Mutagenetix > Incidental Mutation

Incidental Mutation 'R4760:Chat'

356828

Institutional Source

Beutler Lab

Gene Symbol

Chat

Ensembl Gene

ENSMUSG00000021919

Gene Name

choline acetyltransferase

Synonyms

B230380D24Rik

MMRRC Submission

041974-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.899) question?

Stock #

R4760 (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 32453737 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 122 (N122S)

Ref Sequence

ENSEMBL: ENSMUSP00000153738 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070125] [ENSMUST00000226351] [ENSMUST00000226365] [ENSMUST00000227579] [ENSMUST00000228256] [ENSMUST00000228420] [ENSMUST00000228511]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000070125
AA Change: N122S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000070865
Gene: ENSMUSG00000021919
AA Change: N122S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000226351

Predicted Effect

probably benign
Transcript: ENSMUST00000226365
AA Change: N122S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000227579
AA Change: N122S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227675

Predicted Effect

probably benign
Transcript: ENSMUST00000228256

Predicted Effect

probably benign
Transcript: ENSMUST00000228420

Predicted Effect

probably benign
Transcript: ENSMUST00000228511

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

98% (90/92)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,721,305 (GRCm38)	M723K	probably benign	Het
A530053G22Rik	A	G	6: 60,402,101 (GRCm38)		noncoding transcript	Het
Abcc2	A	T	19: 43,810,481 (GRCm38)	Y512F	probably benign	Het
Adgrb1	T	A	15: 74,571,463 (GRCm38)	I51N	probably damaging	Het
Adhfe1	A	G	1: 9,563,523 (GRCm38)	Y332C	probably damaging	Het
Ambn	C	T	5: 88,467,707 (GRCm38)	L317F	probably damaging	Het
Amn1	T	C	6: 149,185,113 (GRCm38)	Y17C	probably benign	Het
Apoa5	T	C	9: 46,270,295 (GRCm38)	V223A	probably damaging	Het
BC048403	T	C	10: 121,740,007 (GRCm38)	V11A	probably damaging	Het
Best3	A	T	10: 117,024,794 (GRCm38)	H653L	probably benign	Het
Btnl2	C	A	17: 34,363,195 (GRCm38)	S245Y	probably damaging	Het
Camk1d	A	G	2: 5,362,056 (GRCm38)	L116P	probably damaging	Het
Catsperg2	T	A	7: 29,705,635 (GRCm38)	D698V	probably damaging	Het
Cd33	T	C	7: 43,529,495 (GRCm38)	T307A	probably benign	Het
Cdk8	C	T	5: 146,292,666 (GRCm38)	S230L	probably benign	Het
Cfap69	C	T	5: 5,646,939 (GRCm38)	C119Y	probably damaging	Het
Col20a1	A	T	2: 180,984,403 (GRCm38)		probably benign	Het
Cyp2j9	A	T	4: 96,568,791 (GRCm38)	L481Q	probably damaging	Het
Dab1	A	C	4: 104,732,145 (GRCm38)	S550R	probably damaging	Het
Dlgap2	A	C	8: 14,773,380 (GRCm38)	Q533P	probably damaging	Het
Eif4g3	A	T	4: 138,084,318 (GRCm38)	Q31L	possibly damaging	Het
Ets2	G	A	16: 95,719,043 (GRCm38)	V438M	probably damaging	Het
Eva1c	G	A	16: 90,904,250 (GRCm38)	D258N	probably benign	Het
Fastkd2	A	G	1: 63,745,886 (GRCm38)	H477R	probably benign	Het
Fga	T	G	3: 83,031,514 (GRCm38)	S399A	probably benign	Het
Fmo4	T	A	1: 162,809,827 (GRCm38)	E32V	probably damaging	Het
Gm13083	G	A	4: 143,617,231 (GRCm38)	R367K	probably benign	Het
Gm1840	G	A	8: 5,640,473 (GRCm38)		noncoding transcript	Het
Gm7204	T	A	16: 48,218,688 (GRCm38)		noncoding transcript	Het
Hhipl1	A	G	12: 108,320,077 (GRCm38)	I548V	probably damaging	Het
Hsfy2	T	C	1: 56,637,190 (GRCm38)	T63A	probably benign	Het
Igf2r	A	G	17: 12,703,465 (GRCm38)	V1254A	possibly damaging	Het
Ighv8-4	A	T	12: 115,024,047 (GRCm38)	D110E	probably damaging	Het
Igkv14-130	T	C	6: 67,791,462 (GRCm38)	S101P	probably benign	Het
Igkv9-120	G	T	6: 68,050,367 (GRCm38)	R88S	possibly damaging	Het
Ipo5	T	C	14: 120,941,642 (GRCm38)	V779A	probably benign	Het
Itpr1	C	T	6: 108,349,632 (GRCm38)	T105I	probably benign	Het
Kalrn	T	C	16: 34,198,487 (GRCm38)	M670V	probably damaging	Het
Kdm8	T	A	7: 125,455,259 (GRCm38)		probably null	Het
L3hypdh	T	C	12: 72,077,242 (GRCm38)	I281V	probably benign	Het
Lins1	T	G	7: 66,714,687 (GRCm38)		probably benign	Het
Map4k5	T	A	12: 69,824,598 (GRCm38)	I517L	possibly damaging	Het
March2	G	T	17: 33,709,916 (GRCm38)	T2K	probably damaging	Het
Mlkl	C	G	8: 111,319,716 (GRCm38)		probably null	Het
Mllt1	A	G	17: 56,902,630 (GRCm38)	M160T	probably benign	Het
Mmp15	G	A	8: 95,368,196 (GRCm38)	A233T	possibly damaging	Het
Moxd2	C	A	6: 40,891,603 (GRCm38)	T23N	probably benign	Het
Nop53	C	A	7: 15,942,887 (GRCm38)	K100N	probably benign	Het
Nrg1	C	A	8: 31,918,200 (GRCm38)	E2*	probably null	Het
Olfr654	T	A	7: 104,588,489 (GRCm38)	H228Q	probably benign	Het
Pank4	A	G	4: 154,974,634 (GRCm38)	D408G	possibly damaging	Het
Pcdhb10	T	C	18: 37,411,942 (GRCm38)	W24R	probably benign	Het
Pcm1	C	T	8: 41,287,738 (GRCm38)	T968I	probably damaging	Het
Pkib	G	T	10: 57,708,150 (GRCm38)	M19I	probably benign	Het
Ppy	A	G	11: 102,100,519 (GRCm38)		probably null	Het
Prdx3	A	C	19: 60,873,183 (GRCm38)	C39W	possibly damaging	Het
Qrfpr	T	G	3: 36,221,924 (GRCm38)	N106H	probably benign	Het
Rai14	G	A	15: 10,575,690 (GRCm38)	T394M	possibly damaging	Het
Ralgapa2	A	T	2: 146,346,749 (GRCm38)	L1371Q	probably benign	Het
Rbm12	A	G	2: 156,097,128 (GRCm38)	L408P	probably damaging	Het
Rdx	T	C	9: 52,065,874 (GRCm38)	I141T	probably benign	Het
Reep1	T	A	6: 71,708,001 (GRCm38)	V11E	possibly damaging	Het
Sall4	A	G	2: 168,750,427 (GRCm38)	S936P	probably damaging	Het
Serac1	A	G	17: 6,051,790 (GRCm38)	M403T	possibly damaging	Het
Shroom3	G	T	5: 92,943,086 (GRCm38)	V1151F	probably damaging	Het
Slc35g2	T	G	9: 100,553,496 (GRCm38)	I41L	probably benign	Het
Slc39a12	G	A	2: 14,400,323 (GRCm38)	S242N	probably benign	Het
Slc9a2	T	A	1: 40,761,916 (GRCm38)	D535E	probably damaging	Het
Spata31d1a	G	T	13: 59,701,645 (GRCm38)	P890T	probably damaging	Het
Sync	A	G	4: 129,293,439 (GRCm38)	Q88R	probably benign	Het
Tdrp	A	G	8: 13,974,527 (GRCm38)		probably benign	Het
Tg	G	T	15: 66,693,319 (GRCm38)	C1170F	probably damaging	Het
Tnks	A	T	8: 34,851,783 (GRCm38)	D781E	probably benign	Het
Tnp2	T	A	16: 10,788,343 (GRCm38)	T87S	possibly damaging	Het
Tpp2	T	C	1: 43,971,715 (GRCm38)	V554A	probably benign	Het
Traf3ip2	T	C	10: 39,645,739 (GRCm38)	I431T	probably damaging	Het
Trav9d-4	A	T	14: 52,983,801 (GRCm38)	H84L	probably damaging	Het
Vmn2r42	T	A	7: 8,184,277 (GRCm38)	Y782F	probably damaging	Het
Vwf	T	C	6: 125,570,604 (GRCm38)	S231P	probably damaging	Het
Wdr83os	A	G	8: 85,081,867 (GRCm38)	S83G	probably damaging	Het
Wdr91	T	A	6: 34,908,299 (GRCm38)	Q109L	probably damaging	Het
Znrf4	A	G	17: 56,511,864 (GRCm38)	C148R	possibly damaging	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
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
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'- GTGTTTATTATGGAGTGACAGCAC -3'
(R):5'- CTGATGACCACTGCTAACACAG -3'

Sequencing Primer
(F):5'- GTGACAGCACACCTAACCTC -3'
(R):5'- GCTAACACAGTGCCTGTTTAG -3'

Posted On

2015-11-11