Incidental Mutation 'R2054:Hao1'
ID 271608
Institutional Source Beutler Lab
Gene Symbol Hao1
Ensembl Gene ENSMUSG00000027261
Gene Name hydroxyacid oxidase 1, liver
Synonyms Gox1, Hao-1, GOX
MMRRC Submission 040059-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R2054 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 134339281-134396272 bp(-) (GRCm39)
Type of Mutation synonymous
DNA Base Change (assembly) C to T at 134340178 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000028704 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028704]
AlphaFold Q9WU19
Predicted Effect silent
Transcript: ENSMUST00000028704
SMART Domains Protein: ENSMUSP00000028704
Gene: ENSMUSG00000027261

DomainStartEndE-ValueType
Pfam:FMN_dh 15 362 9.1e-140 PFAM
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 99% (67/68)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik A T 11: 99,728,562 (GRCm39) C94S possibly damaging Het
A930011G23Rik T C 5: 99,375,914 (GRCm39) Y432C probably benign Het
Abtb2 A G 2: 103,535,462 (GRCm39) D543G probably benign Het
Adam9 A T 8: 25,481,310 (GRCm39) V318E probably damaging Het
Aim2 T C 1: 173,291,548 (GRCm39) F318L probably damaging Het
Apob A T 12: 8,063,134 (GRCm39) D3872V probably damaging Het
Atat1 T A 17: 36,212,261 (GRCm39) R323W probably null Het
Atp2b4 T C 1: 133,642,907 (GRCm39) D1066G probably benign Het
Bltp1 A G 3: 37,002,002 (GRCm39) T1316A probably benign Het
Caskin2 T C 11: 115,697,127 (GRCm39) probably benign Het
Cblif G A 19: 11,736,370 (GRCm39) V314I probably benign Het
Ccdc54 T A 16: 50,410,987 (GRCm39) N93I probably damaging Het
Ccnd1 A C 7: 144,491,128 (GRCm39) D159E possibly damaging Het
Cnot1 A C 8: 96,466,469 (GRCm39) S1589R possibly damaging Het
Copa T A 1: 171,946,524 (GRCm39) Y980* probably null Het
Defb19 A G 2: 152,418,090 (GRCm39) I82T possibly damaging Het
Elapor2 C A 5: 9,513,030 (GRCm39) T1008K possibly damaging Het
Fiz1 G A 7: 5,011,235 (GRCm39) R428C probably damaging Het
Fnip2 A T 3: 79,479,772 (GRCm39) probably benign Het
Gabrb3 G A 7: 57,474,241 (GRCm39) G408S probably benign Het
Hecw1 T A 13: 14,471,998 (GRCm39) M557L probably damaging Het
Itch A T 2: 155,052,496 (GRCm39) I699F probably damaging Het
Kmt2a T C 9: 44,734,671 (GRCm39) probably benign Het
Leng8 T G 7: 4,147,289 (GRCm39) Y562* probably null Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Lrp1b A T 2: 40,587,494 (GRCm39) N151K unknown Het
Lrrc71 T C 3: 87,649,980 (GRCm39) E316G probably damaging Het
Mgat5 A G 1: 127,325,344 (GRCm39) N404D probably damaging Het
Mrps26 C A 2: 130,406,087 (GRCm39) T100K probably benign Het
Mtor A G 4: 148,547,309 (GRCm39) T431A probably benign Het
Mtor T A 4: 148,550,482 (GRCm39) C713S probably benign Het
Mug2 A G 6: 122,054,451 (GRCm39) K1077E probably damaging Het
Nbas A G 12: 13,524,207 (GRCm39) T1688A probably benign Het
Nek2 T C 1: 191,553,764 (GRCm39) S3P possibly damaging Het
Nell2 T C 15: 95,332,990 (GRCm39) T190A probably benign Het
Npr2 A T 4: 43,646,560 (GRCm39) N636I probably damaging Het
Orc3 A T 4: 34,584,846 (GRCm39) I453K probably damaging Het
Pcnx1 A G 12: 81,980,448 (GRCm39) H865R probably benign Het
Pex1 T C 5: 3,653,341 (GRCm39) V80A possibly damaging Het
Phka2 T A X: 159,337,323 (GRCm39) D424E probably damaging Het
Pkd1 C T 17: 24,793,770 (GRCm39) T1819I probably benign Het
Poglut1 T C 16: 38,355,169 (GRCm39) D219G probably damaging Het
Ppargc1a T C 5: 51,631,130 (GRCm39) I500V possibly damaging Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Pygm C G 19: 6,438,185 (GRCm39) N163K probably benign Het
Qrich1 T A 9: 108,436,469 (GRCm39) N722K possibly damaging Het
Reep6 T A 10: 80,166,156 (GRCm39) C104* probably null Het
Rfx8 A G 1: 39,724,719 (GRCm39) V214A possibly damaging Het
Sis G A 3: 72,820,570 (GRCm39) T1398I probably benign Het
Skint5 A G 4: 113,676,360 (GRCm39) probably null Het
Slc7a14 A G 3: 31,291,511 (GRCm39) probably benign Het
Smc2 T A 4: 52,462,948 (GRCm39) M646K probably benign Het
Snx29 A G 16: 11,449,356 (GRCm39) N165S probably damaging Het
Supt6 T A 11: 78,115,187 (GRCm39) probably benign Het
Tead4 G T 6: 128,247,925 (GRCm39) S37R probably damaging Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tex56 T A 13: 35,108,574 (GRCm39) Y19N probably damaging Het
Tff2 T C 17: 31,362,199 (GRCm39) K40E probably benign Het
Traip C T 9: 107,840,118 (GRCm39) T265M probably benign Het
Trim47 T C 11: 115,999,109 (GRCm39) T256A probably benign Het
Trpm1 A G 7: 63,890,303 (GRCm39) M853V possibly damaging Het
Tti1 G T 2: 157,849,365 (GRCm39) Q625K possibly damaging Het
Ube2n A G 10: 95,377,128 (GRCm39) N31S probably damaging Het
Vmn2r17 T C 5: 109,600,352 (GRCm39) M550T probably damaging Het
Zfp512 T A 5: 31,622,793 (GRCm39) N31K probably benign Het
Zfp64 A G 2: 168,767,728 (GRCm39) V628A probably damaging Het
Other mutations in Hao1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Hao1 APN 2 134,396,190 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- GTTCCTAGGACACCCATTGAAAAG -3'
(R):5'- ATGCCACATAAGATTTGGCAAG -3'

Sequencing Primer
(F):5'- TAGGACACCCATTGAAAAGTCAAAAG -3'
(R):5'- CATAAGATTTGGCAAGCCTACC -3'
Posted On 2015-03-23