Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01618:Chat'

92466

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Chat

Ensembl Gene

ENSMUSG00000021919

Gene Name

choline acetyltransferase

Synonyms

B230380D24Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.889) question?

Stock #

IGL01618

Quality Score

Status

Chromosome

Chromosomal Location

32408203-32465989 bp(-) (GRCm38)

Type of Mutation

splice site (27 bp from exon)

DNA Base Change (assembly)

T to A at 32446892 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153738 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000070125
AA Change: I229L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000070865
Gene: ENSMUSG00000021919
AA Change: I229L

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

Predicted Effect

probably null
Transcript: ENSMUST00000226365

Predicted Effect

probably null
Transcript: ENSMUST00000227579

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	C	T	19: 55,272,833	A74V	probably benign	Het
Adh4	C	T	3: 138,429,027		probably benign	Het
Aldh1a3	G	A	7: 66,409,230	T239I	probably damaging	Het
Anxa9	A	G	3: 95,300,536		probably null	Het
Atp5k	C	A	5: 108,434,033	K28N	probably damaging	Het
C9	T	G	15: 6,459,668	Y169D	probably benign	Het
Cbwd1	T	C	19: 24,940,776	E210G	possibly damaging	Het
Csmd3	C	T	15: 48,011,083	E706K	probably benign	Het
Ctbs	A	G	3: 146,455,112	K145E	probably benign	Het
Dennd5a	A	G	7: 109,934,095	M156T	probably damaging	Het
Dhx29	A	G	13: 112,965,222	Y1275C	probably damaging	Het
Dpp10	A	T	1: 123,367,867	F517Y	probably benign	Het
Dst	G	A	1: 34,188,909	W1536*	probably null	Het
Galc	T	C	12: 98,252,081	T171A	possibly damaging	Het
Gsap	T	C	5: 21,226,248	I190T	probably damaging	Het
Hars2	A	T	18: 36,789,577	R388*	probably null	Het
Igsf21	C	T	4: 140,107,364	G66S	possibly damaging	Het
Itgbl1	T	A	14: 123,827,799	S122T	possibly damaging	Het
Jhy	G	T	9: 40,960,964	T83K	possibly damaging	Het
Kcne4	A	T	1: 78,817,808	M58L	possibly damaging	Het
Lamc3	T	A	2: 31,912,107	I509N	probably damaging	Het
Lpar6	T	C	14: 73,239,066	S156P	probably damaging	Het
Man2c1	T	C	9: 57,141,556		probably benign	Het
March11	T	C	15: 26,409,199	I328T	possibly damaging	Het
Mc3r	T	A	2: 172,249,370	C171S	probably benign	Het
Muc4	A	T	16: 32,756,627	Q2167L	unknown	Het
Myom1	T	C	17: 71,099,993	V1135A	possibly damaging	Het
Nectin1	C	T	9: 43,791,258	R101*	probably null	Het
Nxpe4	T	C	9: 48,394,140	S277P	possibly damaging	Het
Olfr1152	A	C	2: 87,868,144	D51A	probably damaging	Het
Olfr1459	T	A	19: 13,146,250	K136N	probably benign	Het
Olfr395	T	C	11: 73,907,477	N5S	probably damaging	Het
Olfr437	T	A	6: 43,167,703	V215E	probably damaging	Het
Olfr584	G	A	7: 103,086,375	V281I	probably benign	Het
Pappa2	G	T	1: 158,857,378	N730K	probably damaging	Het
Prepl	A	G	17: 85,066,281	V586A	probably damaging	Het
Prrc2a	T	C	17: 35,149,553	Y2098C	probably damaging	Het
Rdh16	G	A	10: 127,801,307	C37Y	probably damaging	Het
Rnd1	A	T	15: 98,673,865	M100K	probably benign	Het
Sema3c	A	G	5: 17,672,506	N204D	probably damaging	Het
Susd4	A	G	1: 182,858,461		probably null	Het
Taar7f	G	T	10: 24,050,341	A278S	possibly damaging	Het
Tle4	T	A	19: 14,544,814	M122L	probably benign	Het
Trim9	C	T	12: 70,248,351	V662I	probably benign	Het
Vmn2r10	C	A	5: 109,002,479	C233F	probably damaging	Het
Vmn2r98	A	C	17: 19,065,259	T114P	possibly damaging	Het
Zfyve21	C	T	12: 111,827,813		probably benign	Het

Other mutations in Chat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00861:Chat	APN	14	32449023	missense	probably damaging	0.98
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
R8782:Chat	UTSW	14	32424198	missense	probably benign	0.00
R8941:Chat	UTSW	14	32409006	missense	probably benign	0.43
R9496:Chat	UTSW	14	32426162	missense	probably benign	0.00
R9560:Chat	UTSW	14	32448985	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

2013-12-09