Incidental Mutation 'IGL02966:Chat'
ID 365613
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chat
Ensembl Gene ENSMUSG00000021919
Gene Name choline acetyltransferase
Synonyms B230380D24Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.902) question?
Stock # IGL02966
Quality Score
Status
Chromosome 14
Chromosomal Location 32130160-32187866 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 32170903 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 199 (V199M)
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 damaging
Transcript: ENSMUST00000070125
AA Change: V199M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070865
Gene: ENSMUSG00000021919
AA Change: V199M

DomainStartEndE-ValueType
Pfam:Carn_acyltransf 24 612 5.5e-190 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000226365
AA Change: V199M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000227579
AA Change: V199M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227675
Coding Region Coverage
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930595M18Rik A T X: 80,463,317 (GRCm39) Y797N possibly damaging Het
Actbl2 G A 13: 111,392,106 (GRCm39) G147E probably damaging Het
Adam18 A T 8: 25,101,165 (GRCm39) probably benign Het
Ahcyl2 G A 6: 29,880,556 (GRCm39) V175I probably benign Het
Alox12 T A 11: 70,140,911 (GRCm39) T375S probably damaging Het
Batf2 C A 19: 6,221,819 (GRCm39) Q210K probably damaging Het
Bicd1 T C 6: 149,385,494 (GRCm39) S76P probably damaging Het
Bphl A T 13: 34,247,980 (GRCm39) H251L probably damaging Het
C130074G19Rik C A 1: 184,614,943 (GRCm39) E82D probably damaging Het
Calu A T 6: 29,356,584 (GRCm39) K39* probably null Het
Capns1 T C 7: 29,891,618 (GRCm39) D142G probably damaging Het
Ccr8 T C 9: 119,923,206 (GRCm39) V107A probably damaging Het
Cep170b G A 12: 112,702,878 (GRCm39) G447D possibly damaging Het
Cntnap1 G T 11: 101,075,575 (GRCm39) V918L probably damaging Het
Cyp27a1 A G 1: 74,771,249 (GRCm39) T145A probably benign Het
Dgkq T A 5: 108,804,287 (GRCm39) probably null Het
Dnhd1 A G 7: 105,369,948 (GRCm39) I4458V probably benign Het
Enpp1 T A 10: 24,536,172 (GRCm39) E409D probably damaging Het
Fam78b G T 1: 166,906,457 (GRCm39) L205F probably damaging Het
Foxr2 C A X: 151,913,677 (GRCm39) R183S probably damaging Het
Ganc T C 2: 120,264,129 (GRCm39) S361P probably damaging Het
Gfra4 C A 2: 130,884,560 (GRCm39) A15S possibly damaging Het
Gm8011 A T 14: 42,287,957 (GRCm39) D145V unknown Het
Gnb4 A G 3: 32,639,372 (GRCm39) V307A probably benign Het
Hdac4 A T 1: 91,982,667 (GRCm39) V17E possibly damaging Het
Herc6 G A 6: 57,560,318 (GRCm39) probably null Het
Hivep3 A G 4: 119,989,383 (GRCm39) T1945A probably benign Het
Ica1l A T 1: 60,049,298 (GRCm39) N218K probably damaging Het
Kmt2b A T 7: 30,274,887 (GRCm39) L1939Q probably benign Het
Lrrc40 G A 3: 157,747,302 (GRCm39) probably benign Het
Marchf8 C T 6: 116,380,499 (GRCm39) R117C probably damaging Het
Megf6 T C 4: 154,338,234 (GRCm39) S327P probably damaging Het
Mocos T G 18: 24,809,668 (GRCm39) C424G probably damaging Het
Mrpl50 A G 4: 49,521,014 (GRCm39) W14R probably benign Het
Mysm1 A T 4: 94,863,523 (GRCm39) D23E probably benign Het
Naa35 T A 13: 59,734,085 (GRCm39) D34E probably benign Het
Nid1 A G 13: 13,656,806 (GRCm39) I646V probably benign Het
Nupr1 T C 7: 126,224,073 (GRCm39) probably benign Het
Or2aj6 G T 16: 19,443,051 (GRCm39) H266Q probably damaging Het
Or5b24 A T 19: 12,912,164 (GRCm39) I21F probably benign Het
Or8b12b T G 9: 37,684,882 (GRCm39) L309R probably benign Het
Pcbp2 A C 15: 102,392,684 (GRCm39) probably benign Het
Pde8b T C 13: 95,232,156 (GRCm39) Q158R probably damaging Het
Pdzd8 T C 19: 59,289,291 (GRCm39) Y703C probably damaging Het
Plxnb3 T C X: 72,808,889 (GRCm39) S885P probably benign Het
Poc1b T A 10: 98,980,176 (GRCm39) C136S probably damaging Het
Pole2 T C 12: 69,256,649 (GRCm39) D292G probably damaging Het
Prpf39 T C 12: 65,089,553 (GRCm39) V97A probably benign Het
Rbbp8 T A 18: 11,838,869 (GRCm39) H183Q possibly damaging Het
Scn2a C T 2: 65,532,188 (GRCm39) T600M possibly damaging Het
Spata32 T C 11: 103,099,629 (GRCm39) Q292R possibly damaging Het
Sugp1 T C 8: 70,523,758 (GRCm39) probably benign Het
Sult3a1 A C 10: 33,753,269 (GRCm39) probably benign Het
Tpm3-rs7 C T 14: 113,552,810 (GRCm39) Q235* probably null Het
Trbv2 A T 6: 41,024,685 (GRCm39) T34S possibly damaging Het
Tssk6 A G 8: 70,355,535 (GRCm39) Y193C probably benign Het
Ttn T C 2: 76,538,802 (GRCm39) K34676R possibly damaging Het
Ugt3a1 T C 15: 9,370,154 (GRCm39) Y433H probably damaging Het
Wdhd1 T C 14: 47,479,101 (GRCm39) K1072E possibly damaging 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
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
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
Posted On 2015-12-18