Mutagenetix > Incidental Mutation

Incidental Mutation 'R4662:Hao1'

352915

Institutional Source

Beutler Lab

Gene Symbol

Hao1

Ensembl Gene

ENSMUSG00000027261

Gene Name

hydroxyacid oxidase 1, liver

Synonyms

Gox1, Hao-1, GOX

MMRRC Submission

042011-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R4662 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

134339281-134396272 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 134364947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 227 (R227*)

Ref Sequence

ENSEMBL: ENSMUSP00000028704 (fasta)

Gene Model

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

AlphaFold

Q9WU19

Predicted Effect

probably null
Transcript: ENSMUST00000028704
AA Change: R227*

SMART Domains

Protein: ENSMUSP00000028704
Gene: ENSMUSG00000027261
AA Change: R227*

Domain	Start	End	E-Value	Type
Pfam:FMN_dh	15	362	9.1e-140	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	T	6: 91,891,939 (GRCm39)	Q67L	probably benign	Het
Adam34l	T	A	8: 44,080,116 (GRCm39)	Y36F	probably benign	Het
Adrb1	A	G	19: 56,711,206 (GRCm39)	T135A	probably damaging	Het
Ark2n	T	A	18: 77,762,186 (GRCm39)	Q42L	probably benign	Het
Asxl2	G	T	12: 3,477,193 (GRCm39)	W13L	probably damaging	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Brsk1	T	C	7: 4,710,298 (GRCm39)	S436P	possibly damaging	Het
Calb2	A	G	8: 110,894,709 (GRCm39)	F21L	probably benign	Het
Camk2a	T	C	18: 61,074,411 (GRCm39)	Y39H	probably damaging	Het
Cavin2	T	C	1: 51,340,510 (GRCm39)	S396P	probably benign	Het
Cfdp1	A	G	8: 112,557,577 (GRCm39)	F188S	probably benign	Het
Chek2	T	A	5: 111,014,908 (GRCm39)	V459D	probably damaging	Het
Cldn8	G	A	16: 88,359,296 (GRCm39)	H210Y	probably benign	Het
Cobl	A	G	11: 12,203,672 (GRCm39)	V1003A	probably benign	Het
Ctsll3	A	G	13: 60,947,416 (GRCm39)	F257L	possibly damaging	Het
Dnajc13	A	C	9: 104,084,957 (GRCm39)	F819V	probably damaging	Het
Dram1	C	A	10: 88,161,246 (GRCm39)	V208L	probably damaging	Het
Dynlt1b	A	G	17: 6,699,279 (GRCm39)	T10A	probably benign	Het
Eml6	A	T	11: 29,727,390 (GRCm39)	V1244E	probably damaging	Het
Ethe1	G	A	7: 24,293,405 (GRCm39)	S17N	probably benign	Het
Foxi1	T	C	11: 34,157,578 (GRCm39)	D149G	probably damaging	Het
Fzd9	T	C	5: 135,278,475 (GRCm39)	E470G	probably damaging	Het
Ggnbp2	A	G	11: 84,753,072 (GRCm39)	F56L	probably damaging	Het
Hyal1	G	A	9: 107,456,420 (GRCm39)	R369H	probably damaging	Het
Jam2	G	A	16: 84,609,840 (GRCm39)	V151M	probably damaging	Het
Kcna2	T	A	3: 107,012,733 (GRCm39)	I438N	probably benign	Het
Lrp1	A	T	10: 127,388,054 (GRCm39)	C3331*	probably null	Het
Mcm9	T	C	10: 53,424,623 (GRCm39)	I656V	probably benign	Het
Mroh9	C	T	1: 162,883,162 (GRCm39)	C439Y	probably damaging	Het
N4bp2l2	T	C	5: 150,574,160 (GRCm39)	D85G	probably damaging	Het
Nr1h2	A	G	7: 44,199,855 (GRCm39)	Y355H	probably damaging	Het
Nr5a2	T	C	1: 136,868,167 (GRCm39)	I322V	probably benign	Het
Nup153	A	C	13: 46,840,750 (GRCm39)	L273V	possibly damaging	Het
Obscn	A	G	11: 58,890,422 (GRCm39)	L7370P	unknown	Het
Or1a1	T	C	11: 74,086,542 (GRCm39)	I71T	probably damaging	Het
Or4b1	T	A	2: 89,980,222 (GRCm39)	I43F	probably damaging	Het
Or5k15	A	G	16: 58,710,287 (GRCm39)	C99R	probably damaging	Het
Prkdc	G	A	16: 15,551,916 (GRCm39)	D2041N	probably damaging	Het
Ptdss1	A	G	13: 67,081,675 (GRCm39)	D35G	possibly damaging	Het
Ptprs	G	T	17: 56,724,666 (GRCm39)	T1118K	probably damaging	Het
Pygb	C	T	2: 150,657,036 (GRCm39)	T329I	probably benign	Het
Rhoh	T	A	5: 66,050,157 (GRCm39)	D142E	probably benign	Het
Saraf	C	A	8: 34,635,616 (GRCm39)	A306E	probably damaging	Het
Scn1a	T	C	2: 66,181,332 (GRCm39)	I64V	probably benign	Het
Sec16a	A	G	2: 26,320,582 (GRCm39)	W1333R	probably damaging	Het
Shroom1	A	T	11: 53,357,289 (GRCm39)	T651S	possibly damaging	Het
Skint3	C	A	4: 112,134,863 (GRCm39)	Y345*	probably null	Het
Slc1a7	T	A	4: 107,864,751 (GRCm39)	N263K	probably damaging	Het
Sptbn2	C	T	19: 4,789,267 (GRCm39)	R1236C	probably damaging	Het
Tbx21	T	C	11: 96,992,393 (GRCm39)	N226S	probably benign	Het
Thada	A	G	17: 84,743,078 (GRCm39)	L782P	probably damaging	Het
Tle1	T	G	4: 72,055,335 (GRCm39)	I446L	possibly damaging	Het
Trgv1	T	A	13: 19,524,503 (GRCm39)	L76I	possibly damaging	Het
Triobp	A	G	15: 78,877,469 (GRCm39)	D1621G	probably damaging	Het
Trpm2	G	C	10: 77,773,972 (GRCm39)	A481G	probably benign	Het
Unc80	A	T	1: 66,685,595 (GRCm39)	M2240L	probably benign	Het
Usp9x	A	G	X: 12,989,747 (GRCm39)	R776G	possibly damaging	Homo
Vangl1	T	C	3: 102,074,238 (GRCm39)	T290A	probably benign	Het
Vmn1r233	T	A	17: 21,214,393 (GRCm39)	I186F	probably benign	Het
Vmn2r102	G	A	17: 19,901,424 (GRCm39)	C517Y	probably damaging	Het
Vrk2	G	A	11: 26,421,611 (GRCm39)	T449M	possibly damaging	Het
Zfp518a	A	G	19: 40,900,304 (GRCm39)	S78G	probably benign	Het
Zscan25	T	C	5: 145,223,120 (GRCm39)	S131P	unknown	Het
Zscan29	G	A	2: 120,997,096 (GRCm39)	T140I	probably benign	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
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
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'- TGTCCACAGTCAAGAGGTTTAC -3'
(R):5'- TGGCTGAGTACGTTACAGAAAG -3'

Sequencing Primer
(F):5'- TATAGTGACTCGCAAGTGCC -3'
(R):5'- TCACCAAGTCAGATATAAACTGTCTC -3'

Posted On

2015-10-08