Incidental Mutation 'IGL03273:Aldoart1'
ID415316
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: 0.918) question?
Stock #IGL03273
Quality Score
Status
Chromosome4
Chromosomal Location72850583-72852634 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 72852109 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 154 (K154R)
Ref Sequence ENSEMBL: ENSMUSP00000077687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078617] [ENSMUST00000179234]
Predicted Effect probably benign
Transcript: ENSMUST00000078617
AA Change: K154R

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000077687
Gene: ENSMUSG00000059343
AA Change: K154R

DomainStartEndE-ValueType
Pfam:Glycolytic 70 419 1.6e-190 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179234
AA Change: K99R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000136908
Gene: ENSMUSG00000059343
AA Change: K99R

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930524N10Rik A T X: 154,339,701 F114L probably benign Het
Aaas A G 15: 102,349,995 I29T probably damaging Het
Adam32 T A 8: 24,921,340 I102F probably damaging Het
BC052040 A G 2: 115,631,991 Y68C probably damaging Het
Cep63 T C 9: 102,602,467 K349E probably benign Het
Col28a1 A G 6: 8,103,484 probably benign Het
Dennd4c A G 4: 86,777,796 N130S probably damaging Het
Dnah5 T G 15: 28,458,649 F4477L probably damaging Het
Fbln7 A T 2: 128,895,470 T402S probably benign Het
Frem2 A C 3: 53,537,509 Y2400* probably null Het
Gm11937 C T 11: 99,609,801 probably benign Het
Guca1a T C 17: 47,395,173 D127G probably benign Het
Hrh3 T A 2: 180,100,648 T396S possibly damaging Het
Map1a A G 2: 121,300,238 N512D probably damaging Het
Mysm1 A C 4: 94,965,718 S215A probably damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nup93 T A 8: 94,306,277 D556E probably benign Het
Ofcc1 T A 13: 40,180,525 K363N probably damaging Het
Psme4 T A 11: 30,848,130 S1374R probably damaging Het
Slitrk2 T C X: 66,653,996 I31T probably benign Het
Stk40 A G 4: 126,123,806 N42S possibly damaging Het
Tarbp1 A G 8: 126,453,835 L600P probably damaging Het
Tjp1 T C 7: 65,299,799 S1692G probably damaging Het
Tmem63c G T 12: 87,081,802 V534L probably damaging Het
Vmn2r77 A G 7: 86,811,286 K607E probably damaging Het
Zfp292 A T 4: 34,806,163 S2299T 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
IGL03493:Aldoart1 APN 4 72851647 missense probably damaging 0.98
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
R7672:Aldoart1 UTSW 4 72852510 missense probably benign
R7847:Aldoart1 UTSW 4 72851956 missense probably damaging 1.00
R7930:Aldoart1 UTSW 4 72851956 missense probably damaging 1.00
Z1176:Aldoart1 UTSW 4 72852004 missense probably benign 0.03
Posted On2016-08-02