Incidental Mutation 'R5411:Ache'
| ID |
427469 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ache
|
| Ensembl Gene |
ENSMUSG00000023328 |
| Gene Name |
acetylcholinesterase |
| Synonyms |
|
| MMRRC Submission |
042980-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.683)
|
| Stock # |
R5411 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
137286516-137292728 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 137288326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 11
(P11S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024099]
[ENSMUST00000052825]
[ENSMUST00000085934]
[ENSMUST00000125195]
[ENSMUST00000132191]
[ENSMUST00000137126]
[ENSMUST00000138591]
[ENSMUST00000141123]
[ENSMUST00000196208]
|
| AlphaFold |
P21836 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024099
AA Change: P11S
PolyPhen 2
Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000024099
Gene: ENSMUSG00000023328
AA Change: P11S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
14 |
563 |
2e-186 |
PFAM |
|
Pfam:Abhydrolase_3
|
146 |
276 |
7.5e-9 |
PFAM |
|
Pfam:AChE_tetra
|
578 |
614 |
3.2e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052825
|
| SMART Domains |
Protein: ENSMUSP00000056156
Gene: ENSMUSG00000051502
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C78
|
27 |
212 |
5.4e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085934
AA Change: P11S
PolyPhen 2
Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000083097
Gene: ENSMUSG00000023328
AA Change: P11S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
15 |
563 |
3e-178 |
PFAM |
|
Pfam:Abhydrolase_3
|
146 |
260 |
1.4e-7 |
PFAM |
|
Pfam:AChE_tetra
|
578 |
613 |
3.2e-23 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000125195
AA Change: P11S
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000132191
AA Change: P11S
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000137126
AA Change: P11S
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000138591
AA Change: P11S
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000141123
AA Change: P11S
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150983
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000196208
AA Change: P11S
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142427
Gene: ENSMUSG00000023328
AA Change: P11S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
14 |
359 |
6.5e-134 |
PFAM |
|
Pfam:Abhydrolase_3
|
146 |
284 |
4.1e-7 |
PFAM |
|
Pfam:COesterase
|
355 |
475 |
1.5e-25 |
PFAM |
|
Pfam:AChE_tetra
|
490 |
526 |
2.2e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184134
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196840
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Acetylcholinesterase hydrolyzes the neurotransmitter, acetylcholine at neuromuscular junctions and brain cholinergic synapses, and thus terminates signal transmission. It is also found on the red blood cell membranes, where it constitutes the Yt blood group antigen. Acetylcholinesterase exists in multiple molecular forms which possess similar catalytic properties, but differ in their oligomeric assembly and mode of cell attachment to the cell surface. It is encoded by the single ACHE gene, and the structural diversity in the gene products arises from alternative mRNA splicing, and post-translational associations of catalytic and structural subunits. The major form of acetylcholinesterase found in brain, muscle and other tissues is the hydrophilic species, which forms disulfide-linked oligomers with collagenous, or lipid-containing structural subunits. The other, alternatively spliced form, expressed primarily in the erythroid tissues, differs at the C-terminal end, and contains a cleavable hydrophobic peptide with a GPI-anchor site. It associates with the membranes through the phosphoinositide (PI) moieties added post-translationally. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants show retarded postnatal development, tremors, impaired righting response, delayed maturation of external ear, failure of eyelids to open, and die by 3-wk. of age. Mutants are highly sensitive to butyrylcholinesterase inhibitor toxicity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat1 |
C |
A |
9: 53,493,946 (GRCm39) |
V392F |
probably damaging |
Het |
| Acoxl |
A |
T |
2: 127,696,821 (GRCm39) |
H23L |
probably benign |
Het |
| Adamtsl1 |
G |
A |
4: 86,306,650 (GRCm39) |
|
probably null |
Het |
| Adar |
T |
A |
3: 89,646,519 (GRCm39) |
F45I |
probably benign |
Het |
| Adgrf4 |
A |
C |
17: 42,978,104 (GRCm39) |
L413R |
probably damaging |
Het |
| Atp6v1g3 |
A |
T |
1: 138,215,627 (GRCm39) |
I96F |
probably benign |
Het |
| Brsk2 |
T |
C |
7: 141,554,594 (GRCm39) |
M653T |
probably benign |
Het |
| Cacna1s |
G |
T |
1: 136,033,549 (GRCm39) |
V1275L |
probably benign |
Het |
| Ces3b |
T |
C |
8: 105,815,264 (GRCm39) |
V5A |
possibly damaging |
Het |
| Chpt1 |
A |
T |
10: 88,312,969 (GRCm39) |
I281N |
probably damaging |
Het |
| Col10a1 |
A |
G |
10: 34,270,553 (GRCm39) |
E175G |
probably damaging |
Het |
| Col27a1 |
T |
C |
4: 63,142,902 (GRCm39) |
S197P |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 15,960,471 (GRCm39) |
R3315W |
probably damaging |
Het |
| Ctnna2 |
T |
C |
6: 77,091,914 (GRCm39) |
E443G |
probably damaging |
Het |
| Dhx9 |
G |
T |
1: 153,356,969 (GRCm39) |
S93R |
probably benign |
Het |
| Efcab8 |
A |
G |
2: 153,625,676 (GRCm39) |
H112R |
probably damaging |
Het |
| Eif3d |
A |
T |
15: 77,843,887 (GRCm39) |
N486K |
probably damaging |
Het |
| Esp8 |
C |
T |
17: 40,840,909 (GRCm39) |
R57* |
probably null |
Het |
| Eya3 |
A |
T |
4: 132,417,090 (GRCm39) |
I130F |
probably damaging |
Het |
| Fat2 |
G |
T |
11: 55,143,052 (GRCm39) |
L4266I |
probably benign |
Het |
| Fras1 |
T |
A |
5: 96,793,019 (GRCm39) |
D983E |
probably benign |
Het |
| Gcc2 |
T |
C |
10: 58,106,791 (GRCm39) |
S640P |
probably damaging |
Het |
| Gys2 |
C |
T |
6: 142,394,147 (GRCm39) |
G464R |
probably damaging |
Het |
| Heatr5a |
G |
A |
12: 51,935,026 (GRCm39) |
T1659I |
probably damaging |
Het |
| Il17ra |
A |
G |
6: 120,458,403 (GRCm39) |
D518G |
probably damaging |
Het |
| Kcnk13 |
A |
G |
12: 100,027,510 (GRCm39) |
Y195C |
probably damaging |
Het |
| Kmt2a |
T |
A |
9: 44,759,782 (GRCm39) |
H722L |
probably damaging |
Het |
| Luzp1 |
C |
A |
4: 136,270,653 (GRCm39) |
Q959K |
possibly damaging |
Het |
| Mep1b |
T |
A |
18: 21,219,306 (GRCm39) |
H153Q |
probably damaging |
Het |
| Mfsd13b |
A |
T |
7: 120,599,346 (GRCm39) |
I381F |
probably benign |
Het |
| Mvk |
A |
G |
5: 114,597,034 (GRCm39) |
T334A |
probably benign |
Het |
| Naa30 |
T |
C |
14: 49,425,008 (GRCm39) |
V320A |
probably damaging |
Het |
| Naip5 |
C |
T |
13: 100,382,254 (GRCm39) |
G152S |
possibly damaging |
Het |
| Neb |
A |
C |
2: 52,185,384 (GRCm39) |
S949R |
probably damaging |
Het |
| Nfya |
A |
T |
17: 48,699,046 (GRCm39) |
I214N |
possibly damaging |
Het |
| Nsf |
G |
T |
11: 103,773,637 (GRCm39) |
N292K |
probably damaging |
Het |
| Nup133 |
T |
C |
8: 124,653,945 (GRCm39) |
T505A |
probably benign |
Het |
| Or4c1 |
A |
C |
2: 89,133,920 (GRCm39) |
S5R |
probably benign |
Het |
| Or4p7 |
A |
G |
2: 88,221,605 (GRCm39) |
T5A |
probably benign |
Het |
| Or5h24 |
T |
A |
16: 58,919,067 (GRCm39) |
H96L |
unknown |
Het |
| Or9s23 |
A |
T |
1: 92,501,546 (GRCm39) |
T218S |
probably benign |
Het |
| P4ha3 |
A |
T |
7: 99,943,022 (GRCm39) |
R136W |
probably damaging |
Het |
| Parp12 |
A |
G |
6: 39,067,142 (GRCm39) |
V550A |
probably damaging |
Het |
| Phf11a |
T |
C |
14: 59,532,387 (GRCm39) |
D16G |
probably benign |
Het |
| Pramel31 |
T |
A |
4: 144,088,207 (GRCm39) |
M1K |
probably null |
Het |
| Rab3gap2 |
A |
G |
1: 185,009,342 (GRCm39) |
|
probably null |
Het |
| Sco1 |
A |
G |
11: 66,954,784 (GRCm39) |
D263G |
probably damaging |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Homo |
| Sfpq |
T |
A |
4: 126,915,516 (GRCm39) |
S103T |
unknown |
Het |
| Shisa7 |
G |
A |
7: 4,832,975 (GRCm39) |
R263C |
probably damaging |
Het |
| Ssc4d |
T |
A |
5: 135,992,254 (GRCm39) |
D144V |
probably benign |
Het |
| Stxbp5l |
G |
A |
16: 36,950,213 (GRCm39) |
P1044L |
probably damaging |
Het |
| Tgm6 |
G |
A |
2: 129,987,116 (GRCm39) |
R528Q |
probably benign |
Het |
| Tlr3 |
A |
T |
8: 45,849,992 (GRCm39) |
H892Q |
probably benign |
Het |
| Tmc2 |
A |
G |
2: 130,082,035 (GRCm39) |
H406R |
probably damaging |
Het |
| Tmtc1 |
A |
T |
6: 148,345,397 (GRCm39) |
|
probably null |
Het |
| Ttc19 |
A |
G |
11: 62,174,977 (GRCm39) |
I139M |
probably benign |
Het |
| Utrn |
G |
A |
10: 12,524,929 (GRCm39) |
R2185C |
probably benign |
Het |
| Wdfy4 |
T |
C |
14: 32,681,959 (GRCm39) |
N3004S |
probably damaging |
Het |
| Wdr3 |
C |
A |
3: 100,050,300 (GRCm39) |
G746W |
probably damaging |
Het |
| Zfp335 |
T |
A |
2: 164,744,165 (GRCm39) |
Q500L |
probably damaging |
Het |
| Zfp804b |
A |
T |
5: 6,820,071 (GRCm39) |
D961E |
probably benign |
Het |
| Zkscan16 |
CTTCAGCTTTCA |
CTTCA |
4: 58,956,745 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ache |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02323:Ache
|
APN |
5 |
137,289,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02833:Ache
|
APN |
5 |
137,289,371 (GRCm39) |
unclassified |
probably benign |
|
|
R0058:Ache
|
UTSW |
5 |
137,289,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0358:Ache
|
UTSW |
5 |
137,288,635 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0377:Ache
|
UTSW |
5 |
137,289,190 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0780:Ache
|
UTSW |
5 |
137,288,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1233:Ache
|
UTSW |
5 |
137,288,419 (GRCm39) |
splice site |
probably null |
|
|
R1702:Ache
|
UTSW |
5 |
137,289,251 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1762:Ache
|
UTSW |
5 |
137,288,837 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4191:Ache
|
UTSW |
5 |
137,289,334 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4226:Ache
|
UTSW |
5 |
137,289,152 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4499:Ache
|
UTSW |
5 |
137,290,194 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4931:Ache
|
UTSW |
5 |
137,290,176 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5411:Ache
|
UTSW |
5 |
137,288,692 (GRCm39) |
splice site |
probably null |
|
|
R5698:Ache
|
UTSW |
5 |
137,288,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6153:Ache
|
UTSW |
5 |
137,290,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6526:Ache
|
UTSW |
5 |
137,288,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6896:Ache
|
UTSW |
5 |
137,289,996 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6981:Ache
|
UTSW |
5 |
137,289,940 (GRCm39) |
missense |
probably benign |
|
|
R7199:Ache
|
UTSW |
5 |
137,288,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7208:Ache
|
UTSW |
5 |
137,289,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8200:Ache
|
UTSW |
5 |
137,292,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8338:Ache
|
UTSW |
5 |
137,290,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8461:Ache
|
UTSW |
5 |
137,288,582 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8933:Ache
|
UTSW |
5 |
137,288,449 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9146:Ache
|
UTSW |
5 |
137,289,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9376:Ache
|
UTSW |
5 |
137,289,025 (GRCm39) |
missense |
probably benign |
|
|
R9439:Ache
|
UTSW |
5 |
137,289,185 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0061:Ache
|
UTSW |
5 |
137,288,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTTATCTCAGTTGGCTGC -3'
(R):5'- AAATCTACGTGAGCCCACAGG -3'
Sequencing Primer
(F):5'- GTGTCGCGTCTCCTAGC -3'
(R):5'- CACAGGTGGCTCTGCAAAG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation