Mutagenetix > Incidental Mutation

Incidental Mutation 'R0511:Chat'

46956

Institutional Source

Beutler Lab

Gene Symbol

Chat

Ensembl Gene

ENSMUSG00000021919

Gene Name

choline acetyltransferase

Synonyms

B230380D24Rik

MMRRC Submission

038705-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.902) question?

Stock #

R0511 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32130160-32187866 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 32130976 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 555 (T555M)

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: T555M

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

SMART Domains

Protein: ENSMUSP00000070865
Gene: ENSMUSG00000021919
AA Change: T555M

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

100% (116/116)

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	A	G	3: 59,843,771 (GRCm39)	H155R	possibly damaging	Het
Abca13	G	T	11: 9,244,559 (GRCm39)	V2141L	probably benign	Het
Adam17	T	C	12: 21,390,459 (GRCm39)		probably benign	Het
Adam3	A	T	8: 25,185,331 (GRCm39)	C456S	probably damaging	Het
Aldh4a1	G	T	4: 139,369,882 (GRCm39)		probably benign	Het
Anapc4	A	G	5: 52,999,359 (GRCm39)		probably benign	Het
Ank3	A	T	10: 69,718,198 (GRCm39)	Q483L	probably damaging	Het
Ankle2	A	G	5: 110,389,925 (GRCm39)		probably benign	Het
Ankrd13b	T	A	11: 77,364,114 (GRCm39)	T150S	possibly damaging	Het
Apeh	A	G	9: 107,964,254 (GRCm39)	M524T	probably benign	Het
Arl14epl	T	A	18: 47,059,484 (GRCm39)		probably null	Het
Atg2a	T	C	19: 6,302,569 (GRCm39)	F964S	possibly damaging	Het
Atg2b	C	T	12: 105,583,412 (GRCm39)	V2050M	probably damaging	Het
Atp2b4	A	T	1: 133,659,956 (GRCm39)		probably benign	Het
Bbof1	T	A	12: 84,477,045 (GRCm39)	S512T	probably benign	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Car10	T	C	11: 93,381,408 (GRCm39)	Y100H	probably damaging	Het
Ccdc81	T	A	7: 89,542,504 (GRCm39)	E124V	probably damaging	Het
Cd84	A	G	1: 171,700,494 (GRCm39)	T204A	probably benign	Het
Celf2	A	G	2: 6,608,987 (GRCm39)	S178P	probably damaging	Het
Chd6	A	G	2: 160,834,111 (GRCm39)	F917S	probably damaging	Het
Chrna2	C	A	14: 66,386,553 (GRCm39)	T233N	probably damaging	Het
Cnpy2	T	C	10: 128,162,054 (GRCm39)	V109A	probably benign	Het
Col4a1	T	C	8: 11,258,333 (GRCm39)		probably null	Het
Csmd1	C	T	8: 15,982,529 (GRCm39)	V2713M	possibly damaging	Het
Cuedc1	G	A	11: 88,074,231 (GRCm39)	R255Q	probably damaging	Het
Cxcl15	A	T	5: 90,945,897 (GRCm39)		probably benign	Het
Dach1	A	T	14: 98,138,765 (GRCm39)	H559Q	possibly damaging	Het
Dele1	T	C	18: 38,387,124 (GRCm39)		probably null	Het
Dennd4c	C	T	4: 86,744,259 (GRCm39)	T1367M	probably damaging	Het
Depdc5	T	A	5: 33,102,372 (GRCm39)	Y365*	probably null	Het
Dicer1	T	C	12: 104,669,100 (GRCm39)	Y1194C	possibly damaging	Het
Dmxl1	C	G	18: 50,024,534 (GRCm39)	S1736*	probably null	Het
Dnah7a	C	T	1: 53,536,285 (GRCm39)	R2586K	probably benign	Het
Dnajb8	T	C	6: 88,199,467 (GRCm39)	M1T	probably null	Het
Dync2h1	G	A	9: 7,122,692 (GRCm39)	P2088L	probably benign	Het
Eftud2	T	G	11: 102,735,048 (GRCm39)	H617P	probably damaging	Het
Ephb1	A	G	9: 101,873,179 (GRCm39)		probably benign	Het
Fam184a	G	T	10: 53,574,975 (GRCm39)	H155Q	probably benign	Het
Firrm	T	C	1: 163,799,412 (GRCm39)		probably null	Het
Ganc	G	T	2: 120,278,882 (GRCm39)	E700*	probably null	Het
Gm10912	A	G	2: 103,897,290 (GRCm39)		probably benign	Het
Haus5	A	T	7: 30,358,492 (GRCm39)	I294N	probably damaging	Het
Hmgcr	G	T	13: 96,796,651 (GRCm39)		probably null	Het
Hr	T	A	14: 70,799,352 (GRCm39)	C641*	probably null	Het
Itga10	A	G	3: 96,565,490 (GRCm39)	N1038S	probably damaging	Het
Itgb1bp1	T	G	12: 21,321,436 (GRCm39)	Y172S	probably damaging	Het
Kprp	T	C	3: 92,732,030 (GRCm39)	N340S	probably damaging	Het
Kremen1	A	G	11: 5,165,447 (GRCm39)	I41T	probably damaging	Het
Krt6b	A	G	15: 101,586,042 (GRCm39)		probably benign	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Ldhd	A	G	8: 112,356,309 (GRCm39)	Y86H	probably benign	Het
Lilra6	A	T	7: 3,915,784 (GRCm39)	I76N	possibly damaging	Het
Mak	T	C	13: 41,199,743 (GRCm39)	T299A	probably benign	Het
Med25	A	G	7: 44,534,502 (GRCm39)		probably null	Het
Mpg	A	T	11: 32,180,039 (GRCm39)	N189I	probably damaging	Het
Mroh8	A	G	2: 157,071,838 (GRCm39)	Y556H	probably damaging	Het
Myh8	T	A	11: 67,175,333 (GRCm39)	S294T	probably benign	Het
Myom1	T	A	17: 71,391,312 (GRCm39)	D842E	probably benign	Het
Myorg	A	G	4: 41,498,538 (GRCm39)	F364S	probably damaging	Het
Nat2	C	T	8: 67,953,982 (GRCm39)	Q31*	probably null	Het
Nf1	T	A	11: 79,329,595 (GRCm39)	M653K	probably benign	Het
Nhs	C	A	X: 160,620,355 (GRCm39)	R1467I	probably damaging	Het
Npr2	A	G	4: 43,632,801 (GRCm39)	E206G	probably benign	Het
Nsd3	G	A	8: 26,168,732 (GRCm39)	G629D	possibly damaging	Het
Nwd1	G	A	8: 73,408,633 (GRCm39)	C831Y	probably damaging	Het
Or52r1c	T	C	7: 102,735,058 (GRCm39)	I111T	probably damaging	Het
Or5t9	A	G	2: 86,659,950 (GRCm39)	I285V	probably benign	Het
P2ry14	A	G	3: 59,023,449 (GRCm39)	S4P	possibly damaging	Het
Parp4	A	G	14: 56,873,172 (GRCm39)		probably benign	Het
Pate14	A	T	9: 36,549,873 (GRCm39)		probably null	Het
Pclo	A	G	5: 14,728,299 (GRCm39)		probably benign	Het
Pclo	T	C	5: 14,729,412 (GRCm39)		probably benign	Het
Pcnt	A	T	10: 76,240,429 (GRCm39)	S1202T	possibly damaging	Het
Pfkfb4	A	G	9: 108,856,825 (GRCm39)	Y412C	probably damaging	Het
Pgm2	T	A	5: 64,267,898 (GRCm39)	V449D	probably damaging	Het
Poldip3	T	A	15: 83,022,436 (GRCm39)	D116V	probably damaging	Het
Pom121	G	T	5: 135,410,686 (GRCm39)	Q824K	unknown	Het
Prkdc	G	T	16: 15,649,146 (GRCm39)	G3707*	probably null	Het
Prr14l	T	C	5: 33,001,560 (GRCm39)		probably benign	Het
Ptbp2	T	G	3: 119,514,613 (GRCm39)	I405L	probably benign	Het
Rad21l	A	T	2: 151,490,989 (GRCm39)		probably benign	Het
Rbm6	G	A	9: 107,724,488 (GRCm39)	Q488*	probably null	Het
Rdh1	T	A	10: 127,600,652 (GRCm39)	M225K	probably benign	Het
Recql5	T	C	11: 115,819,209 (GRCm39)	D119G	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Robo1	T	C	16: 72,810,013 (GRCm39)		probably null	Het
Samd12	G	A	15: 53,723,567 (GRCm39)	T42I	probably benign	Het
Scn10a	A	T	9: 119,442,766 (GRCm39)	M1494K	probably damaging	Het
Sec31a	G	A	5: 100,523,099 (GRCm39)	P864L	probably benign	Het
Senp2	T	C	16: 21,855,320 (GRCm39)	V344A	probably benign	Het
Serpina5	G	A	12: 104,069,621 (GRCm39)	D278N	probably benign	Het
Sh3tc1	A	T	5: 35,860,806 (GRCm39)	V1017D	probably damaging	Het
Sin3a	T	A	9: 57,004,179 (GRCm39)	Y310*	probably null	Het
Slc25a32	T	C	15: 38,960,940 (GRCm39)	T248A	probably benign	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Slc4a10	G	A	2: 62,117,206 (GRCm39)	V722M	probably damaging	Het
Slco1a4	A	G	6: 141,776,586 (GRCm39)		probably benign	Het
Smg6	T	A	11: 74,819,884 (GRCm39)	Y52N	probably damaging	Het
Sncb	T	G	13: 54,913,400 (GRCm39)	T33P	probably damaging	Het
Spef2	A	G	15: 9,584,070 (GRCm39)		probably null	Het
Spmip1	G	T	6: 29,478,169 (GRCm39)		probably benign	Het
Sugp1	A	G	8: 70,512,013 (GRCm39)	E203G	probably damaging	Het
Suv39h2	A	T	2: 3,473,616 (GRCm39)	C105S	probably damaging	Het
Tlr1	A	T	5: 65,083,963 (GRCm39)	F205I	probably damaging	Het
Tnip1	A	T	11: 54,808,699 (GRCm39)	M496K	probably damaging	Het
Tnxb	G	A	17: 34,937,219 (GRCm39)	E2889K	probably damaging	Het
Trim30b	T	A	7: 104,015,010 (GRCm39)	H126L	possibly damaging	Het
Trpm7	A	T	2: 126,668,638 (GRCm39)	Y759*	probably null	Het
Ttc17	A	G	2: 94,153,465 (GRCm39)	I1000T	possibly damaging	Het
Ttc27	A	T	17: 75,025,710 (GRCm39)	N61I	probably benign	Het
Uba6	T	C	5: 86,260,609 (GRCm39)	Y990C	probably damaging	Het
Vav3	A	G	3: 109,571,756 (GRCm39)		probably benign	Het
Vmn2r55	C	T	7: 12,404,945 (GRCm39)	A153T	possibly damaging	Het
Wars2	A	G	3: 99,123,865 (GRCm39)	D242G	probably damaging	Het
Xylt2	G	A	11: 94,560,762 (GRCm39)	Q259*	probably null	Het
Zfp27	G	A	7: 29,593,947 (GRCm39)	P673S	probably damaging	Het
Zgrf1	T	C	3: 127,378,309 (GRCm39)	I1023T	possibly damaging	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
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
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'- CCGCTTCTGCAAACTCCACAGATG -3'
(R):5'- CCCCAGATACCTTGCACCTGAATG -3'

Sequencing Primer
(F):5'- TGCAAACTCCACAGATGAGGTC -3'
(R):5'- gggggagagagagggagag -3'

Posted On

2013-06-11