Incidental Mutation 'R4008:Adsl'
| ID |
311579 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adsl
|
| Ensembl Gene |
ENSMUSG00000022407 |
| Gene Name |
adenylosuccinate lyase |
| Synonyms |
|
| MMRRC Submission |
040946-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4008 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
80832691-80855147 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80850357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 359
(S359P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131998
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023043]
[ENSMUST00000164806]
[ENSMUST00000166711]
[ENSMUST00000168756]
[ENSMUST00000169238]
[ENSMUST00000207170]
[ENSMUST00000200201]
|
| AlphaFold |
P54822 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023043
AA Change: S359P
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000023043
Gene: ENSMUSG00000022407
AA Change: S359P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lyase_1
|
49 |
313 |
4.4e-29 |
PFAM |
|
ADSL_C
|
377 |
461 |
5.65e-28 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163575
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164806
AA Change: S359P
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000131998
Gene: ENSMUSG00000022407
AA Change: S359P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lyase_1
|
47 |
313 |
8.4e-29 |
PFAM |
|
Blast:ADSL_C
|
377 |
416 |
2e-6 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166711
|
| SMART Domains |
Protein: ENSMUSP00000129601
Gene: ENSMUSG00000022407
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2VD6|D
|
1 |
134 |
3e-87 |
PDB |
|
SCOP:d1c3ca_
|
20 |
134 |
9e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168756
AA Change: S344P
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000127593
Gene: ENSMUSG00000022407
AA Change: S344P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lyase_1
|
115 |
298 |
3.9e-25 |
PFAM |
|
ADSL_C
|
362 |
446 |
5.65e-28 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169238
|
| SMART Domains |
Protein: ENSMUSP00000132423
Gene: ENSMUSG00000022407
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2VD6|D
|
1 |
134 |
3e-87 |
PDB |
|
SCOP:d1c3ca_
|
20 |
134 |
9e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199284
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207170
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200201
|
| SMART Domains |
Protein: ENSMUSP00000143188
Gene: ENSMUSG00000022407
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2VD6|D
|
1 |
119 |
6e-77 |
PDB |
|
SCOP:d1c3ca_
|
20 |
119 |
4e-21 |
SMART |
|
| Meta Mutation Damage Score |
0.1018 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| Validation Efficiency |
97% (32/33) |
| MGI Phenotype |
FUNCTION: This gene encodes a protein that is involved in adenosine monophosphate (AMP) biosynthesis and maintaining AMP levels in the muscle. The encoded enzyme catalyzes the release of fumarate during AMP biosynthesis by cleaving the substrates succinylaminoimidazole carboxamide (SAICA) ribotide to give aminoimidazole carboxamide (AICA) ribotide, and adenylosuccinate to give adenylate. In humans, this gene is associated with adenylosuccinate deficiency, a rare autosomal disorder resulting in a spectrum of neurological symptoms. A pseudogene associated with this gene is located on the X chromosome. [provided by RefSeq, Jan 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
T |
A |
2: 155,399,548 (GRCm39) |
L529Q |
probably damaging |
Het |
| Batf2 |
G |
A |
19: 6,221,378 (GRCm39) |
E63K |
probably damaging |
Het |
| Chd1l |
A |
T |
3: 97,477,718 (GRCm39) |
M679K |
probably benign |
Het |
| Clvs2 |
G |
A |
10: 33,419,458 (GRCm39) |
H199Y |
probably damaging |
Het |
| F830045P16Rik |
A |
T |
2: 129,305,467 (GRCm39) |
N302K |
probably damaging |
Het |
| H2-K2 |
G |
A |
17: 34,218,525 (GRCm39) |
|
probably benign |
Het |
| Ifit2 |
G |
T |
19: 34,551,445 (GRCm39) |
M328I |
probably benign |
Het |
| Larp7 |
T |
C |
3: 127,334,519 (GRCm39) |
D490G |
probably benign |
Het |
| Map9 |
T |
C |
3: 82,266,390 (GRCm39) |
Y12H |
probably damaging |
Het |
| Mn1 |
G |
T |
5: 111,568,035 (GRCm39) |
E668D |
probably benign |
Het |
| Mrps18c |
T |
C |
5: 100,950,982 (GRCm39) |
|
probably benign |
Het |
| Npdc1 |
T |
A |
2: 25,298,992 (GRCm39) |
Y237* |
probably null |
Het |
| Oprm1 |
A |
G |
10: 6,782,520 (GRCm39) |
M388V |
probably benign |
Het |
| Or10ag57 |
A |
T |
2: 87,218,924 (GRCm39) |
I292F |
possibly damaging |
Het |
| Or4n5 |
A |
G |
14: 50,132,464 (GRCm39) |
L265P |
probably benign |
Het |
| Or5h24 |
G |
A |
16: 58,919,124 (GRCm39) |
T77I |
unknown |
Het |
| Pkn2 |
T |
C |
3: 142,516,219 (GRCm39) |
D568G |
possibly damaging |
Het |
| Pwp1 |
A |
G |
10: 85,717,898 (GRCm39) |
T279A |
possibly damaging |
Het |
| Rabep2 |
C |
A |
7: 126,044,546 (GRCm39) |
D547E |
probably damaging |
Het |
| Rbm34 |
T |
C |
8: 127,676,037 (GRCm39) |
K426R |
probably benign |
Het |
| Rgs14 |
T |
G |
13: 55,517,726 (GRCm39) |
L8V |
probably damaging |
Het |
| Ripor2 |
A |
G |
13: 24,880,521 (GRCm39) |
H407R |
probably benign |
Het |
| Serpina3a |
A |
T |
12: 104,084,902 (GRCm39) |
D99V |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc39a12 |
T |
C |
2: 14,456,928 (GRCm39) |
F603L |
probably damaging |
Het |
| Smg5 |
T |
C |
3: 88,256,465 (GRCm39) |
S244P |
probably benign |
Het |
| St3gal3 |
T |
C |
4: 117,797,637 (GRCm39) |
I252V |
probably benign |
Het |
| Tars3 |
T |
A |
7: 65,327,876 (GRCm39) |
D528E |
probably damaging |
Het |
| Try10 |
A |
G |
6: 41,333,608 (GRCm39) |
T118A |
probably benign |
Het |
| Tshr |
C |
T |
12: 91,504,268 (GRCm39) |
S402L |
probably benign |
Het |
|
| Other mutations in Adsl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01637:Adsl
|
APN |
15 |
80,832,901 (GRCm39) |
missense |
probably null |
0.24 |
|
IGL02249:Adsl
|
APN |
15 |
80,844,676 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL03009:Adsl
|
APN |
15 |
80,836,444 (GRCm39) |
nonsense |
probably null |
|
|
R0046:Adsl
|
UTSW |
15 |
80,846,989 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0046:Adsl
|
UTSW |
15 |
80,846,989 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0194:Adsl
|
UTSW |
15 |
80,845,561 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0575:Adsl
|
UTSW |
15 |
80,847,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1111:Adsl
|
UTSW |
15 |
80,851,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1606:Adsl
|
UTSW |
15 |
80,836,425 (GRCm39) |
nonsense |
probably null |
|
|
R1822:Adsl
|
UTSW |
15 |
80,846,943 (GRCm39) |
nonsense |
probably null |
|
|
R2152:Adsl
|
UTSW |
15 |
80,851,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2284:Adsl
|
UTSW |
15 |
80,848,096 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4010:Adsl
|
UTSW |
15 |
80,850,357 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4011:Adsl
|
UTSW |
15 |
80,850,357 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4202:Adsl
|
UTSW |
15 |
80,836,417 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4587:Adsl
|
UTSW |
15 |
80,851,968 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5053:Adsl
|
UTSW |
15 |
80,844,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5086:Adsl
|
UTSW |
15 |
80,847,901 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5123:Adsl
|
UTSW |
15 |
80,836,495 (GRCm39) |
splice site |
probably null |
|
|
R5187:Adsl
|
UTSW |
15 |
80,833,106 (GRCm39) |
intron |
probably benign |
|
|
R5416:Adsl
|
UTSW |
15 |
80,836,384 (GRCm39) |
splice site |
probably null |
|
|
R5532:Adsl
|
UTSW |
15 |
80,848,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5898:Adsl
|
UTSW |
15 |
80,845,554 (GRCm39) |
splice site |
probably null |
|
|
R7401:Adsl
|
UTSW |
15 |
80,846,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8544:Adsl
|
UTSW |
15 |
80,832,734 (GRCm39) |
start gained |
probably benign |
|
|
R9712:Adsl
|
UTSW |
15 |
80,839,840 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCTGCAGCTAGAAGTGGAG -3'
(R):5'- TGTATGCACGTCTGTCTGTC -3'
Sequencing Primer
(F):5'- CTAGAAGTGGAGGAGGTAAGGGTTG -3'
(R):5'- GTCAGTTCCACAGATCTGGC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation