Mutagenetix > Incidental Mutation

Incidental Mutation 'R9475:Hao1'

715685

Institutional Source

Beutler Lab

Gene Symbol

Hao1

Ensembl Gene

ENSMUSG00000027261

Gene Name

hydroxyacid oxidase 1, liver

Synonyms

Gox1, Hao-1, GOX

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9475 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

134339281-134396272 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 134390181 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 53 (M53L)

Ref Sequence

ENSEMBL: ENSMUSP00000028704 (fasta)

Gene Model

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

AlphaFold

Q9WU19

Predicted Effect

probably benign
Transcript: ENSMUST00000028704
AA Change: M53L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000028704
Gene: ENSMUSG00000027261
AA Change: M53L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

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
Abcc6	A	T	7: 45,665,892 (GRCm39)	W243R	probably damaging	Het
Ablim1	T	G	19: 57,227,612 (GRCm39)	K18Q	probably benign	Het
Adamts18	T	A	8: 114,504,570 (GRCm39)	N174Y	possibly damaging	Het
Afg2a	T	C	3: 37,486,058 (GRCm39)	V260A	probably benign	Het
Agbl2	A	G	2: 90,614,437 (GRCm39)	H23R	probably benign	Het
Akap6	T	G	12: 53,057,335 (GRCm39)	Y934D	probably damaging	Het
Alas1	C	T	9: 106,111,261 (GRCm39)	S635N	probably benign	Het
Ankrd24	A	G	10: 81,478,133 (GRCm39)		probably null	Het
Atp6v0a4	A	G	6: 38,037,917 (GRCm39)	L560P	probably damaging	Het
Cacng1	C	T	11: 107,607,118 (GRCm39)	V34M	possibly damaging	Het
Clcn3	C	T	8: 61,387,551 (GRCm39)	A233T	probably damaging	Het
Cntnap3	A	G	13: 64,946,949 (GRCm39)	F160S	probably damaging	Het
Ctnnd2	A	G	15: 30,881,276 (GRCm39)	S719G	probably damaging	Het
Exosc2	G	A	2: 31,564,755 (GRCm39)	V107I	probably benign	Het
Fam83b	C	A	9: 76,399,085 (GRCm39)	V673F	probably benign	Het
Fras1	T	C	5: 96,927,929 (GRCm39)	F3781L	probably damaging	Het
Gal3st1	T	A	11: 3,948,660 (GRCm39)	L289H	probably damaging	Het
Garem1	T	C	18: 21,281,370 (GRCm39)	I329V	probably benign	Het
Gli3	G	A	13: 15,900,296 (GRCm39)	G1228S	possibly damaging	Het
Gpbp1l1	T	C	4: 116,431,558 (GRCm39)	F72S	possibly damaging	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,193,999 (GRCm39)		probably benign	Het
Iqcm	A	G	8: 76,480,083 (GRCm39)	E347G	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kcnrg	A	G	14: 61,845,106 (GRCm39)	I49V	possibly damaging	Het
Lrrc8e	G	A	8: 4,285,346 (GRCm39)	G524S	probably benign	Het
Lrrn1	A	T	6: 107,545,261 (GRCm39)	Y353F	probably damaging	Het
Mdn1	A	G	4: 32,739,849 (GRCm39)	D3701G	possibly damaging	Het
Mtmr2	A	G	9: 13,716,767 (GRCm39)	T623A	probably benign	Het
Ndst4	C	A	3: 125,508,296 (GRCm39)	S287*	probably null	Het
Ntrk3	A	C	7: 77,952,480 (GRCm39)	M579R	probably benign	Het
Oas1a	G	A	5: 121,037,317 (GRCm39)	L237F	probably damaging	Het
Or2aj4	T	C	16: 19,385,270 (GRCm39)	D121G	probably benign	Het
Or5bw2	A	T	7: 6,573,818 (GRCm39)	Y276F	probably damaging	Het
Or7e166	T	C	9: 19,624,939 (GRCm39)	M272T	probably benign	Het
Paqr5	T	A	9: 61,863,507 (GRCm39)	I272F	probably damaging	Het
Pcdha11	T	A	18: 37,140,591 (GRCm39)	V740E	probably damaging	Het
Pdgfra	A	C	5: 75,328,588 (GRCm39)	N240T	possibly damaging	Het
Plbd2	G	A	5: 120,632,445 (GRCm39)	Q186*	probably null	Het
Plce1	G	A	19: 38,766,337 (GRCm39)	E2121K	possibly damaging	Het
Ppargc1a	C	A	5: 51,653,080 (GRCm39)	G161C	probably damaging	Het
Ptprk	T	C	10: 28,210,476 (GRCm39)	I166T	possibly damaging	Het
Rhox8	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	X: 36,966,991 (GRCm39)		probably benign	Het
Rpap2	T	A	5: 107,768,455 (GRCm39)	L431Q	probably damaging	Het
Rslcan18	T	A	13: 67,250,128 (GRCm39)	K160*	probably null	Het
Sema7a	T	C	9: 57,862,188 (GRCm39)	F180L	probably benign	Het
Sh2d3c	C	T	2: 32,643,039 (GRCm39)	L741F	probably damaging	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Skic2	A	T	17: 35,060,078 (GRCm39)	D897E	probably benign	Het
Skint6	C	T	4: 112,664,037 (GRCm39)		probably null	Het
Slc35f3	T	C	8: 127,108,993 (GRCm39)	S181P	probably damaging	Het
Slc4a9	A	T	18: 36,662,269 (GRCm39)	E127V	probably null	Het
Speg	C	T	1: 75,364,735 (GRCm39)	T372I	probably damaging	Het
Syce1l	A	G	8: 114,381,735 (GRCm39)	T204A	probably benign	Het
Tas2r138	T	A	6: 40,589,392 (GRCm39)	M285L	probably benign	Het
Tbc1d10a	G	C	11: 4,163,604 (GRCm39)	K285N	probably damaging	Het
Trim9	T	A	12: 70,393,228 (GRCm39)	M239L	probably benign	Het
Trp53bp1	A	G	2: 121,039,761 (GRCm39)	S1293P	probably benign	Het
Uaca	C	T	9: 60,779,498 (GRCm39)	T1295M	possibly damaging	Het
Ubald1	G	T	16: 4,693,433 (GRCm39)	Q161K	possibly damaging	Het
Ugt1a10	C	T	1: 88,143,982 (GRCm39)	R201C	probably damaging	Het
Vps45	T	G	3: 95,950,237 (GRCm39)	T231P	probably damaging	Het
Wdr17	A	T	8: 55,088,512 (GRCm39)	D1186E	probably benign	Het
Zfp534	G	A	4: 147,766,731 (GRCm39)	T8I	probably benign	Het
Zfp68	T	C	5: 138,605,517 (GRCm39)	N269D	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
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
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'- TCGAGAAGGAAGCCTCTCTTTG -3'
(R):5'- TCTTACAGAAGGAAGGTCCATAC -3'

Sequencing Primer
(F):5'- GAGAAGGAAGCCTCTCTTTGTCTCTC -3'
(R):5'- AGGCTGTCTACTGTAGGAATCCATC -3'

Posted On

2022-06-15