Incidental Mutation 'R2939:Asl'
ID 264566
Institutional Source Beutler Lab
Gene Symbol Asl
Ensembl Gene ENSMUSG00000025533
Gene Name argininosuccinate lyase
Synonyms 2510006M18Rik
MMRRC Submission 040516-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.377) question?
Stock # R2939 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 130040099-130053222 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 130042245 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 277 (Y277C)
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: Y79C
SMART Domains Protein: ENSMUSP00000125143
Gene: ENSMUSG00000025533
AA Change: Y79C

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: Y277C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123799
Gene: ENSMUSG00000025533
AA Change: Y277C

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: Y277C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124579
Gene: ENSMUSG00000025533
AA Change: Y277C

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: Y277C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124274
Gene: ENSMUSG00000025533
AA Change: Y277C

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
Meta Mutation Damage Score 0.9017 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.6%
Validation Efficiency 98% (62/63)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 T C 9: 107,808,409 (GRCm39) Y911H possibly damaging Het
Arhgef26 A C 3: 62,288,331 (GRCm39) K467T possibly damaging Het
Armcx6 A T X: 133,650,625 (GRCm39) W69R probably damaging Het
Atm T C 9: 53,406,011 (GRCm39) Y1219C probably damaging Het
Azin2 C T 4: 128,828,397 (GRCm39) C270Y probably benign Het
Brsk1 A T 7: 4,711,139 (GRCm39) I545F possibly damaging Het
Carm1 C A 9: 21,490,692 (GRCm39) probably null Het
Cfap410 A G 10: 77,817,507 (GRCm39) N78S probably benign Het
Cfap69 G A 5: 5,694,432 (GRCm39) A143V probably damaging Het
Cldn14 T C 16: 93,716,192 (GRCm39) K218R probably damaging Het
Col5a3 T C 9: 20,706,954 (GRCm39) K714R unknown Het
Crybg2 A G 4: 133,809,745 (GRCm39) H1517R possibly damaging Het
Dagla A C 19: 10,233,728 (GRCm39) F382C probably damaging Het
Dixdc1 G A 9: 50,622,259 (GRCm39) A25V probably damaging Het
Dock6 A G 9: 21,750,496 (GRCm39) F473L possibly damaging Het
Eif5 T C 12: 111,506,713 (GRCm39) C102R probably damaging Het
Faiml A G 9: 99,114,527 (GRCm39) C121R probably damaging Het
Fhdc1 A G 3: 84,364,577 (GRCm39) V223A possibly damaging Het
Garin4 T C 1: 190,896,103 (GRCm39) D180G possibly damaging Het
Gpatch8 A G 11: 102,399,010 (GRCm39) V74A unknown Het
Haghl A G 17: 26,004,060 (GRCm39) V8A possibly damaging Het
Ksr1 A G 11: 78,936,007 (GRCm39) probably null Het
Lama5 A C 2: 179,840,747 (GRCm39) Y584D probably damaging Het
Lgi4 C T 7: 30,767,253 (GRCm39) R427* probably null Het
Lrriq1 T A 10: 102,980,750 (GRCm39) S1462C probably damaging Het
Map3k4 C T 17: 12,480,157 (GRCm39) E682K probably damaging Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Nherf1 C T 11: 115,071,270 (GRCm39) R335C probably damaging Het
Nmnat2 C A 1: 152,950,474 (GRCm39) S53Y probably damaging Het
Or8b12i C A 9: 20,082,061 (GRCm39) G269W probably benign Het
Or8g34 G A 9: 39,373,226 (GRCm39) M166I probably benign Het
Pcsk7 C T 9: 45,827,322 (GRCm39) A363V probably damaging Het
Pdrg1 C T 2: 152,854,355 (GRCm39) G62R probably damaging Het
Pdzd7 A G 19: 45,033,862 (GRCm39) I74T possibly damaging Het
Plcb4 T C 2: 135,781,123 (GRCm39) probably benign Het
Pramel28 A G 4: 143,693,247 (GRCm39) V77A probably benign Het
Rnf25 A G 1: 74,635,047 (GRCm39) V135A possibly damaging Het
Rph3a A G 5: 121,118,212 (GRCm39) probably benign Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Senp6 G A 9: 80,051,124 (GRCm39) A1134T probably benign Het
Slc1a6 G T 10: 78,650,448 (GRCm39) *562L probably null Het
Slc26a6 G A 9: 108,734,236 (GRCm39) V206I probably benign Het
Slc45a3 A G 1: 131,905,637 (GRCm39) E206G probably damaging Het
Smc1a T A X: 150,816,695 (GRCm39) Y516N probably damaging Het
Smpd3 A G 8: 106,984,039 (GRCm39) V560A probably benign Het
Spata31g1 A G 4: 42,972,946 (GRCm39) K760E probably benign Het
Ssc4d T C 5: 135,994,578 (GRCm39) T51A possibly damaging Het
Suco A G 1: 161,676,220 (GRCm39) I386T probably damaging Het
Tecta A T 9: 42,289,290 (GRCm39) M425K possibly damaging Het
Tmprss11e G A 5: 86,869,266 (GRCm39) R96W probably damaging Het
Trim63 T C 4: 134,050,308 (GRCm39) probably benign Het
Trpv1 A G 11: 73,145,675 (GRCm39) K403R probably damaging Het
Ttc39d A G 17: 80,524,982 (GRCm39) Y547C probably damaging Het
Unc79 C T 12: 102,957,684 (GRCm39) T33I probably damaging Het
Usp47 G A 7: 111,681,743 (GRCm39) S518N probably damaging Het
Vmn2r22 T A 6: 123,614,594 (GRCm39) D332V probably damaging Het
Vmn2r55 A G 7: 12,385,832 (GRCm39) L716P probably damaging Het
Zfp558 T C 9: 18,367,924 (GRCm39) N288S 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
IGL03343:Asl APN 5 130,040,908 (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
Predicted Primers PCR Primer
(F):5'- TTTTCTTCTGGGGCATCAAGC -3'
(R):5'- ATGGATGCCACCAGTGAGAG -3'

Sequencing Primer
(F):5'- ATCAAGCTGCTTCCGGTG -3'
(R):5'- AATTTGTGACCAGCCTGAGC -3'
Posted On 2015-02-05