Incidental Mutation 'IGL03279:Hao2'
ID 415524
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hao2
Ensembl Gene ENSMUSG00000027870
Gene Name hydroxyacid oxidase 2
Synonyms Hao3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03279
Quality Score
Status
Chromosome 3
Chromosomal Location 98781837-98800555 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 98787712 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 239 (N239I)
Ref Sequence ENSEMBL: ENSMUSP00000029464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029464]
AlphaFold Q9NYQ2
Predicted Effect possibly damaging
Transcript: ENSMUST00000029464
AA Change: N239I

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000029464
Gene: ENSMUSG00000027870
AA Change: N239I

DomainStartEndE-ValueType
Pfam:FMN_dh 13 350 1.8e-127 PFAM
Pfam:Glu_synthase 258 314 1.1e-6 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of three related genes that have 2-hydroxyacid oxidase activity. The encoded protein localizes to the peroxisome has the highest activity toward the substrate 2-hydroxypalmitate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Electrophoretic variants are known for this locus in kidney. The a allele determines a slow anodally migrating band in all inbred strains tested; the b allele determines a fast band in M. m. castaneus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T A 11: 119,904,504 (GRCm39) D224V probably damaging Het
Abca4 C A 3: 121,935,381 (GRCm39) N1526K probably benign Het
Aif1 T A 17: 35,390,523 (GRCm39) K76* probably null Het
Arap2 A G 5: 62,779,253 (GRCm39) S1446P probably damaging Het
Cyb5rl A T 4: 106,941,325 (GRCm39) E250V possibly damaging Het
Dock3 T C 9: 106,788,447 (GRCm39) probably benign Het
Dppa2 A G 16: 48,132,028 (GRCm39) T42A possibly damaging Het
Drosha C T 15: 12,859,478 (GRCm39) P562L probably benign Het
Egfl7 C A 2: 26,480,719 (GRCm39) H126N probably benign Het
Gm5852 T C 3: 93,634,584 (GRCm39) noncoding transcript Het
Gpr161 T C 1: 165,138,098 (GRCm39) F228S probably damaging Het
Grid1 T A 14: 34,667,722 (GRCm39) M83K probably damaging Het
Gsdma2 T C 11: 98,548,549 (GRCm39) S434P unknown Het
Hsd17b14 A T 7: 45,215,617 (GRCm39) I206F possibly damaging Het
Kansl1l A T 1: 66,774,825 (GRCm39) V667E probably damaging Het
Kdm3a T C 6: 71,588,659 (GRCm39) D450G probably benign Het
Lmo7 C A 14: 102,137,944 (GRCm39) A882E probably benign Het
P4ha3 A G 7: 99,949,893 (GRCm39) Y254C probably damaging Het
Pcdh15 A G 10: 74,152,904 (GRCm39) Y408C probably damaging Het
Pglyrp3 T C 3: 91,933,834 (GRCm39) Y160H probably damaging Het
Pnma5 G A X: 72,079,605 (GRCm39) T359I probably benign Het
Ptbp3 A T 4: 59,476,937 (GRCm39) H440Q possibly damaging Het
Rbx1 A G 15: 81,352,399 (GRCm39) N41S probably damaging Het
Rpl3 G A 15: 79,962,560 (GRCm39) T340I probably benign Het
Scrn1 G A 6: 54,525,322 (GRCm39) R16* probably null Het
Sema6a A T 18: 47,433,157 (GRCm39) C91* probably null Het
Slco6d1 T A 1: 98,394,405 (GRCm39) V363E probably damaging Het
Stk38 A G 17: 29,203,179 (GRCm39) probably benign Het
Tanc2 G A 11: 105,803,918 (GRCm39) probably null Het
Thada A G 17: 84,742,988 (GRCm39) F812S probably benign Het
Tubb4b-ps1 A G 5: 7,229,630 (GRCm39) probably benign Het
Veph1 T C 3: 66,162,443 (GRCm39) T72A probably damaging Het
Vps52 T A 17: 34,176,848 (GRCm39) D67E probably damaging Het
Other mutations in Hao2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01933:Hao2 APN 3 98,787,648 (GRCm39) splice site probably benign
goatherd UTSW 3 98,784,451 (GRCm39) missense probably benign 0.06
R0600:Hao2 UTSW 3 98,790,876 (GRCm39) splice site probably benign
R1298:Hao2 UTSW 3 98,790,985 (GRCm39) missense possibly damaging 0.94
R3176:Hao2 UTSW 3 98,787,644 (GRCm39) splice site probably benign
R3177:Hao2 UTSW 3 98,787,644 (GRCm39) splice site probably benign
R3786:Hao2 UTSW 3 98,784,068 (GRCm39) missense probably damaging 1.00
R4486:Hao2 UTSW 3 98,789,341 (GRCm39) missense probably damaging 1.00
R4487:Hao2 UTSW 3 98,789,341 (GRCm39) missense probably damaging 1.00
R4488:Hao2 UTSW 3 98,789,341 (GRCm39) missense probably damaging 1.00
R5290:Hao2 UTSW 3 98,784,493 (GRCm39) missense probably damaging 0.99
R5760:Hao2 UTSW 3 98,787,748 (GRCm39) nonsense probably null
R6129:Hao2 UTSW 3 98,787,842 (GRCm39) missense probably benign 0.00
R6720:Hao2 UTSW 3 98,784,451 (GRCm39) missense probably benign 0.06
R6861:Hao2 UTSW 3 98,784,498 (GRCm39) missense probably damaging 1.00
R6991:Hao2 UTSW 3 98,784,068 (GRCm39) missense probably damaging 1.00
R7203:Hao2 UTSW 3 98,784,598 (GRCm39) splice site probably null
R8277:Hao2 UTSW 3 98,787,700 (GRCm39) missense probably damaging 1.00
R8515:Hao2 UTSW 3 98,790,963 (GRCm39) missense probably benign 0.00
R8848:Hao2 UTSW 3 98,784,528 (GRCm39) missense probably damaging 1.00
R9335:Hao2 UTSW 3 98,791,010 (GRCm39) missense possibly damaging 0.77
R9497:Hao2 UTSW 3 98,784,462 (GRCm39) missense probably damaging 1.00
Z1088:Hao2 UTSW 3 98,782,668 (GRCm39) missense probably damaging 1.00
Z1177:Hao2 UTSW 3 98,789,357 (GRCm39) missense probably damaging 0.98
Z1177:Hao2 UTSW 3 98,789,258 (GRCm39) missense probably benign 0.02
Posted On 2016-08-02