Incidental Mutation 'IGL03009:Adsl'
ID 407704
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adsl
Ensembl Gene ENSMUSG00000022407
Gene Name adenylosuccinate lyase
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03009
Quality Score
Status
Chromosome 15
Chromosomal Location 80832691-80855147 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 80836444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 67 (S67*)
Ref Sequence ENSEMBL: ENSMUSP00000143188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023043] [ENSMUST00000164806] [ENSMUST00000166711] [ENSMUST00000168756] [ENSMUST00000169238] [ENSMUST00000200201] [ENSMUST00000170354] [ENSMUST00000207170]
AlphaFold P54822
Predicted Effect probably null
Transcript: ENSMUST00000023043
AA Change: S67*
SMART Domains Protein: ENSMUSP00000023043
Gene: ENSMUSG00000022407
AA Change: S67*

DomainStartEndE-ValueType
Pfam:Lyase_1 49 313 4.4e-29 PFAM
ADSL_C 377 461 5.65e-28 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164371
Predicted Effect probably null
Transcript: ENSMUST00000164806
AA Change: S67*
SMART Domains Protein: ENSMUSP00000131998
Gene: ENSMUSG00000022407
AA Change: S67*

DomainStartEndE-ValueType
Pfam:Lyase_1 47 313 8.4e-29 PFAM
Blast:ADSL_C 377 416 2e-6 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000166711
AA Change: S67*
SMART Domains Protein: ENSMUSP00000129601
Gene: ENSMUSG00000022407
AA Change: S67*

DomainStartEndE-ValueType
PDB:2VD6|D 1 134 3e-87 PDB
SCOP:d1c3ca_ 20 134 9e-25 SMART
Predicted Effect probably null
Transcript: ENSMUST00000168756
AA Change: S67*
SMART Domains Protein: ENSMUSP00000127593
Gene: ENSMUSG00000022407
AA Change: S67*

DomainStartEndE-ValueType
Pfam:Lyase_1 115 298 3.9e-25 PFAM
ADSL_C 362 446 5.65e-28 SMART
Predicted Effect probably null
Transcript: ENSMUST00000169238
AA Change: S67*
SMART Domains Protein: ENSMUSP00000132423
Gene: ENSMUSG00000022407
AA Change: S67*

DomainStartEndE-ValueType
PDB:2VD6|D 1 134 3e-87 PDB
SCOP:d1c3ca_ 20 134 9e-25 SMART
Predicted Effect probably null
Transcript: ENSMUST00000200201
AA Change: S67*
SMART Domains Protein: ENSMUSP00000143188
Gene: ENSMUSG00000022407
AA Change: S67*

DomainStartEndE-ValueType
PDB:2VD6|D 1 119 6e-77 PDB
SCOP:d1c3ca_ 20 119 4e-21 SMART
Predicted Effect probably null
Transcript: ENSMUST00000170354
AA Change: S17*
Predicted Effect probably benign
Transcript: ENSMUST00000207170
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170777
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198302
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein that is involved in adenosine monophosphate (AMP) biosynthesis and maintaining AMP levels in the muscle. The encoded enzyme catalyzes the release of fumarate during AMP biosynthesis by cleaving the substrates succinylaminoimidazole carboxamide (SAICA) ribotide to give aminoimidazole carboxamide (AICA) ribotide, and adenylosuccinate to give adenylate. In humans, this gene is associated with adenylosuccinate deficiency, a rare autosomal disorder resulting in a spectrum of neurological symptoms. A pseudogene associated with this gene is located on the X chromosome. [provided by RefSeq, Jan 2013]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arrdc4 A G 7: 68,389,241 (GRCm39) V411A probably damaging Het
Cnnm2 A G 19: 46,865,794 (GRCm39) Y794C probably damaging Het
Flt4 G T 11: 49,517,951 (GRCm39) K330N probably benign Het
Foxs1 T C 2: 152,774,849 (GRCm39) H68R probably damaging Het
Gm21969 C T 4: 139,334,965 (GRCm39) S333L probably damaging Het
Gm7008 T A 12: 40,273,546 (GRCm39) probably benign Het
Gmppa A G 1: 75,416,014 (GRCm39) Y137C probably damaging Het
Grwd1 A G 7: 45,476,561 (GRCm39) probably benign Het
Kdm5a C T 6: 120,407,047 (GRCm39) R1421W probably damaging Het
Myo5b A G 18: 74,894,039 (GRCm39) T1749A possibly damaging Het
Neb A G 2: 52,069,468 (GRCm39) probably benign Het
Ntng1 T C 3: 109,842,018 (GRCm39) K252E possibly damaging Het
Nup133 A G 8: 124,660,239 (GRCm39) I353T possibly damaging Het
Or51ab3 C A 7: 103,201,734 (GRCm39) C247* probably null Het
Osbpl11 T C 16: 33,062,100 (GRCm39) probably benign Het
Pcsk9 C T 4: 106,311,542 (GRCm39) G230S probably damaging Het
Polr1b A G 2: 128,967,988 (GRCm39) N1127S probably damaging Het
Rasgrf1 A T 9: 89,873,756 (GRCm39) K688N possibly damaging Het
Rhot1 A G 11: 80,111,080 (GRCm39) probably null Het
Rims2 A T 15: 39,430,393 (GRCm39) Q1159L possibly damaging Het
Ros1 T C 10: 52,022,003 (GRCm39) I594V probably benign Het
Slc43a2 G A 11: 75,463,202 (GRCm39) C536Y probably benign Het
Stip1 A T 19: 6,998,489 (GRCm39) V537E probably damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Vav1 A T 17: 57,603,582 (GRCm39) T94S probably benign Het
Zfr A T 15: 12,162,321 (GRCm39) I824F probably damaging Het
Other mutations in Adsl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01637:Adsl APN 15 80,832,901 (GRCm39) missense probably null 0.24
IGL02249:Adsl APN 15 80,844,676 (GRCm39) missense probably benign 0.26
R0046:Adsl UTSW 15 80,846,989 (GRCm39) critical splice donor site probably null
R0046:Adsl UTSW 15 80,846,989 (GRCm39) critical splice donor site probably null
R0194:Adsl UTSW 15 80,845,561 (GRCm39) missense possibly damaging 0.91
R0575:Adsl UTSW 15 80,847,886 (GRCm39) missense probably damaging 1.00
R1111:Adsl UTSW 15 80,851,861 (GRCm39) missense probably damaging 1.00
R1606:Adsl UTSW 15 80,836,425 (GRCm39) nonsense probably null
R1822:Adsl UTSW 15 80,846,943 (GRCm39) nonsense probably null
R2152:Adsl UTSW 15 80,851,863 (GRCm39) missense probably damaging 1.00
R2284:Adsl UTSW 15 80,848,096 (GRCm39) missense probably damaging 0.99
R4008:Adsl UTSW 15 80,850,357 (GRCm39) missense probably benign 0.05
R4010:Adsl UTSW 15 80,850,357 (GRCm39) missense probably benign 0.05
R4011:Adsl UTSW 15 80,850,357 (GRCm39) missense probably benign 0.05
R4202:Adsl UTSW 15 80,836,417 (GRCm39) missense probably damaging 0.98
R4587:Adsl UTSW 15 80,851,968 (GRCm39) critical splice donor site probably null
R5053:Adsl UTSW 15 80,844,651 (GRCm39) missense probably damaging 1.00
R5086:Adsl UTSW 15 80,847,901 (GRCm39) missense probably damaging 0.96
R5123:Adsl UTSW 15 80,836,495 (GRCm39) splice site probably null
R5187:Adsl UTSW 15 80,833,106 (GRCm39) intron probably benign
R5416:Adsl UTSW 15 80,836,384 (GRCm39) splice site probably null
R5532:Adsl UTSW 15 80,848,110 (GRCm39) missense probably damaging 1.00
R5898:Adsl UTSW 15 80,845,554 (GRCm39) splice site probably null
R7401:Adsl UTSW 15 80,846,983 (GRCm39) missense probably damaging 1.00
R8544:Adsl UTSW 15 80,832,734 (GRCm39) start gained probably benign
R9712:Adsl UTSW 15 80,839,840 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02