Mutagenetix > Incidental Mutation

Incidental Mutation 'R4999:Chkb'

389769

Institutional Source

Beutler Lab

Gene Symbol

Chkb

Ensembl Gene

ENSMUSG00000022617

Gene Name

choline kinase beta

Synonyms

Chkl, CK/EK-beta, Chetk

MMRRC Submission

042593-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.475) question?

Stock #

R4999 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89310563-89314111 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89312368 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 216 (Y216N)

Ref Sequence

ENSEMBL: ENSMUSP00000023289 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023289] [ENSMUST00000052315] [ENSMUST00000109313] [ENSMUST00000170460] [ENSMUST00000171666] [ENSMUST00000168646] [ENSMUST00000168376]

AlphaFold

O55229

Predicted Effect

probably damaging
Transcript: ENSMUST00000023289
AA Change: Y216N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023289
Gene: ENSMUSG00000022617
AA Change: Y216N

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
Pfam:APH	70	317	1.9e-14	PFAM
Pfam:Choline_kinase	97	308	1.5e-76	PFAM
low complexity region	324	344	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000052315

Predicted Effect

probably benign
Transcript: ENSMUST00000109313

SMART Domains

Protein: ENSMUSP00000104936
Gene: ENSMUSG00000078937

Domain	Start	End	E-Value	Type
Pfam:CPT_N	1	47	2.5e-29	PFAM
Pfam:Carn_acyltransf	173	762	1.3e-183	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000112664

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000115278

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165419

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165623

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166267

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170334

Predicted Effect

probably damaging
Transcript: ENSMUST00000170460
AA Change: Y108N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128026
Gene: ENSMUSG00000022617
AA Change: Y108N

Domain	Start	End	E-Value	Type
Pfam:Choline_kinase	1	176	1e-65	PFAM
Pfam:APH	8	176	6.1e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171140

Predicted Effect

probably damaging
Transcript: ENSMUST00000171666
AA Change: Y50N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000127191
Gene: ENSMUSG00000022617
AA Change: Y50N

Domain	Start	End	E-Value	Type
Pfam:Choline_kinase	1	142	2.5e-51	PFAM
Pfam:APH	1	149	6.9e-14	PFAM
Pfam:EcKinase	2	116	8.8e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168646

Predicted Effect

probably benign
Transcript: ENSMUST00000168376

SMART Domains

Protein: ENSMUSP00000129786
Gene: ENSMUSG00000078937

Domain	Start	End	E-Value	Type
PDB:2LE3\|A	1	42	1e-21	PDB

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Choline kinase (CK) and ethanolamine kinase (EK) catalyze the phosphorylation of choline/ethanolamine to phosphocholine/phosphoethanolamine. This is the first enzyme in the biosynthesis of phosphatidylcholine/phosphatidylethanolamine in all animal cells. The highly purified CKs from mammalian sources and their recombinant gene products have been shown to have EK activity also, indicating that both activities reside on the same protein. The choline kinase-like protein encoded by CHKL belongs to the choline/ethanolamine kinase family; however, its exact function is not known. Read-through transcripts are expressed from this locus that include exons from the downstream CPT1B locus. [provided by RefSeq, Jun 2009]
PHENOTYPE: Homozygous null mice display progressive muscular weakness and dystrophy in the hindlimbs but have normal nerve and neuromuscular junction morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930444P10Rik	A	G	1: 16,139,022 (GRCm39)		probably null	Het
Abca4	T	A	3: 121,899,019 (GRCm39)	V667D	probably damaging	Het
Aco1	A	G	4: 40,176,507 (GRCm39)	I224V	probably damaging	Het
Arel1	C	T	12: 84,978,541 (GRCm39)	V364M	probably damaging	Het
Arhgap42	A	G	9: 9,009,435 (GRCm39)	V484A	probably damaging	Het
Asap2	T	C	12: 21,302,766 (GRCm39)	F681L	probably benign	Het
Atrn	C	A	2: 130,817,874 (GRCm39)	D809E	probably damaging	Het
Ccdc70	G	A	8: 22,463,266 (GRCm39)	V19M	possibly damaging	Het
Ccp110	G	T	7: 118,329,235 (GRCm39)	E73*	probably null	Het
Cfap57	A	C	4: 118,453,045 (GRCm39)	S553A	probably benign	Het
Cftr	A	G	6: 18,221,613 (GRCm39)	K212E	probably benign	Het
Cntnap2	G	T	6: 45,897,768 (GRCm39)	D149Y	probably damaging	Het
Cpd	A	G	11: 76,737,048 (GRCm39)		probably null	Het
Creb3l1	C	T	2: 91,813,571 (GRCm39)	D489N	probably benign	Het
Crhbp	A	G	13: 95,578,753 (GRCm39)	F123L	probably damaging	Het
Cryab	T	C	9: 50,665,909 (GRCm39)	V100A	possibly damaging	Het
Csmd2	T	C	4: 128,415,723 (GRCm39)	I2684T	probably benign	Het
Ctbp2	G	T	7: 132,616,378 (GRCm39)	P186T	possibly damaging	Het
Ctnna2	T	C	6: 76,892,745 (GRCm39)	N814S	possibly damaging	Het
Dntt	T	C	19: 41,028,295 (GRCm39)	V197A	probably damaging	Het
Fam135a	G	A	1: 24,059,758 (GRCm39)	A1187V	possibly damaging	Het
Filip1l	A	T	16: 57,390,778 (GRCm39)	Q455H	probably benign	Het
Grm2	T	C	9: 106,531,189 (GRCm39)	E100G	probably damaging	Het
Gtf2ird2	G	A	5: 134,246,306 (GRCm39)	V855M	probably damaging	Het
Heatr9	A	T	11: 83,409,618 (GRCm39)	I118N	possibly damaging	Het
Htra3	T	C	5: 35,828,469 (GRCm39)	H137R	probably benign	Het
Iars1	A	G	13: 49,863,137 (GRCm39)	S530G	probably damaging	Het
Klhdc4	T	A	8: 122,523,342 (GRCm39)	M510L	probably benign	Het
Lipc	T	C	9: 70,724,013 (GRCm39)	T204A	probably benign	Het
Lrp1	A	G	10: 127,389,648 (GRCm39)	V3129A	probably damaging	Het
Macf1	G	A	4: 123,388,702 (GRCm39)	T1120I	probably benign	Het
Maco1	A	G	4: 134,555,444 (GRCm39)	I343T	probably benign	Het
Map4	T	C	9: 109,867,445 (GRCm39)		probably benign	Het
Mbtps1	A	T	8: 120,260,087 (GRCm39)	V420D	probably damaging	Het
Mta2	G	T	19: 8,927,747 (GRCm39)	D523Y	probably benign	Het
Mtcl2	C	T	2: 156,864,776 (GRCm39)	G1144D	probably benign	Het
Muc4	A	G	16: 32,576,670 (GRCm39)		probably benign	Het
Mug1	C	T	6: 121,855,902 (GRCm39)	Q965*	probably null	Het
Myo1e	T	A	9: 70,260,594 (GRCm39)	I584N	probably damaging	Het
Nolc1	T	C	19: 46,067,359 (GRCm39)	V80A	probably damaging	Het
Nop56	G	T	2: 130,117,645 (GRCm39)	V91L	probably benign	Het
Or5b99	A	T	19: 12,976,583 (GRCm39)	M78L	probably benign	Het
Or5h23	A	T	16: 58,906,765 (GRCm39)	L27Q	probably damaging	Het
Or6f2	T	C	7: 139,756,933 (GRCm39)	V300A	probably damaging	Het
Osbpl3	T	C	6: 50,313,277 (GRCm39)	E107G	probably damaging	Het
Pde3a	T	A	6: 141,195,751 (GRCm39)	C146S	probably benign	Het
Pfkm	A	G	15: 98,026,123 (GRCm39)	M573V	probably damaging	Het
Pkd1l2	C	T	8: 117,774,113 (GRCm39)		probably null	Het
Plekhg3	T	C	12: 76,612,021 (GRCm39)	I374T	possibly damaging	Het
Ppig	T	A	2: 69,571,830 (GRCm39)	V183D	unknown	Het
Prom1	T	G	5: 44,194,876 (GRCm39)	I290L	probably benign	Het
Rufy3	T	A	5: 88,785,085 (GRCm39)	M387K	probably damaging	Het
Selenoo	G	A	15: 88,978,387 (GRCm39)	R270H	probably damaging	Het
Sema3d	T	A	5: 12,558,054 (GRCm39)		probably null	Het
Sema6c	C	T	3: 95,075,674 (GRCm39)	T175I	probably damaging	Het
Serpina3k	T	C	12: 104,307,305 (GRCm39)	I179T	probably damaging	Het
Sf3b3	T	C	8: 111,567,835 (GRCm39)	T207A	probably benign	Het
Slc22a26	C	A	19: 7,779,546 (GRCm39)	R90L	probably damaging	Het
Slitrk5	T	C	14: 111,917,648 (GRCm39)	V424A	probably damaging	Het
Smarca2	G	T	19: 26,698,255 (GRCm39)	E89*	probably null	Het
Stab2	T	A	10: 86,773,773 (GRCm39)	S853C	probably damaging	Het
Stk17b	A	T	1: 53,800,306 (GRCm39)		probably null	Het
Taar5	T	A	10: 23,847,445 (GRCm39)	I281N	possibly damaging	Het
Tars3	A	T	7: 65,308,683 (GRCm39)	E284D	probably damaging	Het
Tbx15	C	A	3: 99,223,649 (GRCm39)	T279K	probably damaging	Het
Tfr2	G	A	5: 137,585,187 (GRCm39)	V740I	probably benign	Het
Tlr12	T	C	4: 128,511,473 (GRCm39)	E259G	probably benign	Het
Tmem145	A	G	7: 25,008,459 (GRCm39)	T302A	probably benign	Het
Trappc14	T	A	5: 138,259,884 (GRCm39)	T391S	probably damaging	Het
Trpa1	G	T	1: 14,946,085 (GRCm39)	H1015Q	probably benign	Het
Tspan8	A	G	10: 115,653,534 (GRCm39)	Y10C	possibly damaging	Het
Ttll7	A	G	3: 146,600,224 (GRCm39)	N44S	probably damaging	Het
Uba7	T	C	9: 107,857,038 (GRCm39)		probably null	Het
Ube2j2	G	A	4: 156,030,841 (GRCm39)	M1I	probably null	Het
Ubr5	C	A	15: 38,009,912 (GRCm39)	A1022S	probably benign	Het
Usf1	T	G	1: 171,243,331 (GRCm39)	I36S	probably damaging	Het
Vmn1r181	A	T	7: 23,683,790 (GRCm39)	D85V	probably damaging	Het
Vmn1r3	A	T	4: 3,185,009 (GRCm39)	Y99*	probably null	Het
Vmn1r72	T	C	7: 11,404,300 (GRCm39)	I49M	possibly damaging	Het
Vmn2r99	A	G	17: 19,582,397 (GRCm39)	M1V	probably null	Het
Vsig10	T	A	5: 117,482,040 (GRCm39)	V410E	probably damaging	Het
Zc3h7b	A	G	15: 81,663,334 (GRCm39)	Y442C	probably damaging	Het
Zfyve26	G	T	12: 79,327,159 (GRCm39)	Y730*	probably null	Het

Other mutations in Chkb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00661:Chkb	APN	15	89,311,794 (GRCm39)	missense	probably benign	0.05
IGL00922:Chkb	APN	15	89,306,491 (GRCm39)	critical splice donor site	probably null
IGL00943:Chkb	APN	15	89,312,951 (GRCm39)	missense	probably damaging	1.00
IGL01415:Chkb	APN	15	89,312,987 (GRCm39)	missense	probably damaging	1.00
IGL01537:Chkb	APN	15	89,311,986 (GRCm39)	splice site	probably benign
IGL01710:Chkb	APN	15	89,310,843 (GRCm39)	nonsense	probably null
IGL01720:Chkb	APN	15	89,312,155 (GRCm39)	splice site	probably null
IGL02725:Chkb	APN	15	89,313,340 (GRCm39)	missense	probably damaging	1.00
R0402:Chkb	UTSW	15	89,313,610 (GRCm39)	missense	probably benign	0.01
R1779:Chkb	UTSW	15	89,313,260 (GRCm39)	missense	possibly damaging	0.76
R2001:Chkb	UTSW	15	89,312,969 (GRCm39)	missense	probably damaging	1.00
R5452:Chkb	UTSW	15	89,313,788 (GRCm39)	unclassified	probably benign
R5822:Chkb	UTSW	15	89,313,715 (GRCm39)	missense	probably benign	0.22
R6820:Chkb	UTSW	15	89,312,379 (GRCm39)	missense	probably damaging	1.00
R8458:Chkb	UTSW	15	89,312,376 (GRCm39)	missense	possibly damaging	0.53
R9673:Chkb	UTSW	15	89,313,628 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGGGGTATCGTCTAGTAACTTC -3'
(R):5'- CAGTTTGGGATCCGTGCATC -3'

Sequencing Primer
(F):5'- ATCGTCTAGTAACTTCCTGTAGAGG -3'
(R):5'- CCTCTAGTTGAGTGGATAGATACCC -3'

Posted On

2016-06-06