Incidental Mutation 'R1722:Adss1'
ID 191573
Institutional Source Beutler Lab
Gene Symbol Adss1
Ensembl Gene ENSMUSG00000011148
Gene Name adenylosuccinate synthase 1
Synonyms Adss, Adssl1
MMRRC Submission 039754-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.226) question?
Stock # R1722 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 112586481-112607789 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 112602915 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 346 (I346F)
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 possibly damaging
Transcript: ENSMUST00000021726
AA Change: I346F

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000021726
Gene: ENSMUSG00000011148
AA Change: I346F

DomainStartEndE-ValueType
Adenylsucc_synt 33 455 5.9e-259 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000180015
AA Change: I369F

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000136572
Gene: ENSMUSG00000011148
AA Change: I369F

DomainStartEndE-ValueType
Adenylsucc_synt 33 478 2.17e-248 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221720
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223044
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931422A03Rik A T 2: 103,824,273 (GRCm39) probably null Het
Ahnak T A 19: 8,988,019 (GRCm39) L3101H probably damaging Het
Aldh3b3 A G 19: 4,014,871 (GRCm39) I123V possibly damaging Het
Angptl1 C T 1: 156,684,655 (GRCm39) P275S possibly damaging Het
Apoa5 C T 9: 46,181,847 (GRCm39) Q308* probably null Het
Arhgef12 T C 9: 42,932,013 (GRCm39) *106W probably null Het
Atp2c1 A G 9: 105,316,599 (GRCm39) Y485H probably benign Het
Atp6v1b1 C T 6: 83,720,074 (GRCm39) T3I possibly damaging Het
Btbd7 A T 12: 102,778,913 (GRCm39) I451N possibly damaging Het
Clasp1 T G 1: 118,518,194 (GRCm39) L1080R probably damaging Het
Clec4f A G 6: 83,623,915 (GRCm39) V408A probably benign Het
Clint1 T A 11: 45,797,233 (GRCm39) M438K possibly damaging Het
Cuzd1 A T 7: 130,913,373 (GRCm39) Y415N probably damaging Het
Ddias A G 7: 92,509,250 (GRCm39) F222L possibly damaging Het
Efcab7 A T 4: 99,757,815 (GRCm39) T321S probably benign Het
Elp3 A T 14: 65,788,846 (GRCm39) D393E probably benign Het
Fbn2 T C 18: 58,181,124 (GRCm39) probably null Het
Fcgr3 T C 1: 170,881,688 (GRCm39) R146G possibly damaging Het
Fkrp G A 7: 16,544,719 (GRCm39) A381V probably benign Het
Gatad2b T G 3: 90,262,986 (GRCm39) I476S probably damaging Het
Gm1527 C T 3: 28,975,783 (GRCm39) H557Y probably benign Het
Gm2431 A T 7: 141,811,599 (GRCm39) C102S unknown Het
Hoxd13 A G 2: 74,500,389 (GRCm39) N310S probably benign Het
Il9 T A 13: 56,627,208 (GRCm39) T135S probably benign Het
Ints4 A C 7: 97,162,786 (GRCm39) N476T probably benign Het
Kcnq4 A C 4: 120,559,624 (GRCm39) D525E probably benign Het
Kncn A T 4: 115,743,096 (GRCm39) Y57F probably damaging Het
Lpl TGG TG 8: 69,349,254 (GRCm39) probably null Het
Lrrfip2 A G 9: 111,028,829 (GRCm39) T351A probably damaging Het
Madd T C 2: 90,997,982 (GRCm39) E682G probably benign Het
Marchf7 A C 2: 60,064,526 (GRCm39) R267S probably damaging Het
Mmp16 T A 4: 18,051,767 (GRCm39) L252Q probably damaging Het
Mri1 A T 8: 84,980,554 (GRCm39) V296D possibly damaging Het
Myo3a A G 2: 22,404,638 (GRCm39) T665A probably benign Het
N4bp2 T C 5: 65,964,225 (GRCm39) V758A probably benign Het
Nbea T C 3: 55,573,116 (GRCm39) D2489G probably damaging Het
Neb T C 2: 52,146,757 (GRCm39) T2836A probably damaging Het
Nedd4l T A 18: 65,291,010 (GRCm39) V203E probably damaging Het
Nkpd1 C A 7: 19,257,846 (GRCm39) Q392K possibly damaging Het
Nploc4 G T 11: 120,273,395 (GRCm39) A576E probably benign Het
Nxph1 T A 6: 9,247,516 (GRCm39) N162K probably damaging Het
Or3a1 T C 11: 74,225,271 (GRCm39) Y262C probably damaging Het
Or7c70 T A 10: 78,682,805 (GRCm39) T315S probably benign Het
Pabpc2 T G 18: 39,908,169 (GRCm39) I478S probably benign Het
Pde7b G T 10: 20,311,990 (GRCm39) H190Q probably damaging Het
Plekha2 A T 8: 25,532,976 (GRCm39) S332T probably benign Het
Rapgef6 TG TGG 11: 54,437,223 (GRCm39) probably null Het
Rasl11a A T 5: 146,782,052 (GRCm39) H9L probably benign Het
Rer1 A T 4: 155,159,458 (GRCm39) F177I probably damaging Het
Rinl T C 7: 28,491,669 (GRCm39) L74P probably damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Rttn T C 18: 88,991,655 (GRCm39) V78A probably benign Het
Skint5 A T 4: 113,703,508 (GRCm39) probably null Het
Tenm2 A C 11: 35,898,930 (GRCm39) Y2743D probably damaging Het
Tmem101 T C 11: 102,045,519 (GRCm39) Y110C probably damaging Het
Trim9 T C 12: 70,295,148 (GRCm39) N658S probably benign Het
Ucp1 A T 8: 84,017,317 (GRCm39) T36S probably benign Het
Vmn2r43 A G 7: 8,258,067 (GRCm39) I382T probably damaging Het
Zfp142 C T 1: 74,608,935 (GRCm39) R1620Q probably damaging Het
Zfp386 T C 12: 116,023,526 (GRCm39) S380P 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
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
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'- CAGAACCATACTGGGGAGCAAAGTC -3'
(R):5'- GAGGAGTTCTACTTGCACTGTGGC -3'

Sequencing Primer
(F):5'- CAAAGTCCTGTGTGAGACCTCAG -3'
(R):5'- ACTTGCACTGTGGCCTTTG -3'
Posted On 2014-05-14