Mutagenetix > Incidental Mutation

Incidental Mutation 'R1462:Chat'

186344

Institutional Source

Beutler Lab

Gene Symbol

Chat

Ensembl Gene

ENSMUSG00000021919

Gene Name

choline acetyltransferase

Synonyms

B230380D24Rik

MMRRC Submission

039516-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.899) question?

Stock #

R1462 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32408203-32465989 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32420778 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 418 (K418R)

Ref Sequence

ENSEMBL: ENSMUSP00000070865 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000070125
AA Change: K418R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000070865
Gene: ENSMUSG00000021919
AA Change: K418R

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

Meta Mutation Damage Score

0.3295

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 92.0%

Validation Efficiency

99% (83/84)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	C	A	7: 40,992,946	S104*	probably null	Het
A430093F15Rik	A	T	19: 10,785,481		probably benign	Het
Abca13	T	A	11: 9,483,924		probably benign	Het
Abca9	T	C	11: 110,160,516	D118G	probably benign	Het
AC239677.1	T	A	5: 25,951,625	I119F	possibly damaging	Het
Adamts16	A	G	13: 70,836,134	F137L	probably benign	Het
Adamts3	T	C	5: 89,861,349	I152V	probably benign	Het
Adcy4	T	A	14: 55,778,308	E441D	possibly damaging	Het
Adgra1	T	A	7: 139,875,829	Y458N	probably damaging	Het
Atpaf1	C	T	4: 115,784,953		probably benign	Het
Bhlhe22	C	G	3: 18,055,782	S332C	probably damaging	Het
Card19	T	A	13: 49,205,284	Q71L	probably benign	Het
Ccdc12	T	C	9: 110,656,594	L11P	probably damaging	Het
Ccdc129	A	G	6: 55,975,664	H864R	probably damaging	Het
Cdadc1	A	G	14: 59,575,858	Y367H	probably damaging	Het
Cdc5l	G	T	17: 45,408,362	Q542K	possibly damaging	Het
Cep170	T	C	1: 176,756,645	K723E	possibly damaging	Het
Cep70	A	G	9: 99,263,720	I147V	probably benign	Het
Cfap58	A	T	19: 47,962,430	H410L	probably damaging	Het
Cic	T	G	7: 25,271,607	D254E	probably damaging	Het
Ckap4	T	C	10: 84,527,567	E544G	probably damaging	Het
Crnkl1	C	T	2: 145,921,819	A500T	probably damaging	Het
Cyp2c38	T	C	19: 39,392,188	N418D	probably damaging	Het
Daam1	A	T	12: 71,944,142	I177L	unknown	Het
Dnah1	T	C	14: 31,268,781		probably benign	Het
Ercc5	A	G	1: 44,180,624	T1019A	probably damaging	Het
F13b	T	A	1: 139,507,636	V173E	probably damaging	Het
Fam126a	A	G	5: 23,985,732		probably benign	Het
Fam135b	A	G	15: 71,621,996		probably benign	Het
Fam20a	A	C	11: 109,677,317	F316V	probably damaging	Het
Flrt2	T	C	12: 95,779,338	V150A	probably damaging	Het
Fnta	A	C	8: 25,999,571		probably null	Het
Ghsr	A	G	3: 27,371,876	D27G	probably benign	Het
Glis3	G	T	19: 28,262,518		probably benign	Het
Gm5155	T	G	7: 17,915,591		noncoding transcript	Het
Gtpbp1	A	G	15: 79,707,885	N96D	probably damaging	Het
H1fnt	A	T	15: 98,256,573	W232R	unknown	Het
Ibtk	A	T	9: 85,724,145	I443N	probably damaging	Het
Ifi207	T	C	1: 173,724,947	H968R	probably damaging	Het
Ifit2	A	G	19: 34,573,186	D42G	probably null	Het
Il17rc	A	T	6: 113,478,989	D265V	probably damaging	Het
Ints10	G	A	8: 68,807,644		probably benign	Het
Itfg2	T	C	6: 128,424,728	D29G	probably damaging	Het
Kcng3	A	T	17: 83,631,063	C186S	probably damaging	Het
Lrrc1	A	G	9: 77,442,265	F295L	probably benign	Het
Mrps28	T	A	3: 8,900,124	H85L	possibly damaging	Het
Mtpn	T	A	6: 35,522,758	K37M	possibly damaging	Het
Mug1	C	T	6: 121,882,629	H1196Y	probably benign	Het
Mup4	T	C	4: 59,960,084	H60R	possibly damaging	Het
Musk	A	G	4: 58,286,204		probably benign	Het
Mybl2	T	C	2: 163,072,708	S249P	probably benign	Het
Naip6	A	G	13: 100,300,240	Y592H	possibly damaging	Het
Nrp1	A	G	8: 128,502,798	N919S	probably benign	Het
Nudt9	C	T	5: 104,065,038	Q326*	probably null	Het
Olfr1136	A	T	2: 87,693,376	C169S	probably damaging	Het
Olfr813	A	G	10: 129,857,231	T238A	probably damaging	Het
Olfr827	T	A	10: 130,210,723	I136F	probably benign	Het
Olfr829	T	A	9: 18,857,111	M162K	probably benign	Het
Pcsk4	T	C	10: 80,325,981	E142G	probably damaging	Het
Pde3a	C	A	6: 141,459,834	P471T	probably benign	Het
Pign	A	T	1: 105,585,002	V652E	possibly damaging	Het
Prkcb	T	A	7: 122,582,449	M420K	probably damaging	Het
Prr14	T	A	7: 127,473,988		probably null	Het
Rchy1	T	A	5: 91,957,882	Q69L	probably damaging	Het
Sccpdh	A	C	1: 179,681,560		probably benign	Het
Sec23ip	T	G	7: 128,766,138	S625A	probably benign	Het
Smpdl3b	A	G	4: 132,746,614	S47P	probably damaging	Het
Stil	G	A	4: 115,023,964	M568I	probably benign	Het
Syt3	T	A	7: 44,396,010	V558E	probably damaging	Het
Sytl3	A	G	17: 6,706,031		probably benign	Het
Szt2	A	G	4: 118,373,967	V2533A	unknown	Het
Tenm4	A	G	7: 96,704,153	Y384C	probably damaging	Het
Tfam	T	C	10: 71,235,550	E94G	probably damaging	Het
Tmbim7	A	G	5: 3,664,304	T14A	probably damaging	Het
Tmtc2	A	T	10: 105,573,705	Y15*	probably null	Het
Uhrf1	C	T	17: 56,318,035	A526V	probably damaging	Het
Vmn2r67	T	C	7: 85,155,838	D22G	probably benign	Het
Vmn2r96	A	G	17: 18,597,398	I412M	possibly damaging	Het
Vmn2r-ps69	T	A	7: 85,310,352		noncoding transcript	Het
Wdr17	A	T	8: 54,670,328	I479K	probably damaging	Het
Wt1	T	C	2: 105,166,831	V371A	probably damaging	Het
Zfp536	G	T	7: 37,479,310	S226Y	probably damaging	Het
Zfp827	T	C	8: 79,076,479	V560A	probably benign	Het

Other mutations in Chat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00861:Chat	APN	14	32,449,023 (GRCm38)	missense	probably damaging	0.98
IGL01618:Chat	APN	14	32,446,892 (GRCm38)	splice site	probably null
IGL02192:Chat	APN	14	32,423,322 (GRCm38)	missense	possibly damaging	0.94
IGL02418:Chat	APN	14	32,446,949 (GRCm38)	missense	possibly damaging	0.74
IGL02851:Chat	APN	14	32,458,613 (GRCm38)	missense	probably benign
IGL02966:Chat	APN	14	32,448,946 (GRCm38)	missense	probably damaging	1.00
IGL03401:Chat	APN	14	32,452,569 (GRCm38)	missense	probably damaging	1.00
R0511:Chat	UTSW	14	32,409,019 (GRCm38)	missense	probably damaging	1.00
R1462:Chat	UTSW	14	32,420,778 (GRCm38)	missense	probably damaging	1.00
R1729:Chat	UTSW	14	32,446,795 (GRCm38)	missense	probably damaging	1.00
R1782:Chat	UTSW	14	32,408,987 (GRCm38)	missense	probably damaging	1.00
R1972:Chat	UTSW	14	32,424,191 (GRCm38)	missense	probably benign	0.03
R1973:Chat	UTSW	14	32,424,191 (GRCm38)	missense	probably benign	0.03
R2061:Chat	UTSW	14	32,446,873 (GRCm38)	missense	probably benign	0.00
R2270:Chat	UTSW	14	32,454,581 (GRCm38)	missense	probably damaging	0.99
R4012:Chat	UTSW	14	32,423,312 (GRCm38)	missense	possibly damaging	0.56
R4601:Chat	UTSW	14	32,424,155 (GRCm38)	missense	probably benign	0.00
R4620:Chat	UTSW	14	32,453,818 (GRCm38)	missense	probably damaging	1.00
R4760:Chat	UTSW	14	32,453,737 (GRCm38)	missense	probably benign
R4885:Chat	UTSW	14	32,454,610 (GRCm38)	missense	probably damaging	1.00
R4899:Chat	UTSW	14	32,448,977 (GRCm38)	missense	possibly damaging	0.80
R4940:Chat	UTSW	14	32,419,105 (GRCm38)	missense	probably damaging	1.00
R4960:Chat	UTSW	14	32,420,814 (GRCm38)	missense	possibly damaging	0.86
R5094:Chat	UTSW	14	32,408,939 (GRCm38)	missense	probably damaging	1.00
R6039:Chat	UTSW	14	32,449,027 (GRCm38)	missense	probably damaging	1.00
R6039:Chat	UTSW	14	32,449,027 (GRCm38)	missense	probably damaging	1.00
R6621:Chat	UTSW	14	32,419,013 (GRCm38)	missense	probably damaging	0.97
R6648:Chat	UTSW	14	32,454,694 (GRCm38)	missense	probably benign	0.17
R6980:Chat	UTSW	14	32,424,154 (GRCm38)	missense	probably benign	0.15
R7203:Chat	UTSW	14	32,419,057 (GRCm38)	missense	probably damaging	1.00
R7336:Chat	UTSW	14	32,423,256 (GRCm38)	splice site	probably null
R7530:Chat	UTSW	14	32,408,958 (GRCm38)	nonsense	probably null
R8782:Chat	UTSW	14	32,424,198 (GRCm38)	missense	probably benign	0.00
R8941:Chat	UTSW	14	32,409,006 (GRCm38)	missense	probably benign	0.43
R9496:Chat	UTSW	14	32,426,162 (GRCm38)	missense	probably benign	0.00
R9560:Chat	UTSW	14	32,448,985 (GRCm38)	nonsense	probably null
X0014:Chat	UTSW	14	32,446,933 (GRCm38)	missense	probably benign	0.01
X0066:Chat	UTSW	14	32,453,831 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCAGTCCCTCATTTGTGACACC -3'
(R):5'- GGATGATAAGGGCTATGCACTCACC -3'

Sequencing Primer
(F):5'- AGCTCGGATGGTAACATCTC -3'
(R):5'- GGGCTATGCACTCACCTTCTG -3'

Posted On

2014-05-09