Incidental Mutation 'R7449:Adss1'
ID 577585
Institutional Source Beutler Lab
Gene Symbol Adss1
Ensembl Gene ENSMUSG00000011148
Gene Name adenylosuccinate synthase 1
Synonyms Adss, Adssl1
MMRRC Submission 045524-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.226) question?
Stock # R7449 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 112586481-112607789 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 112600585 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 185 (T185S)
Ref Sequence ENSEMBL: ENSMUSP00000136572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021726] [ENSMUST00000180015]
AlphaFold P28650
Predicted Effect probably damaging
Transcript: ENSMUST00000021726
AA Change: T162S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021726
Gene: ENSMUSG00000011148
AA Change: T162S

DomainStartEndE-ValueType
Adenylsucc_synt 33 455 5.9e-259 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000180015
AA Change: T185S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136572
Gene: ENSMUSG00000011148
AA Change: T185S

DomainStartEndE-ValueType
Adenylsucc_synt 33 478 2.17e-248 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,035,131 (GRCm39) Y306N possibly damaging Het
Adgrv1 A T 13: 81,647,192 (GRCm39) V3116D probably damaging Het
Ago2 G A 15: 73,018,348 (GRCm39) P30L probably damaging Het
Arb2a A G 13: 77,907,561 (GRCm39) I41V probably damaging Het
Atp5pf C T 16: 84,628,251 (GRCm39) V44M probably benign Het
Atp7b T A 8: 22,501,865 (GRCm39) I833F probably damaging Het
Birc6 T A 17: 75,009,336 (GRCm39) N4869K probably benign Het
Cacna1c C T 6: 118,579,310 (GRCm39) D1796N Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cnga1 A G 5: 72,762,647 (GRCm39) I289T probably benign Het
Crybg1 C A 10: 43,880,515 (GRCm39) E224D probably benign Het
Dysf T C 6: 84,114,362 (GRCm39) L1217P possibly damaging Het
Ebf2 T A 14: 67,647,469 (GRCm39) N339K probably damaging Het
Eva1c T C 16: 90,673,081 (GRCm39) probably null Het
Fam184a T C 10: 53,574,730 (GRCm39) E293G probably damaging Het
Folh1 G A 7: 86,380,956 (GRCm39) P506S probably benign Het
Ftcd A T 10: 76,415,997 (GRCm39) K210N probably benign Het
Gdf6 T A 4: 9,844,494 (GRCm39) V6D possibly damaging Het
Ghitm C A 14: 36,853,538 (GRCm39) G101C probably damaging Het
Gimap5 T A 6: 48,729,838 (GRCm39) V136D probably damaging Het
Grm4 C T 17: 27,654,345 (GRCm39) G535D probably damaging Het
Gse1 T C 8: 120,956,450 (GRCm39) S314P unknown Het
Hnrnpdl A G 5: 100,185,014 (GRCm39) I279T probably damaging Het
Idi2l T A 13: 8,993,340 (GRCm39) H51L probably damaging Het
Itpr1 T C 6: 108,366,345 (GRCm39) S923P probably damaging Het
Krt39 C A 11: 99,408,887 (GRCm39) C303F probably benign Het
Lrrn1 T C 6: 107,545,482 (GRCm39) S427P possibly damaging Het
Lrrn3 T A 12: 41,503,487 (GRCm39) R277W probably damaging Het
Ltb4r1 T C 14: 56,005,375 (GRCm39) L226P probably damaging Het
Map1b C T 13: 99,644,648 (GRCm39) R85Q probably damaging Het
Mcoln1 T C 8: 3,557,285 (GRCm39) L125P probably damaging Het
Nid1 T G 13: 13,656,636 (GRCm39) V589G probably damaging Het
Nlrp5 T G 7: 23,116,951 (GRCm39) F225C probably benign Het
Notch3 C T 17: 32,376,940 (GRCm39) A322T probably damaging Het
Or14c43 A G 7: 86,115,063 (GRCm39) H148R probably benign Het
Or52a5b G T 7: 103,417,026 (GRCm39) Q193K probably benign Het
Or7g34 T A 9: 19,478,162 (GRCm39) T173S probably benign Het
Otogl A G 10: 107,639,524 (GRCm39) C1363R probably damaging Het
Ovol1 T A 19: 5,603,625 (GRCm39) D92V probably benign Het
Pigt T C 2: 164,344,419 (GRCm39) L356P probably damaging Het
Plekhg3 A G 12: 76,612,996 (GRCm39) Q434R probably damaging Het
Plekhh1 T C 12: 79,126,326 (GRCm39) F1344L probably benign Het
Polr1has A G 17: 37,275,275 (GRCm39) D16G probably damaging Het
Psmd3 T A 11: 98,586,377 (GRCm39) L515Q probably damaging Het
Pus1 A G 5: 110,922,452 (GRCm39) L405P probably damaging Het
Qtrt2 T A 16: 43,701,395 (GRCm39) H55L probably benign Het
Rasgrp1 T C 2: 117,118,424 (GRCm39) I522V probably damaging Het
Raver2 T A 4: 100,959,860 (GRCm39) H113Q probably damaging Het
Recql4 T C 15: 76,589,765 (GRCm39) D760G unknown Het
Rhobtb3 C T 13: 76,058,860 (GRCm39) V313M probably benign Het
Rhox4d G A X: 36,700,645 (GRCm39) G191E unknown Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rnf185 T C 11: 3,376,578 (GRCm39) Q135R probably benign Het
Sema3f T C 9: 107,561,235 (GRCm39) S584G probably damaging Het
Sh3pxd2a T A 19: 47,256,091 (GRCm39) T904S probably benign Het
Slc4a10 T C 2: 62,134,290 (GRCm39) V1002A probably benign Het
Taf1b T C 12: 24,554,992 (GRCm39) I55T probably benign Het
Tchh CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC 3: 93,354,015 (GRCm39) probably benign Het
Tenm4 A T 7: 96,523,420 (GRCm39) D1654V possibly damaging Het
Tgfb1 G A 7: 25,404,263 (GRCm39) V357M probably damaging Het
Tnxb C T 17: 34,922,335 (GRCm39) P2383S possibly damaging Het
Trpm1 A T 7: 63,858,723 (GRCm39) M382L probably benign Het
Trrap A G 5: 144,788,019 (GRCm39) Y3516C probably damaging Het
Txnrd1 T A 10: 82,721,067 (GRCm39) Y494* probably null Het
Ubr2 C T 17: 47,275,714 (GRCm39) E811K probably damaging Het
Ubxn4 T A 1: 128,172,280 (GRCm39) F25I possibly damaging Het
Vmn2r117 A G 17: 23,678,869 (GRCm39) M785T probably damaging Het
Vmn2r99 G A 17: 19,599,407 (GRCm39) D364N probably benign Het
Vps45 C A 3: 95,954,448 (GRCm39) probably null Het
Wdr25 A C 12: 108,992,367 (GRCm39) H426P probably damaging Het
Wdr83 A T 8: 85,806,310 (GRCm39) W136R probably damaging Het
Xylt1 A C 7: 117,191,232 (GRCm39) I343L possibly damaging Het
Zscan4b T C 7: 10,637,985 (GRCm39) Q53R possibly 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
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
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'- ATCCTGCTGCTATGTGCTTG -3'
(R):5'- TGAATCTGTGCAGGCAACCC -3'

Sequencing Primer
(F):5'- TGCTTGAGCTGTCCACATG -3'
(R):5'- TCACTGTGACCCTCTGAGGAC -3'
Posted On 2019-10-07