Incidental Mutation 'IGL02499:Aldoart1'
ID295931
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: 0.856) question?
Stock #IGL02499
Quality Score
Status
Chromosome4
Chromosomal Location72850583-72852634 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 72852239 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Tryptophan at position 111 (R111W)
Ref Sequence ENSEMBL: ENSMUSP00000077687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078617] [ENSMUST00000179234]
Predicted Effect possibly damaging
Transcript: ENSMUST00000078617
AA Change: R111W

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000077687
Gene: ENSMUSG00000059343
AA Change: R111W

DomainStartEndE-ValueType
Pfam:Glycolytic 70 419 1.6e-190 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179234
AA Change: R56W

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000136908
Gene: ENSMUSG00000059343
AA Change: R56W

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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Abcb1a A G 5: 8,726,807 N835S possibly damaging Het
Abr A T 11: 76,509,090 F27Y probably benign Het
Adam5 C T 8: 24,781,565 probably null Het
Alas1 A T 9: 106,241,321 Y201N probably damaging Het
Arhgef25 A G 10: 127,185,591 Y253H probably damaging Het
Arhgef28 G T 13: 97,953,783 A1076E possibly damaging Het
Baz2b C T 2: 59,901,496 R2066K possibly damaging Het
Bdh1 G T 16: 31,438,048 R5L possibly damaging Het
Brap A G 5: 121,679,871 Y358C probably damaging Het
Cad T C 5: 31,069,604 V1235A probably damaging Het
Cadps G T 14: 12,822,725 S5* probably null Het
Cd200r2 A G 16: 44,914,585 T220A possibly damaging Het
Cd209e T A 8: 3,854,238 M6L probably benign Het
Cdh23 G T 10: 60,385,179 T1265K probably damaging Het
Clec16a T C 16: 10,694,676 S828P probably benign Het
Dao A G 5: 114,013,941 K107E possibly damaging Het
Dnah6 T A 6: 73,021,227 M4071L probably benign Het
Dvl1 T C 4: 155,854,780 I250T probably benign Het
Dzip3 A C 16: 48,933,850 L945V probably damaging Het
Gm128 A G 3: 95,240,681 S101P possibly damaging Het
Gm4951 T C 18: 60,245,638 S82P probably damaging Het
Gphn T C 12: 78,492,300 L240P probably benign Het
Hecw2 A G 1: 53,926,488 I393T probably benign Het
Kat14 A G 2: 144,393,831 E161G probably benign Het
Kcne3 A C 7: 100,184,403 I76L probably benign Het
Kcnk18 A T 19: 59,235,182 Q253L probably benign Het
Kmt2a T C 9: 44,830,509 probably benign Het
Lrrc73 A G 17: 46,256,989 probably benign Het
Mki67 A G 7: 135,694,327 S2993P possibly damaging Het
Mto1 T A 9: 78,461,512 probably benign Het
Myo9a T A 9: 59,815,386 probably benign Het
Myt1 G A 2: 181,825,549 probably benign Het
Ncoa7 T C 10: 30,690,889 T587A probably benign Het
Nemf T A 12: 69,322,129 I771F probably damaging Het
Olfr180 A G 16: 58,916,251 L130P probably damaging Het
Olfr250 A T 9: 38,367,681 Y45F probably benign Het
Olfr370 T A 8: 83,541,183 V13D possibly damaging Het
Papln T C 12: 83,780,671 V761A probably benign Het
Pask A T 1: 93,321,095 L861* probably null Het
Pcdh18 T A 3: 49,753,447 R859S probably benign Het
Ppip5k1 C T 2: 121,331,553 probably null Het
Ptprs A G 17: 56,437,884 V284A probably damaging Het
Rasgrp4 A T 7: 29,151,503 probably benign Het
Rp1 T C 1: 4,349,048 I614V probably benign Het
Sec23ip T C 7: 128,776,916 I818T probably damaging Het
Skint11 G A 4: 114,194,604 A50T probably benign Het
Sqor T A 2: 122,808,087 M417K possibly damaging Het
Tbc1d24 T C 17: 24,207,619 probably null Het
Tbc1d8b A T X: 139,712,424 D333V probably damaging Het
Tbx2 T C 11: 85,840,913 S679P possibly damaging Het
Thbs2 A G 17: 14,684,066 probably benign Het
Ttn T C 2: 76,859,451 probably benign Het
Vmn2r28 A T 7: 5,490,569 I126N probably damaging Het
Zbtb10 G T 3: 9,251,740 G204V probably damaging Het
Zfp426 A C 9: 20,473,118 probably benign Het
Other mutations in Aldoart1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03067:Aldoart1 APN 4 72851957 missense possibly damaging 0.46
IGL03273:Aldoart1 APN 4 72852109 missense probably benign 0.20
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
Posted On2015-04-16