Incidental Mutation 'R4760:Chat'
ID 356828
Institutional Source Beutler Lab
Gene Symbol Chat
Ensembl Gene ENSMUSG00000021919
Gene Name choline acetyltransferase
Synonyms B230380D24Rik
MMRRC Submission 041974-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.899) question?
Stock # R4760 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 32408203-32465989 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32453737 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 122 (N122S)
Ref Sequence ENSEMBL: ENSMUSP00000153738 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070125] [ENSMUST00000226351] [ENSMUST00000226365] [ENSMUST00000227579] [ENSMUST00000228256] [ENSMUST00000228420] [ENSMUST00000228511]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000070125
AA Change: N122S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000070865
Gene: ENSMUSG00000021919
AA Change: N122S

Pfam:Carn_acyltransf 24 612 5.5e-190 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226351
Predicted Effect probably benign
Transcript: ENSMUST00000226365
AA Change: N122S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000227579
AA Change: N122S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227675
Predicted Effect probably benign
Transcript: ENSMUST00000228256
Predicted Effect probably benign
Transcript: ENSMUST00000228420
Predicted Effect probably benign
Transcript: ENSMUST00000228511
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 98% (90/92)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310035C23Rik T A 1: 105,721,305 (GRCm38) M723K probably benign Het
A530053G22Rik A G 6: 60,402,101 (GRCm38) noncoding transcript Het
Abcc2 A T 19: 43,810,481 (GRCm38) Y512F probably benign Het
Adgrb1 T A 15: 74,571,463 (GRCm38) I51N probably damaging Het
Adhfe1 A G 1: 9,563,523 (GRCm38) Y332C probably damaging Het
Ambn C T 5: 88,467,707 (GRCm38) L317F probably damaging Het
Amn1 T C 6: 149,185,113 (GRCm38) Y17C probably benign Het
Apoa5 T C 9: 46,270,295 (GRCm38) V223A probably damaging Het
BC048403 T C 10: 121,740,007 (GRCm38) V11A probably damaging Het
Best3 A T 10: 117,024,794 (GRCm38) H653L probably benign Het
Btnl2 C A 17: 34,363,195 (GRCm38) S245Y probably damaging Het
Camk1d A G 2: 5,362,056 (GRCm38) L116P probably damaging Het
Catsperg2 T A 7: 29,705,635 (GRCm38) D698V probably damaging Het
Cd33 T C 7: 43,529,495 (GRCm38) T307A probably benign Het
Cdk8 C T 5: 146,292,666 (GRCm38) S230L probably benign Het
Cfap69 C T 5: 5,646,939 (GRCm38) C119Y probably damaging Het
Col20a1 A T 2: 180,984,403 (GRCm38) probably benign Het
Cyp2j9 A T 4: 96,568,791 (GRCm38) L481Q probably damaging Het
Dab1 A C 4: 104,732,145 (GRCm38) S550R probably damaging Het
Dlgap2 A C 8: 14,773,380 (GRCm38) Q533P probably damaging Het
Eif4g3 A T 4: 138,084,318 (GRCm38) Q31L possibly damaging Het
Ets2 G A 16: 95,719,043 (GRCm38) V438M probably damaging Het
Eva1c G A 16: 90,904,250 (GRCm38) D258N probably benign Het
Fastkd2 A G 1: 63,745,886 (GRCm38) H477R probably benign Het
Fga T G 3: 83,031,514 (GRCm38) S399A probably benign Het
Fmo4 T A 1: 162,809,827 (GRCm38) E32V probably damaging Het
Gm13083 G A 4: 143,617,231 (GRCm38) R367K probably benign Het
Gm1840 G A 8: 5,640,473 (GRCm38) noncoding transcript Het
Gm7204 T A 16: 48,218,688 (GRCm38) noncoding transcript Het
Hhipl1 A G 12: 108,320,077 (GRCm38) I548V probably damaging Het
Hsfy2 T C 1: 56,637,190 (GRCm38) T63A probably benign Het
Igf2r A G 17: 12,703,465 (GRCm38) V1254A possibly damaging Het
Ighv8-4 A T 12: 115,024,047 (GRCm38) D110E probably damaging Het
Igkv14-130 T C 6: 67,791,462 (GRCm38) S101P probably benign Het
Igkv9-120 G T 6: 68,050,367 (GRCm38) R88S possibly damaging Het
Ipo5 T C 14: 120,941,642 (GRCm38) V779A probably benign Het
Itpr1 C T 6: 108,349,632 (GRCm38) T105I probably benign Het
Kalrn T C 16: 34,198,487 (GRCm38) M670V probably damaging Het
Kdm8 T A 7: 125,455,259 (GRCm38) probably null Het
L3hypdh T C 12: 72,077,242 (GRCm38) I281V probably benign Het
Lins1 T G 7: 66,714,687 (GRCm38) probably benign Het
Map4k5 T A 12: 69,824,598 (GRCm38) I517L possibly damaging Het
March2 G T 17: 33,709,916 (GRCm38) T2K probably damaging Het
Mlkl C G 8: 111,319,716 (GRCm38) probably null Het
Mllt1 A G 17: 56,902,630 (GRCm38) M160T probably benign Het
Mmp15 G A 8: 95,368,196 (GRCm38) A233T possibly damaging Het
Moxd2 C A 6: 40,891,603 (GRCm38) T23N probably benign Het
Nop53 C A 7: 15,942,887 (GRCm38) K100N probably benign Het
Nrg1 C A 8: 31,918,200 (GRCm38) E2* probably null Het
Olfr654 T A 7: 104,588,489 (GRCm38) H228Q probably benign Het
Pank4 A G 4: 154,974,634 (GRCm38) D408G possibly damaging Het
Pcdhb10 T C 18: 37,411,942 (GRCm38) W24R probably benign Het
Pcm1 C T 8: 41,287,738 (GRCm38) T968I probably damaging Het
Pkib G T 10: 57,708,150 (GRCm38) M19I probably benign Het
Ppy A G 11: 102,100,519 (GRCm38) probably null Het
Prdx3 A C 19: 60,873,183 (GRCm38) C39W possibly damaging Het
Qrfpr T G 3: 36,221,924 (GRCm38) N106H probably benign Het
Rai14 G A 15: 10,575,690 (GRCm38) T394M possibly damaging Het
Ralgapa2 A T 2: 146,346,749 (GRCm38) L1371Q probably benign Het
Rbm12 A G 2: 156,097,128 (GRCm38) L408P probably damaging Het
Rdx T C 9: 52,065,874 (GRCm38) I141T probably benign Het
Reep1 T A 6: 71,708,001 (GRCm38) V11E possibly damaging Het
Sall4 A G 2: 168,750,427 (GRCm38) S936P probably damaging Het
Serac1 A G 17: 6,051,790 (GRCm38) M403T possibly damaging Het
Shroom3 G T 5: 92,943,086 (GRCm38) V1151F probably damaging Het
Slc35g2 T G 9: 100,553,496 (GRCm38) I41L probably benign Het
Slc39a12 G A 2: 14,400,323 (GRCm38) S242N probably benign Het
Slc9a2 T A 1: 40,761,916 (GRCm38) D535E probably damaging Het
Spata31d1a G T 13: 59,701,645 (GRCm38) P890T probably damaging Het
Sync A G 4: 129,293,439 (GRCm38) Q88R probably benign Het
Tdrp A G 8: 13,974,527 (GRCm38) probably benign Het
Tg G T 15: 66,693,319 (GRCm38) C1170F probably damaging Het
Tnks A T 8: 34,851,783 (GRCm38) D781E probably benign Het
Tnp2 T A 16: 10,788,343 (GRCm38) T87S possibly damaging Het
Tpp2 T C 1: 43,971,715 (GRCm38) V554A probably benign Het
Traf3ip2 T C 10: 39,645,739 (GRCm38) I431T probably damaging Het
Trav9d-4 A T 14: 52,983,801 (GRCm38) H84L probably damaging Het
Vmn2r42 T A 7: 8,184,277 (GRCm38) Y782F probably damaging Het
Vwf T C 6: 125,570,604 (GRCm38) S231P probably damaging Het
Wdr83os A G 8: 85,081,867 (GRCm38) S83G probably damaging Het
Wdr91 T A 6: 34,908,299 (GRCm38) Q109L probably damaging Het
Znrf4 A G 17: 56,511,864 (GRCm38) C148R possibly damaging Het
Other mutations in Chat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00861:Chat APN 14 32,449,023 (GRCm38) missense probably damaging 0.98
IGL01618:Chat APN 14 32,446,892 (GRCm38) splice site probably null
IGL02192:Chat APN 14 32,423,322 (GRCm38) missense possibly damaging 0.94
IGL02418:Chat APN 14 32,446,949 (GRCm38) missense possibly damaging 0.74
IGL02851:Chat APN 14 32,458,613 (GRCm38) missense probably benign
IGL02966:Chat APN 14 32,448,946 (GRCm38) missense probably damaging 1.00
IGL03401:Chat APN 14 32,452,569 (GRCm38) missense probably damaging 1.00
R0511:Chat UTSW 14 32,409,019 (GRCm38) missense probably damaging 1.00
R1462:Chat UTSW 14 32,420,778 (GRCm38) missense probably damaging 1.00
R1462:Chat UTSW 14 32,420,778 (GRCm38) missense probably damaging 1.00
R1729:Chat UTSW 14 32,446,795 (GRCm38) missense probably damaging 1.00
R1782:Chat UTSW 14 32,408,987 (GRCm38) missense probably damaging 1.00
R1972:Chat UTSW 14 32,424,191 (GRCm38) missense probably benign 0.03
R1973:Chat UTSW 14 32,424,191 (GRCm38) missense probably benign 0.03
R2061:Chat UTSW 14 32,446,873 (GRCm38) missense probably benign 0.00
R2270:Chat UTSW 14 32,454,581 (GRCm38) missense probably damaging 0.99
R4012:Chat UTSW 14 32,423,312 (GRCm38) missense possibly damaging 0.56
R4601:Chat UTSW 14 32,424,155 (GRCm38) missense probably benign 0.00
R4620:Chat UTSW 14 32,453,818 (GRCm38) missense probably damaging 1.00
R4885:Chat UTSW 14 32,454,610 (GRCm38) missense probably damaging 1.00
R4899:Chat UTSW 14 32,448,977 (GRCm38) missense possibly damaging 0.80
R4940:Chat UTSW 14 32,419,105 (GRCm38) missense probably damaging 1.00
R4960:Chat UTSW 14 32,420,814 (GRCm38) missense possibly damaging 0.86
R5094:Chat UTSW 14 32,408,939 (GRCm38) missense probably damaging 1.00
R6039:Chat UTSW 14 32,449,027 (GRCm38) missense probably damaging 1.00
R6039:Chat UTSW 14 32,449,027 (GRCm38) missense probably damaging 1.00
R6621:Chat UTSW 14 32,419,013 (GRCm38) missense probably damaging 0.97
R6648:Chat UTSW 14 32,454,694 (GRCm38) missense probably benign 0.17
R6980:Chat UTSW 14 32,424,154 (GRCm38) missense probably benign 0.15
R7203:Chat UTSW 14 32,419,057 (GRCm38) missense probably damaging 1.00
R7336:Chat UTSW 14 32,423,256 (GRCm38) splice site probably null
R7530:Chat UTSW 14 32,408,958 (GRCm38) nonsense probably null
R8782:Chat UTSW 14 32,424,198 (GRCm38) missense probably benign 0.00
R8941:Chat UTSW 14 32,409,006 (GRCm38) missense probably benign 0.43
R9496:Chat UTSW 14 32,426,162 (GRCm38) missense probably benign 0.00
R9560:Chat UTSW 14 32,448,985 (GRCm38) nonsense probably null
X0014:Chat UTSW 14 32,446,933 (GRCm38) missense probably benign 0.01
X0066:Chat UTSW 14 32,453,831 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-11-11