Incidental Mutation 'R5532:Adsl'
ID 436244
Institutional Source Beutler Lab
Gene Symbol Adsl
Ensembl Gene ENSMUSG00000022407
Gene Name adenylosuccinate lyase
Synonyms
MMRRC Submission 043090-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5532 (G1)
Quality Score 199
Status Not validated
Chromosome 15
Chromosomal Location 80832691-80855147 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 80848110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Alanine at position 118 (P118A)
Ref Sequence ENSEMBL: ENSMUSP00000146546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023043] [ENSMUST00000164806] [ENSMUST00000166711] [ENSMUST00000168756] [ENSMUST00000169238] [ENSMUST00000207170] [ENSMUST00000200201]
AlphaFold P54822
Predicted Effect probably damaging
Transcript: ENSMUST00000023043
AA Change: P298A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023043
Gene: ENSMUSG00000022407
AA Change: P298A

DomainStartEndE-ValueType
Pfam:Lyase_1 49 313 4.4e-29 PFAM
ADSL_C 377 461 5.65e-28 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163575
Predicted Effect probably damaging
Transcript: ENSMUST00000164806
AA Change: P298A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131998
Gene: ENSMUSG00000022407
AA Change: P298A

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

DomainStartEndE-ValueType
PDB:2VD6|D 1 134 3e-87 PDB
SCOP:d1c3ca_ 20 134 9e-25 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000168756
AA Change: P283A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127593
Gene: ENSMUSG00000022407
AA Change: P283A

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

DomainStartEndE-ValueType
PDB:2VD6|D 1 134 3e-87 PDB
SCOP:d1c3ca_ 20 134 9e-25 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000207170
AA Change: P118A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000199284
Predicted Effect probably benign
Transcript: ENSMUST00000200201
SMART Domains Protein: ENSMUSP00000143188
Gene: ENSMUSG00000022407

DomainStartEndE-ValueType
PDB:2VD6|D 1 119 6e-77 PDB
SCOP:d1c3ca_ 20 119 4e-21 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T A 6: 128,530,293 (GRCm39) probably null Het
Ano6 C T 15: 95,860,122 (GRCm39) P748L probably damaging Het
Arhgap10 A T 8: 78,146,701 (GRCm39) N234K probably benign Het
Arhgap18 T A 10: 26,722,104 (GRCm39) I25K possibly damaging Het
AW551984 T C 9: 39,508,481 (GRCm39) Y345C probably damaging Het
Ccdc146 A G 5: 21,510,329 (GRCm39) V561A probably benign Het
Cenpv G A 11: 62,418,398 (GRCm39) T185M probably damaging Het
Fat2 T A 11: 55,153,163 (GRCm39) D3683V probably damaging Het
Galns T C 8: 123,311,765 (GRCm39) D415G possibly damaging Het
Gatad2a G A 8: 70,369,070 (GRCm39) T259M probably damaging Het
Gja8 T C 3: 96,827,648 (GRCm39) S5G probably benign Het
Ifi209 T C 1: 173,466,542 (GRCm39) S125P probably damaging Het
Iigp1c A G 18: 60,379,142 (GRCm39) I226V probably benign Het
Il12rb2 G A 6: 67,269,246 (GRCm39) R856W probably damaging Het
Kcnq3 A T 15: 65,869,622 (GRCm39) Y605* probably null Het
Klk1b16 T C 7: 43,790,950 (GRCm39) S251P probably benign Het
Map2 A G 1: 66,453,779 (GRCm39) N890D probably damaging Het
Map4 T A 9: 109,863,746 (GRCm39) S324T probably benign Het
Mmp28 T C 11: 83,333,684 (GRCm39) D419G probably damaging Het
Mtnr1b A G 9: 15,774,210 (GRCm39) L283P probably benign Het
Ndufb7 T A 8: 84,298,063 (GRCm39) Y95N probably damaging Het
Nfrkb C T 9: 31,309,075 (GRCm39) R280W probably damaging Het
Npc1l1 A G 11: 6,174,245 (GRCm39) Y687H probably damaging Het
Or6f1 A C 7: 85,970,879 (GRCm39) F94V possibly damaging Het
Or8b40 C T 9: 38,027,923 (GRCm39) T277I probably benign Het
Or8g51 T C 9: 38,608,943 (GRCm39) T240A probably damaging Het
Or8h9 T A 2: 86,788,924 (GRCm39) R293* probably null Het
Pabpc4l T C 3: 46,401,044 (GRCm39) D200G probably benign Het
Plekhg6 T C 6: 125,349,514 (GRCm39) E361G possibly damaging Het
Pramel31 A T 4: 144,090,061 (GRCm39) D367V probably damaging Het
Rictor A G 15: 6,819,046 (GRCm39) Y1423C probably damaging Het
Rsf1 G A 7: 97,329,902 (GRCm39) D1143N probably damaging Het
Spsb4 C T 9: 96,877,627 (GRCm39) probably null Het
Strada G T 11: 106,061,843 (GRCm39) A136E probably damaging Het
Syce2 A T 8: 85,610,131 (GRCm39) Q73L probably damaging Het
Teddm2 A T 1: 153,726,130 (GRCm39) V195D probably benign Het
Tex36 A T 7: 133,203,712 (GRCm39) N12K probably benign Het
Ubtf A G 11: 102,199,785 (GRCm39) S484P probably benign Het
Ufd1 T G 16: 18,636,680 (GRCm39) L66R probably damaging Het
Vmn2r74 C T 7: 85,601,197 (GRCm39) A814T probably benign Het
Vmn2r98 T C 17: 19,287,645 (GRCm39) S493P possibly damaging Het
Xrcc1 T A 7: 24,267,353 (GRCm39) probably null Het
Zfp277 A C 12: 40,385,308 (GRCm39) C305G probably damaging Het
Zfp998 A T 13: 66,579,740 (GRCm39) C248S 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
IGL03009:Adsl APN 15 80,836,444 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- CAGATTGGTGAGTAGAGGCTCG -3'
(R):5'- CCAAGCTTCTTTGAGGGTAAGG -3'

Sequencing Primer
(F):5'- TCGGGAGCAGCATAACAC -3'
(R):5'- CTTCTTTGAGGGTAAGGAAGCAGAC -3'
Posted On 2016-10-24