Incidental Mutation 'R5898:Adsl'
ID 457689
Institutional Source Beutler Lab
Gene Symbol Adsl
Ensembl Gene ENSMUSG00000022407
Gene Name adenylosuccinate lyase
Synonyms
MMRRC Submission 044097-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5898 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 80832691-80855147 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 80845554 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023043] [ENSMUST00000023043] [ENSMUST00000164806] [ENSMUST00000164806] [ENSMUST00000166711] [ENSMUST00000168756] [ENSMUST00000168756] [ENSMUST00000169238] [ENSMUST00000200201] [ENSMUST00000207170] [ENSMUST00000207170]
AlphaFold P54822
Predicted Effect probably null
Transcript: ENSMUST00000023043
SMART Domains Protein: ENSMUSP00000023043
Gene: ENSMUSG00000022407

DomainStartEndE-ValueType
Pfam:Lyase_1 49 313 4.4e-29 PFAM
ADSL_C 377 461 5.65e-28 SMART
Predicted Effect probably null
Transcript: ENSMUST00000023043
SMART Domains Protein: ENSMUSP00000023043
Gene: ENSMUSG00000022407

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 null
Transcript: ENSMUST00000164806
SMART Domains Protein: ENSMUSP00000131998
Gene: ENSMUSG00000022407

DomainStartEndE-ValueType
Pfam:Lyase_1 47 313 8.4e-29 PFAM
Blast:ADSL_C 377 416 2e-6 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000164806
SMART Domains Protein: ENSMUSP00000131998
Gene: ENSMUSG00000022407

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 null
Transcript: ENSMUST00000168756
SMART Domains Protein: ENSMUSP00000127593
Gene: ENSMUSG00000022407

DomainStartEndE-ValueType
Pfam:Lyase_1 115 298 3.9e-25 PFAM
ADSL_C 362 446 5.65e-28 SMART
Predicted Effect probably null
Transcript: ENSMUST00000168756
SMART Domains Protein: ENSMUSP00000127593
Gene: ENSMUSG00000022407

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 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
Predicted Effect probably null
Transcript: ENSMUST00000207170
Predicted Effect probably null
Transcript: ENSMUST00000207170
Predicted Effect probably benign
Transcript: ENSMUST00000199284
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 96% (86/90)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik G T 10: 100,448,762 (GRCm39) R158L possibly damaging Het
1700017N19Rik G A 10: 100,451,070 (GRCm39) M179I probably benign Het
Abhd12 T C 2: 150,681,698 (GRCm39) I231V possibly damaging Het
Ahnak C A 19: 8,991,131 (GRCm39) N4138K possibly damaging Het
Ahnak T C 19: 8,995,575 (GRCm39) S5620P probably damaging Het
Akap13 C T 7: 75,378,894 (GRCm39) T2145I probably damaging Het
Alpk2 T A 18: 65,440,694 (GRCm39) Q700L probably damaging Het
Apobec1 T C 6: 122,557,732 (GRCm39) Y159C probably damaging Het
Atg9a T C 1: 75,162,916 (GRCm39) T395A probably damaging Het
Atp6v1f A G 6: 29,467,957 (GRCm39) I48V probably benign Het
BC051665 A C 13: 60,930,518 (GRCm39) V278G probably damaging Het
Bicd1 A T 6: 149,415,201 (GRCm39) H638L probably damaging Het
Cacna2d4 A G 6: 119,251,192 (GRCm39) Y460C probably damaging Het
Ccdc157 C A 11: 4,094,538 (GRCm39) R496L probably benign Het
Cdcp3 T G 7: 130,843,696 (GRCm39) probably null Het
Cep44 C G 8: 56,994,056 (GRCm39) V174L probably damaging Het
Clca3a1 G T 3: 144,722,522 (GRCm39) F283L possibly damaging Het
Csk T C 9: 57,537,585 (GRCm39) T110A probably benign Het
Cspg4 T A 9: 56,792,506 (GRCm39) probably null Het
Cutc A G 19: 43,748,468 (GRCm39) I124V probably benign Het
Cyp2d9 A G 15: 82,339,725 (GRCm39) T104A probably benign Het
Cyp2j9 G T 4: 96,465,951 (GRCm39) T294K probably benign Het
D630003M21Rik T A 2: 158,046,577 (GRCm39) probably null Het
Dcaf15 G T 8: 84,825,081 (GRCm39) F450L probably damaging Het
Ddhd1 A T 14: 45,840,125 (GRCm39) I723K probably damaging Het
Dnah17 C T 11: 118,005,039 (GRCm39) A782T probably benign Het
Dnah3 T C 7: 119,677,724 (GRCm39) D399G probably benign Het
Dync2h1 T C 9: 7,148,717 (GRCm39) N909S probably benign Het
Erbin A G 13: 103,975,813 (GRCm39) probably null Het
Fanci G A 7: 79,083,069 (GRCm39) V682I probably benign Het
Fap A T 2: 62,403,847 (GRCm39) F9L probably benign Het
Fat3 T C 9: 15,849,757 (GRCm39) I3882V probably benign Het
Fkbp15 A T 4: 62,244,294 (GRCm39) probably null Het
Fsd2 T C 7: 81,186,975 (GRCm39) Y601C probably damaging Het
Gm5900 T C 7: 104,599,468 (GRCm39) noncoding transcript Het
Gramd4 G T 15: 85,984,985 (GRCm39) G82V probably damaging Het
Hc C T 2: 34,887,449 (GRCm39) V1352I probably benign Het
Hsph1 A T 5: 149,548,623 (GRCm39) N466K probably damaging Het
Ice2 T A 9: 69,315,544 (GRCm39) D133E probably benign Het
Ifi213 T C 1: 173,396,545 (GRCm39) M510V probably benign Het
Itpkb T G 1: 180,248,880 (GRCm39) L861R probably damaging Het
Kbtbd3 T A 9: 4,330,476 (GRCm39) D283E probably damaging Het
Man2a1 A G 17: 64,932,375 (GRCm39) K154R probably benign Het
Masp1 T A 16: 23,310,677 (GRCm39) I252F probably damaging Het
Megf11 G T 9: 64,593,246 (GRCm39) C586F probably damaging Het
Myh2 C A 11: 67,083,545 (GRCm39) A1476E possibly damaging Het
Myo18b A T 5: 112,950,196 (GRCm39) probably null Het
Naip6 A T 13: 100,435,829 (GRCm39) V898E possibly damaging Het
Nav1 T C 1: 135,512,884 (GRCm39) M59V probably benign Het
Nlrp3 A T 11: 59,437,678 (GRCm39) Y119F probably benign Het
Oxa1l T A 14: 54,600,758 (GRCm39) I77N possibly damaging Het
Pcdhb8 T A 18: 37,490,537 (GRCm39) D738E possibly damaging Het
Pdia5 A T 16: 35,243,335 (GRCm39) W269R probably damaging Het
Peak1 T A 9: 56,114,622 (GRCm39) T1440S probably benign Het
Piezo1 A G 8: 123,214,682 (GRCm39) V1547A probably benign Het
Pkp1 T C 1: 135,810,259 (GRCm39) Y437C probably damaging Het
Pla2r1 T C 2: 60,253,104 (GRCm39) D1329G probably damaging Het
Ppip5k2 T C 1: 97,671,887 (GRCm39) probably benign Het
Prrg4 C T 2: 104,675,378 (GRCm39) S75N probably benign Het
Psmb9 T A 17: 34,401,266 (GRCm39) I198F probably damaging Het
Rcbtb2 T A 14: 73,399,405 (GRCm39) L23* probably null Het
Sbno1 A T 5: 124,524,854 (GRCm39) probably benign Het
Scn3a T C 2: 65,345,039 (GRCm39) E483G probably damaging Het
Sdccag8 T A 1: 176,652,388 (GRCm39) D46E probably benign Het
Selenov A G 7: 27,987,579 (GRCm39) F293L probably damaging Het
Septin2 A C 1: 93,407,023 (GRCm39) D20A probably benign Het
Shc1 T A 3: 89,334,274 (GRCm39) Y313* probably null Het
Siglec1 T A 2: 130,915,553 (GRCm39) Y1346F probably damaging Het
Slc22a5 T A 11: 53,764,559 (GRCm39) I296F probably damaging Het
Slc9c1 A G 16: 45,365,123 (GRCm39) N152S probably damaging Het
Smoc1 C T 12: 81,151,531 (GRCm39) R83* probably null Het
Ssx2ip A G 3: 146,133,586 (GRCm39) D227G possibly damaging Het
Tbrg4 T C 11: 6,567,372 (GRCm39) D576G probably damaging Het
Tbx20 T A 9: 24,670,155 (GRCm39) Y226F probably damaging Het
Trav10d G T 14: 53,048,929 (GRCm39) A107S probably damaging Het
Trim60 A T 8: 65,453,016 (GRCm39) L411* probably null Het
Ttbk2 A T 2: 120,575,521 (GRCm39) V1083D probably benign Het
Unc93a T A 17: 13,344,464 (GRCm39) Q26L probably damaging Het
Usp14 T A 18: 10,022,819 (GRCm39) N65I possibly damaging Het
Vip A T 10: 5,593,988 (GRCm39) S114C probably damaging Het
Vmn1r237 A T 17: 21,534,813 (GRCm39) I179F probably damaging Het
Wdr47 T A 3: 108,545,201 (GRCm39) probably null Het
Zfp975 A T 7: 42,311,963 (GRCm39) C217S 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
R5532:Adsl UTSW 15 80,848,110 (GRCm39) missense probably damaging 1.00
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'- GAACACACTTAGACTGAGCACTTAC -3'
(R):5'- GGCATGCACTCAAGTAAAATACTC -3'

Sequencing Primer
(F):5'- TGAACCAGGCTTTTGAACACCTG -3'
(R):5'- TCAAATATGCACACACAAAAAGAAG -3'
Posted On 2017-02-15