Mutagenetix > Incidental Mutation

Incidental Mutation 'R4885:Chat'

375662

Institutional Source

Beutler Lab

Gene Symbol

Chat

Ensembl Gene

ENSMUSG00000021919

Gene Name

choline acetyltransferase

Synonyms

B230380D24Rik

MMRRC Submission

042851-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.902) question?

Stock #

R4885 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32130160-32187866 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 32176567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Alanine at position 69 (G69A)

Ref Sequence

ENSEMBL: ENSMUSP00000070865 (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 damaging
Transcript: ENSMUST00000070125
AA Change: G69A

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

SMART Domains

Protein: ENSMUSP00000070865
Gene: ENSMUSG00000021919
AA Change: G69A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000226351

Predicted Effect

probably damaging
Transcript: ENSMUST00000226365
AA Change: G69A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000227579
AA Change: G69A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

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

0.7480

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

99% (77/78)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	A	G	16: 20,370,425 (GRCm39)	T317A	probably benign	Het
Adck1	G	A	12: 88,407,865 (GRCm39)	A199T	probably benign	Het
Adgrb1	A	T	15: 74,444,011 (GRCm39)	M1038L	probably benign	Het
Anapc10	C	T	8: 80,455,779 (GRCm39)	T76I	probably benign	Het
Atosa	T	C	9: 74,913,649 (GRCm39)	L94P	probably damaging	Het
Bptf	C	T	11: 106,965,474 (GRCm39)	S1177N	probably benign	Het
Bsn	A	T	9: 107,984,726 (GRCm39)	Y337*	probably null	Het
Ccl20	T	A	1: 83,095,580 (GRCm39)	V48E	possibly damaging	Het
Ccnl1	C	T	3: 65,864,320 (GRCm39)	D122N	probably damaging	Het
Cr2	T	A	1: 194,841,039 (GRCm39)	I418F	possibly damaging	Het
Dmxl1	G	C	18: 50,011,862 (GRCm39)	A1340P	probably damaging	Het
Eef2k	G	A	7: 120,491,155 (GRCm39)	R547Q	probably benign	Het
Eml2	G	A	7: 18,937,935 (GRCm39)	S793N	probably benign	Het
Enox1	T	A	14: 77,958,290 (GRCm39)	L632Q	probably damaging	Het
Fabp9	T	C	3: 10,259,738 (GRCm39)	K92E	probably damaging	Het
Fam234a	T	C	17: 26,432,559 (GRCm39)	H530R	probably benign	Het
Fancm	C	T	12: 65,149,417 (GRCm39)	Q728*	probably null	Het
Fgd3	G	A	13: 49,417,465 (GRCm39)	T666M	possibly damaging	Het
Foxs1	T	C	2: 152,774,301 (GRCm39)	M251V	probably benign	Het
Fsip2	A	T	2: 82,818,438 (GRCm39)	M4724L	probably benign	Het
Gemin6	G	A	17: 80,535,327 (GRCm39)	E96K	probably damaging	Het
Gfi1	C	A	5: 107,871,152 (GRCm39)	V80F	probably damaging	Het
H3c13	G	T	3: 96,176,277 (GRCm39)	V90F	possibly damaging	Het
Hectd1	A	G	12: 51,847,505 (GRCm39)	V442A	probably damaging	Het
Ift80	A	G	3: 68,857,829 (GRCm39)	I272T	probably damaging	Het
Impact	C	G	18: 13,119,430 (GRCm39)	A214G	probably damaging	Het
Insl6	C	T	19: 29,302,556 (GRCm39)	E54K	probably benign	Het
Irak3	T	A	10: 120,018,586 (GRCm39)	D54V	probably damaging	Het
Itk	C	T	11: 46,227,171 (GRCm39)		probably null	Het
Ivl	A	T	3: 92,479,718 (GRCm39)	C116S	probably benign	Het
Kcnq4	G	A	4: 120,570,260 (GRCm39)	A361V	probably benign	Het
L1td1	C	T	4: 98,625,548 (GRCm39)	P581L	probably benign	Het
Lrp1b	T	C	2: 41,358,905 (GRCm39)	E656G	probably benign	Het
Macrod2	A	G	2: 140,261,985 (GRCm39)	T89A	possibly damaging	Het
Mettl13	T	C	1: 162,364,837 (GRCm39)	D514G	probably damaging	Het
Mfsd13b	A	T	7: 120,590,711 (GRCm39)	I151F	possibly damaging	Het
Mical3	G	A	6: 120,912,214 (GRCm39)	P1882S	probably damaging	Het
Mycbp2	T	C	14: 103,383,382 (GRCm39)	E394G	possibly damaging	Het
Myo16	T	A	8: 10,488,892 (GRCm39)	S688T	probably damaging	Het
Neb	T	C	2: 52,176,058 (GRCm39)	Y1467C	probably damaging	Het
Nhsl3	C	T	4: 129,118,238 (GRCm39)	R214Q	probably damaging	Het
Nkx6-3	C	A	8: 23,643,914 (GRCm39)	P105Q	possibly damaging	Het
Nlrp1b	T	C	11: 71,108,710 (GRCm39)	T264A	possibly damaging	Het
Nnat	G	A	2: 157,403,678 (GRCm39)	C122Y	probably damaging	Het
Notch3	G	A	17: 32,360,351 (GRCm39)	R1527C	probably damaging	Het
Or2y16	C	T	11: 49,335,449 (GRCm39)	T257I	probably damaging	Het
Or5an1c	T	G	19: 12,218,082 (GRCm39)		probably null	Het
Or5h18	A	G	16: 58,847,518 (GRCm39)	Y251H	probably damaging	Het
Pds5b	C	T	5: 150,639,927 (GRCm39)	T14I	probably benign	Het
Phf19	A	T	2: 34,789,718 (GRCm39)	I334N	probably damaging	Het
Pik3ap1	T	C	19: 41,364,365 (GRCm39)	D118G	probably benign	Het
Pkhd1	T	A	1: 20,140,712 (GRCm39)	E3886V	possibly damaging	Het
Pkp1	A	G	1: 135,846,690 (GRCm39)	S21P	possibly damaging	Het
Pramel32	T	A	4: 88,546,219 (GRCm39)	L374F	possibly damaging	Het
Rack1	C	A	11: 48,696,463 (GRCm39)	A290E	probably damaging	Het
Rbm15	A	G	3: 107,239,570 (GRCm39)	V276A	probably benign	Het
Rnf216	A	T	5: 143,076,335 (GRCm39)	L183*	probably null	Het
Sc5d	T	C	9: 42,166,922 (GRCm39)	I206V	probably benign	Het
Scpep1	A	G	11: 88,826,737 (GRCm39)	I233T	probably benign	Het
Sh3pxd2a	A	G	19: 47,257,132 (GRCm39)	Y529H	probably damaging	Het
Slc1a4	A	C	11: 20,254,384 (GRCm39)	V494G	probably damaging	Het
Slc38a7	T	C	8: 96,575,230 (GRCm39)	T17A	probably benign	Het
Smg6	T	C	11: 74,932,744 (GRCm39)	S73P	probably damaging	Het
Stk32b	T	C	5: 37,624,141 (GRCm39)	Y202C	probably damaging	Het
Tas2r140	A	G	6: 40,468,334 (GRCm39)	S55G	probably damaging	Het
Tcf12	C	T	9: 71,766,122 (GRCm39)	G504S	probably null	Het
Ttc3	G	C	16: 94,227,690 (GRCm39)		probably null	Het
Ttc3	T	C	16: 94,220,324 (GRCm39)	I568T	probably damaging	Het
Ttc41	T	G	10: 86,594,966 (GRCm39)	N913K	possibly damaging	Het
Vrk1	G	A	12: 106,024,231 (GRCm39)	V236M	probably damaging	Het
Wscd1	C	T	11: 71,650,972 (GRCm39)	R100C	probably damaging	Het
Zc3h18	C	T	8: 123,128,445 (GRCm39)		probably benign	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
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'- TGCTACCAGTGTGTTCCCAC -3'
(R):5'- TTCTGGCATCAATCAACTCAAGG -3'

Sequencing Primer
(F):5'- AGTGTGTTCCCACCCTCTG -3'
(R):5'- TGGCATCAATCAACTCAAGGAAAAG -3'

Posted On

2016-03-17