Mutagenetix > Incidental Mutation

Incidental Mutation 'R8458:Chkb'

655143

Institutional Source

Beutler Lab

Gene Symbol

Chkb

Ensembl Gene

ENSMUSG00000022617

Gene Name

choline kinase beta

Synonyms

Chkl, CK/EK-beta, Chetk

MMRRC Submission

067835-MU

Accession Numbers

Essential gene?

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

Stock #

R8458 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89310563-89314111 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89312376 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 213 (V213E)

Ref Sequence

ENSEMBL: ENSMUSP00000023289 (fasta)

Gene Model

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

AlphaFold

O55229

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023289
AA Change: V213E

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000023289
Gene: ENSMUSG00000022617
AA Change: V213E

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

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
AA Change: V105E

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000128026
Gene: ENSMUSG00000022617
AA Change: V105E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171666
AA Change: V47E

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000127191
Gene: ENSMUSG00000022617
AA Change: V47E

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: 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.] 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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	T	A	15: 94,251,521 (GRCm39)	H422L	probably benign	Het
Adgra3	G	T	5: 50,145,013 (GRCm39)	P527T	probably damaging	Het
Afg1l	A	G	10: 42,302,517 (GRCm39)	V161A	probably damaging	Het
Als2cl	A	C	9: 110,714,025 (GRCm39)	E65A	probably damaging	Het
Arl3	A	C	19: 46,546,709 (GRCm39)	S39A	probably benign	Het
Cacna1a	T	C	8: 85,276,087 (GRCm39)	V560A	probably damaging	Het
Ccr10	C	T	11: 101,064,982 (GRCm39)	G183R	probably damaging	Het
Celsr2	T	A	3: 108,306,218 (GRCm39)	T2029S	probably benign	Het
Chst5	A	G	8: 112,617,422 (GRCm39)	V66A	probably damaging	Het
Crx	C	A	7: 15,602,031 (GRCm39)	A216S	possibly damaging	Het
Ctnnd1	T	C	2: 84,444,287 (GRCm39)	D556G	probably damaging	Het
Cyp4a14	C	A	4: 115,353,129 (GRCm39)	G61V	probably damaging	Het
Cyp4f17	T	A	17: 32,739,550 (GRCm39)	F157L	probably damaging	Het
Dnah12	A	T	14: 26,548,849 (GRCm39)		probably null	Het
Dnah14	A	C	1: 181,633,577 (GRCm39)	H4P		Het
Dnah7a	T	C	1: 53,657,142 (GRCm39)	D878G	probably benign	Het
Epb41l1	C	T	2: 156,363,684 (GRCm39)	T731I	probably benign	Het
Epg5	G	C	18: 77,991,946 (GRCm39)	E214D	probably benign	Het
Fam171b	A	G	2: 83,690,864 (GRCm39)	T276A	probably benign	Het
Fat4	G	A	3: 39,035,702 (GRCm39)	R3118H	probably benign	Het
Fbrs	C	T	7: 127,082,329 (GRCm39)	R327W	probably damaging	Het
Fmo3	A	G	1: 162,794,509 (GRCm39)	V187A	possibly damaging	Het
Gins1	T	C	2: 150,772,807 (GRCm39)	V190A	probably benign	Het
Gm17067	T	C	7: 42,358,155 (GRCm39)	S116G	probably damaging	Het
Gm5478	A	G	15: 101,553,862 (GRCm39)	V250A	probably benign	Het
Gpr85	T	C	6: 13,836,848 (GRCm39)	T19A	probably benign	Het
Hepacam2	T	C	6: 3,483,358 (GRCm39)	N217S	probably damaging	Het
Igf1r	T	C	7: 67,845,377 (GRCm39)	Y889H	probably benign	Het
Itpr2	T	G	6: 146,135,464 (GRCm39)	R1822S	possibly damaging	Het
Kcnk7	C	T	19: 5,754,407 (GRCm39)		probably benign	Het
Klk1	T	C	7: 43,874,933 (GRCm39)	S11P	probably damaging	Het
Klra7	C	T	6: 130,201,109 (GRCm39)	G216R	probably damaging	Het
Krt34	T	C	11: 99,930,901 (GRCm39)	D167G	probably damaging	Het
Larp1b	A	C	3: 40,930,995 (GRCm39)	E291D	probably benign	Het
Lats1	T	A	10: 7,586,688 (GRCm39)	L950*	probably null	Het
Lrrc2	A	C	9: 110,799,218 (GRCm39)	D255A	probably damaging	Het
Lrrc49	A	T	9: 60,505,456 (GRCm39)	M605K	probably benign	Het
Mocos	A	G	18: 24,799,314 (GRCm39)	K183E	probably benign	Het
Mpl	C	A	4: 118,301,213 (GRCm39)		probably null	Het
Mroh9	T	A	1: 162,883,250 (GRCm39)	T410S	probably damaging	Het
Notch3	T	C	17: 32,375,024 (GRCm39)	E430G	probably damaging	Het
Nsun6	T	C	2: 15,034,863 (GRCm39)	T252A	probably benign	Het
Ntrk1	C	A	3: 87,698,976 (GRCm39)		probably null	Het
Nts	G	T	10: 102,320,921 (GRCm39)	T56N	probably damaging	Het
Nup210l	A	G	3: 90,092,874 (GRCm39)	D1276G	probably null	Het
Or4c12b	G	T	2: 89,647,494 (GRCm39)	V269F	probably damaging	Het
Or51a10	C	A	7: 103,698,875 (GRCm39)	A229S	possibly damaging	Het
Or5b105	T	C	19: 13,079,840 (GRCm39)	Y276C	probably damaging	Het
Osbpl8	A	G	10: 111,113,177 (GRCm39)	S535G	possibly damaging	Het
Pax9	A	G	12: 56,743,550 (GRCm39)	I66V	possibly damaging	Het
Pja2	A	G	17: 64,599,843 (GRCm39)	V547A	probably damaging	Het
Plekhs1	T	C	19: 56,465,590 (GRCm39)	L185S	probably benign	Het
Prkdc	T	A	16: 15,608,540 (GRCm39)		probably null	Het
Ptgdr2	A	T	19: 10,917,785 (GRCm39)	T101S	possibly damaging	Het
Ptprd	T	C	4: 75,984,496 (GRCm39)	D550G	probably benign	Het
Ptx3	G	T	3: 66,128,419 (GRCm39)	R160L	probably benign	Het
Rdh16f1	A	C	10: 127,624,714 (GRCm39)	E184A	probably damaging	Het
Rfx3	C	T	19: 27,771,072 (GRCm39)	E560K	possibly damaging	Het
Scgb2b24	T	C	7: 33,436,779 (GRCm39)	Q111R	probably benign	Het
Spart	A	G	3: 55,032,315 (GRCm39)	D383G	probably damaging	Het
Stpg3	C	A	2: 25,103,333 (GRCm39)	R252L	probably damaging	Het
Tcp11l2	C	T	10: 84,449,396 (GRCm39)	Q454*	probably null	Het
Trav10d	A	G	14: 53,048,780 (GRCm39)	Y57C	probably damaging	Het
Vmn1r170	T	A	7: 23,306,321 (GRCm39)	M241K	possibly damaging	Het
Vwa8	T	A	14: 79,302,332 (GRCm39)	N1000K	probably damaging	Het
Wdsub1	T	C	2: 59,692,045 (GRCm39)	E329G	probably benign	Het
Wnk4	C	A	11: 101,166,147 (GRCm39)	C891*	probably null	Het
Zdhhc16	G	T	19: 41,928,093 (GRCm39)	C204F	probably damaging	Het
Zfp868	T	C	8: 70,064,559 (GRCm39)	I259V	possibly damaging	Het
Zranb3	G	T	1: 127,920,647 (GRCm39)	Q426K	probably damaging	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
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
R9673:Chkb	UTSW	15	89,313,628 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCATTGTGGCAGAAGACCAC -3'
(R):5'- GTTGAGTGGATAGATACCCCAG -3'

Sequencing Primer
(F):5'- TTGTGGCAGAAGACCACTGGTG -3'
(R):5'- ATACCCCAGTATCATGGACTCTG -3'

Posted On

2020-10-20