Mutagenetix > Incidental Mutation

Incidental Mutation 'R9698:Cerk'

729452

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 #

R9698 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86023329-86070342 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86026995 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 477 (K477E)

Ref Sequence

ENSEMBL: ENSMUSP00000038203 (fasta)

Gene Model

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

AlphaFold

Q8K4Q7

Predicted Effect

probably benign
Transcript: ENSMUST00000044332
AA Change: K477E

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000038203
Gene: ENSMUSG00000035891
AA Change: K477E

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 benign
Transcript: ENSMUST00000156546
AA Change: K172E

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000119472
Gene: ENSMUSG00000035891
AA Change: K172E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,571,757 (GRCm39)	M1124V	probably benign	Het
Adamts9	A	G	6: 92,784,121 (GRCm39)	C1578R	probably damaging	Het
Adprs	T	C	4: 126,210,514 (GRCm39)	D322G	probably damaging	Het
Anks3	T	C	16: 4,766,113 (GRCm39)	E327G	probably benign	Het
Aspm	T	G	1: 139,389,646 (GRCm39)	N689K	probably benign	Het
Bsn	T	A	9: 107,993,170 (GRCm39)	I861F	probably damaging	Het
Camk2d	C	T	3: 126,633,833 (GRCm39)	H452Y	possibly damaging	Het
Cntn6	T	A	6: 104,810,044 (GRCm39)	Y575*	probably null	Het
Copg2	T	C	6: 30,838,373 (GRCm39)	E141G	probably damaging	Het
D430041D05Rik	A	G	2: 103,985,396 (GRCm39)	S1224P	probably damaging	Het
Dhrs3	T	C	4: 144,646,508 (GRCm39)	I186T	possibly damaging	Het
Erich2	A	G	2: 70,371,055 (GRCm39)	D431G	unknown	Het
Fmn2	T	A	1: 174,364,739 (GRCm39)	C559S	unknown	Het
Gpr180	G	A	14: 118,391,302 (GRCm39)	G235R	probably damaging	Het
Hoxa13	T	C	6: 52,236,024 (GRCm39)	T174A	probably benign	Het
Hrh3	A	G	2: 179,743,206 (GRCm39)	S141P	possibly damaging	Het
Hrnr	T	C	3: 93,233,094 (GRCm39)	S1111P	unknown	Het
Il12rb1	G	T	8: 71,263,848 (GRCm39)	Q136H	possibly damaging	Het
Kcna3	T	C	3: 106,944,405 (GRCm39)	S223P	probably benign	Het
Map10	T	A	8: 126,398,723 (GRCm39)	N705K	probably benign	Het
Marf1	C	A	16: 13,967,077 (GRCm39)	V345L	probably benign	Het
Mcub	C	T	3: 129,710,668 (GRCm39)	D255N	probably damaging	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Mroh3	T	C	1: 136,114,452 (GRCm39)	T625A	probably damaging	Het
Myo18a	A	G	11: 77,720,681 (GRCm39)	Y1152C	probably damaging	Het
Ncdn	T	C	4: 126,643,688 (GRCm39)	Y378C	probably damaging	Het
Or1e30	T	C	11: 73,678,442 (GRCm39)	L226P	probably damaging	Het
Or2m13	A	T	16: 19,226,342 (GRCm39)	C141*	probably null	Het
Or55b4	G	A	7: 102,133,377 (GRCm39)	Q317*	probably null	Het
Pcm1	T	C	8: 41,723,541 (GRCm39)	L342P	possibly damaging	Het
Pdlim1	T	A	19: 40,218,959 (GRCm39)	D224V	probably benign	Het
Plxnb1	A	G	9: 108,925,251 (GRCm39)		probably benign	Het
Pot1a	T	C	6: 25,744,615 (GRCm39)	I630V	probably damaging	Het
Ppil4	A	G	10: 7,683,033 (GRCm39)		probably null	Het
Ptpru	A	T	4: 131,547,531 (GRCm39)	I174K	probably benign	Het
Rab11fip4	T	A	11: 79,583,592 (GRCm39)	L612Q	probably damaging	Het
Rassf4	A	G	6: 116,618,662 (GRCm39)	L207P	probably damaging	Het
Reg3g	A	C	6: 78,444,805 (GRCm39)	S58A	probably benign	Het
Ric8b	T	C	10: 84,783,361 (GRCm39)	L73P	probably damaging	Het
Rmdn2	A	G	17: 79,957,729 (GRCm39)		probably null	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Slc46a2	A	G	4: 59,912,582 (GRCm39)	S397P	probably damaging	Het
Smpd3	A	T	8: 106,992,296 (GRCm39)	S86T	possibly damaging	Het
Sumf1	T	C	6: 108,131,923 (GRCm39)	H198R	probably benign	Het
Tagap1	C	G	17: 7,228,477 (GRCm39)	D18H	probably damaging	Het
Tcf23	C	T	5: 31,126,225 (GRCm39)	R35C	probably damaging	Het
Tdpoz8	T	A	3: 92,981,727 (GRCm39)	D174E	possibly damaging	Het
Tenm3	G	A	8: 48,689,246 (GRCm39)	L2114F	probably damaging	Het
Ttn	A	T	2: 76,773,718 (GRCm39)	I2301K	unknown	Het
Ubr4	A	G	4: 139,167,975 (GRCm39)	E1496G		Het
Usp48	T	C	4: 137,361,202 (GRCm39)	V756A	possibly damaging	Het
Zfp626	A	G	7: 27,518,440 (GRCm39)	I474V	possibly damaging	Het
Zfpm1	T	A	8: 123,063,868 (GRCm39)	S976T	unknown	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
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'- GAGACAGCGTTTGTGGACAG -3'
(R):5'- ATCCGGTCTCTAAGTTGTTAGATGAG -3'

Sequencing Primer
(F):5'- CGTTTGTGGACAGCCGTC -3'
(R):5'- GTCTTCACAGGACCACGAGTC -3'

Posted On

2022-10-06