Incidental Mutation 'R6161:Hao1'
ID 489859
Institutional Source Beutler Lab
Gene Symbol Hao1
Ensembl Gene ENSMUSG00000027261
Gene Name hydroxyacid oxidase 1, liver
Synonyms Gox1, Hao-1, GOX
MMRRC Submission 044308-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R6161 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 134339281-134396272 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 134347545 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 253 (D253E)
Ref Sequence ENSEMBL: ENSMUSP00000028704 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028704]
AlphaFold Q9WU19
Predicted Effect probably benign
Transcript: ENSMUST00000028704
AA Change: D253E

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000028704
Gene: ENSMUSG00000027261
AA Change: D253E

DomainStartEndE-ValueType
Pfam:FMN_dh 15 362 9.1e-140 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.9%
Validation Efficiency 100% (54/54)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,139,934 (GRCm39) K1533M probably damaging Het
Aldh1l2 C T 10: 83,356,202 (GRCm39) V63I probably benign Het
Atr A G 9: 95,747,372 (GRCm39) H218R probably benign Het
Atxn7l1 T A 12: 33,408,662 (GRCm39) S275T possibly damaging Het
Cacna1c T C 6: 119,034,263 (GRCm39) K88R probably damaging Het
Ccl7 T C 11: 81,937,412 (GRCm39) Y49H probably damaging Het
Cers5 A G 15: 99,636,544 (GRCm39) probably null Het
Chuk T C 19: 44,071,076 (GRCm39) E543G probably damaging Het
Dip2c T C 13: 9,697,043 (GRCm39) V1318A probably damaging Het
Ercc5 A G 1: 44,206,512 (GRCm39) H475R probably benign Het
Fat3 A G 9: 16,288,818 (GRCm39) L235P probably damaging Het
Fbn1 A T 2: 125,211,721 (GRCm39) C892* probably null Het
Fbxw8 T C 5: 118,230,740 (GRCm39) T354A possibly damaging Het
Fsip2 A C 2: 82,817,601 (GRCm39) T4445P possibly damaging Het
Gpld1 A T 13: 25,155,397 (GRCm39) Q344L probably benign Het
Hmcn2 A G 2: 31,246,266 (GRCm39) D745G probably benign Het
Kcnt1 A G 2: 25,793,397 (GRCm39) T658A probably benign Het
Klhl35 A G 7: 99,122,544 (GRCm39) probably benign Het
Lnx2 C T 5: 146,978,836 (GRCm39) probably null Het
Map3k5 T C 10: 19,876,321 (GRCm39) V160A probably damaging Het
Masp2 A T 4: 148,698,469 (GRCm39) I517F possibly damaging Het
Mc4r A T 18: 66,992,251 (GRCm39) Y287* probably null Het
Mthfr A G 4: 148,126,211 (GRCm39) D94G probably benign Het
Muc16 A G 9: 18,559,114 (GRCm39) I2393T unknown Het
Mybbp1a G T 11: 72,336,838 (GRCm39) V557L probably damaging Het
Mycbp2 A T 14: 103,536,183 (GRCm39) W256R probably damaging Het
Nacad G A 11: 6,550,902 (GRCm39) S763L probably benign Het
Nebl A G 2: 17,735,641 (GRCm39) V11A probably benign Het
Notch1 A T 2: 26,358,743 (GRCm39) C1363S probably damaging Het
Nphp3 A G 9: 103,909,105 (GRCm39) N772D probably benign Het
Nqo2 G A 13: 34,163,634 (GRCm39) V98M probably damaging Het
Pak4 A G 7: 28,264,692 (GRCm39) I70T possibly damaging Het
Pbx2 A G 17: 34,812,574 (GRCm39) K2E probably damaging Het
Pikfyve A G 1: 65,255,202 (GRCm39) T352A probably benign Het
Polr1g G A 7: 19,091,558 (GRCm39) T183I possibly damaging Het
Pop1 T C 15: 34,526,456 (GRCm39) Y684H probably damaging Het
Rpa1 A G 11: 75,205,721 (GRCm39) V212A probably damaging Het
Rpap2 A G 5: 107,768,536 (GRCm39) E458G probably damaging Het
Sin3a T C 9: 57,002,708 (GRCm39) V200A possibly damaging Het
Sla T C 15: 66,654,447 (GRCm39) T280A probably null Het
Slc22a26 A T 19: 7,763,812 (GRCm39) I406K possibly damaging Het
Slc24a1 T C 9: 64,844,545 (GRCm39) N606S unknown Het
Slc39a10 G A 1: 46,866,567 (GRCm39) T443M probably damaging Het
Smg1 A T 7: 117,762,553 (GRCm39) probably benign Het
Sra1 G A 18: 36,803,336 (GRCm39) A9V probably damaging Het
Stard4 A G 18: 33,342,109 (GRCm39) V47A probably damaging Het
Stat4 A T 1: 52,113,836 (GRCm39) D182V possibly damaging Het
Syt1 A G 10: 108,467,668 (GRCm39) F210L probably damaging Het
Ube2q1 T A 3: 89,688,667 (GRCm39) probably null Het
Vmn1r159 C T 7: 22,542,612 (GRCm39) C140Y possibly damaging Het
Wnt8a T C 18: 34,678,599 (GRCm39) F138L possibly damaging Het
Zfp623 T A 15: 75,820,470 (GRCm39) D475E probably benign Het
Zfp646 C T 7: 127,477,897 (GRCm39) R25W 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
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
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'- TCTGCGATATCACATAGCACC -3'
(R):5'- CAGTTCTGTCACATAATTACATTGC -3'

Sequencing Primer
(F):5'- TAGCACCACACATTTTACCATAAGTG -3'
(R):5'- GGATGAAGAAACCAGTACTAATACTC -3'
Posted On 2017-10-10