Incidental Mutation 'IGL00465:Hao1'
ID 332138
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hao1
Ensembl Gene ENSMUSG00000027261
Gene Name hydroxyacid oxidase 1, liver
Synonyms Gox1, Hao-1, GOX
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # IGL00465
Quality Score
Status
Chromosome 2
Chromosomal Location 134339281-134396272 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 134396190 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 21 (K21N)
Ref Sequence ENSEMBL: ENSMUSP00000028704 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028704]
AlphaFold Q9WU19
Predicted Effect probably damaging
Transcript: ENSMUST00000028704
AA Change: K21N

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028704
Gene: ENSMUSG00000027261
AA Change: K21N

DomainStartEndE-ValueType
Pfam:FMN_dh 15 362 9.1e-140 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140794
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 yet differ in encoded protein amino acid sequence, tissue expression and substrate preference. Subcellular location of the encoded protein is the peroxisome. Specifically, this gene is expressed primarily in liver and pancreas and the encoded protein is most active on glycolate, a two-carbon substrate. The protein is also active on 2-hydroxy fatty acids. The transcript detected at high levels in pancreas may represent an alternatively spliced form or the use of a multiple near-consensus upstream polyadenylation site. [provided by RefSeq, Jul 2008]
PHENOTYPE: Electrophoretic variants are known for this locus. The a allele determines a fast migrating band in BALB/c, CBA/H, C3H/He and C57BL/6; the b allele, a slow band in NZC; the c allele, the fastest band in DBA/Li, NFS/N, STS, 101/H and 129. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted, other(2) Gene trapped(1)

Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg A T 15: 60,793,102 (GRCm39) S2T probably damaging Het
Adamts13 T A 2: 26,863,567 (GRCm39) W7R probably benign Het
Anks6 T A 4: 47,046,054 (GRCm39) D279V probably damaging Het
C4bp A T 1: 130,566,871 (GRCm39) L335Q probably damaging Het
Cd109 A T 9: 78,568,216 (GRCm39) K299* probably null Het
Cd200r2 A T 16: 44,729,651 (GRCm39) H102L probably damaging Het
Col12a1 A G 9: 79,604,863 (GRCm39) Y662H probably damaging Het
Cyp2c37 T C 19: 39,990,441 (GRCm39) F380L probably benign Het
Deup1 A G 9: 15,472,666 (GRCm39) S549P probably damaging Het
Dysf G T 6: 84,176,830 (GRCm39) probably null Het
Etaa1 A T 11: 17,897,825 (GRCm39) C166* probably null Het
Fam227b T C 2: 125,986,245 (GRCm39) probably null Het
Gucy1b2 T G 14: 62,640,649 (GRCm39) Q752P probably benign Het
Hal T C 10: 93,325,931 (GRCm39) probably null Het
Itga4 T C 2: 79,122,394 (GRCm39) F536L probably benign Het
Lmod3 A T 6: 97,224,822 (GRCm39) I333N probably damaging Het
Mgme1 T A 2: 144,121,436 (GRCm39) D297E probably damaging Het
Myh2 G T 11: 67,069,659 (GRCm39) probably benign Het
Myo7a A G 7: 97,751,833 (GRCm39) M70T probably damaging Het
Nav3 T C 10: 109,688,607 (GRCm39) T557A probably damaging Het
Nif3l1 C A 1: 58,494,845 (GRCm39) H271Q possibly damaging Het
Nostrin A G 2: 69,015,898 (GRCm39) probably benign Het
Nxn C A 11: 76,165,481 (GRCm39) probably benign Het
Pcdhb22 A T 18: 37,653,185 (GRCm39) D551V probably damaging Het
Pde4d A G 13: 110,073,221 (GRCm39) D339G possibly damaging Het
Pkp4 T A 2: 59,169,099 (GRCm39) S408T probably damaging Het
Pxmp2 T C 5: 110,431,582 (GRCm39) T54A probably benign Het
Rif1 T A 2: 52,011,019 (GRCm39) V2362E probably damaging Het
Rps6kl1 A G 12: 85,186,203 (GRCm39) S276P probably benign Het
Scaf4 C A 16: 90,044,169 (GRCm39) M601I unknown Het
Scart2 A G 7: 139,874,755 (GRCm39) Y411C probably damaging Het
Setd7 T A 3: 51,457,729 (GRCm39) T33S probably benign Het
Shroom1 T A 11: 53,354,921 (GRCm39) D280E probably benign Het
Slc35f2 G T 9: 53,705,298 (GRCm39) probably null Het
Slitrk3 T A 3: 72,958,436 (GRCm39) N112I probably damaging Het
Spag1 A G 15: 36,183,967 (GRCm39) probably benign Het
Stx6 C T 1: 155,077,679 (GRCm39) probably benign Het
Sun1 A T 5: 139,220,440 (GRCm39) probably null Het
Tbl1xr1 G A 3: 22,246,432 (GRCm39) probably null Het
Tmc2 T C 2: 130,103,224 (GRCm39) S787P possibly damaging Het
Traf3ip3 C T 1: 192,877,128 (GRCm39) probably benign Het
Trip12 T G 1: 84,741,582 (GRCm39) H559P probably damaging Het
Trpm1 G T 7: 63,897,215 (GRCm39) M272I possibly damaging Het
Ttc21b T C 2: 66,073,119 (GRCm39) E189G probably benign Het
Tubd1 T C 11: 86,445,894 (GRCm39) probably benign Het
Vps13a T A 19: 16,729,539 (GRCm39) T167S probably damaging Het
Zbtb3 A G 19: 8,781,029 (GRCm39) D214G possibly damaging Het
Zfp658 A G 7: 43,216,780 (GRCm39) D50G probably benign Het
Zfp976 T A 7: 42,263,109 (GRCm39) I243L unknown Het
Other mutations in Hao1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00886:Hao1 APN 2 134,365,079 (GRCm39) missense probably benign 0.00
IGL00954:Hao1 APN 2 134,340,181 (GRCm39) missense possibly damaging 0.87
IGL01472:Hao1 APN 2 134,396,150 (GRCm39) missense probably benign 0.04
IGL01570:Hao1 APN 2 134,396,120 (GRCm39) missense probably damaging 0.97
3-1:Hao1 UTSW 2 134,342,916 (GRCm39) critical splice donor site probably null
R0928:Hao1 UTSW 2 134,347,536 (GRCm39) missense possibly damaging 0.54
R0948:Hao1 UTSW 2 134,372,693 (GRCm39) missense probably damaging 1.00
R1204:Hao1 UTSW 2 134,364,947 (GRCm39) nonsense probably null
R1748:Hao1 UTSW 2 134,340,238 (GRCm39) missense possibly damaging 0.67
R1827:Hao1 UTSW 2 134,372,584 (GRCm39) missense probably benign 0.09
R1828:Hao1 UTSW 2 134,372,584 (GRCm39) missense probably benign 0.09
R1917:Hao1 UTSW 2 134,364,980 (GRCm39) missense probably benign 0.02
R2054:Hao1 UTSW 2 134,340,178 (GRCm39) synonymous silent
R2070:Hao1 UTSW 2 134,372,535 (GRCm39) missense probably damaging 1.00
R3831:Hao1 UTSW 2 134,364,925 (GRCm39) missense probably damaging 1.00
R3833:Hao1 UTSW 2 134,364,925 (GRCm39) missense probably damaging 1.00
R3960:Hao1 UTSW 2 134,364,903 (GRCm39) critical splice donor site probably null
R4509:Hao1 UTSW 2 134,364,964 (GRCm39) missense probably damaging 0.99
R4635:Hao1 UTSW 2 134,365,072 (GRCm39) missense probably damaging 1.00
R4662:Hao1 UTSW 2 134,364,947 (GRCm39) nonsense probably null
R4716:Hao1 UTSW 2 134,347,540 (GRCm39) missense probably damaging 1.00
R6161:Hao1 UTSW 2 134,347,545 (GRCm39) missense probably benign 0.06
R6374:Hao1 UTSW 2 134,365,024 (GRCm39) missense probably benign 0.14
R6799:Hao1 UTSW 2 134,372,685 (GRCm39) missense probably damaging 1.00
R6876:Hao1 UTSW 2 134,343,069 (GRCm39) missense probably benign 0.00
R7305:Hao1 UTSW 2 134,390,121 (GRCm39) missense probably benign 0.00
R7554:Hao1 UTSW 2 134,372,538 (GRCm39) missense possibly damaging 0.78
R7585:Hao1 UTSW 2 134,343,076 (GRCm39) missense probably damaging 1.00
R7920:Hao1 UTSW 2 134,390,172 (GRCm39) missense probably damaging 1.00
R8528:Hao1 UTSW 2 134,364,913 (GRCm39) missense probably damaging 1.00
R9426:Hao1 UTSW 2 134,347,555 (GRCm39) missense probably benign 0.00
R9475:Hao1 UTSW 2 134,390,181 (GRCm39) missense probably benign 0.00
R9479:Hao1 UTSW 2 134,396,204 (GRCm39) missense probably benign 0.00
R9792:Hao1 UTSW 2 134,372,552 (GRCm39) missense possibly damaging 0.70
R9793:Hao1 UTSW 2 134,372,552 (GRCm39) missense possibly damaging 0.70
R9795:Hao1 UTSW 2 134,372,552 (GRCm39) missense possibly damaging 0.70
Posted On 2015-08-05