Incidental Mutation 'IGL03493:Aldoart1'
ID490712
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aldoart1
Ensembl Gene ENSMUSG00000059343
Gene Namealdolase 1 A, retrogene 1
SynonymsAldoa-ps2, 4921524E03Rik, Aldo1-ps2
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.934) question?
Stock #IGL03493
Quality Score
Status
Chromosome4
Chromosomal Location72850583-72852634 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 72851647 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 253 (T253I)
Ref Sequence ENSEMBL: ENSMUSP00000136908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078617] [ENSMUST00000179234]
Predicted Effect possibly damaging
Transcript: ENSMUST00000078617
AA Change: T308I

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000077687
Gene: ENSMUSG00000059343
AA Change: T308I

DomainStartEndE-ValueType
Pfam:Glycolytic 70 419 1.6e-190 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000179234
AA Change: T253I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136908
Gene: ENSMUSG00000059343
AA Change: T253I

DomainStartEndE-ValueType
Pfam:Glycolytic 15 364 6.6e-176 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ampd2 T C 3: 108,075,358 E694G probably damaging Het
Atcay C A 10: 81,210,573 E306* probably null Het
Atp13a5 G T 16: 29,297,524 D546E probably benign Het
C2cd2 T C 16: 97,881,661 D125G probably damaging Het
Col23a1 T C 11: 51,564,805 probably null Het
Col9a1 T A 1: 24,221,570 probably benign Het
Cyp4a31 T A 4: 115,570,755 probably null Het
Dnah11 G A 12: 118,012,798 R2708C probably benign Het
Dzip3 T C 16: 48,951,696 I537V probably benign Het
Ezh1 T C 11: 101,203,791 T392A probably benign Het
Hsd17b14 A T 7: 45,556,091 D42V probably damaging Het
Hsf2 A T 10: 57,505,366 I294F probably damaging Het
Ibtk G T 9: 85,718,919 S797R probably benign Het
Kif20b T A 19: 34,959,550 C183* probably null Het
Lnpep G T 17: 17,579,171 A74E probably damaging Het
Map4k1 A T 7: 28,984,151 probably benign Het
Matn1 A G 4: 130,949,998 R173G probably benign Het
Nyap1 A G 5: 137,735,016 I585T probably damaging Het
Olfr1167 G A 2: 88,149,936 P28S probably benign Het
Olfr60 A T 7: 140,345,153 Y279N probably damaging Het
Olfr676 A G 7: 105,035,944 T249A probably damaging Het
Phactr2 A G 10: 13,257,669 V190A probably benign Het
Podnl1 G A 8: 84,132,189 V548I probably benign Het
Rad51c A T 11: 87,397,753 H201Q probably benign Het
Sec63 C A 10: 42,828,941 D730E probably benign Het
Smarcc2 A G 10: 128,461,357 I39M probably damaging Het
Trav2 A G 14: 52,567,288 probably benign Het
Ugt3a2 A G 15: 9,361,483 Y115C probably damaging Het
Zfp955b T G 17: 33,302,545 H329Q probably benign Het
Other mutations in Aldoart1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02499:Aldoart1 APN 4 72852239 missense possibly damaging 0.79
IGL03067:Aldoart1 APN 4 72851957 missense possibly damaging 0.46
IGL03273:Aldoart1 APN 4 72852109 missense probably benign 0.20
R0145:Aldoart1 UTSW 4 72851339 missense probably benign 0.06
R0478:Aldoart1 UTSW 4 72852343 missense probably benign
R1770:Aldoart1 UTSW 4 72851936 missense probably benign 0.00
R2044:Aldoart1 UTSW 4 72852542 missense probably benign 0.00
R4627:Aldoart1 UTSW 4 72852443 missense probably benign
R5344:Aldoart1 UTSW 4 72852115 missense possibly damaging 0.95
R5867:Aldoart1 UTSW 4 72852533 missense probably benign 0.00
R6234:Aldoart1 UTSW 4 72852172 missense probably damaging 1.00
R7431:Aldoart1 UTSW 4 72851441 nonsense probably null
Posted On2017-10-20