Incidental Mutation 'IGL01881:Asl'
ID179037
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Asl
Ensembl Gene ENSMUSG00000025533
Gene Nameargininosuccinate lyase
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.441) question?
Stock #IGL01881
Quality Score
Status
Chromosome5
Chromosomal Location130011258-130029247 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to T at 130018538 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123861 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159619] [ENSMUST00000160129] [ENSMUST00000161094] [ENSMUST00000161640] [ENSMUST00000161884]
Predicted Effect probably benign
Transcript: ENSMUST00000159096
SMART Domains Protein: ENSMUSP00000125143
Gene: ENSMUSG00000025533

DomainStartEndE-ValueType
Pfam:Lyase_1 1 108 3.7e-32 PFAM
Pfam:ASL_C2 171 238 1.4e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159619
SMART Domains Protein: ENSMUSP00000123799
Gene: ENSMUSG00000025533

DomainStartEndE-ValueType
Pfam:Lyase_1 11 305 2e-107 PFAM
Pfam:ASL_C2 367 436 1.6e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160129
SMART Domains Protein: ENSMUSP00000124579
Gene: ENSMUSG00000025533

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000161094
SMART Domains Protein: ENSMUSP00000124274
Gene: ENSMUSG00000025533

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Lyase_1 11 262 7.2e-87 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161884
SMART Domains Protein: ENSMUSP00000123861
Gene: ENSMUSG00000025533

DomainStartEndE-ValueType
Pfam:Lyase_1 32 74 1.6e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162230
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: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cd3g A T 9: 44,971,268 Y160N probably damaging Het
Exoc8 T A 8: 124,896,351 R426W probably damaging Het
Fam216a A G 5: 122,367,635 Y114H probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm3402 A T 5: 146,514,598 I89F possibly damaging Het
Gm5862 A C 5: 26,022,771 W41G probably benign Het
Mterf4 A G 1: 93,304,641 S163P probably damaging Het
Myo7b G A 18: 32,000,267 probably benign Het
Pde6b A T 5: 108,421,500 M358L probably benign Het
Ppp1cb A G 5: 32,478,143 I44V probably benign Het
Slitrk3 T C 3: 73,049,306 E711G probably benign Het
Trappc9 A T 15: 72,999,992 L492Q probably damaging Het
Tulp2 C T 7: 45,520,795 R297W probably damaging Het
Other mutations in Asl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01402:Asl APN 5 130019804 missense probably damaging 0.96
IGL02055:Asl APN 5 130013050 missense possibly damaging 0.85
IGL02087:Asl APN 5 130011601 nonsense probably null
IGL02309:Asl APN 5 130019781 missense probably damaging 1.00
IGL03343:Asl APN 5 130012067 missense probably damaging 1.00
R2939:Asl UTSW 5 130013404 missense probably damaging 1.00
R3081:Asl UTSW 5 130013404 missense probably damaging 1.00
R4005:Asl UTSW 5 130018832 critical splice donor site probably null
R4611:Asl UTSW 5 130018316 missense probably damaging 1.00
R4883:Asl UTSW 5 130013961 critical splice donor site probably null
R5278:Asl UTSW 5 130018831 critical splice donor site probably null
R6176:Asl UTSW 5 130018879 missense probably benign
R6198:Asl UTSW 5 130018916 missense probably benign 0.00
R6878:Asl UTSW 5 130024292 critical splice donor site probably null
R7132:Asl UTSW 5 130014702 missense possibly damaging 0.57
R7146:Asl UTSW 5 130024449 unclassified probably benign
R7654:Asl UTSW 5 130018390 missense probably damaging 1.00
R8104:Asl UTSW 5 130011950 missense probably benign 0.31
R8410:Asl UTSW 5 130013510 missense possibly damaging 0.95
X0065:Asl UTSW 5 130013413 missense probably damaging 1.00
Posted On2014-05-07