Incidental Mutation 'R0478:Aldoart1'
ID43193
Institutional Source Beutler Lab
Gene Symbol Aldoart1
Ensembl Gene ENSMUSG00000059343
Gene Namealdolase 1 A, retrogene 1
SynonymsAldoa-ps2, 4921524E03Rik, Aldo1-ps2
MMRRC Submission 038678-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.942) question?
Stock #R0478 (G1)
Quality Score225
Status Validated
Chromosome4
Chromosomal Location72850583-72852634 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 72852343 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 21 (H21L)
Ref Sequence ENSEMBL: ENSMUSP00000136908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078617] [ENSMUST00000179234]
Predicted Effect probably benign
Transcript: ENSMUST00000078617
AA Change: H76L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000077687
Gene: ENSMUSG00000059343
AA Change: H76L

DomainStartEndE-ValueType
Pfam:Glycolytic 70 419 1.6e-190 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179234
AA Change: H21L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136908
Gene: ENSMUSG00000059343
AA Change: H21L

DomainStartEndE-ValueType
Pfam:Glycolytic 15 364 6.6e-176 PFAM
Meta Mutation Damage Score 0.0747 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (49/49)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A T 7: 29,562,589 noncoding transcript Het
4930556J24Rik T G 11: 3,976,259 probably benign Het
Acnat1 T G 4: 49,450,901 D70A probably damaging Het
Adnp2 A G 18: 80,129,334 V620A probably benign Het
Birc3 A G 9: 7,860,347 V290A probably damaging Het
Bpifb3 C T 2: 153,931,480 probably benign Het
Camta1 C A 4: 151,075,140 R1614L probably damaging Het
Clmn A G 12: 104,785,491 M235T probably damaging Het
Dmbt1 A G 7: 131,041,187 E245G possibly damaging Het
Epgn G T 5: 91,031,128 V36L probably benign Het
Ets2 C A 16: 95,716,262 P346Q probably damaging Het
Fam222b T C 11: 78,153,856 L81P probably damaging Het
Fancf A C 7: 51,861,692 L188R probably damaging Het
Fibin T C 2: 110,362,734 D21G possibly damaging Het
Fzd6 A G 15: 39,034,034 probably null Het
Gbp4 T A 5: 105,119,433 Q540L probably benign Het
Greb1l T A 18: 10,509,281 L531Q probably damaging Het
Il5ra A G 6: 106,738,462 V137A probably benign Het
Kif26a G A 12: 112,175,789 A826T probably damaging Het
Kiz T C 2: 146,942,158 V537A possibly damaging Het
Klhl32 C T 4: 24,792,777 G15D probably damaging Het
Kmt2d G A 15: 98,853,581 probably benign Het
Lbp T C 2: 158,317,528 probably benign Het
Mmp25 T C 17: 23,632,782 T318A probably benign Het
Mrpl50 A G 4: 49,514,513 C53R probably damaging Het
Msl3l2 G C 10: 56,115,315 E45D probably damaging Het
Nfxl1 A G 5: 72,524,645 probably null Het
Noc3l A G 19: 38,810,006 probably null Het
Olfr1126 T A 2: 87,458,026 V287E probably damaging Het
Olfr1375 T C 11: 51,048,712 S202P probably benign Het
Pgm5 A T 19: 24,834,869 S100T possibly damaging Het
Pi4ka C T 16: 17,309,311 G1093S possibly damaging Het
Pitrm1 T A 13: 6,559,395 S350T probably damaging Het
Ptk2b G T 14: 66,213,372 N48K probably damaging Het
Sept3 T C 15: 82,290,806 L172P probably damaging Het
Sirt3 A T 7: 140,878,114 C41S probably benign Het
Sphkap C T 1: 83,278,711 R152H probably damaging Het
St3gal1 T C 15: 67,113,730 Y25C probably damaging Het
Tbc1d31 T C 15: 57,932,536 F175S probably damaging Het
Tfdp2 T A 9: 96,290,583 D43E probably benign Het
Tgm1 G A 14: 55,700,334 Q773* probably null Het
Tmc3 A T 7: 83,622,152 R837S possibly damaging Het
Unc13a A G 8: 71,651,148 V880A possibly damaging Het
Vmn1r237 T A 17: 21,314,819 V268E probably damaging Het
Zan C T 5: 137,400,526 probably benign Het
Zfp760 G T 17: 21,722,014 E57* probably null 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
IGL03493:Aldoart1 APN 4 72851647 missense probably damaging 0.98
R0145:Aldoart1 UTSW 4 72851339 missense probably benign 0.06
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
Predicted Primers PCR Primer
(F):5'- TTCACACGGTCATCAGCAGTCAG -3'
(R):5'- TTGGAATGCGCCGCAGAATGAG -3'

Sequencing Primer
(F):5'- TCAGCAGCAACTGGCGG -3'
(R):5'- AATGAGGTTCTGGTAACCCTAGC -3'
Posted On2013-05-23