Incidental Mutation 'R5094:Chat'
| ID |
388004 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chat
|
| Ensembl Gene |
ENSMUSG00000021919 |
| Gene Name |
choline acetyltransferase |
| Synonyms |
B230380D24Rik |
| MMRRC Submission |
042683-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.899)
|
| Stock # |
R5094 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
32408203-32465989 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32408939 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 582
(I582F)
|
| 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: I582F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000070865
Gene: ENSMUSG00000021919
AA Change: I582F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
24 |
612 |
5.5e-190 |
PFAM |
|
| Meta Mutation Damage Score |
0.6120 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.9%
|
| Validation Efficiency |
91% (40/44) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
G |
T |
15: 82,062,682 (GRCm38) |
G260V |
possibly damaging |
Het |
| Agap3 |
T |
C |
5: 24,451,321 (GRCm38) |
|
probably benign |
Het |
| Bicra |
A |
G |
7: 15,975,371 (GRCm38) |
S1173P |
probably damaging |
Het |
| C3 |
A |
T |
17: 57,225,033 (GRCm38) |
|
probably null |
Het |
| Cdh18 |
G |
A |
15: 22,714,539 (GRCm38) |
|
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,567,030 (GRCm38) |
K2274E |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,898,999 (GRCm38) |
|
probably benign |
Het |
| Chrnb4 |
T |
C |
9: 55,035,313 (GRCm38) |
I226V |
probably benign |
Het |
| Dnajc2 |
T |
C |
5: 21,776,732 (GRCm38) |
T139A |
probably damaging |
Het |
| Eml1 |
T |
C |
12: 108,536,311 (GRCm38) |
F712S |
probably benign |
Het |
| Fgfr1 |
C |
T |
8: 25,570,165 (GRCm38) |
S524L |
probably damaging |
Het |
| Gimap3 |
T |
C |
6: 48,765,372 (GRCm38) |
E208G |
probably damaging |
Het |
| Gm12185 |
T |
A |
11: 48,907,548 (GRCm38) |
D706V |
probably benign |
Het |
| Gucy1a2 |
T |
A |
9: 3,865,443 (GRCm38) |
V639D |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,132,149 (GRCm38) |
F1497S |
probably benign |
Het |
| Hunk |
A |
G |
16: 90,496,666 (GRCm38) |
D612G |
probably benign |
Het |
| Ifit3b |
T |
A |
19: 34,612,548 (GRCm38) |
S375T |
possibly damaging |
Het |
| Mucl1 |
A |
G |
15: 103,755,403 (GRCm38) |
S13P |
possibly damaging |
Het |
| Olfr1051 |
T |
A |
2: 86,276,040 (GRCm38) |
Y149F |
probably damaging |
Het |
| Olfr1135 |
C |
T |
2: 87,671,830 (GRCm38) |
C179Y |
possibly damaging |
Het |
| Pah |
T |
A |
10: 87,538,219 (GRCm38) |
Y78* |
probably null |
Het |
| Pex13 |
A |
G |
11: 23,655,441 (GRCm38) |
V263A |
probably benign |
Het |
| Pfdn2 |
T |
A |
1: 171,356,499 (GRCm38) |
|
probably benign |
Het |
| Phip |
C |
T |
9: 82,871,844 (GRCm38) |
V1616I |
probably benign |
Het |
| Pigg |
A |
G |
5: 108,336,257 (GRCm38) |
S457G |
possibly damaging |
Het |
| Ppp1r13b |
A |
G |
12: 111,843,610 (GRCm38) |
S97P |
probably benign |
Het |
| Slc22a6 |
T |
C |
19: 8,626,177 (GRCm38) |
L535P |
probably damaging |
Het |
| Slc5a1 |
A |
G |
5: 33,158,280 (GRCm38) |
T548A |
probably damaging |
Het |
| Smtnl2 |
T |
A |
11: 72,400,385 (GRCm38) |
S346C |
probably damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,705,044 (GRCm38) |
|
probably null |
Het |
| Tlcd2 |
T |
C |
11: 75,469,814 (GRCm38) |
S228P |
probably benign |
Het |
| Tmem135 |
A |
G |
7: 89,143,793 (GRCm38) |
L411P |
probably damaging |
Het |
| Tnrc6c |
T |
C |
11: 117,721,046 (GRCm38) |
V170A |
probably benign |
Het |
|
| Other mutations in Chat |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
R4760:Chat
|
UTSW |
14 |
32,453,737 (GRCm38) |
missense |
probably benign |
|
|
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 |
|
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
(F):5'- ACATTGGCTAGTGGGAGTAGTC -3'
(R):5'- TGTCCAATCATGCATGCCAAC -3'
Sequencing Primer
(F):5'- CTAGTGGGAGTAGTCAAGATTGC -3'
(R):5'- TCTACAGAGTGAGTTTCAGGACAGC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation