Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00937:Chka'

29516

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Chka

Ensembl Gene

ENSMUSG00000024843

Gene Name

choline kinase alpha

Synonyms

choline/ethanolamine kinase alpha, EtnK-alpha, CK/EK-alpha, Chk, ChoK

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00937

Quality Score

Status

Chromosome

Chromosomal Location

3851773-3894369 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3892189 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 381 (E381G)

Ref Sequence

ENSEMBL: ENSMUSP00000071933 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001801] [ENSMUST00000025760] [ENSMUST00000072055] [ENSMUST00000122885] [ENSMUST00000126070] [ENSMUST00000128694] [ENSMUST00000153343] [ENSMUST00000145791] [ENSMUST00000135070]

AlphaFold

O54804

Predicted Effect

probably benign
Transcript: ENSMUST00000001801

SMART Domains

Protein: ENSMUSP00000001801
Gene: ENSMUSG00000001750

Domain	Start	End	E-Value	Type
Pfam:V_ATPase_I	26	830	4.4e-287	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000025760
AA Change: E399G

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000025760
Gene: ENSMUSG00000024843
AA Change: E399G

Domain	Start	End	E-Value	Type
low complexity region	13	24	N/A	INTRINSIC
low complexity region	53	74	N/A	INTRINSIC
Pfam:APH	108	373	2.4e-11	PFAM
Pfam:Choline_kinase	135	370	8.2e-82	PFAM
Pfam:EcKinase	211	345	2.5e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000072055
AA Change: E381G

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000071933
Gene: ENSMUSG00000024843
AA Change: E381G

Domain	Start	End	E-Value	Type
low complexity region	13	24	N/A	INTRINSIC
low complexity region	53	74	N/A	INTRINSIC
Pfam:APH	108	358	6.4e-12	PFAM
Pfam:Choline_kinase	135	352	1.6e-84	PFAM
Pfam:EcKinase	190	329	2e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122885

SMART Domains

Protein: ENSMUSP00000114768
Gene: ENSMUSG00000001750

Domain	Start	End	E-Value	Type
Pfam:V_ATPase_I	1	91	2.9e-44	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125013

Predicted Effect

probably benign
Transcript: ENSMUST00000125640

SMART Domains

Protein: ENSMUSP00000119493
Gene: ENSMUSG00000024843

Domain	Start	End	E-Value	Type
Pfam:Choline_kinase	40	230	2.2e-49	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125859

Predicted Effect

probably benign
Transcript: ENSMUST00000126070

SMART Domains

Protein: ENSMUSP00000120531
Gene: ENSMUSG00000001750

Domain	Start	End	E-Value	Type
Pfam:V_ATPase_I	27	829	1.2e-277	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128694

SMART Domains

Protein: ENSMUSP00000119919
Gene: ENSMUSG00000024843

Domain	Start	End	E-Value	Type
PDB:4DA5\|B	1	150	2e-60	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131327

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162688

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134698

Predicted Effect

probably benign
Transcript: ENSMUST00000153343

Predicted Effect

probably benign
Transcript: ENSMUST00000145791

SMART Domains

Protein: ENSMUSP00000122474
Gene: ENSMUSG00000001750

Domain	Start	End	E-Value	Type
Pfam:V_ATPase_I	26	830	4.4e-287	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135070

SMART Domains

Protein: ENSMUSP00000121241
Gene: ENSMUSG00000001750

Domain	Start	End	E-Value	Type
low complexity region	59	70	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The major pathway for the biosynthesis of phosphatidylcholine occurs via the CDP-choline pathway. The protein encoded by this gene is the initial enzyme in the sequence and may play a regulatory role. The encoded protein also catalyzes the phosphorylation of ethanolamine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality between E3.5 and E7.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cc2d2a	A	T	5: 43,688,122		probably null	Het
Cd34	A	G	1: 194,960,114	E381G	probably damaging	Het
Dennd1b	T	A	1: 139,170,239	C673S	probably benign	Het
E130308A19Rik	G	A	4: 59,690,846	A227T	probably benign	Het
F13b	T	A	1: 139,517,360		probably benign	Het
Hipk3	T	C	2: 104,433,172	N933D	possibly damaging	Het
Mmp27	T	C	9: 7,578,899		probably benign	Het
Nod1	C	T	6: 54,937,364	V815I	probably benign	Het
Olfr411	C	T	11: 74,347,429	V52I	probably benign	Het
Olfr448	T	A	6: 42,896,634	F61Y	probably damaging	Het
Olfr552	T	A	7: 102,604,357	M1K	probably null	Het
Olfr555	T	A	7: 102,659,348	S176T	probably damaging	Het
Olfr613	C	A	7: 103,551,857	A24E	probably damaging	Het
Olfr697	T	A	7: 106,741,157	Y259F	probably damaging	Het
Pms1	T	A	1: 53,275,251	E45V	possibly damaging	Het
Prkcsh	T	C	9: 22,006,565	S126P	possibly damaging	Het
Pros1	A	T	16: 62,910,045	L299F	probably damaging	Het
Scrn1	A	G	6: 54,520,733	I291T	probably benign	Het
Slc15a2	A	T	16: 36,751,880	Y676*	probably null	Het
Tenm2	A	C	11: 36,024,623	V2028G	probably damaging	Het
Trpa1	T	C	1: 14,880,277		probably benign	Het

Other mutations in Chka

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02630:Chka	APN	19	3892112	missense	possibly damaging	0.94
R1432:Chka	UTSW	19	3874809	splice site	probably benign
R1840:Chka	UTSW	19	3886460	missense	probably benign	0.00
R1898:Chka	UTSW	19	3892205	missense	probably damaging	1.00
R3822:Chka	UTSW	19	3882038	intron	probably benign
R4272:Chka	UTSW	19	3875737	splice site	probably benign
R4329:Chka	UTSW	19	3875803	splice site	probably benign
R4573:Chka	UTSW	19	3885960	missense	probably damaging	1.00
R4720:Chka	UTSW	19	3886375	missense	probably damaging	0.99
R4923:Chka	UTSW	19	3892105	critical splice acceptor site	probably null
R5783:Chka	UTSW	19	3864661	missense	probably damaging	1.00
R5936:Chka	UTSW	19	3884580	missense	probably benign	0.25
R5979:Chka	UTSW	19	3884513	missense	probably damaging	1.00
R7429:Chka	UTSW	19	3892787	missense	probably damaging	1.00
R7430:Chka	UTSW	19	3892787	missense	probably damaging	1.00
R8189:Chka	UTSW	19	3875759	nonsense	probably null
R8213:Chka	UTSW	19	3885882	missense	probably damaging	1.00
R8397:Chka	UTSW	19	3852414	critical splice donor site	probably null
R8440:Chka	UTSW	19	3893375	missense	probably damaging	1.00
R9289:Chka	UTSW	19	3885953	missense	possibly damaging	0.75

Posted On

2013-04-17