Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00861:Chat'

9658

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Chat

Ensembl Gene

ENSMUSG00000021919

Gene Name

choline acetyltransferase

Synonyms

B230380D24Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.889) question?

Stock #

IGL00861

Quality Score

Status

Chromosome

Chromosomal Location

32408203-32465989 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32449023 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 173 (Y173C)

Ref Sequence

ENSEMBL: ENSMUSP00000070865 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070125] [ENSMUST00000226365] [ENSMUST00000227579]

Predicted Effect

probably damaging
Transcript: ENSMUST00000070125
AA Change: Y173C

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000070865
Gene: ENSMUSG00000021919
AA Change: Y173C

Domain	Start	End	E-Value	Type
Pfam:Carn_acyltransf	24	612	5.5e-190	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226365
AA Change: Y173C

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227579
AA Change: Y173C

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227675

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme which catalyzes the biosynthesis of the neurotransmitter acetylcholine. This gene product is a characteristic feature of cholinergic neurons, and changes in these neurons may explain some of the symptoms of Alzheimer's disease. Polymorphisms in this gene have been associated with Alzheimer's disease and mild cognitive impairment. Mutations in this gene are associated with congenital myasthenic syndrome associated with episodic apnea. Multiple transcript variants encoding different isoforms have been found for this gene, and some of these variants have been shown to encode more than one isoform. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygous mutation of this gene results in hyperinnervation of motor neurons, abnormal morphology and patterning of neuromuscular synapses, and perinatal lethality. Mutant fetuses at E18.5 exhibit a hunched position, reduced body length, and carpoptosis(drop wrist). [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adm2	G	A	15: 89,323,285		probably benign	Het
Ambra1	T	A	2: 91,770,926	D189E	possibly damaging	Het
Atg16l1	G	A	1: 87,774,838	G274S	probably damaging	Het
Cdh7	C	A	1: 110,060,988		probably benign	Het
Crygd	C	T	1: 65,062,091	R115Q	probably benign	Het
Ctnnd1	T	C	2: 84,603,752	D874G	probably damaging	Het
Dbt	G	A	3: 116,546,114	G384S	probably benign	Het
Depdc5	T	C	5: 32,967,814		probably null	Het
Eef1b2	G	A	1: 63,178,506	G91R	probably damaging	Het
Fut10	G	T	8: 31,235,705	V163F	probably damaging	Het
Glmn	A	T	5: 107,570,139	M304K	possibly damaging	Het
Klra6	A	G	6: 130,023,700	V47A	possibly damaging	Het
Lgi2	T	C	5: 52,538,121	K491E	probably benign	Het
Lrrc72	T	A	12: 36,221,508	Q138L	probably benign	Het
Nxph2	T	A	2: 23,399,962	F109I	probably damaging	Het
Oosp3	A	G	19: 11,711,640	D84G	probably benign	Het
Pdzd3	A	G	9: 44,249,636	L211P	possibly damaging	Het
Poc1b	C	T	10: 99,129,652	R106C	probably benign	Het
Ptk2	A	G	15: 73,262,547	S568P	probably damaging	Het
Slc4a5	A	G	6: 83,299,471	I1093V	probably benign	Het
Snx2	G	A	18: 53,210,797		probably null	Het
Washc5	G	T	15: 59,337,276	T1033K	probably damaging	Het

Other mutations in Chat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01618:Chat	APN	14	32446892	splice site	probably null
IGL02192:Chat	APN	14	32423322	missense	possibly damaging	0.94
IGL02418:Chat	APN	14	32446949	missense	possibly damaging	0.74
IGL02851:Chat	APN	14	32458613	missense	probably benign
IGL02966:Chat	APN	14	32448946	missense	probably damaging	1.00
IGL03401:Chat	APN	14	32452569	missense	probably damaging	1.00
R0511:Chat	UTSW	14	32409019	missense	probably damaging	1.00
R1462:Chat	UTSW	14	32420778	missense	probably damaging	1.00
R1462:Chat	UTSW	14	32420778	missense	probably damaging	1.00
R1729:Chat	UTSW	14	32446795	missense	probably damaging	1.00
R1782:Chat	UTSW	14	32408987	missense	probably damaging	1.00
R1972:Chat	UTSW	14	32424191	missense	probably benign	0.03
R1973:Chat	UTSW	14	32424191	missense	probably benign	0.03
R2061:Chat	UTSW	14	32446873	missense	probably benign	0.00
R2270:Chat	UTSW	14	32454581	missense	probably damaging	0.99
R4012:Chat	UTSW	14	32423312	missense	possibly damaging	0.56
R4601:Chat	UTSW	14	32424155	missense	probably benign	0.00
R4620:Chat	UTSW	14	32453818	missense	probably damaging	1.00
R4760:Chat	UTSW	14	32453737	missense	probably benign
R4885:Chat	UTSW	14	32454610	missense	probably damaging	1.00
R4899:Chat	UTSW	14	32448977	missense	possibly damaging	0.80
R4940:Chat	UTSW	14	32419105	missense	probably damaging	1.00
R4960:Chat	UTSW	14	32420814	missense	possibly damaging	0.86
R5094:Chat	UTSW	14	32408939	missense	probably damaging	1.00
R6039:Chat	UTSW	14	32449027	missense	probably damaging	1.00
R6039:Chat	UTSW	14	32449027	missense	probably damaging	1.00
R6621:Chat	UTSW	14	32419013	missense	probably damaging	0.97
R6648:Chat	UTSW	14	32454694	missense	probably benign	0.17
R6980:Chat	UTSW	14	32424154	missense	probably benign	0.15
R7203:Chat	UTSW	14	32419057	missense	probably damaging	1.00
R7336:Chat	UTSW	14	32423256	splice site	probably null
R7530:Chat	UTSW	14	32408958	nonsense	probably null
X0014:Chat	UTSW	14	32446933	missense	probably benign	0.01
X0066:Chat	UTSW	14	32453831	missense	probably damaging	1.00

Posted On

2012-12-06