Incidental Mutation 'R7847:Aldoart1'
ID 606672
Institutional Source Beutler Lab
Gene Symbol Aldoart1
Ensembl Gene ENSMUSG00000059343
Gene Name aldolase 1 A, retrogene 1
Synonyms Aldoa-ps2, Aldo1-ps2, 4921524E03Rik
MMRRC Submission 045901-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.935) question?
Stock # R7847 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 72768820-72770871 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 72770193 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 205 (C205Y)
Ref Sequence ENSEMBL: ENSMUSP00000077687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078617] [ENSMUST00000179234]
AlphaFold A6ZI46
Predicted Effect probably damaging
Transcript: ENSMUST00000078617
AA Change: C205Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000077687
Gene: ENSMUSG00000059343
AA Change: C205Y

DomainStartEndE-ValueType
Pfam:Glycolytic 70 419 1.6e-190 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000179234
AA Change: C150Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000136908
Gene: ENSMUSG00000059343
AA Change: C150Y

DomainStartEndE-ValueType
Pfam:Glycolytic 15 364 6.6e-176 PFAM
Meta Mutation Damage Score 0.8869 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (45/45)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik T A 17: 35,879,549 (GRCm39) Y296N probably benign Het
Abcc4 T C 14: 118,864,892 (GRCm39) E378G probably damaging Het
Acp2 C T 2: 91,041,077 (GRCm39) H422Y possibly damaging Het
Alg9 T C 9: 50,700,905 (GRCm39) L225S possibly damaging Het
Anapc1 A C 2: 128,511,828 (GRCm39) V455G possibly damaging Het
Arhgef5 C A 6: 43,252,069 (GRCm39) S940* probably null Het
Asb15 C A 6: 24,564,266 (GRCm39) A240E probably damaging Het
BB014433 GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG 8: 15,092,160 (GRCm39) probably benign Het
Ccdc17 A G 4: 116,457,103 (GRCm39) E529G probably benign Het
Cyp2b10 T C 7: 25,597,185 (GRCm39) S26P possibly damaging Het
Dcp1b T C 6: 119,192,256 (GRCm39) S391P probably benign Het
Dock6 A T 9: 21,712,503 (GRCm39) L2086Q unknown Het
Ephx1 A G 1: 180,829,426 (GRCm39) S41P probably benign Het
Erbb3 G A 10: 128,407,058 (GRCm39) T1034M probably damaging Het
Gm17334 T A 11: 53,663,564 (GRCm39) probably benign Het
Golgb1 A G 16: 36,752,282 (GRCm39) H3227R probably damaging Het
Grin2c G A 11: 115,151,804 (GRCm39) P52L possibly damaging Het
Herc2 T C 7: 55,807,308 (GRCm39) probably null Het
Il17rb A G 14: 29,718,763 (GRCm39) Y440H probably damaging Het
Kcng4 A G 8: 120,352,881 (GRCm39) L343P probably damaging Het
Knl1 G A 2: 118,901,457 (GRCm39) E1053K probably benign Het
Lipo4 A T 19: 33,491,599 (GRCm39) V128E possibly damaging Het
Lmntd2 T C 7: 140,790,063 (GRCm39) N650D probably benign Het
Lrrfip2 T C 9: 111,042,948 (GRCm39) L460P probably damaging Het
Man2a2 G C 7: 80,018,613 (GRCm39) A82G probably benign Het
Mtcl1 T C 17: 66,651,328 (GRCm39) Q1379R probably damaging Het
Mtfr2 G A 10: 20,233,198 (GRCm39) A256T probably benign Het
Mup17 T A 4: 61,511,456 (GRCm39) H159L probably benign Het
Ndufaf1 A T 2: 119,490,534 (GRCm39) D175E probably damaging Het
Nup210l A G 3: 90,058,430 (GRCm39) M610V probably benign Het
Or10ak14 G T 4: 118,611,565 (GRCm39) H59N possibly damaging Het
Or7a38 T A 10: 78,752,730 (GRCm39) S19T probably benign Het
Or8g35 A G 9: 39,381,801 (GRCm39) S74P probably benign Het
Pard3b A G 1: 62,383,093 (GRCm39) D729G probably benign Het
Phactr1 T C 13: 43,210,664 (GRCm39) L169P possibly damaging Het
Rad54b T A 4: 11,612,655 (GRCm39) S762R probably damaging Het
Senp5 C T 16: 31,808,991 (GRCm39) V88I probably benign Het
Specc1l T C 10: 75,145,670 (GRCm39) V1105A probably damaging Het
Trak2 A C 1: 58,974,977 (GRCm39) S72A possibly damaging Het
Ttyh2 T C 11: 114,566,500 (GRCm39) probably null Het
Ush2a G A 1: 188,163,005 (GRCm39) C1029Y probably damaging Het
Vmn2r17 A G 5: 109,568,063 (GRCm39) Y62C probably damaging Het
Vmn2r41 A G 7: 8,164,547 (GRCm39) F2L probably benign Het
Xirp1 G T 9: 119,848,819 (GRCm39) D21E possibly damaging Het
Zfp114 C A 7: 23,880,460 (GRCm39) Q270K possibly damaging Het
Zfp341 T C 2: 154,476,114 (GRCm39) S441P probably damaging Het
Zfp780b A C 7: 27,663,843 (GRCm39) H237Q probably benign Het
Other mutations in Aldoart1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02499:Aldoart1 APN 4 72,770,476 (GRCm39) missense possibly damaging 0.79
IGL03067:Aldoart1 APN 4 72,770,194 (GRCm39) missense possibly damaging 0.46
IGL03273:Aldoart1 APN 4 72,770,346 (GRCm39) missense probably benign 0.20
IGL03493:Aldoart1 APN 4 72,769,884 (GRCm39) missense probably damaging 0.98
R0145:Aldoart1 UTSW 4 72,769,576 (GRCm39) missense probably benign 0.06
R0478:Aldoart1 UTSW 4 72,770,580 (GRCm39) missense probably benign
R1770:Aldoart1 UTSW 4 72,770,173 (GRCm39) missense probably benign 0.00
R2044:Aldoart1 UTSW 4 72,770,779 (GRCm39) missense probably benign 0.00
R4627:Aldoart1 UTSW 4 72,770,680 (GRCm39) missense probably benign
R5344:Aldoart1 UTSW 4 72,770,352 (GRCm39) missense possibly damaging 0.95
R5867:Aldoart1 UTSW 4 72,770,770 (GRCm39) missense probably benign 0.00
R6234:Aldoart1 UTSW 4 72,770,409 (GRCm39) missense probably damaging 1.00
R7431:Aldoart1 UTSW 4 72,769,678 (GRCm39) nonsense probably null
R7672:Aldoart1 UTSW 4 72,770,747 (GRCm39) missense probably benign
R9259:Aldoart1 UTSW 4 72,770,680 (GRCm39) missense probably benign
R9333:Aldoart1 UTSW 4 72,770,367 (GRCm39) missense probably benign 0.00
R9572:Aldoart1 UTSW 4 72,770,770 (GRCm39) missense probably benign 0.00
Z1176:Aldoart1 UTSW 4 72,770,241 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- AGCTGCCAGTACCTTCTCAG -3'
(R):5'- TCTTCCATGAGACACTGTACG -3'

Sequencing Primer
(F):5'- GCCAGTACCTTCTCAGTTACATAC -3'
(R):5'- TCTTCCATGAGACACTGTACGAGAAG -3'
Posted On 2019-12-20