTSW	15	86142883	missense	probably damaging	1.00
R3887:Cerk	UTSW	15	86149331	missense	possibly damaging	0.95
R3931:Cerk	UTSW	15	86155110	nonsense	probably null
R4033:Cerk	UTSW	15	86155027	missense	possibly damaging	0.47
R4234:Cerk	UTSW	15	86142788	missense	probably benign	0.00
R4945:Cerk	UTSW	15	86156601	missense	probably benign	0.44
R5742:Cerk	UTSW	15	86141572	missense	probably damaging	1.00
R6160:Cerk	UTSW	15	86142773	missense	probably benign	0.43
R6309:Cerk	UTSW	15	86156668	splice site	probably null
R7002:Cerk	UTSW	15	86156594	missense	possibly damaging	0.56
R7360:Cerk	UTSW	15	86159126	missense	probably damaging	1.00
R7930:Cerk	UTSW	15	86144719	missense	possibly damaging	0.83
R9406:Cerk	UTSW	15	86144586	missense	possibly damaging	0.80
X0067:Cerk	UTSW	15	86146346	missense	possibly damaging	0.62

Posted On

2014-01-21