Incidental Mutation 'IGL02055:Asl'
| ID |
185195 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Asl
|
| Ensembl Gene |
ENSMUSG00000025533 |
| Gene Name |
argininosuccinate lyase |
| Synonyms |
2510006M18Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.377)
|
| Stock # |
IGL02055
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
130040099-130053222 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 130041891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 309
(G309R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124274
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159619]
[ENSMUST00000160129]
[ENSMUST00000161094]
[ENSMUST00000161640]
|
| AlphaFold |
Q91YI0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000159096
AA Change: G111R
|
| SMART Domains |
Protein: ENSMUSP00000125143
Gene: ENSMUSG00000025533
AA Change: G111R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lyase_1
|
1 |
108 |
3.7e-32 |
PFAM |
|
Pfam:ASL_C2
|
171 |
238 |
1.4e-21 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159619
AA Change: G309R
PolyPhen 2
Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000123799
Gene: ENSMUSG00000025533
AA Change: G309R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lyase_1
|
11 |
305 |
2e-107 |
PFAM |
|
Pfam:ASL_C2
|
367 |
436 |
1.6e-26 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160129
AA Change: G309R
PolyPhen 2
Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124579
Gene: ENSMUSG00000025533
AA Change: G309R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lyase_1
|
11 |
305 |
1.8e-107 |
PFAM |
|
Pfam:ASL_C2
|
368 |
435 |
1.1e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160557
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161094
AA Change: G309R
PolyPhen 2
Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124274
Gene: ENSMUSG00000025533
AA Change: G309R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lyase_1
|
11 |
305 |
2e-107 |
PFAM |
|
Pfam:ASL_C2
|
367 |
436 |
1.6e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161640
|
| SMART Domains |
Protein: ENSMUSP00000124487
Gene: ENSMUSG00000025533
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lyase_1
|
11 |
262 |
7.2e-87 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene fed well initially but then stopped feeding and became inactive before dying within 48 hours of birth. Arginine metabolism is disrupted leading to abnormal circulating amino acid levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap1b1 |
T |
A |
11: 4,974,452 (GRCm39) |
C353* |
probably null |
Het |
| B4galnt4 |
T |
C |
7: 140,650,731 (GRCm39) |
F835S |
probably damaging |
Het |
| Bltp2 |
A |
G |
11: 78,177,457 (GRCm39) |
T1921A |
probably damaging |
Het |
| Carmil2 |
A |
G |
8: 106,423,539 (GRCm39) |
|
probably benign |
Het |
| Ccnt2 |
C |
A |
1: 127,719,447 (GRCm39) |
P116T |
possibly damaging |
Het |
| Clcn1 |
T |
G |
6: 42,284,489 (GRCm39) |
M609R |
probably damaging |
Het |
| Csmd1 |
A |
G |
8: 16,119,015 (GRCm39) |
I1858T |
probably damaging |
Het |
| Eefsec |
T |
C |
6: 88,353,385 (GRCm39) |
I95V |
probably damaging |
Het |
| Galk2 |
A |
G |
2: 125,773,324 (GRCm39) |
K252R |
probably benign |
Het |
| Gbp2 |
A |
T |
3: 142,337,991 (GRCm39) |
N369I |
probably benign |
Het |
| Glis2 |
G |
T |
16: 4,431,972 (GRCm39) |
|
probably benign |
Het |
| Igdcc3 |
T |
C |
9: 65,088,562 (GRCm39) |
V388A |
possibly damaging |
Het |
| Klhl1 |
A |
G |
14: 96,517,539 (GRCm39) |
F379S |
possibly damaging |
Het |
| Or5b12 |
T |
A |
19: 12,896,930 (GRCm39) |
I248F |
possibly damaging |
Het |
| Pigm |
C |
T |
1: 172,204,732 (GRCm39) |
S156L |
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,277,703 (GRCm39) |
|
probably null |
Het |
| Ppp6r3 |
A |
G |
19: 3,571,781 (GRCm39) |
F123L |
probably benign |
Het |
| Pum1 |
C |
A |
4: 130,481,365 (GRCm39) |
S637R |
probably benign |
Het |
| Rp1 |
A |
G |
1: 4,422,745 (GRCm39) |
S112P |
probably damaging |
Het |
| Serpina3k |
A |
T |
12: 104,307,295 (GRCm39) |
K176* |
probably null |
Het |
| Smad4 |
A |
G |
18: 73,774,999 (GRCm39) |
|
probably benign |
Het |
| Tas2r140 |
T |
A |
6: 40,468,493 (GRCm39) |
F108I |
probably damaging |
Het |
| Tbc1d20 |
G |
A |
2: 152,149,978 (GRCm39) |
R73H |
probably damaging |
Het |
| Tmem131l |
T |
C |
3: 83,817,673 (GRCm39) |
|
probably null |
Het |
| Tmem86b |
A |
C |
7: 4,631,762 (GRCm39) |
|
probably benign |
Het |
| Trav6-4 |
G |
A |
14: 53,692,237 (GRCm39) |
V115I |
probably benign |
Het |
| Trim37 |
T |
G |
11: 87,057,475 (GRCm39) |
V303G |
probably benign |
Het |
| Trpc7 |
C |
T |
13: 57,035,357 (GRCm39) |
R192Q |
probably benign |
Het |
| Ush1g |
T |
C |
11: 115,208,925 (GRCm39) |
D423G |
possibly damaging |
Het |
| Veph1 |
T |
A |
3: 66,113,048 (GRCm39) |
D252V |
possibly damaging |
Het |
| Vmn1r181 |
T |
G |
7: 23,683,978 (GRCm39) |
L148V |
probably damaging |
Het |
| Vmn1r42 |
T |
C |
6: 89,822,571 (GRCm39) |
|
probably benign |
Het |
| Vmn2r77 |
T |
A |
7: 86,450,763 (GRCm39) |
H216Q |
probably benign |
Het |
| Zfp39 |
A |
G |
11: 58,782,156 (GRCm39) |
V202A |
probably benign |
Het |
|
| Other mutations in Asl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01402:Asl
|
APN |
5 |
130,048,645 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01881:Asl
|
APN |
5 |
130,047,379 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02087:Asl
|
APN |
5 |
130,040,442 (GRCm39) |
nonsense |
probably null |
|
|
IGL02309:Asl
|
APN |
5 |
130,048,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03343:Asl
|
APN |
5 |
130,040,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2939:Asl
|
UTSW |
5 |
130,042,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3081:Asl
|
UTSW |
5 |
130,042,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4005:Asl
|
UTSW |
5 |
130,047,673 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4611:Asl
|
UTSW |
5 |
130,047,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4883:Asl
|
UTSW |
5 |
130,042,802 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5278:Asl
|
UTSW |
5 |
130,047,672 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6176:Asl
|
UTSW |
5 |
130,047,720 (GRCm39) |
missense |
probably benign |
|
|
R6198:Asl
|
UTSW |
5 |
130,047,757 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6878:Asl
|
UTSW |
5 |
130,053,133 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7132:Asl
|
UTSW |
5 |
130,043,543 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7146:Asl
|
UTSW |
5 |
130,053,290 (GRCm39) |
unclassified |
probably benign |
|
|
R7654:Asl
|
UTSW |
5 |
130,047,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8104:Asl
|
UTSW |
5 |
130,040,791 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8410:Asl
|
UTSW |
5 |
130,042,351 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9183:Asl
|
UTSW |
5 |
130,042,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9625:Asl
|
UTSW |
5 |
130,047,693 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0065:Asl
|
UTSW |
5 |
130,042,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation