Incidental Mutation 'IGL01881:Asl'
ID 179037
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) question?
Stock # IGL01881
Quality Score
Status
Chromosome 5
Chromosomal Location 130040099-130053222 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 130047379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123861 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159619] [ENSMUST00000160129] [ENSMUST00000161094] [ENSMUST00000161640] [ENSMUST00000161884]
AlphaFold Q91YI0
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: 44,882,566 (GRCm39) Y160N probably damaging Het
Exoc8 T A 8: 125,623,090 (GRCm39) R426W probably damaging Het
Fam216a A G 5: 122,505,698 (GRCm39) Y114H probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm3402 A T 5: 146,451,408 (GRCm39) I89F possibly damaging Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Mterf4 A G 1: 93,232,363 (GRCm39) S163P probably damaging Het
Myo7b G A 18: 32,133,320 (GRCm39) probably benign Het
Pde6b A T 5: 108,569,366 (GRCm39) M358L probably benign Het
Ppp1cb A G 5: 32,635,487 (GRCm39) I44V probably benign Het
Slitrk3 T C 3: 72,956,639 (GRCm39) E711G probably benign Het
Trappc9 A T 15: 72,871,841 (GRCm39) L492Q probably damaging Het
Tulp2 C T 7: 45,170,219 (GRCm39) R297W probably damaging Het
Other mutations in Asl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01402:Asl APN 5 130,048,645 (GRCm39) missense probably damaging 0.96
IGL02055:Asl APN 5 130,041,891 (GRCm39) missense possibly damaging 0.85
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