Mutagenetix > Incidental Mutation

Incidental Mutation 'R0517:Cerk'

48249

Institutional Source

Beutler Lab

Gene Symbol

Cerk

Ensembl Gene

ENSMUSG00000035891

Gene Name

ceramide kinase

Synonyms

D330016D08Rik

MMRRC Submission

038710-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R0517 (G1)

Quality Score

108

Status

Validated

Chromosome

Chromosomal Location

86023329-86070342 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 86040849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 170 (T170I)

Ref Sequence

ENSEMBL: ENSMUSP00000038203 (fasta)

Gene Model

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

AlphaFold

Q8K4Q7

Predicted Effect

probably damaging
Transcript: ENSMUST00000044332
AA Change: T170I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038203
Gene: ENSMUSG00000035891
AA Change: T170I

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

Meta Mutation Damage Score

0.8793

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.1%

Validation Efficiency

100% (62/62)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	T	A	17: 37,292,024 (GRCm39)		probably benign	Het
Acer1	T	C	17: 57,262,569 (GRCm39)	T194A	probably benign	Het
Adamts1	C	A	16: 85,597,241 (GRCm39)	D10Y	possibly damaging	Het
Adamts7	T	C	9: 90,081,911 (GRCm39)	V1612A	probably benign	Het
Adcyap1r1	T	A	6: 55,468,282 (GRCm39)	S373T	probably damaging	Het
Asic5	A	T	3: 81,916,833 (GRCm39)	I266F	probably benign	Het
Cacna1d	A	T	14: 29,901,232 (GRCm39)	I274K	probably damaging	Het
Camsap2	G	T	1: 136,221,126 (GRCm39)	Q238K	possibly damaging	Het
Ceacam15	A	C	7: 16,407,445 (GRCm39)	L24*	probably null	Het
Cyp27b1	T	C	10: 126,885,985 (GRCm39)		probably null	Het
Cyp2c65	T	C	19: 39,070,792 (GRCm39)		probably benign	Het
Dennd5a	A	G	7: 109,533,968 (GRCm39)	S75P	probably damaging	Het
Dhx9	C	T	1: 153,354,662 (GRCm39)	A146T	possibly damaging	Het
Dpysl5	A	G	5: 30,935,410 (GRCm39)	D171G	probably damaging	Het
Dsg3	A	G	18: 20,662,082 (GRCm39)	N449S	probably benign	Het
Eps8l3	T	C	3: 107,790,776 (GRCm39)	S189P	probably benign	Het
Exph5	A	G	9: 53,284,062 (GRCm39)	E381G	probably benign	Het
Fbxo46	A	G	7: 18,870,799 (GRCm39)	M473V	possibly damaging	Het
Fgf14	G	A	14: 124,221,196 (GRCm39)	P203S	probably damaging	Het
Foxf2	C	T	13: 31,810,226 (GRCm39)	A55V	unknown	Het
Galnt5	T	G	2: 57,925,385 (GRCm39)		probably benign	Het
Glis2	T	C	16: 4,429,416 (GRCm39)	L181P	probably damaging	Het
Gm10000	T	G	12: 104,442,667 (GRCm39)		probably benign	Het
Helz2	A	G	2: 180,869,563 (GRCm39)	S2959P	probably benign	Het
Hyal6	A	G	6: 24,734,852 (GRCm39)	N262D	probably benign	Het
Lgr4	T	C	2: 109,841,665 (GRCm39)	L526P	probably damaging	Het
Mapk1	A	T	16: 16,833,910 (GRCm39)	I88F	probably benign	Het
Mpg	A	T	11: 32,181,853 (GRCm39)	H287L	probably benign	Het
Mpp4	A	T	1: 59,163,886 (GRCm39)	Y489*	probably null	Het
Mpzl1	T	C	1: 165,429,359 (GRCm39)	E224G	probably damaging	Het
Myh10	A	G	11: 68,702,425 (GRCm39)		probably null	Het
Odad2	A	C	18: 7,223,621 (GRCm39)	L474R	probably damaging	Het
Or13p8	T	A	4: 118,583,831 (GRCm39)	I129K	probably damaging	Het
Or5m9	T	C	2: 85,877,548 (GRCm39)	S241P	probably damaging	Het
Paip1	T	A	13: 119,584,326 (GRCm39)	F196I	probably damaging	Het
Pde3a	A	T	6: 141,444,383 (GRCm39)	K1064*	probably null	Het
Pira2	A	T	7: 3,847,196 (GRCm39)		probably benign	Het
Pros1	A	G	16: 62,723,881 (GRCm39)	S210G	probably benign	Het
Rbm15	A	T	3: 107,238,685 (GRCm39)	L571Q	probably damaging	Het
Scn1a	T	A	2: 66,132,751 (GRCm39)	T1194S	possibly damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Serpina1e	G	A	12: 103,915,486 (GRCm39)	T240I	probably benign	Het
Setx	T	G	2: 29,047,145 (GRCm39)	S1874R	probably benign	Het
Sgsm2	G	T	11: 74,758,477 (GRCm39)	T256K	possibly damaging	Het
Slc44a1	T	C	4: 53,542,366 (GRCm39)	V300A	probably damaging	Het
Spata46	A	G	1: 170,139,178 (GRCm39)	Y59C	probably damaging	Het
Supt3	T	C	17: 45,430,158 (GRCm39)	F404L	probably benign	Het
Tars1	T	A	15: 11,394,452 (GRCm39)	K62*	probably null	Het
Tas2r139	A	C	6: 42,118,425 (GRCm39)	T186P	probably damaging	Het
Tasor2	T	A	13: 3,616,964 (GRCm39)	T2367S	possibly damaging	Het
Tc2n	C	T	12: 101,615,454 (GRCm39)	S457N	probably damaging	Het
Tox4	A	T	14: 52,530,085 (GRCm39)	S582C	probably benign	Het
Trappc12	T	C	12: 28,747,133 (GRCm39)		probably benign	Het
Ubqlnl	G	T	7: 103,797,845 (GRCm39)	Q551K	probably damaging	Het
Ubr4	A	G	4: 139,119,435 (GRCm39)	T205A	probably benign	Het
Urb1	G	A	16: 90,574,310 (GRCm39)	Q924*	probably null	Het
Vmn1r49	A	G	6: 90,049,720 (GRCm39)	L94P	probably damaging	Het
Vmn2r120	T	C	17: 57,815,949 (GRCm39)	Y802C	probably damaging	Het
Xrcc1	C	T	7: 24,269,744 (GRCm39)		probably benign	Het

Other mutations in Cerk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01414:Cerk	APN	15	86,043,343 (GRCm39)	missense	probably benign	0.02
IGL01653:Cerk	APN	15	86,033,552 (GRCm39)	nonsense	probably null
IGL01732:Cerk	APN	15	86,030,517 (GRCm39)	missense	possibly damaging	0.68
IGL03107:Cerk	APN	15	86,027,014 (GRCm39)	missense	probably benign	0.00
resnick	UTSW	15	86,040,869 (GRCm39)	splice site	probably null
BB007:Cerk	UTSW	15	86,028,920 (GRCm39)	missense	possibly damaging	0.83
BB017:Cerk	UTSW	15	86,028,920 (GRCm39)	missense	possibly damaging	0.83
IGL02837:Cerk	UTSW	15	86,028,896 (GRCm39)	nonsense	probably null
R0318:Cerk	UTSW	15	86,035,766 (GRCm39)	missense	possibly damaging	0.89
R1052:Cerk	UTSW	15	86,033,565 (GRCm39)	missense	possibly damaging	0.95
R1640:Cerk	UTSW	15	86,033,601 (GRCm39)	missense	probably damaging	0.98
R2049:Cerk	UTSW	15	86,027,009 (GRCm39)	missense	probably benign
R2885:Cerk	UTSW	15	86,027,084 (GRCm39)	missense	probably damaging	1.00
R3887:Cerk	UTSW	15	86,033,532 (GRCm39)	missense	possibly damaging	0.95
R3931:Cerk	UTSW	15	86,039,311 (GRCm39)	nonsense	probably null
R4033:Cerk	UTSW	15	86,039,228 (GRCm39)	missense	possibly damaging	0.47
R4234:Cerk	UTSW	15	86,026,989 (GRCm39)	missense	probably benign	0.00
R4945:Cerk	UTSW	15	86,040,802 (GRCm39)	missense	probably benign	0.44
R5742:Cerk	UTSW	15	86,025,773 (GRCm39)	missense	probably damaging	1.00
R6160:Cerk	UTSW	15	86,026,974 (GRCm39)	missense	probably benign	0.43
R6309:Cerk	UTSW	15	86,040,869 (GRCm39)	splice site	probably null
R7002:Cerk	UTSW	15	86,040,795 (GRCm39)	missense	possibly damaging	0.56
R7360:Cerk	UTSW	15	86,043,327 (GRCm39)	missense	probably damaging	1.00
R7930:Cerk	UTSW	15	86,028,920 (GRCm39)	missense	possibly damaging	0.83
R9406:Cerk	UTSW	15	86,028,787 (GRCm39)	missense	possibly damaging	0.80
R9698:Cerk	UTSW	15	86,026,995 (GRCm39)	missense	probably benign	0.30
R9744:Cerk	UTSW	15	86,033,491 (GRCm39)	missense	probably damaging	1.00
X0067:Cerk	UTSW	15	86,030,547 (GRCm39)	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- AGCCTGCTCCTATTGTCAAACACC -3'
(R):5'- GTTTCTCACAGAGGCCGCCTTAC -3'

Sequencing Primer
(F):5'- AACGTGTCCTACGACATGG -3'
(R):5'- AGAGGCCGCCTTACTCTTTTG -3'

Posted On

2013-06-12