Mutagenetix > Incidental Mutation

Incidental Mutation 'R7336:Chat'

580619

Institutional Source

Beutler Lab

Gene Symbol

Chat

Ensembl Gene

ENSMUSG00000021919

Gene Name

choline acetyltransferase

Synonyms

B230380D24Rik

MMRRC Submission

045426-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.902) question?

Stock #

R7336 (G1)

Quality Score

224.009

Status

Validated

Chromosome

Chromosomal Location

32130160-32187866 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 32145213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000070865 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000070125

SMART Domains

Protein: ENSMUSP00000070865
Gene: ENSMUSG00000021919

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (80/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	G	A	3: 59,840,174 (GRCm39)		probably null	Het
Abca15	A	T	7: 119,987,456 (GRCm39)	Q1247H	possibly damaging	Het
Acsf2	G	C	11: 94,462,476 (GRCm39)	Q180E	probably benign	Het
Adamts8	A	G	9: 30,873,363 (GRCm39)	D856G	probably benign	Het
Agrn	A	T	4: 156,259,371 (GRCm39)	C828*	probably null	Het
Ankub1	T	C	3: 57,573,108 (GRCm39)	T205A	probably benign	Het
Atm	A	T	9: 53,373,803 (GRCm39)	Y2150N	possibly damaging	Het
Barhl1	A	G	2: 28,799,855 (GRCm39)	F257L	probably benign	Het
Bcat2	T	A	7: 45,224,909 (GRCm39)	C27S	probably benign	Het
Bod1l	G	A	5: 41,978,867 (GRCm39)	R816C	probably damaging	Het
Btg3	A	G	16: 78,161,695 (GRCm39)	Y172H	probably benign	Het
Cacna1d	T	C	14: 29,767,239 (GRCm39)	D1940G	probably benign	Het
Catsperg2	T	A	7: 29,406,026 (GRCm39)	N624I	possibly damaging	Het
Ccdc146	A	G	5: 21,508,110 (GRCm39)	V646A	probably benign	Het
Ccp110	C	T	7: 118,321,433 (GRCm39)	P363S	probably damaging	Het
Cct4	C	A	11: 22,951,564 (GRCm39)	T377K	possibly damaging	Het
Cemip2	C	A	19: 21,803,509 (GRCm39)	Y847*	probably null	Het
Cep350	T	A	1: 155,738,022 (GRCm39)	H2607L	probably benign	Het
Cfap46	A	G	7: 139,200,020 (GRCm39)	F1954L	unknown	Het
Clasp2	A	G	9: 113,705,421 (GRCm39)		probably null	Het
Cldn9	T	C	17: 23,901,989 (GRCm39)	D212G	probably benign	Het
Cp	G	A	3: 20,018,696 (GRCm39)		probably null	Het
Cyfip1	T	A	7: 55,576,148 (GRCm39)	I1108N	possibly damaging	Het
Dnah14	A	G	1: 181,625,299 (GRCm39)	D4060G	probably damaging	Het
Dpyd	A	G	3: 118,858,570 (GRCm39)	T595A	probably damaging	Het
Eps8	G	A	6: 137,486,211 (GRCm39)	R434C	possibly damaging	Het
Fasl	A	G	1: 161,615,557 (GRCm39)	Y100H	probably damaging	Het
Fkbp9	A	T	6: 56,826,712 (GRCm39)	N104I	probably damaging	Het
Frmd4a	A	G	2: 4,478,025 (GRCm39)	T65A	possibly damaging	Het
Gm1110	T	C	9: 26,825,653 (GRCm39)	N102S	probably damaging	Het
Gm2381	T	C	7: 42,471,804 (GRCm39)	Q25R	possibly damaging	Het
Gtpbp2	A	G	17: 46,472,239 (GRCm39)	Y58C	probably damaging	Het
H2-T3	C	A	17: 36,498,237 (GRCm39)	K269N	probably damaging	Het
Icosl	C	A	10: 77,909,707 (GRCm39)	Y217*	probably null	Het
Il17rd	G	T	14: 26,809,503 (GRCm39)	R153L	probably benign	Het
Kif17	C	A	4: 138,025,617 (GRCm39)	T973K	possibly damaging	Het
Klk1b16	A	G	7: 43,790,907 (GRCm39)	I236M	probably benign	Het
Lgmn	G	A	12: 102,389,998 (GRCm39)		probably benign	Het
Lmbr1l	T	C	15: 98,811,468 (GRCm39)	D54G	possibly damaging	Het
Lrrc49	A	T	9: 60,584,474 (GRCm39)	I196N	possibly damaging	Het
Maml1	C	T	11: 50,157,276 (GRCm39)	A300T	possibly damaging	Het
Mapkap1	A	T	2: 34,423,829 (GRCm39)	Q293L	possibly damaging	Het
Mki67	T	C	7: 135,315,568 (GRCm39)	T69A	probably benign	Het
Mlph	G	A	1: 90,849,705 (GRCm39)		probably null	Het
Myh1	A	T	11: 67,111,435 (GRCm39)	M1625L	probably benign	Het
Myh3	G	T	11: 66,981,847 (GRCm39)	R781L	probably benign	Het
Nckap5	A	T	1: 125,953,786 (GRCm39)	I922K	probably benign	Het
Nlrp5	T	A	7: 23,117,059 (GRCm39)	M261K	probably damaging	Het
Or1e1d-ps1	G	A	11: 73,819,663 (GRCm39)	M204I	probably benign	Het
Or4f47	A	T	2: 111,972,514 (GRCm39)	S75C	possibly damaging	Het
Or5af1	T	A	11: 58,722,750 (GRCm39)	Y257N	probably damaging	Het
Or8g52	A	G	9: 39,630,906 (GRCm39)	N128D	probably benign	Het
Pak1	T	A	7: 97,538,179 (GRCm39)	V262E	probably benign	Het
Pigw	A	T	11: 84,767,930 (GRCm39)	D466E	probably damaging	Het
Pira2	A	T	7: 3,847,344 (GRCm39)	L115Q	probably damaging	Het
Rbm15	A	C	3: 107,240,432 (GRCm39)		probably benign	Het
Rfx1	A	G	8: 84,800,385 (GRCm39)		probably benign	Het
Rfx7	A	G	9: 72,500,639 (GRCm39)	Y133C	probably damaging	Het
Serpinb9d	T	A	13: 33,384,702 (GRCm39)	D226E	probably benign	Het
Sgk3	G	A	1: 9,954,701 (GRCm39)	A271T	possibly damaging	Het
Sh2d5	T	A	4: 137,984,150 (GRCm39)	C173S	probably benign	Het
Skint8	T	C	4: 111,796,769 (GRCm39)	V291A	probably benign	Het
Slc22a27	T	A	19: 7,904,054 (GRCm39)	N28Y	probably benign	Het
Slc25a54	G	A	3: 109,023,751 (GRCm39)	V449I	probably benign	Het
Slc39a9	T	C	12: 80,726,316 (GRCm39)	F255S	probably damaging	Het
Spata31d1c	C	T	13: 65,183,942 (GRCm39)	H495Y	probably damaging	Het
Stab2	G	A	10: 86,805,049 (GRCm39)	Q310*	probably null	Het
Supt16	C	A	14: 52,408,948 (GRCm39)	A809S	possibly damaging	Het
Tenm3	A	T	8: 48,689,212 (GRCm39)	M2125K	possibly damaging	Het
Tex2	G	A	11: 106,439,685 (GRCm39)	T565M	unknown	Het
Tll1	G	A	8: 64,478,176 (GRCm39)	A859V	probably damaging	Het
Tmem106c	C	T	15: 97,867,512 (GRCm39)	T232I	possibly damaging	Het
Trim65	T	G	11: 116,019,116 (GRCm39)	D141A	probably benign	Het
Trim80	T	C	11: 115,332,042 (GRCm39)	F78S	probably damaging	Het
Txnrd1	T	A	10: 82,709,051 (GRCm39)	I83N	probably benign	Het
Vnn3	G	A	10: 23,727,806 (GRCm39)	G72D	probably benign	Het
Wasl	G	T	6: 24,619,686 (GRCm39)	P278Q	unknown	Het
Wdr62	A	T	7: 29,943,342 (GRCm39)	L951Q	probably damaging	Het
Zfp760	C	T	17: 21,942,814 (GRCm39)	T663I	unknown	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
IGL02192:Chat	APN	14	32,145,279 (GRCm39)	missense	possibly damaging	0.94
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
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

Predicted Primers

PCR Primer
(F):5'- AGACATTCGAGCAAGGTTATTTCC -3'
(R):5'- AAATTTCAGGGGCTGTGCAC -3'

Sequencing Primer
(F):5'- CGAGCAAGGTTATTTCCTGAGAACC -3'
(R):5'- CTTGCACAGGAAAGCTGTGCTG -3'

Posted On

2019-10-14