Incidental Mutation 'IGL00465:Hao1'
ID332138
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hao1
Ensembl Gene ENSMUSG00000027261
Gene Namehydroxyacid oxidase 1, liver
SynonymsGOX, Gox1, Hao-1
Accession Numbers

Genbank: NM_010403; MGI: 96011

Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #IGL00465
Quality Score
Status
Chromosome2
Chromosomal Location134497361-134554368 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 134554270 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 21 (K21N)
Ref Sequence ENSEMBL: ENSMUSP00000028704 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028704]
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
5830411N06Rik A G 7: 140,294,842 Y411C probably damaging Het
A1bg A T 15: 60,921,253 S2T probably damaging Het
Adamts13 T A 2: 26,973,555 W7R probably benign Het
Anks6 T A 4: 47,046,054 D279V probably damaging Het
C4bp A T 1: 130,639,134 L335Q probably damaging Het
Cd109 A T 9: 78,660,934 K299* probably null Het
Cd200r2 A T 16: 44,909,288 H102L probably damaging Het
Col12a1 A G 9: 79,697,581 Y662H probably damaging Het
Cyp2c37 T C 19: 40,001,997 F380L probably benign Het
Deup1 A G 9: 15,561,370 S549P probably damaging Het
Dysf G T 6: 84,199,848 probably null Het
Etaa1 A T 11: 17,947,825 C166* probably null Het
Fam227b T C 2: 126,144,325 probably null Het
Gucy1b2 T G 14: 62,403,200 Q752P probably benign Het
Hal T C 10: 93,490,069 probably null Het
Itga4 T C 2: 79,292,050 F536L probably benign Het
Lmod3 A T 6: 97,247,861 I333N probably damaging Het
Mgme1 T A 2: 144,279,516 D297E probably damaging Het
Myh2 G T 11: 67,178,833 probably benign Het
Myo7a A G 7: 98,102,626 M70T probably damaging Het
Nav3 T C 10: 109,852,746 T557A probably damaging Het
Nif3l1 C A 1: 58,455,686 H271Q possibly damaging Het
Nostrin A G 2: 69,185,554 probably benign Het
Nxn C A 11: 76,274,655 probably benign Het
Pcdhb22 A T 18: 37,520,132 D551V probably damaging Het
Pde4d A G 13: 109,936,687 D339G possibly damaging Het
Pkp4 T A 2: 59,338,755 S408T probably damaging Het
Pxmp2 T C 5: 110,283,716 T54A probably benign Het
Rif1 T A 2: 52,121,007 V2362E probably damaging Het
Rps6kl1 A G 12: 85,139,429 S276P probably benign Het
Scaf4 C A 16: 90,247,281 M601I unknown Het
Setd7 T A 3: 51,550,308 T33S probably benign Het
Shroom1 T A 11: 53,464,094 D280E probably benign Het
Slc35f2 G T 9: 53,798,014 probably null Het
Slitrk3 T A 3: 73,051,103 N112I probably damaging Het
Spag1 A G 15: 36,183,821 probably benign Het
Stx6 C T 1: 155,201,933 probably benign Het
Sun1 A T 5: 139,234,685 probably null Het
Tbl1xr1 G A 3: 22,192,268 probably null Het
Tmc2 T C 2: 130,261,304 S787P possibly damaging Het
Traf3ip3 C T 1: 193,194,820 probably benign Het
Trip12 T G 1: 84,763,861 H559P probably damaging Het
Trpm1 G T 7: 64,247,467 M272I possibly damaging Het
Ttc21b T C 2: 66,242,775 E189G probably benign Het
Tubd1 T C 11: 86,555,068 probably benign Het
Vps13a T A 19: 16,752,175 T167S probably damaging Het
Zbtb3 A G 19: 8,803,665 D214G possibly damaging Het
Zfp658 A G 7: 43,567,356 D50G probably benign Het
Zfp976 T A 7: 42,613,685 I243L unknown Het
Other mutations in Hao1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00886:Hao1 APN 2 134523159 missense probably benign 0.00
IGL00954:Hao1 APN 2 134498261 missense possibly damaging 0.87
IGL01472:Hao1 APN 2 134554230 missense probably benign 0.04
IGL01570:Hao1 APN 2 134554200 missense probably damaging 0.97
3-1:Hao1 UTSW 2 134500996 critical splice donor site probably null
R0928:Hao1 UTSW 2 134505616 missense possibly damaging 0.54
R0948:Hao1 UTSW 2 134530773 missense probably damaging 1.00
R1204:Hao1 UTSW 2 134523027 nonsense probably null
R1748:Hao1 UTSW 2 134498318 missense possibly damaging 0.67
R1827:Hao1 UTSW 2 134530664 missense probably benign 0.09
R1828:Hao1 UTSW 2 134530664 missense probably benign 0.09
R1917:Hao1 UTSW 2 134523060 missense probably benign 0.02
R2054:Hao1 UTSW 2 134498258 synonymous silent
R2070:Hao1 UTSW 2 134530615 missense probably damaging 1.00
R3831:Hao1 UTSW 2 134523005 missense probably damaging 1.00
R3833:Hao1 UTSW 2 134523005 missense probably damaging 1.00
R3960:Hao1 UTSW 2 134522983 critical splice donor site probably null
R4509:Hao1 UTSW 2 134523044 missense probably damaging 0.99
R4635:Hao1 UTSW 2 134523152 missense probably damaging 1.00
R4662:Hao1 UTSW 2 134523027 nonsense probably null
R4716:Hao1 UTSW 2 134505620 missense probably damaging 1.00
R6161:Hao1 UTSW 2 134505625 missense probably benign 0.06
R6374:Hao1 UTSW 2 134523104 missense probably benign 0.14
R6799:Hao1 UTSW 2 134530765 missense probably damaging 1.00
R6876:Hao1 UTSW 2 134501149 missense probably benign 0.00
R7305:Hao1 UTSW 2 134548201 missense probably benign 0.00
R7554:Hao1 UTSW 2 134530618 missense possibly damaging 0.78
R7585:Hao1 UTSW 2 134501156 missense probably damaging 1.00
R7920:Hao1 UTSW 2 134548252 missense probably damaging 1.00
R8528:Hao1 UTSW 2 134522993 missense probably damaging 1.00
Posted On2015-08-05