Mutagenetix > Incidental Mutation

Incidental Mutation 'R5452:Chkb'

432598

Institutional Source

Beutler Lab

Gene Symbol

Chkb

Ensembl Gene

ENSMUSG00000022617

Gene Name

choline kinase beta

Synonyms

Chkl, CK/EK-beta, Chetk

MMRRC Submission

042848-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.480) question?

Stock #

R5452 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89310563-89314111 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 89313788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127191 (fasta)

Gene Model

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

AlphaFold

O55229

Predicted Effect

unknown
Transcript: ENSMUST00000023289
AA Change: T6A

SMART Domains

Protein: ENSMUSP00000023289
Gene: ENSMUSG00000022617
AA Change: T6A

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

unknown
Transcript: ENSMUST00000052315
AA Change: T6A

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: ENSMUST00000165623

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166267

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170334

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171140

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

Predicted Effect

probably benign
Transcript: ENSMUST00000168646

Predicted Effect

probably benign
Transcript: ENSMUST00000170460

SMART Domains

Protein: ENSMUSP00000128026
Gene: ENSMUSG00000022617

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

Predicted Effect

probably benign
Transcript: ENSMUST00000171666

SMART Domains

Protein: ENSMUSP00000127191
Gene: ENSMUSG00000022617

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.1%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	A	T	8: 41,248,801 (GRCm39)	I304F	probably damaging	Het
Adamts5	A	G	16: 85,666,800 (GRCm39)		probably benign	Het
Akr1c6	A	G	13: 4,504,544 (GRCm39)	R132G	probably benign	Het
Ash1l	T	A	3: 88,892,183 (GRCm39)	M1354K	possibly damaging	Het
C6	T	C	15: 4,844,311 (GRCm39)	I911T	possibly damaging	Het
Calm2	T	C	17: 87,743,150 (GRCm39)		probably null	Het
Ccdc80	G	A	16: 44,938,528 (GRCm39)	R745Q	probably damaging	Het
Celsr3	T	C	9: 108,721,233 (GRCm39)	I2685T	possibly damaging	Het
Dennd5b	T	A	6: 148,943,011 (GRCm39)		probably null	Het
Dnah2	T	C	11: 69,415,209 (GRCm39)	Y175C	probably damaging	Het
Dnajc13	A	G	9: 104,069,313 (GRCm39)	S1154P	probably benign	Het
Ephb4	T	C	5: 137,359,404 (GRCm39)	S325P	probably damaging	Het
Fzd9	C	T	5: 135,279,714 (GRCm39)	R57H	probably damaging	Het
Gemin6	T	G	17: 80,535,178 (GRCm39)	V46G	probably damaging	Het
Gm9949	A	G	18: 62,313,587 (GRCm39)		probably benign	Het
Gnb4	A	T	3: 32,643,994 (GRCm39)	M188K	probably benign	Het
Hr	G	T	14: 70,794,067 (GRCm39)	G109V	probably damaging	Het
Lrp1b	A	G	2: 40,812,328 (GRCm39)	S2426P	probably damaging	Het
Map2k4	A	G	11: 65,610,413 (GRCm39)	W88R	probably damaging	Het
Map4	C	T	9: 109,866,851 (GRCm39)		probably benign	Het
Moxd2	C	T	6: 40,859,048 (GRCm39)		probably null	Het
Mrgprx1	T	C	7: 47,671,556 (GRCm39)	I64V	probably benign	Het
Mtrex	T	C	13: 113,049,715 (GRCm39)	S232G	probably null	Het
Or5p68	A	C	7: 107,945,312 (GRCm39)	I292S	probably damaging	Het
Padi2	T	C	4: 140,659,382 (GRCm39)	F229S	probably benign	Het
Pappa2	T	C	1: 158,666,172 (GRCm39)	N1136S	probably benign	Het
Pcdhb1	A	T	18: 37,398,811 (GRCm39)	N254I	possibly damaging	Het
Plcb2	A	G	2: 118,548,727 (GRCm39)	Y400H	probably damaging	Het
Plce1	A	C	19: 38,608,926 (GRCm39)	T412P	probably benign	Het
Prg4	T	C	1: 150,331,519 (GRCm39)		probably benign	Het
Prkdc	A	G	16: 15,586,501 (GRCm39)	N2510S	possibly damaging	Het
Psme4	T	A	11: 30,741,168 (GRCm39)	S107T	probably benign	Het
Resf1	C	A	6: 149,230,611 (GRCm39)	S1219*	probably null	Het
Rint1	G	T	5: 23,999,363 (GRCm39)	A51S	probably benign	Het
Rsad1	T	A	11: 94,434,515 (GRCm39)	R306S	probably damaging	Het
Sema3c	T	G	5: 17,922,068 (GRCm39)		probably null	Het
Sirt3	G	A	7: 140,444,928 (GRCm39)	T290I	probably damaging	Het
Spam1	G	A	6: 24,800,731 (GRCm39)	G490D	probably benign	Het
Speer4f2	C	T	5: 17,581,498 (GRCm39)	R147W	possibly damaging	Het
Sppl2c	A	T	11: 104,078,126 (GRCm39)	I309L	probably benign	Het
Srxn1	G	A	2: 151,947,799 (GRCm39)	V66M	probably damaging	Het
St3gal4	C	T	9: 34,964,752 (GRCm39)	R152H	probably damaging	Het
Sv2c	A	T	13: 96,114,591 (GRCm39)	F532I	probably damaging	Het
Tacc1	C	A	8: 25,654,431 (GRCm39)	K705N	probably null	Het
Tekt3	G	T	11: 62,985,619 (GRCm39)	S475I	probably damaging	Het
Tjap1	T	C	17: 46,571,101 (GRCm39)	T139A	probably damaging	Het
Tnfrsf8	T	A	4: 145,019,214 (GRCm39)	K207M	possibly damaging	Het
Tnn	T	C	1: 159,937,831 (GRCm39)	T965A	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trmt2a	A	G	16: 18,068,814 (GRCm39)	H270R	probably damaging	Het
Ttc21a	T	C	9: 119,780,037 (GRCm39)	L448P	probably benign	Het
Ttll4	C	A	1: 74,718,480 (GRCm39)	N110K	probably benign	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Tut7	A	G	13: 59,948,471 (GRCm39)	Y215H	probably damaging	Het
Ubr1	A	G	2: 120,698,783 (GRCm39)	Y1595H	possibly damaging	Het
Unc45a	G	A	7: 79,978,787 (GRCm39)	P621S	probably damaging	Het
Xrn2	A	T	2: 146,866,633 (GRCm39)		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
R4999:Chkb	UTSW	15	89,312,368 (GRCm39)	missense	probably damaging	1.00
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'- TGCAGATCCACACAGGTCAG -3'
(R):5'- AATCGCATCTGGCTTGGAAAC -3'

Sequencing Primer
(F):5'- GATCCACACAGGTCAGGCTCAG -3'
(R):5'- CTGGAGCCACCAAGAAAG -3'

Posted On

2016-10-06