Incidental Mutation 'R1462:Chat'
ID 158980
Institutional Source Beutler Lab
Gene Symbol Chat
Ensembl Gene ENSMUSG00000021919
Gene Name choline acetyltransferase
Synonyms B230380D24Rik
MMRRC Submission 039516-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.902) question?
Stock # R1462 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 32130160-32187866 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32142735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 418 (K418R)
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: K418R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070865
Gene: ENSMUSG00000021919
AA Change: K418R

DomainStartEndE-ValueType
Pfam:Carn_acyltransf 24 612 5.5e-190 PFAM
Meta Mutation Damage Score 0.3295 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.4%
  • 10x: 92.6%
  • 20x: 79.9%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik C A 7: 40,642,370 (GRCm39) S104* probably null Het
Abca9 T C 11: 110,051,342 (GRCm39) D118G probably benign Het
Adamts16 A G 13: 70,984,253 (GRCm39) F137L probably benign Het
Adamts3 T C 5: 90,009,208 (GRCm39) I152V probably benign Het
Adcy4 T A 14: 56,015,765 (GRCm39) E441D possibly damaging Het
Adgra1 T A 7: 139,455,745 (GRCm39) Y458N probably damaging Het
Bhlhe22 C G 3: 18,109,946 (GRCm39) S332C probably damaging Het
Card19 T A 13: 49,358,760 (GRCm39) Q71L probably benign Het
Ccdc12 T C 9: 110,485,662 (GRCm39) L11P probably damaging Het
Cdadc1 A G 14: 59,813,307 (GRCm39) Y367H probably damaging Het
Cdc5l G T 17: 45,719,288 (GRCm39) Q542K possibly damaging Het
Cep170 T C 1: 176,584,211 (GRCm39) K723E possibly damaging Het
Cep70 A G 9: 99,145,773 (GRCm39) I147V probably benign Het
Cfap58 A T 19: 47,950,869 (GRCm39) H410L probably damaging Het
Cic T G 7: 24,971,032 (GRCm39) D254E probably damaging Het
Ckap4 T C 10: 84,363,431 (GRCm39) E544G probably damaging Het
Crnkl1 C T 2: 145,763,739 (GRCm39) A500T probably damaging Het
Cyp2c38 T C 19: 39,380,632 (GRCm39) N418D probably damaging Het
Daam1 A T 12: 71,990,916 (GRCm39) I177L unknown Het
Ercc5 A G 1: 44,219,784 (GRCm39) T1019A probably damaging Het
F13b T A 1: 139,435,374 (GRCm39) V173E probably damaging Het
Fam20a A C 11: 109,568,143 (GRCm39) F316V probably damaging Het
Flrt2 T C 12: 95,746,112 (GRCm39) V150A probably damaging Het
Fnta A C 8: 26,489,599 (GRCm39) probably null Het
Ghsr A G 3: 27,426,025 (GRCm39) D27G probably benign Het
Gtpbp1 A G 15: 79,592,086 (GRCm39) N96D probably damaging Het
H1f7 A T 15: 98,154,454 (GRCm39) W232R unknown Het
Ibtk A T 9: 85,606,198 (GRCm39) I443N probably damaging Het
Ifi207 T C 1: 173,552,513 (GRCm39) H968R probably damaging Het
Ifit2 A G 19: 34,550,586 (GRCm39) D42G probably null Het
Il17rc A T 6: 113,455,950 (GRCm39) D265V probably damaging Het
Itfg2 T C 6: 128,401,691 (GRCm39) D29G probably damaging Het
Itprid1 A G 6: 55,952,649 (GRCm39) H864R probably damaging Het
Lrrc1 A G 9: 77,349,547 (GRCm39) F295L probably benign Het
Mrps28 T A 3: 8,965,184 (GRCm39) H85L possibly damaging Het
Mtpn T A 6: 35,499,693 (GRCm39) K37M possibly damaging Het
Mug1 C T 6: 121,859,588 (GRCm39) H1196Y probably benign Het
Mup4 T C 4: 59,960,084 (GRCm39) H60R possibly damaging Het
Mybl2 T C 2: 162,914,628 (GRCm39) S249P probably benign Het
Naip6 A G 13: 100,436,748 (GRCm39) Y592H possibly damaging Het
Nrp1 A G 8: 129,229,279 (GRCm39) N919S probably benign Het
Nudt9 C T 5: 104,212,904 (GRCm39) Q326* probably null Het
Or5w13 A T 2: 87,523,720 (GRCm39) C169S probably damaging Het
Or6c76b A G 10: 129,693,100 (GRCm39) T238A probably damaging Het
Or7g17 T A 9: 18,768,407 (GRCm39) M162K probably benign Het
Or9k7 T A 10: 130,046,592 (GRCm39) I136F probably benign Het
Pcsk4 T C 10: 80,161,815 (GRCm39) E142G probably damaging Het
Pde3a C A 6: 141,405,560 (GRCm39) P471T probably benign Het
Pign A T 1: 105,512,727 (GRCm39) V652E possibly damaging Het
Prkcb T A 7: 122,181,672 (GRCm39) M420K probably damaging Het
Prr14 T A 7: 127,073,160 (GRCm39) probably null Het
Rchy1 T A 5: 92,105,741 (GRCm39) Q69L probably damaging Het
Sec23ip T G 7: 128,367,862 (GRCm39) S625A probably benign Het
Smpdl3b A G 4: 132,473,925 (GRCm39) S47P probably damaging Het
Speer4a3 T A 5: 26,156,623 (GRCm39) I119F possibly damaging Het
Stil G A 4: 114,881,161 (GRCm39) M568I probably benign Het
Syt3 T A 7: 44,045,434 (GRCm39) V558E probably damaging Het
Szt2 A G 4: 118,231,164 (GRCm39) V2533A unknown Het
Tenm4 A G 7: 96,353,360 (GRCm39) Y384C probably damaging Het
Tfam T C 10: 71,071,380 (GRCm39) E94G probably damaging Het
Tmbim7 A G 5: 3,714,304 (GRCm39) T14A probably damaging Het
Tmtc2 A T 10: 105,409,566 (GRCm39) Y15* probably null Het
Uhrf1 C T 17: 56,625,035 (GRCm39) A526V probably damaging Het
Vmn2r67 T C 7: 84,805,046 (GRCm39) D22G probably benign Het
Vmn2r96 A G 17: 18,817,660 (GRCm39) I412M possibly damaging Het
Wdr17 A T 8: 55,123,363 (GRCm39) I479K probably damaging Het
Wt1 T C 2: 104,997,176 (GRCm39) V371A probably damaging Het
Zfp536 G T 7: 37,178,735 (GRCm39) S226Y probably damaging Het
Zfp827 T C 8: 79,803,108 (GRCm39) V560A probably benign 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
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'- AGGCAGTCCCTCATTTGTGACACC -3'
(R):5'- GGATGATAAGGGCTATGCACTCACC -3'

Sequencing Primer
(F):5'- AGCTCGGATGGTAACATCTC -3'
(R):5'- GGGCTATGCACTCACCTTCTG -3'
Posted On 2014-03-14