Incidental Mutation 'IGL03343:Asl'
ID 417335
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: 0.396) question?
Stock # IGL03343
Quality Score
Status
Chromosome 5
Chromosomal Location 130040099-130053222 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 130040908 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 178 (Y178N)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159619] [ENSMUST00000160129] [ENSMUST00000161094] [ENSMUST00000161640]
AlphaFold Q91YI0
Predicted Effect probably damaging
Transcript: ENSMUST00000159096
AA Change: Y178N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125143
Gene: ENSMUSG00000025533
AA Change: Y178N

DomainStartEndE-ValueType
Pfam:Lyase_1 1 108 3.7e-32 PFAM
Pfam:ASL_C2 171 238 1.4e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000159619
AA Change: Y376N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123799
Gene: ENSMUSG00000025533
AA Change: Y376N

DomainStartEndE-ValueType
Pfam:Lyase_1 11 305 2e-107 PFAM
Pfam:ASL_C2 367 436 1.6e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000160129
AA Change: Y376N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124579
Gene: ENSMUSG00000025533
AA Change: Y376N

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 damaging
Transcript: ENSMUST00000161094
AA Change: Y376N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124274
Gene: ENSMUSG00000025533
AA Change: Y376N

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
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 A G 7: 66,725,064 (GRCm39) H795R probably damaging Het
Adgrl2 A T 3: 148,565,016 (GRCm39) I188K probably damaging Het
Adgrv1 A G 13: 81,431,507 (GRCm39) Y5974H probably damaging Het
Angpt4 A G 2: 151,778,623 (GRCm39) T336A probably damaging Het
Arhgap30 C A 1: 171,236,662 (GRCm39) T1012N probably damaging Het
Brd1 C A 15: 88,591,454 (GRCm39) L714F possibly damaging Het
Ccdc47 A G 11: 106,095,788 (GRCm39) S303P probably damaging Het
Cdcp3 T A 7: 130,848,420 (GRCm39) I858N probably damaging Het
Cdk16 A G X: 20,561,998 (GRCm39) K264E probably damaging Het
Cenpc1 A T 5: 86,164,181 (GRCm39) F813L probably damaging Het
Cfp A C X: 20,794,248 (GRCm39) F291C possibly damaging Het
Chordc1 T G 9: 18,223,762 (GRCm39) F276V probably damaging Het
Clic4 C T 4: 134,945,889 (GRCm39) R176H possibly damaging Het
Fcer1a T G 1: 173,053,040 (GRCm39) N52T possibly damaging Het
Fndc7 A T 3: 108,774,624 (GRCm39) C545S probably damaging Het
Frem2 T C 3: 53,559,674 (GRCm39) D1611G probably damaging Het
Fryl G A 5: 73,234,038 (GRCm39) P1496S probably benign Het
Gga3 A T 11: 115,483,312 (GRCm39) N82K probably damaging Het
Gm43638 G A 5: 87,608,484 (GRCm39) P452S possibly damaging Het
Gpn1 T C 5: 31,662,309 (GRCm39) S244P probably damaging Het
Hspa12a T C 19: 58,787,828 (GRCm39) S665G probably benign Het
Htt A G 5: 34,983,385 (GRCm39) I995V probably benign Het
Iars1 A T 13: 49,878,223 (GRCm39) I916L probably benign Het
Ice1 C A 13: 70,751,048 (GRCm39) L1679F probably damaging Het
Inpp1 A T 1: 52,838,486 (GRCm39) D54E probably damaging Het
Irf2bpl T C 12: 86,929,713 (GRCm39) E320G possibly damaging Het
Itprid1 T G 6: 55,945,569 (GRCm39) D763E probably damaging Het
Kcnn2 T C 18: 45,810,026 (GRCm39) V421A probably damaging Het
Micu2 A G 14: 58,154,768 (GRCm39) V419A probably benign Het
Nek9 C T 12: 85,350,383 (GRCm39) C897Y probably damaging Het
Ofcc1 A C 13: 40,226,140 (GRCm39) H797Q probably benign Het
Or12d17 G A 17: 37,777,300 (GRCm39) D68N probably damaging Het
Or2y16 C A 11: 49,335,070 (GRCm39) H131N probably damaging Het
Or5m12 T C 2: 85,735,285 (GRCm39) T38A probably benign Het
Or6c69c T G 10: 129,911,125 (GRCm39) L282R probably damaging Het
Pakap C T 4: 57,688,502 (GRCm39) T115M probably damaging Het
Papss1 G A 3: 131,288,950 (GRCm39) G151S probably benign Het
Plxnb1 A G 9: 108,943,780 (GRCm39) T1956A probably damaging Het
Pomt1 A G 2: 32,143,724 (GRCm39) probably benign Het
Ppfibp2 T A 7: 107,337,126 (GRCm39) Y570* probably null Het
Ppp1r9a A G 6: 5,046,015 (GRCm39) E493G probably damaging Het
Ptk2b A G 14: 66,406,870 (GRCm39) F621L probably benign Het
Ptpn13 G T 5: 103,702,816 (GRCm39) D1261Y possibly damaging Het
Ptprd C T 4: 75,977,966 (GRCm39) G181D probably damaging Het
Rabgap1l T C 1: 160,270,853 (GRCm39) T645A probably benign Het
Slc2a7 T C 4: 150,252,797 (GRCm39) I479T probably damaging Het
Smc3 A G 19: 53,602,273 (GRCm39) N40S probably damaging Het
Spata31 A T 13: 65,067,587 (GRCm39) D83V probably benign Het
Sptb C T 12: 76,630,330 (GRCm39) probably benign Het
Ssc4d A T 5: 135,990,028 (GRCm39) C493* probably null Het
Styxl2 T C 1: 165,927,017 (GRCm39) D865G probably benign Het
Ubr2 C A 17: 47,262,844 (GRCm39) V1256L probably benign Het
Ubr3 T C 2: 69,803,490 (GRCm39) probably benign Het
Vmn2r105 C T 17: 20,446,631 (GRCm39) W456* probably null Het
Vmn2r24 T A 6: 123,793,070 (GRCm39) I799N probably damaging Het
Vps13b G A 15: 35,917,316 (GRCm39) G3720D possibly damaging Het
Other mutations in Asl
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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 2016-08-02