Incidental Mutation 'IGL02192:Chat'
ID283923
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chat
Ensembl Gene ENSMUSG00000021919
Gene Namecholine acetyltransferase
SynonymsB230380D24Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.333) question?
Stock #IGL02192
Quality Score
Status
Chromosome14
Chromosomal Location32408203-32465989 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 32423322 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 377 (R377G)
Ref Sequence ENSEMBL: ENSMUSP00000070865 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070125]
Predicted Effect possibly damaging
Transcript: ENSMUST00000070125
AA Change: R377G

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000070865
Gene: ENSMUSG00000021919
AA Change: R377G

DomainStartEndE-ValueType
Pfam:Carn_acyltransf 24 612 5.5e-190 PFAM
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 A T 7: 28,898,400 M545K possibly damaging Het
Adamtsl1 A G 4: 86,228,016 E303G probably damaging Het
Anxa13 A T 15: 58,348,780 noncoding transcript Het
Ap2b1 C T 11: 83,346,766 T552I possibly damaging Het
Cars T C 7: 143,571,588 S388G probably damaging Het
Cdh18 A T 15: 23,460,316 D544V probably damaging Het
Col14a1 A G 15: 55,362,402 T154A unknown Het
Col9a1 C T 1: 24,221,987 P311S probably damaging Het
Cpsf3 G T 12: 21,310,193 probably benign Het
Cpsf3 G T 12: 21,310,196 probably null Het
Dock8 T C 19: 25,078,205 probably null Het
Eml6 A G 11: 29,805,743 I837T probably benign Het
Epb41 T C 4: 131,929,717 T792A probably damaging Het
Exph5 A T 9: 53,376,325 R1569* probably null Het
F13b A T 1: 139,517,333 T574S probably damaging Het
Fam160a1 A G 3: 85,673,326 L524P possibly damaging Het
Fam184b G T 5: 45,537,720 D727E probably benign Het
Fhod3 T C 18: 25,056,358 L619P probably damaging Het
Fsd1l A G 4: 53,647,754 I66V probably benign Het
Fv1 A G 4: 147,870,255 D426G possibly damaging Het
Gm3371 A T 14: 44,403,778 probably benign Het
Hnf1a A T 5: 114,960,118 S142T probably damaging Het
Itgb3 A G 11: 104,643,939 I541V probably benign Het
Itgbl1 G T 14: 123,843,926 C239F probably damaging Het
Krt26 C T 11: 99,333,645 R349Q probably benign Het
Larp1b G T 3: 40,967,494 S116I probably benign Het
Lmtk3 A G 7: 45,794,509 probably benign Het
Mapk10 T C 5: 102,989,647 I235V probably damaging Het
Mctp1 C T 13: 76,731,768 probably benign Het
Megf8 G A 7: 25,353,860 D1819N probably damaging Het
Muc6 T C 7: 141,637,804 T2254A possibly damaging Het
Nbr1 T A 11: 101,569,591 S444T probably damaging Het
Ncor2 A T 5: 125,024,237 D1956E probably damaging Het
Ndufaf5 T C 2: 140,188,743 V183A probably benign Het
Nfasc G A 1: 132,570,481 T1155M probably damaging Het
Nol12 A G 15: 78,937,174 E78G probably damaging Het
Npy5r T A 8: 66,681,346 H265L probably benign Het
Olfr1008 G A 2: 85,690,128 G233D possibly damaging Het
Olfr418 T A 1: 173,270,850 L225H probably damaging Het
Pop1 A G 15: 34,529,071 E749G probably benign Het
Ppil3 T C 1: 58,438,388 I66V probably damaging Het
Prl4a1 C A 13: 28,018,571 T43K possibly damaging Het
Prop1 A G 11: 50,953,286 probably benign Het
Qrsl1 A T 10: 43,885,014 I218N probably damaging Het
Rbm22 T A 18: 60,564,412 M63K possibly damaging Het
Rictor T C 15: 6,786,414 S1056P probably benign Het
Rps6kb2 T C 19: 4,157,588 T388A probably damaging Het
Slc7a5 A G 8: 121,886,390 probably benign Het
Sp100 A T 1: 85,708,001 D509V probably damaging Het
Spata18 G T 5: 73,672,518 probably null Het
Sspo C A 6: 48,459,568 T1254K possibly damaging Het
Stk19 A G 17: 34,832,158 probably benign Het
Taar8b T A 10: 24,091,364 I311F probably damaging Het
Themis2 C A 4: 132,783,347 probably null Het
Tll2 T C 19: 41,086,263 Y937C possibly damaging Het
Trim34a T A 7: 104,247,732 M1K probably null Het
Usp50 G A 2: 126,778,038 T118I possibly damaging Het
Vps13d G A 4: 145,148,858 S1693F probably benign Het
Vps16 T A 2: 130,440,932 I467N probably damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Other mutations in Chat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00861:Chat APN 14 32449023 missense probably damaging 0.98
IGL01618:Chat APN 14 32446892 unclassified probably null
IGL02418:Chat APN 14 32446949 missense possibly damaging 0.74
IGL02851:Chat APN 14 32458613 missense probably benign
IGL02966:Chat APN 14 32448946 missense probably damaging 1.00
IGL03401:Chat APN 14 32452569 missense probably damaging 1.00
R0511:Chat UTSW 14 32409019 missense probably damaging 1.00
R1462:Chat UTSW 14 32420778 missense probably damaging 1.00
R1462:Chat UTSW 14 32420778 missense probably damaging 1.00
R1729:Chat UTSW 14 32446795 missense probably damaging 1.00
R1782:Chat UTSW 14 32408987 missense probably damaging 1.00
R1972:Chat UTSW 14 32424191 missense probably benign 0.03
R1973:Chat UTSW 14 32424191 missense probably benign 0.03
R2061:Chat UTSW 14 32446873 missense probably benign 0.00
R2270:Chat UTSW 14 32454581 missense probably damaging 0.99
R4012:Chat UTSW 14 32423312 missense possibly damaging 0.56
R4601:Chat UTSW 14 32424155 missense probably benign 0.00
R4620:Chat UTSW 14 32453818 missense probably damaging 1.00
R4760:Chat UTSW 14 32453737 missense probably benign
R4885:Chat UTSW 14 32454610 missense probably damaging 1.00
R4899:Chat UTSW 14 32448977 missense possibly damaging 0.80
R4940:Chat UTSW 14 32419105 missense probably damaging 1.00
R4960:Chat UTSW 14 32420814 missense possibly damaging 0.86
R5094:Chat UTSW 14 32408939 missense probably damaging 1.00
R6039:Chat UTSW 14 32449027 missense probably damaging 1.00
R6039:Chat UTSW 14 32449027 missense probably damaging 1.00
R6621:Chat UTSW 14 32419013 missense probably damaging 0.97
R6648:Chat UTSW 14 32454694 missense probably benign 0.17
R6980:Chat UTSW 14 32424154 missense probably benign 0.15
R7203:Chat UTSW 14 32419057 missense probably damaging 1.00
R7336:Chat UTSW 14 32423256 splice site probably null
R7530:Chat UTSW 14 32408958 nonsense probably null
X0014:Chat UTSW 14 32446933 missense probably benign 0.01
X0066:Chat UTSW 14 32453831 missense probably damaging 1.00
Posted On2015-04-16