Incidental Mutation 'R7203:Chat'
ID 560820
Institutional Source Beutler Lab
Gene Symbol Chat
Ensembl Gene ENSMUSG00000021919
Gene Name choline acetyltransferase
Synonyms B230380D24Rik
MMRRC Submission 045281-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.902) question?
Stock # R7203 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 32130160-32187866 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32141014 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 461 (D461G)
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: D461G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070865
Gene: ENSMUSG00000021919
AA Change: D461G

DomainStartEndE-ValueType
Pfam:Carn_acyltransf 24 612 5.5e-190 PFAM
Meta Mutation Damage Score 0.8349 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (108/108)
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: 108 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544G11Rik T C 6: 65,930,317 (GRCm39) V184A probably benign Het
Aars2 A G 17: 45,827,497 (GRCm39) Y513C probably damaging Het
Ackr2 G A 9: 121,738,033 (GRCm39) C136Y probably damaging Het
Aldh1l1 A G 6: 90,547,782 (GRCm39) K414R probably benign Het
Arl9 A G 5: 77,155,118 (GRCm39) Y83C possibly damaging Het
Atp10a G T 7: 58,436,221 (GRCm39) R337L probably benign Het
Atp6v1g3 A T 1: 138,215,538 (GRCm39) Q66L probably damaging Het
Atp7b A T 8: 22,487,351 (GRCm39) N1321K probably damaging Het
Axdnd1 A T 1: 156,209,959 (GRCm39) M437K probably damaging Het
Bap1 C A 14: 30,976,126 (GRCm39) P147Q probably damaging Het
Bicd1 C T 6: 149,414,403 (GRCm39) T372I possibly damaging Het
Brix1 T C 15: 10,483,378 (GRCm39) probably null Het
Btrc A G 19: 45,501,967 (GRCm39) probably null Het
C130050O18Rik A C 5: 139,400,129 (GRCm39) I61L probably benign Het
Cfap161 A G 7: 83,425,258 (GRCm39) S278P probably damaging Het
Cgnl1 T C 9: 71,631,815 (GRCm39) D512G possibly damaging Het
Chl1 T A 6: 103,668,635 (GRCm39) V456D probably benign Het
Cib1 T C 7: 79,882,120 (GRCm39) T20A possibly damaging Het
Cubn T G 2: 13,355,814 (GRCm39) H1806P probably benign Het
Dapk1 T A 13: 60,844,149 (GRCm39) V56E possibly damaging Het
Dennd4a A G 9: 64,803,756 (GRCm39) N1032D probably benign Het
Dlg5 T A 14: 24,188,723 (GRCm39) E1756V probably damaging Het
Dnah1 T C 14: 30,996,339 (GRCm39) T2666A probably benign Het
Dnah11 A T 12: 118,009,257 (GRCm39) I2135N possibly damaging Het
Dnah6 T A 6: 73,150,528 (GRCm39) E745V probably benign Het
Dock8 A T 19: 25,158,927 (GRCm39) N1695I probably damaging Het
Esf1 C T 2: 140,006,139 (GRCm39) R336Q possibly damaging Het
Fam161a A G 11: 22,971,664 (GRCm39) probably null Het
Fam89a T C 8: 125,478,418 (GRCm39) E44G possibly damaging Het
Fndc3b A T 3: 27,510,634 (GRCm39) D829E probably benign Het
Fxr1 C T 3: 34,100,689 (GRCm39) T125I possibly damaging Het
Gfer T C 17: 24,914,836 (GRCm39) D69G probably damaging Het
Gpatch2l T A 12: 86,335,711 (GRCm39) S471T probably benign Het
Grm7 T G 6: 111,335,530 (GRCm39) I647S possibly damaging Het
Gsn A G 2: 35,188,807 (GRCm39) I447V probably benign Het
H2al2c C T Y: 2,599,234 (GRCm39) L46F possibly damaging Het
Hao2 A C 3: 98,784,598 (GRCm39) probably null Het
Ifitm10 T C 7: 141,882,305 (GRCm39) E155G probably benign Het
Igkv8-16 C A 6: 70,363,794 (GRCm39) W76L probably benign Het
Igsf21 A T 4: 139,834,648 (GRCm39) F75I possibly damaging Het
Ints14 T A 9: 64,871,701 (GRCm39) M13K probably damaging Het
Ipmk A T 10: 71,199,298 (GRCm39) D53V possibly damaging Het
Iqcn A T 8: 71,169,597 (GRCm39) E1229V probably benign Het
Itga8 A G 2: 12,234,906 (GRCm39) F451L possibly damaging Het
Jup A G 11: 100,272,560 (GRCm39) F284S probably damaging Het
Kctd5 T C 17: 24,292,209 (GRCm39) D65G probably benign Het
Klrc1 A T 6: 129,654,184 (GRCm39) S148T probably benign Het
Kmt5b A G 19: 3,864,147 (GRCm39) K404E probably damaging Het
Krt9 A C 11: 100,081,617 (GRCm39) M304R probably damaging Het
Krtap5-1 A T 7: 141,850,299 (GRCm39) S143T unknown Het
Kyat3 A G 3: 142,426,162 (GRCm39) N68D probably damaging Het
Kynu A G 2: 43,571,365 (GRCm39) D427G probably damaging Het
Leo1 A G 9: 75,353,278 (GRCm39) probably null Het
Loxhd1 A G 18: 77,501,892 (GRCm39) D1737G probably damaging Het
Lpo C A 11: 87,700,077 (GRCm39) L521F possibly damaging Het
Lrrk1 A G 7: 65,920,573 (GRCm39) S1477P probably damaging Het
Lrrtm1 C A 6: 77,220,584 (GRCm39) L14M probably damaging Het
Ly75 G A 2: 60,154,196 (GRCm39) R1084* probably null Het
Mcf2l A G 8: 13,060,456 (GRCm39) D764G probably benign Het
Mmut A T 17: 41,249,564 (GRCm39) M180L probably benign Het
Mrgprd A T 7: 144,876,086 (GRCm39) D319V probably benign Het
Myom3 T C 4: 135,522,490 (GRCm39) L897P possibly damaging Het
Ncapd2 A T 6: 125,161,291 (GRCm39) M247K possibly damaging Het
Nlrp2 T C 7: 5,320,533 (GRCm39) D868G probably damaging Het
Npy6r A G 18: 44,408,999 (GRCm39) N140S probably damaging Het
Nsmce4a T C 7: 130,141,602 (GRCm39) K196E probably benign Het
Nup88 T C 11: 70,836,080 (GRCm39) K532R probably benign Het
Or6k4 T A 1: 173,964,680 (GRCm39) Y123* probably null Het
Or8d6 T A 9: 39,853,805 (GRCm39) V83E probably benign Het
Or8g29-ps1 A T 9: 39,200,589 (GRCm39) I199N unknown Het
Pbxip1 A T 3: 89,354,735 (GRCm39) D418V possibly damaging Het
Pde2a C A 7: 101,159,151 (GRCm39) R761S possibly damaging Het
Phf10 A T 17: 15,166,575 (GRCm39) C432S probably damaging Het
Pitpnm2 T C 5: 124,259,522 (GRCm39) D1271G probably damaging Het
Plin1 A T 7: 79,373,192 (GRCm39) L259Q probably damaging Het
Pmpca G C 2: 26,285,046 (GRCm39) E424Q possibly damaging Het
Pou6f2 T A 13: 18,414,379 (GRCm39) Q132L unknown Het
Ppa2 A T 3: 133,036,199 (GRCm39) N118Y possibly damaging Het
Prickle2 T C 6: 92,387,959 (GRCm39) E537G possibly damaging Het
Prl3d1 A G 13: 27,282,684 (GRCm39) I141V possibly damaging Het
Prl8a1 A T 13: 27,758,172 (GRCm39) V179D probably damaging Het
Prr14l A G 5: 32,984,489 (GRCm39) F1669L probably benign Het
Prrg4 T A 2: 104,669,787 (GRCm39) E110V possibly damaging Het
Rfx5 C A 3: 94,866,187 (GRCm39) H495Q unknown Het
Rgl2 C T 17: 34,152,403 (GRCm39) R367W probably damaging Het
Rpe65 A G 3: 159,328,491 (GRCm39) Y433C probably damaging Het
Rpl35rt A T 1: 156,193,657 (GRCm39) I4F probably damaging Het
Rtn4rl1 C T 11: 75,156,576 (GRCm39) S336F possibly damaging Het
Scn2a A G 2: 65,578,663 (GRCm39) D1446G probably benign Het
Sdk1 C A 5: 142,031,931 (GRCm39) T1002K probably benign Het
Slc9b2 T C 3: 135,036,422 (GRCm39) S409P probably benign Het
Sowahc A G 10: 59,058,100 (GRCm39) T79A probably benign Het
Spata31h1 G A 10: 82,129,248 (GRCm39) T1254I probably benign Het
Stk35 T A 2: 129,643,513 (GRCm39) C166S probably benign Het
Tarbp2 A G 15: 102,430,922 (GRCm39) H225R probably benign Het
Tdrd12 T A 7: 35,188,648 (GRCm39) K530* probably null Het
Terf2ip A G 8: 112,744,618 (GRCm39) I312V probably benign Het
Tgfb1 T C 7: 25,391,964 (GRCm39) probably null Het
Thbs2 T C 17: 14,891,720 (GRCm39) D939G probably damaging Het
Ube4b A T 4: 149,483,067 (GRCm39) I67K probably benign Het
Ubn1 G T 16: 4,895,080 (GRCm39) V709F possibly damaging Het
Ugt2b5 T C 5: 87,276,258 (GRCm39) K339E possibly damaging Het
Vax2 T C 6: 83,714,882 (GRCm39) S266P probably damaging Het
Vmn2r108 A G 17: 20,683,038 (GRCm39) I722T probably benign Het
Vmn2r95 A G 17: 18,661,577 (GRCm39) K441R probably benign Het
Wapl C A 14: 34,458,648 (GRCm39) D903E probably benign Het
Wee1 T A 7: 109,734,001 (GRCm39) V442D probably benign Het
Zan T C 5: 137,432,358 (GRCm39) N2313S unknown Het
Other mutations in Chat
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TGCAGTTTCTCAGAAGCCTGTG -3'
(R):5'- CCACGTCATGTCAGAGCTATG -3'

Sequencing Primer
(F):5'- GTTTCTCAGAAGCCTGTGAACAAAG -3'
(R):5'- CTATGAAAATAAAGCCTGCTGGAGC -3'
Posted On 2019-06-26