Incidental Mutation 'IGL03067:Aldoart1'
ID 409738
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aldoart1
Ensembl Gene ENSMUSG00000059343
Gene Name aldolase 1 A, retrogene 1
Synonyms Aldoa-ps2, Aldo1-ps2, 4921524E03Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.935) question?
Stock # IGL03067
Quality Score
Status
Chromosome 4
Chromosomal Location 72768820-72770871 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 72770194 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 205 (C205S)
Ref Sequence ENSEMBL: ENSMUSP00000077687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078617] [ENSMUST00000179234]
AlphaFold A6ZI46
Predicted Effect possibly damaging
Transcript: ENSMUST00000078617
AA Change: C205S

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000077687
Gene: ENSMUSG00000059343
AA Change: C205S

DomainStartEndE-ValueType
Pfam:Glycolytic 70 419 1.6e-190 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179234
AA Change: C150S

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000136908
Gene: ENSMUSG00000059343
AA Change: C150S

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A T 11: 119,900,909 (GRCm39) D1162E probably benign Het
Abhd2 T C 7: 79,009,782 (GRCm39) F386L probably benign Het
Adamts6 C T 13: 104,433,783 (GRCm39) R71W probably damaging Het
Adgrv1 T C 13: 81,590,599 (GRCm39) Y4403C probably damaging Het
Ap2a1 C A 7: 44,552,935 (GRCm39) A711S probably benign Het
Arhgef28 A G 13: 98,124,794 (GRCm39) I496T probably benign Het
Cyp27a1 A G 1: 74,771,068 (GRCm39) probably null Het
Cyp2c69 C T 19: 39,869,537 (GRCm39) G161S probably benign Het
Dpy19l1 A G 9: 24,349,956 (GRCm39) V428A probably benign Het
Foxk2 C T 11: 121,176,394 (GRCm39) T180M possibly damaging Het
Gm3402 C A 5: 146,451,399 (GRCm39) H86N possibly damaging Het
Gm3543 A G 14: 41,802,830 (GRCm39) probably benign Het
Gnai3 T C 3: 108,025,609 (GRCm39) probably benign Het
Hmcn2 C T 2: 31,236,642 (GRCm39) P395L probably damaging Het
Igsf10 T C 3: 59,226,339 (GRCm39) I2445V probably benign Het
Il10ra T C 9: 45,167,157 (GRCm39) T465A probably benign Het
Itpr2 G A 6: 146,226,680 (GRCm39) L1322F probably damaging Het
Man1b1 T C 2: 25,239,344 (GRCm39) Y536H probably benign Het
P3h1 A G 4: 119,092,477 (GRCm39) H170R probably damaging Het
Pakap A T 4: 57,648,038 (GRCm39) T59S probably benign Het
Parp14 A G 16: 35,676,878 (GRCm39) V1030A probably benign Het
Pdzd2 A G 15: 12,388,628 (GRCm39) probably null Het
Pilra T C 5: 137,821,843 (GRCm39) Y264C probably damaging Het
Ptprf A G 4: 118,067,910 (GRCm39) V1799A possibly damaging Het
Rap1gap2 A G 11: 74,284,238 (GRCm39) S649P possibly damaging Het
Rasgrf2 T C 13: 92,159,413 (GRCm39) M426V probably damaging Het
Rpl9 A G 5: 65,548,191 (GRCm39) I18T possibly damaging Het
Slc6a19 C A 13: 73,837,849 (GRCm39) E217* probably null Het
Smtn C A 11: 3,480,165 (GRCm39) R352L possibly damaging Het
Supv3l1 C A 10: 62,265,600 (GRCm39) D647Y probably damaging Het
Sv2a A G 3: 96,092,498 (GRCm39) Y66C probably damaging Het
Upk1b A G 16: 38,605,272 (GRCm39) I107T probably damaging Het
Yif1a T C 19: 5,139,813 (GRCm39) V86A possibly damaging Het
Zfp820 T C 17: 22,038,801 (GRCm39) T176A possibly damaging Het
Other mutations in Aldoart1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02499:Aldoart1 APN 4 72,770,476 (GRCm39) missense possibly damaging 0.79
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
R7847:Aldoart1 UTSW 4 72,770,193 (GRCm39) missense probably damaging 1.00
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
Posted On 2016-08-02