Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02192:Chat'

283923

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: 0.902) question?

Stock #

IGL02192

Quality Score

Status

Chromosome

Chromosomal Location

32130160-32187866 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32145279 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 377 (R377G)

Ref Sequence

ENSEMBL: ENSMUSP00000070865 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070125
AA Change: R377G

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000070865
Gene: ENSMUSG00000021919
AA Change: R377G

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

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	T	7: 28,597,825 (GRCm39)	M545K	possibly damaging	Het
Adamtsl1	A	G	4: 86,146,253 (GRCm39)	E303G	probably damaging	Het
Anxa13	A	T	15: 58,220,628 (GRCm39)		noncoding transcript	Het
Ap2b1	C	T	11: 83,237,592 (GRCm39)	T552I	possibly damaging	Het
Cars1	T	C	7: 143,125,325 (GRCm39)	S388G	probably damaging	Het
Cdh18	A	T	15: 23,460,402 (GRCm39)	D544V	probably damaging	Het
Col14a1	A	G	15: 55,225,798 (GRCm39)	T154A	unknown	Het
Col9a1	C	T	1: 24,261,068 (GRCm39)	P311S	probably damaging	Het
Cpsf3	G	T	12: 21,360,194 (GRCm39)		probably benign	Het
Cpsf3	G	T	12: 21,360,197 (GRCm39)		probably null	Het
Dock8	T	C	19: 25,055,569 (GRCm39)		probably null	Het
Eml6	A	G	11: 29,755,743 (GRCm39)	I837T	probably benign	Het
Epb41	T	C	4: 131,657,028 (GRCm39)	T792A	probably damaging	Het
Exph5	A	T	9: 53,287,625 (GRCm39)	R1569*	probably null	Het
F13b	A	T	1: 139,445,071 (GRCm39)	T574S	probably damaging	Het
Fam184b	G	T	5: 45,695,062 (GRCm39)	D727E	probably benign	Het
Fhip1a	A	G	3: 85,580,633 (GRCm39)	L524P	possibly damaging	Het
Fhod3	T	C	18: 25,189,415 (GRCm39)	L619P	probably damaging	Het
Fsd1l	A	G	4: 53,647,754 (GRCm39)	I66V	probably benign	Het
Fv1	A	G	4: 147,954,712 (GRCm39)	D426G	possibly damaging	Het
Gm3371	A	T	14: 44,641,235 (GRCm39)		probably benign	Het
Hnf1a	A	T	5: 115,098,177 (GRCm39)	S142T	probably damaging	Het
Itgb3	A	G	11: 104,534,765 (GRCm39)	I541V	probably benign	Het
Itgbl1	G	T	14: 124,081,338 (GRCm39)	C239F	probably damaging	Het
Krt26	C	T	11: 99,224,471 (GRCm39)	R349Q	probably benign	Het
Larp1b	G	T	3: 40,921,929 (GRCm39)	S116I	probably benign	Het
Lmtk3	A	G	7: 45,443,933 (GRCm39)		probably benign	Het
Mapk10	T	C	5: 103,137,513 (GRCm39)	I235V	probably damaging	Het
Mctp1	C	T	13: 76,879,887 (GRCm39)		probably benign	Het
Megf8	G	A	7: 25,053,285 (GRCm39)	D1819N	probably damaging	Het
Muc6	T	C	7: 141,217,717 (GRCm39)	T2254A	possibly damaging	Het
Nbr1	T	A	11: 101,460,417 (GRCm39)	S444T	probably damaging	Het
Ncor2	A	T	5: 125,101,301 (GRCm39)	D1956E	probably damaging	Het
Ndufaf5	T	C	2: 140,030,663 (GRCm39)	V183A	probably benign	Het
Nfasc	G	A	1: 132,498,219 (GRCm39)	T1155M	probably damaging	Het
Nol12	A	G	15: 78,821,374 (GRCm39)	E78G	probably damaging	Het
Npy5r	T	A	8: 67,133,998 (GRCm39)	H265L	probably benign	Het
Or10j2	T	A	1: 173,098,417 (GRCm39)	L225H	probably damaging	Het
Or8k16	G	A	2: 85,520,472 (GRCm39)	G233D	possibly damaging	Het
Pop1	A	G	15: 34,529,217 (GRCm39)	E749G	probably benign	Het
Ppil3	T	C	1: 58,477,547 (GRCm39)	I66V	probably damaging	Het
Prl4a1	C	A	13: 28,202,554 (GRCm39)	T43K	possibly damaging	Het
Prop1	A	G	11: 50,844,113 (GRCm39)		probably benign	Het
Qrsl1	A	T	10: 43,761,010 (GRCm39)	I218N	probably damaging	Het
Rbm22	T	A	18: 60,697,484 (GRCm39)	M63K	possibly damaging	Het
Rictor	T	C	15: 6,815,895 (GRCm39)	S1056P	probably benign	Het
Rps6kb2	T	C	19: 4,207,587 (GRCm39)	T388A	probably damaging	Het
Slc7a5	A	G	8: 122,613,129 (GRCm39)		probably benign	Het
Sp100	A	T	1: 85,635,722 (GRCm39)	D509V	probably damaging	Het
Spata18	G	T	5: 73,829,861 (GRCm39)		probably null	Het
Sspo	C	A	6: 48,436,502 (GRCm39)	T1254K	possibly damaging	Het
Stk19	A	G	17: 35,051,134 (GRCm39)		probably benign	Het
Taar8b	T	A	10: 23,967,262 (GRCm39)	I311F	probably damaging	Het
Themis2	C	A	4: 132,510,658 (GRCm39)		probably null	Het
Tll2	T	C	19: 41,074,702 (GRCm39)	Y937C	possibly damaging	Het
Trim34a	T	A	7: 103,896,939 (GRCm39)	M1K	probably null	Het
Usp50	G	A	2: 126,619,958 (GRCm39)	T118I	possibly damaging	Het
Vps13d	G	A	4: 144,875,428 (GRCm39)	S1693F	probably benign	Het
Vps16	T	A	2: 130,282,852 (GRCm39)	I467N	probably damaging	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het

Other mutations in Chat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00861:Chat	APN	14	32,170,980 (GRCm39)	missense	probably damaging	0.98
IGL01618:Chat	APN	14	32,168,849 (GRCm39)	splice site	probably null
IGL02418:Chat	APN	14	32,168,906 (GRCm39)	missense	possibly damaging	0.74
IGL02851:Chat	APN	14	32,180,570 (GRCm39)	missense	probably benign
IGL02966:Chat	APN	14	32,170,903 (GRCm39)	missense	probably damaging	1.00
IGL03401:Chat	APN	14	32,174,526 (GRCm39)	missense	probably damaging	1.00
R0511:Chat	UTSW	14	32,130,976 (GRCm39)	missense	probably damaging	1.00
R1462:Chat	UTSW	14	32,142,735 (GRCm39)	missense	probably damaging	1.00
R1462:Chat	UTSW	14	32,142,735 (GRCm39)	missense	probably damaging	1.00
R1729:Chat	UTSW	14	32,168,752 (GRCm39)	missense	probably damaging	1.00
R1782:Chat	UTSW	14	32,130,944 (GRCm39)	missense	probably damaging	1.00
R1972:Chat	UTSW	14	32,146,148 (GRCm39)	missense	probably benign	0.03
R1973:Chat	UTSW	14	32,146,148 (GRCm39)	missense	probably benign	0.03
R2061:Chat	UTSW	14	32,168,830 (GRCm39)	missense	probably benign	0.00
R2270:Chat	UTSW	14	32,176,538 (GRCm39)	missense	probably damaging	0.99
R4012:Chat	UTSW	14	32,145,269 (GRCm39)	missense	possibly damaging	0.56
R4601:Chat	UTSW	14	32,146,112 (GRCm39)	missense	probably benign	0.00
R4620:Chat	UTSW	14	32,175,775 (GRCm39)	missense	probably damaging	1.00
R4760:Chat	UTSW	14	32,175,694 (GRCm39)	missense	probably benign
R4885:Chat	UTSW	14	32,176,567 (GRCm39)	missense	probably damaging	1.00
R4899:Chat	UTSW	14	32,170,934 (GRCm39)	missense	possibly damaging	0.80
R4940:Chat	UTSW	14	32,141,062 (GRCm39)	missense	probably damaging	1.00
R4960:Chat	UTSW	14	32,142,771 (GRCm39)	missense	possibly damaging	0.86
R5094:Chat	UTSW	14	32,130,896 (GRCm39)	missense	probably damaging	1.00
R6039:Chat	UTSW	14	32,170,984 (GRCm39)	missense	probably damaging	1.00
R6039:Chat	UTSW	14	32,170,984 (GRCm39)	missense	probably damaging	1.00
R6621:Chat	UTSW	14	32,140,970 (GRCm39)	missense	probably damaging	0.97
R6648:Chat	UTSW	14	32,176,651 (GRCm39)	missense	probably benign	0.17
R6980:Chat	UTSW	14	32,146,111 (GRCm39)	missense	probably benign	0.15
R7203:Chat	UTSW	14	32,141,014 (GRCm39)	missense	probably damaging	1.00
R7336:Chat	UTSW	14	32,145,213 (GRCm39)	splice site	probably null
R7530:Chat	UTSW	14	32,130,915 (GRCm39)	nonsense	probably null
R8782:Chat	UTSW	14	32,146,155 (GRCm39)	missense	probably benign	0.00
R8941:Chat	UTSW	14	32,130,963 (GRCm39)	missense	probably benign	0.43
R9496:Chat	UTSW	14	32,148,119 (GRCm39)	missense	probably benign	0.00
R9560:Chat	UTSW	14	32,170,942 (GRCm39)	nonsense	probably null
X0014:Chat	UTSW	14	32,168,890 (GRCm39)	missense	probably benign	0.01
X0066:Chat	UTSW	14	32,175,788 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16