Incidental Mutation 'IGL03105:Adss1'
ID 418932
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adss1
Ensembl Gene ENSMUSG00000011148
Gene Name adenylosuccinate synthase 1
Synonyms Adss, Adssl1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.226) question?
Stock # IGL03105
Quality Score
Status
Chromosome 12
Chromosomal Location 112586481-112607789 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 112599155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 129 (I129V)
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: I129V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021726
Gene: ENSMUSG00000011148
AA Change: I129V

DomainStartEndE-ValueType
Adenylsucc_synt 33 455 5.9e-259 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000180015
AA Change: I129V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000136572
Gene: ENSMUSG00000011148
AA Change: I129V

DomainStartEndE-ValueType
Adenylsucc_synt 33 478 2.17e-248 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223044
Coding Region Coverage
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd35 A G 3: 96,591,373 (GRCm39) H553R probably benign Het
Brca2 A G 5: 150,483,950 (GRCm39) K2923R probably benign Het
Cadm3 A T 1: 173,172,583 (GRCm39) L174M probably damaging Het
Car10 T C 11: 92,991,101 (GRCm39) V17A probably benign Het
Cep290 A G 10: 100,387,686 (GRCm39) K1956E possibly damaging Het
Cfhr1 T A 1: 139,475,565 (GRCm39) probably benign Het
Crim1 A T 17: 78,623,179 (GRCm39) probably benign Het
Dedd G A 1: 171,168,486 (GRCm39) R224H probably damaging Het
F7 A T 8: 13,084,001 (GRCm39) I229L probably null Het
Igkv17-121 A T 6: 68,014,284 (GRCm39) Q112L probably damaging Het
Kcnk13 G A 12: 100,027,369 (GRCm39) R148Q probably damaging Het
Klk13 T C 7: 43,370,904 (GRCm39) L51P probably benign Het
Ldb2 A G 5: 44,956,715 (GRCm39) S41P possibly damaging Het
Magi2 A G 5: 20,748,616 (GRCm39) D767G probably damaging Het
Mical3 T C 6: 121,019,199 (GRCm39) T8A probably benign Het
Mkln1 G T 6: 31,435,994 (GRCm39) E318* probably null Het
Mx1 C T 16: 97,257,554 (GRCm39) V68I possibly damaging Het
Mylk2 T C 2: 152,759,279 (GRCm39) V350A possibly damaging Het
Nav2 T A 7: 49,114,627 (GRCm39) S870R probably damaging Het
Onecut2 A T 18: 64,474,579 (GRCm39) K358* probably null Het
Or51b4 A G 7: 103,531,339 (GRCm39) I37T possibly damaging Het
Or52n2c A T 7: 104,574,971 (GRCm39) probably benign Het
Or7a40 T C 16: 16,491,390 (GRCm39) T152A probably benign Het
Or7g16 T C 9: 18,726,685 (GRCm39) R302G probably benign Het
Orai3 A G 7: 127,372,725 (GRCm39) probably benign Het
Rad54b A G 4: 11,615,569 (GRCm39) N859S probably benign Het
Saxo4 A G 19: 10,454,384 (GRCm39) probably benign Het
Sec23b C T 2: 144,423,940 (GRCm39) R530W probably damaging Het
Slc25a35 T C 11: 68,859,496 (GRCm39) F3S probably damaging Het
Slc7a11 A T 3: 50,326,788 (GRCm39) I491K possibly damaging Het
Srrt A T 5: 137,298,106 (GRCm39) N317K possibly damaging Het
Sspo T C 6: 48,450,592 (GRCm39) probably benign Het
Taf2 A C 15: 54,909,195 (GRCm39) D683E probably benign Het
Tasor T A 14: 27,164,509 (GRCm39) C272S probably damaging Het
Tcerg1l G T 7: 137,850,173 (GRCm39) probably benign Het
Tg G T 15: 66,586,955 (GRCm39) V1578F probably benign Het
Tmem43 G A 6: 91,457,682 (GRCm39) G188D probably damaging Het
Tnfrsf8 T C 4: 145,025,354 (GRCm39) Y73C probably damaging Het
Ttc21a A G 9: 119,771,642 (GRCm39) Y147C probably benign Het
Ttn T C 2: 76,608,394 (GRCm39) D17843G probably damaging Het
Ttn T A 2: 76,642,521 (GRCm39) D11592V probably damaging Het
Tubgcp5 T A 7: 55,475,329 (GRCm39) I842N probably damaging Het
Unc80 A T 1: 66,511,258 (GRCm39) T89S probably damaging Het
Usp28 T C 9: 48,950,355 (GRCm39) M928T probably damaging Het
Usp43 A G 11: 67,770,802 (GRCm39) S611P possibly damaging Het
Utp20 A G 10: 88,626,958 (GRCm39) V1000A probably benign Het
Zfp263 T C 16: 3,566,824 (GRCm39) C380R probably damaging Het
Zfyve1 A C 12: 83,605,413 (GRCm39) C14G probably damaging Het
Other mutations in Adss1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01302:Adss1 APN 12 112,601,170 (GRCm39) splice site probably benign
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
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
Posted On 2016-08-02