Mutagenetix > Incidental Mutation

Incidental Mutation 'R7920:Hao1'

648269

Institutional Source

Beutler Lab

Gene Symbol

Hao1

Ensembl Gene

ENSMUSG00000027261

Gene Name

hydroxyacid oxidase 1, liver

Synonyms

Gox1, Hao-1, GOX

MMRRC Submission

045967-MU

Accession Numbers

Essential gene?

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

Stock #

R7920 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134339281-134396272 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 134390172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 56 (N56Y)

Ref Sequence

ENSEMBL: ENSMUSP00000028704 (fasta)

Gene Model

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

AlphaFold

Q9WU19

Predicted Effect

probably damaging
Transcript: ENSMUST00000028704
AA Change: N56Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000028704
Gene: ENSMUSG00000027261
AA Change: N56Y

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: 99.7%
20x: 99.2%

Validation Efficiency

100% (63/63)

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024B05Rik	T	C	14: 41,818,130 (GRCm39)	S9P	probably damaging	Het
AI661453	A	T	17: 47,779,331 (GRCm39)	Q1019L	unknown	Het
Aldh1a1	T	A	19: 20,595,301 (GRCm39)	W77R	probably damaging	Het
Cc2d2a	T	C	5: 43,896,651 (GRCm39)	I1516T	probably benign	Het
Ccdc149	T	A	5: 52,562,436 (GRCm39)	I197F	probably damaging	Het
Cfap119	A	G	7: 127,187,125 (GRCm39)	M46T	probably benign	Het
Cfb	A	G	17: 35,079,867 (GRCm39)	V176A	probably benign	Het
Chordc1	A	G	9: 18,213,397 (GRCm39)	K83E	probably benign	Het
Cic	G	A	7: 24,971,384 (GRCm39)	V372M	probably benign	Het
Coq2	T	A	5: 100,811,741 (GRCm39)		probably benign	Het
Cradd	A	G	10: 95,158,573 (GRCm39)	L58P	probably damaging	Het
Crim1	A	T	17: 78,610,493 (GRCm39)	D316V	probably damaging	Het
Cyb5rl	C	A	4: 106,928,205 (GRCm39)	L114I	possibly damaging	Het
Cyp2c69	T	G	19: 39,866,247 (GRCm39)		probably null	Het
Ddhd1	A	G	14: 45,894,927 (GRCm39)	F181S	probably damaging	Het
Dennd1b	G	A	1: 138,990,611 (GRCm39)	E192K	probably damaging	Het
Dmrt1	T	C	19: 25,483,383 (GRCm39)	S56P	possibly damaging	Het
Dnah12	A	G	14: 26,578,499 (GRCm39)	E3086G	possibly damaging	Het
Dnah5	A	T	15: 28,453,368 (GRCm39)	M4380L	probably benign	Het
Dph7	A	T	2: 24,861,624 (GRCm39)	M346L	probably benign	Het
Eef1ece2	A	G	16: 20,456,442 (GRCm39)	E428G	possibly damaging	Het
Egf	C	T	3: 129,529,489 (GRCm39)	R307H	probably benign	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Fcna	T	C	2: 25,516,298 (GRCm39)	K112E	probably benign	Het
Fkbp5	A	T	17: 28,648,213 (GRCm39)	N125K	possibly damaging	Het
Foxo3	C	T	10: 42,073,765 (GRCm39)	V251I	possibly damaging	Het
Fryl	T	A	5: 73,259,150 (GRCm39)		probably null	Het
Fsip2	A	G	2: 82,781,365 (GRCm39)	E253G	possibly damaging	Het
Gprc6a	T	A	10: 51,491,026 (GRCm39)	T908S	probably benign	Het
Grin2c	A	T	11: 115,144,970 (GRCm39)	F560L	probably benign	Het
Haus3	T	C	5: 34,325,046 (GRCm39)	I204M	probably benign	Het
Htr3b	C	A	9: 48,848,456 (GRCm39)	C263F	probably damaging	Het
Ica1	A	T	6: 8,742,274 (GRCm39)	C120S	probably benign	Het
Inpp4a	T	A	1: 37,406,886 (GRCm39)	S210T	probably benign	Het
Inpp5d	T	G	1: 87,633,671 (GRCm39)	I699S	probably damaging	Het
Kcng1	A	G	2: 168,104,904 (GRCm39)	V314A	probably benign	Het
Lcn11	G	A	2: 25,669,343 (GRCm39)	V167M	possibly damaging	Het
Lingo3	C	A	10: 80,670,382 (GRCm39)	R516L	probably benign	Het
Lrmda	T	C	14: 22,646,546 (GRCm39)	V151A	probably damaging	Het
Ly6g5b	A	C	17: 35,333,578 (GRCm39)	I133R	probably damaging	Het
Mcidas	G	A	13: 113,135,521 (GRCm39)	G315S	probably damaging	Het
Miip	C	T	4: 147,947,375 (GRCm39)	G236S	probably benign	Het
Mroh7	T	C	4: 106,564,773 (GRCm39)	T562A	probably benign	Het
Nlrc4	A	G	17: 74,734,114 (GRCm39)	M933T	probably benign	Het
Or13a25	A	T	7: 140,247,814 (GRCm39)	S198C	possibly damaging	Het
Pkhd1	A	T	1: 20,345,759 (GRCm39)	D2756E	probably damaging	Het
Plekhm2	T	C	4: 141,359,432 (GRCm39)	D445G	probably damaging	Het
Ppp1r12c	C	T	7: 4,486,354 (GRCm39)	G605D	probably benign	Het
Pygb	T	A	2: 150,628,922 (GRCm39)	N45K	possibly damaging	Het
Scn4b	A	G	9: 45,058,069 (GRCm39)	T54A	probably damaging	Het
Scrt1	T	A	15: 76,403,417 (GRCm39)	H191L	unknown	Het
Sdc3	A	G	4: 130,546,507 (GRCm39)	M289V	probably benign	Het
Shb	C	T	4: 45,489,054 (GRCm39)		probably null	Het
Slc1a5	A	G	7: 16,527,795 (GRCm39)	T364A	probably damaging	Het
Slc25a27	A	G	17: 43,960,564 (GRCm39)	V218A	probably benign	Het
Slc39a4	C	T	15: 76,498,285 (GRCm39)	G384D	probably damaging	Het
Sptbn2	C	G	19: 4,799,040 (GRCm39)	R2037G	probably benign	Het
Styxl2	T	A	1: 165,927,465 (GRCm39)	N716Y	possibly damaging	Het
Tmem67	A	T	4: 12,089,284 (GRCm39)		probably null	Het
Tonsl	C	T	15: 76,518,787 (GRCm39)	R544H	probably damaging	Het
Trex1	A	G	9: 108,887,157 (GRCm39)	V278A	unknown	Het
Ttn	A	T	2: 76,625,501 (GRCm39)	D15107E	probably damaging	Het
Tubgcp5	A	G	7: 55,466,310 (GRCm39)	T621A	probably benign	Het
Zfhx4	T	C	3: 5,465,515 (GRCm39)	V1916A	possibly damaging	Het
Zfp260	A	T	7: 29,805,017 (GRCm39)	K306*	probably null	Het
Zkscan7	A	T	9: 122,724,974 (GRCm39)	T648S	probably benign	Het
Zscan4c	T	A	7: 10,743,699 (GRCm39)	F433I	possibly 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
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
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'- TCCTAGGAAGGGTGTTCGAG -3'
(R):5'- TCTTACAGAAGGAAGGTCCATACC -3'

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

Posted On

2020-09-15