Mutagenetix > Incidental Mutation

Incidental Mutation 'R1973:Chat'

221296

Institutional Source

Beutler Lab

Gene Symbol

Chat

Ensembl Gene

ENSMUSG00000021919

Gene Name

choline acetyltransferase

Synonyms

B230380D24Rik

MMRRC Submission

039986-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.911) question?

Stock #

R1973 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32130160-32187866 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 32146148 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 342 (V342I)

Ref Sequence

ENSEMBL: ENSMUSP00000070865 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000070125
AA Change: V342I

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000070865
Gene: ENSMUSG00000021919
AA Change: V342I

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

Meta Mutation Damage Score

0.0815

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	C	5: 8,862,746 (GRCm39)	I143L	probably benign	Het
Acp7	T	A	7: 28,307,414 (GRCm39)	D481V	probably damaging	Het
AI597479	T	A	1: 43,150,286 (GRCm39)	I132K	probably benign	Het
Anxa13	T	C	15: 58,228,030 (GRCm39)		noncoding transcript	Het
Brca1	A	T	11: 101,417,229 (GRCm39)	C302S	probably benign	Het
Brd8	T	A	18: 34,741,066 (GRCm39)	D420V	probably damaging	Het
Cacna1g	A	T	11: 94,350,603 (GRCm39)	V414E	possibly damaging	Het
Ccdc142	T	A	6: 83,079,544 (GRCm39)	C294S	probably benign	Het
Cdh20	G	A	1: 109,988,862 (GRCm39)	V255I	probably benign	Het
Chd6	A	G	2: 160,808,307 (GRCm39)	S1636P	probably damaging	Het
Clec4a1	A	G	6: 122,901,793 (GRCm39)		probably null	Het
Col6a3	A	T	1: 90,731,897 (GRCm39)	I1452N	probably damaging	Het
Dennd2c	T	C	3: 103,039,014 (GRCm39)	V54A	probably benign	Het
Dnah1	C	T	14: 30,987,348 (GRCm39)	W3550*	probably null	Het
Efl1	T	C	7: 82,412,085 (GRCm39)	S825P	probably damaging	Het
Entrep2	A	T	7: 64,425,516 (GRCm39)	I192N	possibly damaging	Het
Faxc	G	A	4: 21,993,405 (GRCm39)	E350K	probably benign	Het
Frem2	T	A	3: 53,559,653 (GRCm39)	Y1618F	probably benign	Het
Fubp3	A	G	2: 31,493,298 (GRCm39)	T6A	probably benign	Het
Gm5814	A	T	17: 47,721,474 (GRCm39)	M63L	probably benign	Het
Gpr149	T	C	3: 62,438,216 (GRCm39)	K647R	probably benign	Het
Iqgap3	T	A	3: 87,991,235 (GRCm39)		probably null	Het
Kcnh3	T	C	15: 99,127,281 (GRCm39)	V359A	probably damaging	Het
Kit	G	A	5: 75,776,102 (GRCm39)	A295T	probably damaging	Het
Krt77	G	T	15: 101,769,679 (GRCm39)	A397E	probably damaging	Het
Mis18bp1	G	C	12: 65,195,850 (GRCm39)	S638*	probably null	Het
Neurl4	C	T	11: 69,800,118 (GRCm39)	P1091S	probably benign	Het
Nod2	A	T	8: 89,379,501 (GRCm39)	M8L	probably damaging	Het
Nos1	A	G	5: 118,074,491 (GRCm39)	T1046A	possibly damaging	Het
Nsfl1c	G	T	2: 151,347,334 (GRCm39)	S202I	probably damaging	Het
Nuak2	A	T	1: 132,258,340 (GRCm39)	H257L	probably damaging	Het
Nwd1	T	C	8: 73,431,590 (GRCm39)	V1195A	possibly damaging	Het
Or10k2	T	C	8: 84,268,421 (GRCm39)	V216A	probably benign	Het
Or2ag12	T	C	7: 106,277,426 (GRCm39)	D89G	probably benign	Het
Or52a20	T	A	7: 103,365,804 (GRCm39)	M1K	probably null	Het
Or8b40	T	A	9: 38,027,863 (GRCm39)	M257K	possibly damaging	Het
Or8g51	A	G	9: 38,609,164 (GRCm39)	V170A	probably damaging	Het
Pclo	G	T	5: 14,726,073 (GRCm39)		probably null	Het
Pnpla7	A	G	2: 24,906,629 (GRCm39)	D664G	probably damaging	Het
Prl8a1	G	A	13: 27,760,917 (GRCm39)	T105I	probably benign	Het
Ptger1	C	A	8: 84,396,083 (GRCm39)	T380K	probably benign	Het
Ptk7	G	A	17: 46,897,733 (GRCm39)	Q282*	probably null	Het
Ptpn18	G	T	1: 34,502,190 (GRCm39)	D45Y	probably damaging	Het
Rab11fip3	T	C	17: 26,243,365 (GRCm39)	D589G	probably damaging	Het
Rara	A	G	11: 98,862,496 (GRCm39)	N299S	possibly damaging	Het
Rpl13a	T	A	7: 44,775,419 (GRCm39)	K368*	probably null	Het
Rslcan18	T	C	13: 67,256,087 (GRCm39)		probably benign	Het
Rtel1	A	G	2: 180,993,419 (GRCm39)	Y731C	probably benign	Het
Sec16a	A	T	2: 26,316,501 (GRCm39)	S1666R	probably damaging	Het
Sis	A	G	3: 72,828,337 (GRCm39)	F1217S	probably damaging	Het
Slc10a7	T	A	8: 79,423,962 (GRCm39)		probably null	Het
Slc22a7	A	G	17: 46,748,016 (GRCm39)	V214A	probably damaging	Het
Slc26a8	T	C	17: 28,882,579 (GRCm39)	I249V	probably benign	Het
Slc38a4	T	C	15: 96,897,478 (GRCm39)	K446E	probably benign	Het
Sned1	G	A	1: 93,192,795 (GRCm39)	G361S	probably damaging	Het
Spef2	T	G	15: 9,663,152 (GRCm39)	*876C	probably null	Het
Spink11	A	G	18: 44,329,205 (GRCm39)	C14R	unknown	Het
Stk4	C	T	2: 163,942,448 (GRCm39)	T360M	probably benign	Het
Tnfaip3	T	C	10: 18,880,252 (GRCm39)	N605S	probably damaging	Het
Trpc1	A	G	9: 95,605,308 (GRCm39)	M283T	probably benign	Het
Ttn	A	G	2: 76,544,706 (GRCm39)	S32799P	probably damaging	Het
Ttn	A	G	2: 76,550,443 (GRCm39)	I31613T	probably damaging	Het
Ugt1a10	A	T	1: 87,983,769 (GRCm39)	Y189F	probably damaging	Het
Usp32	G	T	11: 84,994,757 (GRCm39)	L52I	probably benign	Het
Usp33	A	G	3: 152,065,923 (GRCm39)	T68A	possibly damaging	Het
Vmn1r7	A	G	6: 57,002,011 (GRCm39)	F83S	probably benign	Het
Vmn2r5	C	T	3: 64,411,642 (GRCm39)	E309K	probably damaging	Het
Vps26c	T	C	16: 94,302,405 (GRCm39)	N267S	probably damaging	Het
Wdr43	A	G	17: 71,947,235 (GRCm39)	N364D	probably benign	Het
Zdbf2	C	A	1: 63,348,860 (GRCm39)	P2413Q	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
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

Predicted Primers

PCR Primer
(F):5'- GGCTCATAACGCTCATTTTGC -3'
(R):5'- GAGGCTTCCATACTGTTGGG -3'

Sequencing Primer
(F):5'- ATAACGCTCATTTTGCAGTCTTTG -3'
(R):5'- GGTACCTACAGCCATCTGCAG -3'

Posted On

2014-08-25