Incidental Mutation 'R4202:Adsl'
ID 318806
Institutional Source Beutler Lab
Gene Symbol Adsl
Ensembl Gene ENSMUSG00000022407
Gene Name adenylosuccinate lyase
Synonyms
MMRRC Submission 041032-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4202 (G1)
Quality Score 189
Status Validated
Chromosome 15
Chromosomal Location 80832691-80855147 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 80836417 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 58 (T58I)
Ref Sequence ENSEMBL: ENSMUSP00000132423 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023043] [ENSMUST00000164806] [ENSMUST00000166711] [ENSMUST00000168756] [ENSMUST00000169238] [ENSMUST00000170354] [ENSMUST00000200201] [ENSMUST00000207170]
AlphaFold P54822
Predicted Effect possibly damaging
Transcript: ENSMUST00000023043
AA Change: T58I

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000023043
Gene: ENSMUSG00000022407
AA Change: T58I

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 possibly damaging
Transcript: ENSMUST00000164806
AA Change: T58I

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131998
Gene: ENSMUSG00000022407
AA Change: T58I

DomainStartEndE-ValueType
Pfam:Lyase_1 47 313 8.4e-29 PFAM
Blast:ADSL_C 377 416 2e-6 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000166711
AA Change: T58I

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129601
Gene: ENSMUSG00000022407
AA Change: T58I

DomainStartEndE-ValueType
PDB:2VD6|D 1 134 3e-87 PDB
SCOP:d1c3ca_ 20 134 9e-25 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000168756
AA Change: T58I

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000127593
Gene: ENSMUSG00000022407
AA Change: T58I

DomainStartEndE-ValueType
Pfam:Lyase_1 115 298 3.9e-25 PFAM
ADSL_C 362 446 5.65e-28 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000169238
AA Change: T58I

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000132423
Gene: ENSMUSG00000022407
AA Change: T58I

DomainStartEndE-ValueType
PDB:2VD6|D 1 134 3e-87 PDB
SCOP:d1c3ca_ 20 134 9e-25 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000170354
AA Change: T8I

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000200201
AA Change: T58I

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000143188
Gene: ENSMUSG00000022407
AA Change: T58I

DomainStartEndE-ValueType
PDB:2VD6|D 1 119 6e-77 PDB
SCOP:d1c3ca_ 20 119 4e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198302
Predicted Effect probably benign
Transcript: ENSMUST00000207170
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170777
Meta Mutation Damage Score 0.3237 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 92% (33/36)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano7 A G 1: 93,308,200 (GRCm39) D77G probably benign Het
Ap2b1 T A 11: 83,226,430 (GRCm39) probably null Het
Bclaf3 T A X: 158,336,829 (GRCm39) S419T probably damaging Het
Bysl A G 17: 47,915,251 (GRCm39) S166P probably benign Het
Cd101 A C 3: 100,926,001 (GRCm39) D239E probably damaging Het
Cdc42bpb G A 12: 111,260,573 (GRCm39) P1702S probably benign Het
Cfap65 G T 1: 74,959,701 (GRCm39) F816L probably damaging Het
Cnot6 T C 11: 49,593,463 (GRCm39) Y6C probably damaging Het
Csrp1 T G 1: 135,673,065 (GRCm39) C61G probably damaging Het
Gmeb2 A G 2: 180,895,766 (GRCm39) V468A possibly damaging Het
Gucy2g A G 19: 55,218,201 (GRCm39) S416P possibly damaging Het
Hormad1 G A 3: 95,492,509 (GRCm39) R362H probably benign Het
Lancl2 T A 6: 57,689,977 (GRCm39) V61D probably benign Het
Lta4h A G 10: 93,306,669 (GRCm39) D287G probably damaging Het
Maml1 A T 11: 50,148,740 (GRCm39) L1000Q probably damaging Het
Or6c206 T C 10: 129,097,646 (GRCm39) V272A probably benign Het
Or7a42 T C 10: 78,791,129 (GRCm39) V30A probably benign Het
Osbpl9 G T 4: 109,029,437 (GRCm39) probably benign Het
Oser1 T C 2: 163,253,375 (GRCm39) T45A probably benign Het
Pip4p1 A G 14: 51,168,112 (GRCm39) S41P probably damaging Het
Ppfibp1 C A 6: 146,931,079 (GRCm39) S878R probably damaging Het
Prss43 T A 9: 110,656,529 (GRCm39) V72D probably benign Het
Sdhb T A 4: 140,706,379 (GRCm39) M272K possibly damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Stx17 T A 4: 48,158,870 (GRCm39) D83E probably damaging Het
Tas2r138 T C 6: 40,589,410 (GRCm39) M279V possibly damaging Het
Tsku C T 7: 98,002,205 (GRCm39) R42H probably damaging Het
Tyr A G 7: 87,078,276 (GRCm39) L528P possibly damaging Het
Vmn2r87 T C 10: 130,308,448 (GRCm39) I597V probably benign Het
Wnt5b T C 6: 119,417,272 (GRCm39) N198D 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
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
Predicted Primers PCR Primer
(F):5'- GAAAATTCCTCCATGCTTTTGAAC -3'
(R):5'- CTCCGACATAGCAGGAGGTG -3'

Sequencing Primer
(F):5'- TACAGATGGTTGTGAGCCACC -3'
(R):5'- TGGCGCCCAGATGAATAATGC -3'
Posted On 2015-06-10