Incidental Mutation 'IGL00954:Hao1'
ID26958
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: 0.057) question?
Stock #IGL00954
Quality Score
Status
Chromosome2
Chromosomal Location134497361-134554368 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 134498261 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 370 (I370T)
Ref Sequence ENSEMBL: ENSMUSP00000028704 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028704]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028704
AA Change: I370T

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000028704
Gene: ENSMUSG00000027261
AA Change: I370T

DomainStartEndE-ValueType
Pfam:FMN_dh 15 362 9.1e-140 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 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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 C T 18: 61,839,685 probably benign Het
Alox5 A T 6: 116,454,299 V56D probably damaging Het
Atp1a2 A G 1: 172,290,634 S158P probably damaging Het
B3glct T A 5: 149,696,437 M19K probably benign Het
BC049715 A T 6: 136,840,095 E111V possibly damaging Het
Casp8ap2 C A 4: 32,645,403 T1492K probably damaging Het
Cfap221 T C 1: 119,934,209 E612G probably damaging Het
Cttnbp2 C A 6: 18,381,062 K868N possibly damaging Het
Dpy19l2 T A 9: 24,582,818 N672I probably damaging Het
Ei24 A T 9: 36,789,870 I51N probably damaging Het
Gdi2 T C 13: 3,556,467 V181A probably benign Het
Ggt1 G A 10: 75,584,863 R354Q probably benign Het
H2afy A G 13: 56,074,319 S340P possibly damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Jag2 G T 12: 112,920,406 S184R possibly damaging Het
Kctd16 A G 18: 40,258,800 D147G probably benign Het
Kiss1r T C 10: 79,922,000 L396P probably damaging Het
Krt86 C T 15: 101,473,860 H104Y probably benign Het
Lrrc66 G T 5: 73,608,398 T434K possibly damaging Het
Mcm5 A T 8: 75,110,112 N64Y possibly damaging Het
Mroh2b A T 15: 4,903,054 Y54F probably damaging Het
Olfr122 T A 17: 37,772,614 N329K probably benign Het
Olfr830 T A 9: 18,876,073 S249T probably benign Het
Osgep T A 14: 50,916,162 I320F probably benign Het
Pcdh18 T A 3: 49,756,389 D159V probably damaging Het
Phf20l1 G A 15: 66,641,908 V978I probably damaging Het
Phospho1 T A 11: 95,831,083 V193E probably damaging Het
Pip4k2b T C 11: 97,744,505 K34E probably damaging Het
Plb1 T C 5: 32,298,514 probably benign Het
Safb2 A G 17: 56,578,639 probably null Het
Sgsh T A 11: 119,346,485 E434D probably benign Het
Tkt C T 14: 30,569,095 H355Y probably damaging Het
Tmem128 A G 5: 38,262,045 N47S probably damaging Het
Tmem232 A G 17: 65,500,153 I15T probably damaging Het
Tns1 A C 1: 73,924,969 V1501G probably damaging Het
Vmn2r24 G A 6: 123,815,637 C641Y probably damaging Het
Vmn2r77 A G 7: 86,800,767 T74A probably benign Het
Zfp820 T C 17: 21,819,879 Y156C probably damaging Het
Other mutations in Hao1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Hao1 APN 2 134554270 missense probably damaging 0.99
IGL00886:Hao1 APN 2 134523159 missense probably benign 0.00
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 On2013-04-17