Incidental Mutation 'R5155:Adss1'
ID 396685
Institutional Source Beutler Lab
Gene Symbol Adss1
Ensembl Gene ENSMUSG00000011148
Gene Name adenylosuccinate synthase 1
Synonyms Adss, Adssl1
MMRRC Submission 042737-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.226) question?
Stock # R5155 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 112586481-112607789 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 112604642 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 366 (I366T)
Ref Sequence ENSEMBL: ENSMUSP00000021726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021726] [ENSMUST00000180015]
AlphaFold P28650
PDB Structure IMP Complex of the Recombinant Mouse-Muscle Adenylosuccinate Synthetase [X-RAY DIFFRACTION]
Recombinant Mouse-Muscle Adenylosuccinate Synthetase [X-RAY DIFFRACTION]
Crystal structure of the recombinant mouse-muscle adenylosuccinate synthetase complexed with 6-phosphoryl-IMP, GDP and Mg [X-RAY DIFFRACTION]
Crystal Structure of the Recombinant Mouse-Muscle Adenylosuccinate Synthetase Complexed with 6-phosphoryl-IMP, GDP and Hadacidin [X-RAY DIFFRACTION]
Crystal Structure of the Mouse-Muscle Adenylosuccinate Synthetase Ligated with GTP [X-RAY DIFFRACTION]
Structure of the Recombinant Mouse-Muscle Adenylosuccinate Synthetase Complexed with SAMP, GDP, SO4(2-), and Mg(2+) [X-RAY DIFFRACTION]
Structure of the Recombinant Mouse-Muscle Adenylosuccinate Synthetase Complexed with AMP, GDP, HPO4(2-), and Mg(2+) [X-RAY DIFFRACTION]
Structure of the Recombinant Mouse-Muscle Adenylosuccinate Synthetase Complexed with AMP [X-RAY DIFFRACTION]
Mouse Muscle Adenylosuccinate Synthetase partially ligated complex with GTP, 2'-deoxy-IMP [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000021726
AA Change: I366T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021726
Gene: ENSMUSG00000011148
AA Change: I366T

DomainStartEndE-ValueType
Adenylsucc_synt 33 455 5.9e-259 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000180015
AA Change: I389T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136572
Gene: ENSMUSG00000011148
AA Change: I389T

DomainStartEndE-ValueType
Adenylsucc_synt 33 478 2.17e-248 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221720
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,482,447 (GRCm39) V4326A probably damaging Het
Actn4 A G 7: 28,661,442 (GRCm39) probably null Het
Adamts8 A G 9: 30,865,844 (GRCm39) D464G probably benign Het
Alox12e T C 11: 70,207,081 (GRCm39) D575G possibly damaging Het
Ankrd44 A T 1: 54,817,489 (GRCm39) M73K probably benign Het
Ap4e1 A G 2: 126,905,289 (GRCm39) T987A probably benign Het
Banp A C 8: 122,727,759 (GRCm39) S318R probably damaging Het
Bcas1 T C 2: 170,260,538 (GRCm39) H47R probably damaging Het
Brwd1 G T 16: 95,803,993 (GRCm39) S2524* probably null Het
Btbd8 T C 5: 107,638,569 (GRCm39) I323T probably damaging Het
Cand2 T A 6: 115,769,219 (GRCm39) D676E probably benign Het
Cc2d1a A T 8: 84,867,755 (GRCm39) H224Q probably benign Het
Ccdc138 A T 10: 58,343,394 (GRCm39) Y83F probably benign Het
Ccdc162 A T 10: 41,429,576 (GRCm39) probably null Het
Ccdc162 A C 10: 41,455,147 (GRCm39) S396A probably damaging Het
Ces1e A T 8: 93,928,034 (GRCm39) *562R probably null Het
Clstn2 T A 9: 97,338,484 (GRCm39) M892L probably benign Het
Crybg3 T C 16: 59,345,264 (GRCm39) T2673A possibly damaging Het
Cstf3 A G 2: 104,482,830 (GRCm39) N326S probably benign Het
Cux1 G A 5: 136,594,295 (GRCm39) probably benign Het
Cyb5r4 T G 9: 86,922,456 (GRCm39) M155R probably benign Het
D130043K22Rik A G 13: 25,056,273 (GRCm39) D535G probably damaging Het
Dnah2 G A 11: 69,313,362 (GRCm39) P4266S probably damaging Het
Dnah7a T A 1: 53,682,654 (GRCm39) N272I probably benign Het
Dsg2 A G 18: 20,731,715 (GRCm39) Y779C possibly damaging Het
Eif4g3 T A 4: 137,854,054 (GRCm39) N507K probably benign Het
Elavl4 T C 4: 110,149,833 (GRCm39) Q3R probably null Het
Engase T G 11: 118,372,107 (GRCm39) I133S probably benign Het
Ercc5 T C 1: 44,219,782 (GRCm39) V1018A probably damaging Het
Ext1 C A 15: 52,939,213 (GRCm39) W612L probably damaging Het
Faap100 T A 11: 120,268,458 (GRCm39) E105V possibly damaging Het
Fam8a1 G A 13: 46,827,038 (GRCm39) A270T probably benign Het
Fhdc1 T G 3: 84,353,457 (GRCm39) Q589H probably benign Het
Gatm G A 2: 122,440,334 (GRCm39) T35I probably benign Het
Gcgr T C 11: 120,427,872 (GRCm39) I271T probably benign Het
Gm527 T A 12: 64,970,381 (GRCm39) Y239N probably damaging Het
H2-Ab1 A G 17: 34,486,358 (GRCm39) H139R possibly damaging Het
Herc2 G A 7: 55,877,574 (GRCm39) R4547Q possibly damaging Het
Itga1 A T 13: 115,171,839 (GRCm39) S89T probably benign Het
Kash5 C A 7: 44,839,078 (GRCm39) E53* probably null Het
Katnip A G 7: 125,471,356 (GRCm39) T1486A probably damaging Het
Lrba A G 3: 86,258,607 (GRCm39) M1365V probably benign Het
Lrp1b A C 2: 41,618,634 (GRCm39) probably null Het
Map1a G A 2: 121,132,867 (GRCm39) A990T probably damaging Het
Micall2 C A 5: 139,695,986 (GRCm39) L784F probably damaging Het
Mmp9 T C 2: 164,790,986 (GRCm39) probably null Het
Mrps7 T A 11: 115,495,655 (GRCm39) Y64* probably null Het
Mslnl C T 17: 25,957,942 (GRCm39) Q62* probably null Het
Nfil3 A G 13: 53,122,616 (GRCm39) L96P probably damaging Het
Or2f1 A G 6: 42,721,748 (GRCm39) Y259C probably damaging Het
Phf3 T C 1: 30,863,457 (GRCm39) D756G possibly damaging Het
Plxnd1 C T 6: 115,935,949 (GRCm39) probably null Het
Prickle4 C T 17: 48,000,982 (GRCm39) probably null Het
Prr9 T A 3: 92,030,356 (GRCm39) T95S possibly damaging Het
Prrc2a A G 17: 35,379,067 (GRCm39) probably null Het
Prrt3 A G 6: 113,474,520 (GRCm39) probably null Het
Psme4 A T 11: 30,826,806 (GRCm39) Y1775F probably damaging Het
Pum2 T C 12: 8,763,572 (GRCm39) V243A possibly damaging Het
Rnf32 T C 5: 29,408,145 (GRCm39) S125P probably damaging Het
Rnf8 A G 17: 29,845,604 (GRCm39) Y65C probably damaging Het
Rph3a T C 5: 121,086,833 (GRCm39) T456A possibly damaging Het
Scaper T A 9: 55,463,370 (GRCm39) Q854L probably null Het
Sez6l2 T C 7: 126,561,545 (GRCm39) S472P probably damaging Het
Spsb3 T C 17: 25,105,969 (GRCm39) probably benign Het
Srebf2 A G 15: 82,080,427 (GRCm39) D40G probably damaging Het
Sspo A G 6: 48,437,408 (GRCm39) N1389D probably benign Het
Taf4b G T 18: 14,963,152 (GRCm39) A631S probably benign Het
Tcstv1b T C 13: 120,635,089 (GRCm39) S124P probably benign Het
Tigd4 G A 3: 84,501,970 (GRCm39) V296M possibly damaging Het
Tsc22d2 T A 3: 58,324,737 (GRCm39) probably benign Het
Uso1 T A 5: 92,315,194 (GRCm39) probably null Het
Vmn2r6 T G 3: 64,445,935 (GRCm39) N597H probably benign Het
Zfc3h1 T A 10: 115,248,026 (GRCm39) S1076R possibly damaging Het
Zfp64 T A 2: 168,748,885 (GRCm39) Q44L probably benign 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
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
R6873:Adss1 UTSW 12 112,599,138 (GRCm39) missense probably benign 0.00
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'- AGATTTCAGCAATGCAGATGC -3'
(R):5'- CAGGAATGCCTCTCCTAGTCAC -3'

Sequencing Primer
(F):5'- GGCAGTCCTCTAGCCTGTTCAG -3'
(R):5'- TCTCCTAGTCACCTAGAAACTAGTGG -3'
Posted On 2016-06-21