Mutagenetix > Incidental Mutation

Incidental Mutation 'R9744:Cerk'

732001

Institutional Source

Beutler Lab

Gene Symbol

Cerk

Ensembl Gene

ENSMUSG00000035891

Gene Name

ceramide kinase

Synonyms

D330016D08Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9744 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86023329-86070342 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86033491 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 311 (Y311H)

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: Y311H

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

SMART Domains

Protein: ENSMUSP00000038203
Gene: ENSMUSG00000035891
AA Change: Y311H

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

probably damaging
Transcript: ENSMUST00000156546
AA Change: Y6H

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

SMART Domains

Protein: ENSMUSP00000119472
Gene: ENSMUSG00000035891
AA Change: Y6H

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.5%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam7	T	A	14: 68,742,583 (GRCm39)	M677L	probably benign	Het
Ankrd24	T	G	10: 81,482,951 (GRCm39)	D966E	possibly damaging	Het
Arhgef28	A	G	13: 98,094,261 (GRCm39)	L961P	probably damaging	Het
Atxn1	G	A	13: 45,721,299 (GRCm39)	Q199*	probably null	Het
Bcl2a1c	G	A	9: 114,159,341 (GRCm39)	V40I	probably benign	Het
Cep41	A	G	6: 30,656,603 (GRCm39)	V283A	probably benign	Het
Ciz1	A	T	2: 32,253,859 (GRCm39)	Q13L	unknown	Het
Cpeb2	T	C	5: 43,391,268 (GRCm39)	S155P		Het
Dmbx1	T	A	4: 115,777,262 (GRCm39)	E200D	probably damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Erc1	T	C	6: 119,720,360 (GRCm39)	Y747C	probably damaging	Het
Fhad1	T	C	4: 141,637,124 (GRCm39)	E1114G	probably damaging	Het
Fndc3a	C	A	14: 72,777,693 (GRCm39)	E1171*	probably null	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Gys2	A	C	6: 142,394,187 (GRCm39)	D450E	probably benign	Het
Hmcn1	A	T	1: 150,623,941 (GRCm39)	I1120N	probably damaging	Het
Ints3	G	T	3: 90,318,605 (GRCm39)	T210K	probably damaging	Het
Itih5	T	C	2: 10,256,221 (GRCm39)	Y896H	probably damaging	Het
Kcna7	A	G	7: 45,056,402 (GRCm39)	D206G	probably benign	Het
Klhl10	T	A	11: 100,336,396 (GRCm39)	C128S	probably damaging	Het
Klhl5	T	C	5: 65,320,255 (GRCm39)	V603A	probably damaging	Het
Mapk15	T	A	15: 75,869,912 (GRCm39)	I344N	possibly damaging	Het
Mdn1	T	C	4: 32,715,711 (GRCm39)	F1993L	possibly damaging	Het
Myo1c	T	C	11: 75,562,797 (GRCm39)	L959P	probably damaging	Het
Nectin1	A	G	9: 43,715,240 (GRCm39)	Q492R	probably damaging	Het
Nlrp14	A	T	7: 106,796,987 (GRCm39)	L951F	probably damaging	Het
Nlrp5	T	G	7: 23,120,902 (GRCm39)	S705R	possibly damaging	Het
Nlrp9a	A	G	7: 26,267,266 (GRCm39)	Y787C	probably benign	Het
Npsr1	A	G	9: 24,201,182 (GRCm39)	T189A	probably benign	Het
Nup205	T	C	6: 35,209,510 (GRCm39)	Y1606H	probably damaging	Het
Or2w4	A	G	13: 21,795,827 (GRCm39)	F104S	possibly damaging	Het
Or4k48	C	A	2: 111,475,664 (GRCm39)	R226L	probably benign	Het
Or6z5	A	T	7: 6,477,210 (GRCm39)	I34L	probably benign	Het
Pitx2	A	T	3: 129,009,467 (GRCm39)	T129S	probably damaging	Het
Pla2g2c	T	C	4: 138,470,972 (GRCm39)	S118P	probably damaging	Het
Polr1a	A	G	6: 71,906,372 (GRCm39)	N396S	probably benign	Het
Prl	A	T	13: 27,248,338 (GRCm39)	Q135L	probably benign	Het
Prrc2c	A	G	1: 162,505,733 (GRCm39)	L2555P	possibly damaging	Het
Psg29	A	T	7: 16,944,495 (GRCm39)	D335V	probably benign	Het
Psme4	T	C	11: 30,765,294 (GRCm39)		probably null	Het
Ramp2	T	A	11: 101,137,913 (GRCm39)	S52T	unknown	Het
Skint6	C	T	4: 112,666,360 (GRCm39)	G1155D	probably damaging	Het
Sorcs1	G	A	19: 50,215,275 (GRCm39)	R655C	probably damaging	Het
Syne1	A	G	10: 5,274,184 (GRCm39)	C1867R	probably benign	Het
Tcf21	T	C	10: 22,695,726 (GRCm39)	D26G	probably benign	Het
Tmem132a	G	A	19: 10,840,678 (GRCm39)	P418L	probably damaging	Het
Tob1	C	T	11: 94,105,054 (GRCm39)	R197C	probably damaging	Het
Vmn2r110	A	G	17: 20,794,848 (GRCm39)	V607A	probably damaging	Het
Vmn2r30	A	G	7: 7,315,284 (GRCm39)	S850P	possibly damaging	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
R0517:Cerk	UTSW	15	86,040,849 (GRCm39)	missense	probably damaging	1.00
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
X0067:Cerk	UTSW	15	86,030,547 (GRCm39)	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- ACTGTGTTGTGACTCTCAAGG -3'
(R):5'- TCCAATTGCCACACTGAGCG -3'

Sequencing Primer
(F):5'- TGACTCTCAAGGGAGCATCATCTG -3'
(R):5'- GCAGCAAGCAGACACCTCTG -3'

Posted On

2022-11-14