Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01415:Chkb'

80199

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Chkb

Ensembl Gene

ENSMUSG00000022617

Gene Name

choline kinase beta

Synonyms

Chkl, CK/EK-beta, Chetk

Accession Numbers

Essential gene?

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

Stock #

IGL01415

Quality Score

Status

Chromosome

Chromosomal Location

89310563-89314111 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89312987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 30 (L30H)

Ref Sequence

ENSEMBL: ENSMUSP00000128026 (fasta)

Gene Model

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

AlphaFold

O55229

Predicted Effect

probably damaging
Transcript: ENSMUST00000023289
AA Change: L126H

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

SMART Domains

Protein: ENSMUSP00000023289
Gene: ENSMUSG00000022617
AA Change: L126H

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 damaging
Transcript: ENSMUST00000052315
AA Change: L126H

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

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

probably damaging
Transcript: ENSMUST00000170460
AA Change: L30H

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

SMART Domains

Protein: ENSMUSP00000128026
Gene: ENSMUSG00000022617
AA Change: L30H

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

noncoding transcript
Transcript: ENSMUST00000170334

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166267

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

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

Coding Region Coverage

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd44	T	C	1: 54,792,087 (GRCm39)	H316R	probably damaging	Het
Arfgef2	G	A	2: 166,709,275 (GRCm39)	M1117I	probably damaging	Het
Cdc42bpg	A	G	19: 6,360,881 (GRCm39)	D213G	probably damaging	Het
Cfap69	G	A	5: 5,696,979 (GRCm39)	P106S	probably damaging	Het
Cit	A	G	5: 116,079,962 (GRCm39)	K758E	possibly damaging	Het
Clstn3	G	A	6: 124,415,781 (GRCm39)	Q634*	probably null	Het
Efcab15	T	C	11: 103,091,754 (GRCm39)	Q42R	probably damaging	Het
Esrra	C	A	19: 6,890,100 (GRCm39)	W98C	probably damaging	Het
Ganab	A	G	19: 8,892,058 (GRCm39)		probably benign	Het
Gcnt3	G	T	9: 69,941,739 (GRCm39)	H276Q	probably benign	Het
Gm16506	A	G	14: 43,961,630 (GRCm39)	Y206H	probably benign	Het
Gvin3	C	T	7: 106,202,258 (GRCm39)		noncoding transcript	Het
Hkdc1	T	A	10: 62,229,638 (GRCm39)	N680Y	probably damaging	Het
Ighe	A	C	12: 113,235,011 (GRCm39)	L383R	unknown	Het
Lgals9	T	G	11: 78,863,977 (GRCm39)	D56A	probably damaging	Het
Marveld3	G	A	8: 110,688,705 (GRCm39)	T12I	possibly damaging	Het
Nab2	A	T	10: 127,500,972 (GRCm39)	L40Q	probably damaging	Het
Naip6	T	C	13: 100,439,798 (GRCm39)	E323G	probably benign	Het
Nubpl	T	A	12: 52,317,853 (GRCm39)	V182E	possibly damaging	Het
Or2ag15	A	G	7: 106,340,706 (GRCm39)	V145A	probably benign	Het
Or4c11	T	A	2: 88,695,864 (GRCm39)	M305K	probably benign	Het
Or6b3	A	G	1: 92,438,974 (GRCm39)	Y259H	probably damaging	Het
Peg3	A	G	7: 6,714,652 (GRCm39)	I190T	probably damaging	Het
Plcl1	G	A	1: 55,735,555 (GRCm39)	V299M	possibly damaging	Het
Ppp4r1	G	A	17: 66,120,522 (GRCm39)	E219K	probably damaging	Het
Sh3d19	G	A	3: 86,005,492 (GRCm39)	A280T	probably benign	Het
Srebf2	A	G	15: 82,061,663 (GRCm39)	I370V	probably benign	Het
Tfb2m	A	G	1: 179,359,695 (GRCm39)		probably benign	Het
Ttll7	T	G	3: 146,615,354 (GRCm39)	S273A	possibly damaging	Het
Unc79	A	G	12: 103,074,944 (GRCm39)	N1401D	probably damaging	Het
Vmn2r115	T	A	17: 23,578,755 (GRCm39)	S743T	probably damaging	Het
Zfand4	G	A	6: 116,291,830 (GRCm39)	R588Q	probably benign	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
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
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

Posted On

2013-11-05