Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01472:Hao1'

88295

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 #

IGL01472

Quality Score

Status

Chromosome

Chromosomal Location

134339281-134396272 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 134396150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 35 (E35K)

Ref Sequence

ENSEMBL: ENSMUSP00000028704 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028704]

AlphaFold

Q9WU19

Predicted Effect

probably benign
Transcript: ENSMUST00000028704
AA Change: E35K

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000028704
Gene: ENSMUSG00000027261
AA Change: E35K

Domain	Start	End	E-Value	Type
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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	G	A	7: 119,153,759 (GRCm39)		probably null	Het
Adamts4	T	C	1: 171,080,419 (GRCm39)	F324S	probably damaging	Het
Alg10b	T	A	15: 90,111,900 (GRCm39)	L248Q	possibly damaging	Het
Antxr2	T	A	5: 98,175,358 (GRCm39)	T90S	probably benign	Het
Arhgap21	C	T	2: 20,854,392 (GRCm39)	E1657K	probably damaging	Het
Atp13a5	T	G	16: 29,094,175 (GRCm39)	D803A	probably damaging	Het
Bzw2	T	C	12: 36,159,795 (GRCm39)	D185G	probably damaging	Het
Camta2	A	G	11: 70,574,950 (GRCm39)	S62P	probably damaging	Het
Cep85	T	C	4: 133,861,477 (GRCm39)	Q599R	possibly damaging	Het
Chsy3	G	A	18: 59,309,439 (GRCm39)	V231I	probably damaging	Het
Cnbd2	C	T	2: 156,217,268 (GRCm39)	R457W	probably damaging	Het
Col20a1	A	G	2: 180,649,625 (GRCm39)	T1036A	probably benign	Het
Colgalt2	T	C	1: 152,382,629 (GRCm39)	Y494H	probably damaging	Het
Cox15	G	T	19: 43,732,104 (GRCm39)	Y237*	probably null	Het
Cpne9	C	A	6: 113,269,983 (GRCm39)	S281Y	possibly damaging	Het
D830013O20Rik	G	A	12: 73,411,090 (GRCm39)		noncoding transcript	Het
Dnah5	C	T	15: 28,331,872 (GRCm39)	R2153C	probably damaging	Het
Fam228a	A	G	12: 4,765,610 (GRCm39)	I267T	possibly damaging	Het
Fat4	G	A	3: 38,942,219 (GRCm39)	A371T	probably damaging	Het
Gm1818	T	C	12: 48,603,072 (GRCm39)		noncoding transcript	Het
Gm5592	T	C	7: 40,935,498 (GRCm39)		probably benign	Het
Golga4	C	A	9: 118,361,642 (GRCm39)	L207I	probably damaging	Het
Gtf3c1	A	G	7: 125,250,226 (GRCm39)		probably benign	Het
Iqch	T	C	9: 63,455,216 (GRCm39)	I194V	probably benign	Het
Ism1	A	T	2: 139,599,223 (GRCm39)	T392S	probably damaging	Het
Lcmt1	A	G	7: 123,027,376 (GRCm39)	Y313C	probably damaging	Het
Loxl4	A	G	19: 42,585,988 (GRCm39)	C718R	probably damaging	Het
Lyar	T	G	5: 38,382,066 (GRCm39)	I16R	possibly damaging	Het
Map3k20	T	C	2: 72,185,897 (GRCm39)		probably benign	Het
Mtus1	T	C	8: 41,455,449 (GRCm39)	T941A	probably benign	Het
Myh8	A	G	11: 67,179,205 (GRCm39)		probably benign	Het
Myof	T	C	19: 37,911,524 (GRCm39)	D1482G	probably benign	Het
Nr4a3	C	A	4: 48,071,133 (GRCm39)	A534D	probably damaging	Het
Oas1c	A	G	5: 120,940,986 (GRCm39)	V269A	probably damaging	Het
Odf2	T	A	2: 29,783,071 (GRCm39)	S5T	probably damaging	Het
Or5d36	T	A	2: 87,901,322 (GRCm39)	T135S	possibly damaging	Het
Or5p4	T	C	7: 107,680,411 (GRCm39)	S137P	probably benign	Het
Or9s27	T	A	1: 92,516,694 (GRCm39)	M214K	possibly damaging	Het
Pbk	A	G	14: 66,054,159 (GRCm39)	T235A	probably benign	Het
Phrf1	T	C	7: 140,836,403 (GRCm39)		probably benign	Het
Prkci	A	G	3: 31,104,341 (GRCm39)	D568G	probably damaging	Het
Prom2	T	A	2: 127,374,802 (GRCm39)	Y578F	probably benign	Het
Prph	T	C	15: 98,956,474 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,502,593 (GRCm39)	V3527A	probably benign	Het
Scn10a	C	T	9: 119,446,829 (GRCm39)	V1400I	probably damaging	Het
Slc10a2	A	G	8: 5,141,652 (GRCm39)	L244P	probably damaging	Het
Tardbp	A	G	4: 148,706,521 (GRCm39)	V96A	probably benign	Het
Tbc1d4	C	A	14: 101,727,300 (GRCm39)	E504*	probably null	Het
Tmed3	T	C	9: 89,584,928 (GRCm39)	E109G	probably benign	Het
Tnc	C	T	4: 63,924,656 (GRCm39)	R1014H	probably benign	Het
Tpcn2	C	T	7: 144,821,115 (GRCm39)	R313Q	probably damaging	Het
Trim45	A	G	3: 100,835,381 (GRCm39)	T455A	probably benign	Het
Txlna	A	G	4: 129,525,908 (GRCm39)	I313T	probably damaging	Het
Vmn1r202	A	T	13: 22,686,159 (GRCm39)	I86K	possibly damaging	Het
Vmn2r14	C	A	5: 109,364,180 (GRCm39)	E579*	probably null	Het
Wrn	T	A	8: 33,819,200 (GRCm39)	I8F	possibly damaging	Het
Zc3h18	A	G	8: 123,143,396 (GRCm39)		probably benign	Het
Zfyve26	A	T	12: 79,323,117 (GRCm39)	H876Q	probably benign	Het
Znrf2	C	T	6: 54,840,957 (GRCm39)	T177I	probably damaging	Het

Other mutations in Hao1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

2013-11-18