Incidental Mutation 'R6873:Adss1'
ID 536272
Institutional Source Beutler Lab
Gene Symbol Adss1
Ensembl Gene ENSMUSG00000011148
Gene Name adenylosuccinate synthase 1
Synonyms Adss, Adssl1
MMRRC Submission 044970-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.226) question?
Stock # R6873 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 112586481-112607789 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 112599138 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 123 (D123G)
Ref Sequence ENSEMBL: ENSMUSP00000136572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021726] [ENSMUST00000180015]
AlphaFold P28650
Predicted Effect probably benign
Transcript: ENSMUST00000021726
AA Change: D123G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021726
Gene: ENSMUSG00000011148
AA Change: D123G

DomainStartEndE-ValueType
Adenylsucc_synt 33 455 5.9e-259 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000180015
AA Change: D123G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000136572
Gene: ENSMUSG00000011148
AA Change: D123G

DomainStartEndE-ValueType
Adenylsucc_synt 33 478 2.17e-248 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 98% (48/49)
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 adenylosuccinate synthase family of proteins. The encoded muscle-specific enzyme plays a role in the purine nucleotide cycle by catalyzing the first step in the conversion of inosine monophosphate (IMP) to adenosine monophosphate (AMP). Mutations in this gene may cause adolescent onset distal myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl4 A G 4: 111,423,856 (GRCm39) D294G possibly damaging Het
Apob G T 12: 8,065,995 (GRCm39) M4288I probably benign Het
Arnt T G 3: 95,381,886 (GRCm39) F160V probably damaging Het
Atp5f1a C T 18: 77,863,540 (GRCm39) R42* probably null Het
Bhlha15 A G 5: 144,128,203 (GRCm39) D105G probably benign Het
C6 A G 15: 4,820,461 (GRCm39) T491A probably benign Het
Calhm5 G C 10: 33,968,448 (GRCm39) R202G probably damaging Het
Caskin1 A G 17: 24,723,153 (GRCm39) E647G probably benign Het
Col11a2 A G 17: 34,283,993 (GRCm39) D1579G unknown Het
Dctn2 T G 10: 127,112,105 (GRCm39) probably null Het
Eqtn A G 4: 94,815,258 (GRCm39) V80A probably damaging Het
Etl4 A G 2: 20,802,803 (GRCm39) probably null Het
Fbxo10 T C 4: 45,041,787 (GRCm39) D814G possibly damaging Het
Galnt10 A G 11: 57,672,045 (GRCm39) D445G probably damaging Het
Gm6309 T C 5: 146,104,998 (GRCm39) D305G probably damaging Het
Grap2 G A 15: 80,527,874 (GRCm39) V107I probably damaging Het
Igsf10 C T 3: 59,235,865 (GRCm39) A1439T probably benign Het
Krt5 G A 15: 101,621,312 (GRCm39) probably benign Het
Lancl2 A G 6: 57,699,642 (GRCm39) I152M possibly damaging Het
Mast3 A T 8: 71,239,236 (GRCm39) C447* probably null Het
Mef2b A G 8: 70,618,957 (GRCm39) I180V probably benign Het
Mon1b T C 8: 114,368,697 (GRCm39) Y533H probably damaging Het
Mst1r A T 9: 107,788,843 (GRCm39) H454L possibly damaging Het
Nhlrc4 G A 17: 26,162,496 (GRCm39) Q84* probably null Het
Nlk A G 11: 78,481,774 (GRCm39) I229T possibly damaging Het
Nlrp6 T C 7: 140,503,433 (GRCm39) I513T probably benign Het
Or1j12 A T 2: 36,343,508 (GRCm39) I304F probably benign Het
Or2n1 A T 17: 38,486,259 (GRCm39) M95L probably benign Het
Or4c108 T C 2: 88,803,768 (GRCm39) T156A probably benign Het
Panx1 A T 9: 14,921,513 (GRCm39) Y121N probably damaging Het
Pfkfb4 A C 9: 108,839,403 (GRCm39) probably null Het
Setbp1 A G 18: 78,902,774 (GRCm39) S298P probably benign Het
Sh3bgr A C 16: 96,007,691 (GRCm39) K19Q probably damaging Het
Slc35c2 T C 2: 165,124,729 (GRCm39) D82G possibly damaging Het
Spata13 T A 14: 60,929,406 (GRCm39) D321E probably benign Het
Stab2 A G 10: 86,697,230 (GRCm39) probably null Het
Sulf2 T A 2: 165,931,195 (GRCm39) I271F probably damaging Het
Sult2a5 A T 7: 13,359,311 (GRCm39) I96L probably benign Het
Sv2b A G 7: 74,855,954 (GRCm39) F112S probably damaging Het
Sycp1 G A 3: 102,748,296 (GRCm39) T832I probably benign Het
Tm9sf2 A T 14: 122,382,525 (GRCm39) E179V probably damaging Het
Tmem209 A G 6: 30,508,455 (GRCm39) I66T probably damaging Het
Tspan10 T C 11: 120,335,549 (GRCm39) W220R probably damaging Het
Ttc39b G C 4: 83,164,513 (GRCm39) N266K probably damaging Het
Uri1 A T 7: 37,664,764 (GRCm39) D309E probably benign Het
Zfhx3 C T 8: 109,527,273 (GRCm39) R1057W probably damaging Het
Other mutations in Adss1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01302:Adss1 APN 12 112,601,170 (GRCm39) splice site probably benign
IGL03105:Adss1 APN 12 112,599,155 (GRCm39) missense probably benign 0.00
barty UTSW 12 112,600,623 (GRCm39) missense probably damaging 1.00
lannister UTSW 12 112,601,147 (GRCm39) missense probably damaging 1.00
R0179:Adss1 UTSW 12 112,598,703 (GRCm39) missense probably benign 0.11
R1722:Adss1 UTSW 12 112,602,915 (GRCm39) missense possibly damaging 0.93
R1911:Adss1 UTSW 12 112,599,443 (GRCm39) missense probably benign
R2877:Adss1 UTSW 12 112,600,623 (GRCm39) missense probably damaging 1.00
R4829:Adss1 UTSW 12 112,601,147 (GRCm39) missense probably damaging 1.00
R5155:Adss1 UTSW 12 112,604,642 (GRCm39) missense probably damaging 1.00
R6225:Adss1 UTSW 12 112,600,837 (GRCm39) missense probably damaging 0.96
R6247:Adss1 UTSW 12 112,594,790 (GRCm39) missense probably damaging 1.00
R7012:Adss1 UTSW 12 112,600,670 (GRCm39) missense probably benign 0.01
R7449:Adss1 UTSW 12 112,600,585 (GRCm39) missense probably damaging 1.00
R7662:Adss1 UTSW 12 112,606,172 (GRCm39) missense probably damaging 0.98
R7976:Adss1 UTSW 12 112,602,831 (GRCm39) missense probably benign 0.00
R9301:Adss1 UTSW 12 112,602,882 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCGAAAGGAGCTCTAGCATG -3'
(R):5'- TGACCCCAGCTTTGACCTAG -3'

Sequencing Primer
(F):5'- AAGGAGCTCTAGCATGGGTGTG -3'
(R):5'- TGACCTAGCTGCTACCCTGAG -3'
Posted On 2018-10-18