Incidental Mutation 'R4195:Acmsd'
| ID |
318516 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acmsd
|
| Ensembl Gene |
ENSMUSG00000026348 |
| Gene Name |
amino carboxymuconate semialdehyde decarboxylase |
| Synonyms |
|
| MMRRC Submission |
041026-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4195 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
127729413-127767978 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 127749194 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 152
(L152R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038006]
|
| AlphaFold |
Q8R519 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038006
AA Change: L152R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048482
Gene: ENSMUSG00000026348
AA Change: L152R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Amidohydro_2
|
3 |
330 |
7.8e-78 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185310
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188163
|
| Meta Mutation Damage Score |
0.9200 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (40/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The neuronal excitotoxin quinolinate is an intermediate in the de novo synthesis pathway of NAD from tryptophan, and has been implicated in the pathogenesis of several neurodegenerative disorders. Quinolinate is derived from alpha-amino-beta-carboxy-muconate-epsilon-semialdehyde (ACMS). ACMSD (ACMS decarboxylase; EC 4.1.1.45) can divert ACMS to a benign catabolite and thus prevent the accumulation of quinolinate from ACMS.[supplied by OMIM, Oct 2004]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actg2 |
T |
G |
6: 83,523,173 (GRCm38) |
T39P |
probably damaging |
Het |
| Agap1 |
A |
G |
1: 89,834,539 (GRCm38) |
E531G |
probably damaging |
Het |
| Alox12b |
A |
G |
11: 69,169,600 (GRCm38) |
S661G |
probably benign |
Het |
| Apod |
T |
C |
16: 31,297,574 (GRCm38) |
M113V |
probably benign |
Het |
| Atl3 |
A |
G |
19: 7,518,546 (GRCm38) |
I171V |
possibly damaging |
Het |
| Atrn |
C |
A |
2: 130,933,412 (GRCm38) |
T145K |
probably damaging |
Het |
| Cacna1f |
A |
G |
X: 7,608,930 (GRCm38) |
H57R |
probably damaging |
Het |
| Cldn9 |
T |
C |
17: 23,683,174 (GRCm38) |
E159G |
probably damaging |
Het |
| Cnnm4 |
C |
A |
1: 36,499,508 (GRCm38) |
H590Q |
probably benign |
Het |
| Col19a1 |
G |
A |
1: 24,534,052 (GRCm38) |
S213L |
unknown |
Het |
| Cse1l |
A |
G |
2: 166,929,979 (GRCm38) |
T387A |
probably damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,243,186 (GRCm38) |
V675A |
possibly damaging |
Het |
| Fbll1 |
A |
G |
11: 35,797,666 (GRCm38) |
S257P |
possibly damaging |
Het |
| Fbll1 |
T |
A |
11: 35,797,872 (GRCm38) |
H188L |
possibly damaging |
Het |
| Frem2 |
A |
G |
3: 53,539,268 (GRCm38) |
F2360L |
possibly damaging |
Het |
| G3bp2 |
A |
G |
5: 92,055,416 (GRCm38) |
S349P |
probably damaging |
Het |
| Gm2396 |
A |
G |
9: 88,917,662 (GRCm38) |
|
noncoding transcript |
Het |
| Gm281 |
C |
A |
14: 13,829,772 (GRCm38) |
V657L |
probably benign |
Het |
| Gm6569 |
C |
T |
15: 73,836,243 (GRCm38) |
P22L |
probably damaging |
Het |
| Itih2 |
T |
C |
2: 10,115,285 (GRCm38) |
N314D |
probably damaging |
Het |
| Lman2l |
A |
C |
1: 36,424,941 (GRCm38) |
I266M |
probably damaging |
Het |
| Mrps9 |
T |
G |
1: 42,901,094 (GRCm38) |
|
probably benign |
Het |
| Mtmr11 |
T |
C |
3: 96,167,891 (GRCm38) |
|
probably benign |
Het |
| Neb |
G |
T |
2: 52,271,559 (GRCm38) |
R2074S |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,290,835 (GRCm38) |
H1226Q |
probably damaging |
Het |
| Nmi |
A |
C |
2: 51,948,620 (GRCm38) |
S301A |
probably benign |
Het |
| Olfr266 |
A |
T |
3: 106,822,012 (GRCm38) |
C182* |
probably null |
Het |
| Pclo |
A |
G |
5: 14,677,563 (GRCm38) |
|
probably benign |
Het |
| Pkd1l1 |
T |
A |
11: 8,909,929 (GRCm38) |
I560F |
probably damaging |
Het |
| Polr1e |
T |
C |
4: 45,019,327 (GRCm38) |
Y59H |
probably damaging |
Het |
| Slc30a4 |
G |
A |
2: 122,685,270 (GRCm38) |
T401M |
probably damaging |
Het |
| Tas1r3 |
T |
C |
4: 155,862,985 (GRCm38) |
E81G |
probably damaging |
Het |
| Zfp990 |
A |
T |
4: 145,536,977 (GRCm38) |
|
probably null |
Het |
| Zzz3 |
A |
G |
3: 152,428,465 (GRCm38) |
T387A |
probably benign |
Het |
|
| Other mutations in Acmsd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01586:Acmsd
|
APN |
1 |
127,759,710 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02203:Acmsd
|
APN |
1 |
127,738,605 (GRCm38) |
splice site |
probably benign |
|
|
IGL02209:Acmsd
|
APN |
1 |
127,759,755 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02429:Acmsd
|
APN |
1 |
127,759,716 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02577:Acmsd
|
APN |
1 |
127,739,959 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL02724:Acmsd
|
APN |
1 |
127,749,085 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
IGL03215:Acmsd
|
APN |
1 |
127,758,013 (GRCm38) |
nonsense |
probably null |
|
|
H8562:Acmsd
|
UTSW |
1 |
127,749,058 (GRCm38) |
missense |
probably benign |
|
|
R0535:Acmsd
|
UTSW |
1 |
127,765,943 (GRCm38) |
missense |
probably benign |
0.10 |
|
R0551:Acmsd
|
UTSW |
1 |
127,766,333 (GRCm38) |
missense |
probably benign |
0.05 |
|
R0593:Acmsd
|
UTSW |
1 |
127,738,603 (GRCm38) |
splice site |
probably benign |
|
|
R1282:Acmsd
|
UTSW |
1 |
127,738,560 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1633:Acmsd
|
UTSW |
1 |
127,753,855 (GRCm38) |
missense |
probably benign |
0.33 |
|
R1800:Acmsd
|
UTSW |
1 |
127,759,756 (GRCm38) |
nonsense |
probably null |
|
|
R3018:Acmsd
|
UTSW |
1 |
127,749,116 (GRCm38) |
missense |
probably benign |
0.11 |
|
R4196:Acmsd
|
UTSW |
1 |
127,749,194 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4288:Acmsd
|
UTSW |
1 |
127,738,572 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4591:Acmsd
|
UTSW |
1 |
127,749,197 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5172:Acmsd
|
UTSW |
1 |
127,753,848 (GRCm38) |
nonsense |
probably null |
|
|
R5637:Acmsd
|
UTSW |
1 |
127,766,313 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6147:Acmsd
|
UTSW |
1 |
127,729,420 (GRCm38) |
start gained |
probably benign |
|
|
R7055:Acmsd
|
UTSW |
1 |
127,753,833 (GRCm38) |
missense |
probably benign |
0.10 |
|
R7261:Acmsd
|
UTSW |
1 |
127,759,824 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7398:Acmsd
|
UTSW |
1 |
127,729,435 (GRCm38) |
start gained |
probably benign |
|
|
R8030:Acmsd
|
UTSW |
1 |
127,749,161 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R9081:Acmsd
|
UTSW |
1 |
127,759,731 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
X0067:Acmsd
|
UTSW |
1 |
127,759,731 (GRCm38) |
missense |
probably benign |
0.42 |
|
Z1176:Acmsd
|
UTSW |
1 |
127,745,802 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACTTTGGAGCTGTGCCAG -3'
(R):5'- CTTGGAAGTGTCCCATCATCCC -3'
Sequencing Primer
(F):5'- GGAGCTGTGCCAGTTTTTAAACAATG -3'
(R):5'- AGAATGATACACTCTTTTGGGAGG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation