Incidental Mutation 'R8104:Asl'
ID 630636
Institutional Source Beutler Lab
Gene Symbol Asl
Ensembl Gene ENSMUSG00000025533
Gene Name argininosuccinate lyase
Synonyms 2510006M18Rik
MMRRC Submission 067535-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.377) question?
Stock # R8104 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 130040099-130053222 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 130040791 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 389 (E389K)
Ref Sequence ENSEMBL: ENSMUSP00000124274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159619] [ENSMUST00000160129] [ENSMUST00000161094] [ENSMUST00000161640]
AlphaFold Q91YI0
Predicted Effect
SMART Domains Protein: ENSMUSP00000125143
Gene: ENSMUSG00000025533
AA Change: E191K

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
AA Change: E389K

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000123799
Gene: ENSMUSG00000025533
AA Change: E389K

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
AA Change: E389K

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000124579
Gene: ENSMUSG00000025533
AA Change: E389K

DomainStartEndE-ValueType
Pfam:Lyase_1 11 305 1.8e-107 PFAM
Pfam:ASL_C2 368 435 1.1e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161094
AA Change: E389K

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000124274
Gene: ENSMUSG00000025533
AA Change: E389K

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
  • 1x: 99.8%
  • 3x: 99.5%
  • 10x: 98.6%
  • 20x: 94.6%
Validation Efficiency 98% (54/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg2 C A 17: 57,152,443 (GRCm39) L666F probably benign Het
Adgrv1 A T 13: 81,588,344 (GRCm39) V4414E possibly damaging Het
Apoc3 T G 9: 46,144,585 (GRCm39) D79A probably damaging Het
Arfgap1 T A 2: 180,621,022 (GRCm39) probably null Het
Ascc1 T C 10: 59,843,551 (GRCm39) S38P probably benign Het
Atat1 A T 17: 36,215,008 (GRCm39) I215K probably benign Het
Bod1l A T 5: 41,991,075 (GRCm39) L160* probably null Het
Cbl C A 9: 44,069,836 (GRCm39) S637I possibly damaging Het
Ccdc112 A C 18: 46,420,720 (GRCm39) S343R probably benign Het
Cr1l A G 1: 194,799,925 (GRCm39) S250P possibly damaging Het
Cspg4b T A 13: 113,456,263 (GRCm39) F770I Het
Dlgap3 A G 4: 127,129,947 (GRCm39) E907G probably damaging Het
Dsp A T 13: 38,352,600 (GRCm39) E159D probably benign Het
Ech1 G A 7: 28,524,728 (GRCm39) probably benign Het
Erbin G T 13: 103,971,485 (GRCm39) N710K possibly damaging Het
Fbxw28 A T 9: 109,155,357 (GRCm39) probably null Het
Gm4871 G C 5: 144,969,012 (GRCm39) D100E probably damaging Het
Got1l1 A G 8: 27,687,619 (GRCm39) I388T probably damaging Het
Ing5 T A 1: 93,744,166 (GRCm39) N184K probably damaging Het
Izumo3 A T 4: 92,035,145 (GRCm39) L24* probably null Het
Lig1 T C 7: 13,020,491 (GRCm39) V99A possibly damaging Het
Mbtps1 A G 8: 120,255,794 (GRCm39) Y488H possibly damaging Het
Muc5ac A G 7: 141,358,520 (GRCm39) Y1240C possibly damaging Het
Nav3 T C 10: 109,594,828 (GRCm39) T1458A probably damaging Het
Nedd1 T C 10: 92,527,778 (GRCm39) E472G probably damaging Het
Nod2 A T 8: 89,391,685 (GRCm39) H664L possibly damaging Het
Ntrk3 A G 7: 78,227,450 (GRCm39) S28P probably damaging Het
Or14a257 A G 7: 86,138,231 (GRCm39) F176S probably damaging Het
Or1i2 C T 10: 78,448,242 (GRCm39) V78I probably benign Het
Or2ag17 T A 7: 106,390,338 (GRCm39) probably benign Het
Or2ag17 C A 7: 106,390,337 (GRCm39) probably benign Het
Or6c66b T A 10: 129,376,826 (GRCm39) M140K probably benign Het
Pcdha4 G T 18: 37,087,106 (GRCm39) G430W probably damaging Het
Pcnx1 T A 12: 82,030,385 (GRCm39) Y1114* probably null Het
Pde6a T A 18: 61,364,566 (GRCm39) D207E probably damaging Het
Plekhg1 T A 10: 3,902,326 (GRCm39) I540N Het
Pnp2 A T 14: 51,197,099 (GRCm39) I62F probably benign Het
Rarg C A 15: 102,148,334 (GRCm39) D258Y probably damaging Het
Rnps1 T A 17: 24,643,484 (GRCm39) M262K unknown Het
Scaf11 T C 15: 96,316,483 (GRCm39) D1027G probably benign Het
Serpina3a A T 12: 104,079,110 (GRCm39) probably benign Het
Slc25a1 A G 16: 17,744,297 (GRCm39) probably null Het
Slc44a3 A C 3: 121,291,521 (GRCm39) V365G probably benign Het
Slc45a3 T C 1: 131,904,754 (GRCm39) F26L probably benign Het
Slc9a2 T A 1: 40,757,809 (GRCm39) I116K probably damaging Het
Stk36 T A 1: 74,665,756 (GRCm39) S700T probably benign Het
Tekt3 A G 11: 62,968,945 (GRCm39) D224G probably benign Het
Tgtp1 A T 11: 48,877,841 (GRCm39) I288N probably damaging Het
Ttn C T 2: 76,710,567 (GRCm39) V8485M unknown Het
Tubg1 G T 11: 101,014,854 (GRCm39) A199S probably benign Het
Uso1 T A 5: 92,306,280 (GRCm39) I79K probably damaging Het
Utp20 C T 10: 88,593,766 (GRCm39) D2215N probably damaging Het
Wdr43 C T 17: 71,923,350 (GRCm39) A32V probably benign Het
Zfp704 T C 3: 9,630,301 (GRCm39) D170G probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- ATCAGCTTCTGGGATGCAG -3'
(R):5'- AAGCTCACCTTTTGCTGGTC -3'

Sequencing Primer
(F):5'- TTCTGGGATGCAGCAGAGC -3'
(R):5'- ACGCCTCCAGATTCATCGTGAG -3'
Posted On 2020-06-30