Mutagenetix > Incidental Mutation

Incidental Mutation 'R4899:Chat'

376036

Institutional Source

Beutler Lab

Gene Symbol

Chat

Ensembl Gene

ENSMUSG00000021919

Gene Name

choline acetyltransferase

Synonyms

B230380D24Rik

MMRRC Submission

042503-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.902) question?

Stock #

R4899 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32130160-32187866 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 32170934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 188 (S188R)

Ref Sequence

ENSEMBL: ENSMUSP00000153738 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070125] [ENSMUST00000226365] [ENSMUST00000227579]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000070125
AA Change: S188R

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000070865
Gene: ENSMUSG00000021919
AA Change: S188R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226365
AA Change: S188R

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227579
AA Change: S188R

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227675

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	C	G	3: 40,860,304 (GRCm39)		probably null	Het
Adra2c	A	T	5: 35,437,705 (GRCm39)	Y159F	probably damaging	Het
Alkal2	T	A	12: 30,934,972 (GRCm39)	S64T	probably benign	Het
Apbb1ip	T	C	2: 22,713,361 (GRCm39)	V72A	unknown	Het
Atp13a5	A	G	16: 29,197,318 (GRCm39)	L13P	probably damaging	Het
Azin2	G	A	4: 128,828,446 (GRCm39)	P254S	probably benign	Het
Bmpr1b	T	C	3: 141,546,444 (GRCm39)	R481G	probably damaging	Het
Cacna2d4	G	A	6: 119,245,157 (GRCm39)	W288*	probably null	Het
Cass4	A	G	2: 172,269,789 (GRCm39)	T626A	probably benign	Het
Cep112	T	A	11: 108,497,110 (GRCm39)	D683E	probably damaging	Het
Cfap300	A	T	9: 8,022,494 (GRCm39)	S243T	possibly damaging	Het
Cit	A	G	5: 116,001,087 (GRCm39)	Y162C	possibly damaging	Het
Clca3a1	T	A	3: 144,443,722 (GRCm39)	Y676F	probably damaging	Het
Clec2h	A	G	6: 128,652,787 (GRCm39)	N185D	probably benign	Het
Cnbd2	G	T	2: 156,181,141 (GRCm39)	V192F	probably benign	Het
Col6a3	C	A	1: 90,730,149 (GRCm39)	G1112V	probably damaging	Het
Csta2	A	T	16: 36,077,731 (GRCm39)	Y96F	possibly damaging	Het
Cyp3a25	A	G	5: 145,914,481 (GRCm39)	F483S	possibly damaging	Het
Dscam	T	C	16: 96,485,018 (GRCm39)	E1103G	probably benign	Het
Dync2h1	G	A	9: 7,131,921 (GRCm39)	Q1629*	probably null	Het
Enpp6	A	G	8: 47,440,118 (GRCm39)	Y38C	probably damaging	Het
Epg5	T	A	18: 78,028,272 (GRCm39)	L1271Q	probably damaging	Het
Fam47e	G	A	5: 92,722,528 (GRCm39)	V75I	probably benign	Het
Fat3	T	C	9: 15,881,095 (GRCm39)	D3259G	probably damaging	Het
Fbxw28	T	C	9: 109,159,921 (GRCm39)	D211G	probably damaging	Het
Flnc	A	G	6: 29,446,842 (GRCm39)	N990D	probably benign	Het
Frat1	T	G	19: 41,818,761 (GRCm39)	L52R	probably damaging	Het
Ftmt	C	G	18: 52,464,658 (GRCm39)		probably benign	Het
H2-M1	C	T	17: 36,982,112 (GRCm39)	G163D	probably benign	Het
Hapln1	A	G	13: 89,749,769 (GRCm39)	K105E	possibly damaging	Het
Igkv17-127	G	T	6: 67,838,381 (GRCm39)	A31S	probably benign	Het
Il6st	T	C	13: 112,637,695 (GRCm39)	L628P	probably damaging	Het
Kcnj6	A	G	16: 94,633,472 (GRCm39)	I213T	probably damaging	Het
Kidins220	T	C	12: 25,063,442 (GRCm39)		probably null	Het
Lama2	TTTGCGCATT	TTT	10: 26,919,639 (GRCm39)		probably null	Het
Llgl1	C	T	11: 60,600,394 (GRCm39)	P581L	probably benign	Het
Mertk	C	A	2: 128,625,845 (GRCm39)	P660Q	probably damaging	Het
Mrtfa	A	G	15: 80,902,587 (GRCm39)	Y241H	probably damaging	Het
Mtarc2	A	T	1: 184,577,821 (GRCm39)	I65N	probably damaging	Het
Napepld	A	G	5: 21,888,438 (GRCm39)	Y4H	probably benign	Het
Ncam1	T	A	9: 49,456,551 (GRCm39)		probably null	Het
Nuak2	A	T	1: 132,252,724 (GRCm39)	K93*	probably null	Het
Oat	A	T	7: 132,165,951 (GRCm39)	D211E	probably benign	Het
Or1j19	A	G	2: 36,676,810 (GRCm39)	Q91R	probably benign	Het
Or2aj6	G	A	16: 19,442,950 (GRCm39)	A300V	probably benign	Het
Or4c109	A	C	2: 88,818,454 (GRCm39)	L31V	probably null	Het
Or51b17	A	G	7: 103,542,672 (GRCm39)	I90T	possibly damaging	Het
Or7a39	A	T	10: 78,715,041 (GRCm39)	S12C	probably benign	Het
Pde4dip	C	A	3: 97,616,874 (GRCm39)	K1789N	probably damaging	Het
Piezo2	T	C	18: 63,211,862 (GRCm39)	I1322V	possibly damaging	Het
Pih1d1	A	G	7: 44,803,951 (GRCm39)		probably benign	Het
Plekhd1	T	C	12: 80,769,101 (GRCm39)	S454P	probably damaging	Het
Polr2h	G	A	16: 20,539,303 (GRCm39)	V89M	probably damaging	Het
Pptc7	G	A	5: 122,422,780 (GRCm39)	G17S	possibly damaging	Het
Pramel55	T	C	5: 95,949,586 (GRCm39)	V111A	probably benign	Het
Ptpra	T	C	2: 130,386,356 (GRCm39)	V602A	probably damaging	Het
Rnf123	C	T	9: 107,940,879 (GRCm39)	R654H	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Samsn1	A	G	16: 75,675,991 (GRCm39)	S135P	probably damaging	Het
Sgsm3	A	G	15: 80,890,980 (GRCm39)	N147S	probably benign	Het
Shoc1	T	C	4: 59,062,640 (GRCm39)	Y872C	probably damaging	Het
Slc22a29	T	C	19: 8,138,933 (GRCm39)	T510A	probably benign	Het
Smc4	T	A	3: 68,939,144 (GRCm39)	H978Q	probably damaging	Het
Sox7	G	A	14: 64,185,927 (GRCm39)	R321H	probably damaging	Het
Spred3	T	C	7: 28,861,258 (GRCm39)	D307G	probably damaging	Het
Syne2	T	A	12: 75,900,875 (GRCm39)	D11E	probably benign	Het
Tob1	ACAGCAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCA	11: 94,105,278 (GRCm39)		probably benign	Het
Top2b	A	T	14: 16,387,313 (GRCm38)	I134F	probably damaging	Het
Tspan1	T	A	4: 116,020,563 (GRCm39)	R206*	probably null	Het
Ttc3	A	T	16: 94,230,314 (GRCm39)	N837I	probably damaging	Het
Vmn1r36	T	C	6: 66,693,549 (GRCm39)	T72A	possibly damaging	Het
Vmn2r10	A	G	5: 109,151,324 (GRCm39)	S97P	probably damaging	Het
Zfp2	T	A	11: 50,790,841 (GRCm39)	I401F	probably damaging	Het
Zfp629	T	C	7: 127,210,190 (GRCm39)	T540A	possibly damaging	Het
Zfr	G	A	15: 12,166,231 (GRCm39)	V834I	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
R4885:Chat	UTSW	14	32,176,567 (GRCm39)	missense	probably damaging	1.00
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'- GACGGACTGACTAGGAAGTTC -3'
(R):5'- AAGGTTACCACAGAGCCCATG -3'

Sequencing Primer
(F):5'- ATGCCCCAAGCTCACTGTATG -3'
(R):5'- GAGCCCATGCCAATGCCTTC -3'

Posted On

2016-03-17