Mutagenetix > Incidental Mutations

Incidental Mutation 'R1298:Hao2'

158203

Institutional Source

Beutler Lab

Gene Symbol

Hao2

Ensembl Gene

ENSMUSG00000027870

Gene Name

hydroxyacid oxidase 2

Synonyms

Hao3

MMRRC Submission

039364-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1298 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98874521-98893239 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 98883669 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 63 (T63K)

Ref Sequence

ENSEMBL: ENSMUSP00000029464 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029464]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029464
AA Change: T63K

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029464
Gene: ENSMUSG00000027870
AA Change: T63K

Domain	Start	End	E-Value	Type
Pfam:FMN_dh	13	350	1.8e-127	PFAM
Pfam:Glu_synthase	258	314	1.1e-6	PFAM

Meta Mutation Damage Score

0.3113

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.1%

Validation Efficiency

100% (38/38)

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. The encoded protein localizes to the peroxisome has the highest activity toward the substrate 2-hydroxypalmitate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Electrophoretic variants are known for this locus in kidney. The a allele determines a slow anodally migrating band in all inbred strains tested; the b allele determines a fast band in M. m. castaneus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox5	A	G	6: 116,427,264	W145R	probably damaging	Het
Aspm	T	A	1: 139,457,419	V267D	probably benign	Het
Bbs4	A	T	9: 59,339,813	W135R	probably damaging	Het
Cavin4	T	C	4: 48,672,593	V346A	probably benign	Het
Cdk18	A	C	1: 132,122,451		probably benign	Het
Cyp2j11	C	T	4: 96,307,260		probably null	Het
Dnah6	A	T	6: 73,159,135	I1007K	probably damaging	Het
Dnmt1	T	C	9: 20,941,456	E118G	probably benign	Het
Eef2	C	CN	10: 81,178,768		probably null	Het
Gm14496	T	C	2: 181,996,092	F320L	probably benign	Het
Gm2046	T	A	12: 87,980,083	D98E	probably benign	Het
Gsdmc3	A	T	15: 63,860,281	L299M	probably damaging	Het
H6pd	T	C	4: 149,982,514	I472V	probably benign	Het
Jag2	C	T	12: 112,916,319		probably benign	Het
Mapre3	A	G	5: 30,864,867	Y211C	probably damaging	Het
Mycbp2	A	G	14: 103,155,898	S2966P	probably damaging	Het
Nsd3	T	A	8: 25,679,936	V696E	possibly damaging	Het
Obscn	A	G	11: 59,054,897	Y4163H	possibly damaging	Het
Olfr1120	G	A	2: 87,358,070	A209T	probably benign	Het
Olfr747	A	T	14: 50,680,880	Y251*	probably null	Het
Olfr788	G	T	10: 129,473,064	C124F	probably damaging	Het
Pde2a	A	G	7: 101,507,202	E607G	probably benign	Het
Pinlyp	T	A	7: 24,544,966	D51V	probably damaging	Het
Rcbtb2	T	A	14: 73,162,388	I87N	probably damaging	Het
Sfswap	A	G	5: 129,541,378	I459V	probably benign	Het
Slitrk6	T	C	14: 110,751,865	N137D	possibly damaging	Het
Smg1	A	T	7: 118,168,211		probably benign	Het
Sobp	T	A	10: 43,022,335	H418L	probably damaging	Het
Spock1	A	C	13: 57,512,750	D180E	probably benign	Het
Upk3a	G	A	15: 85,020,551	V167I	probably benign	Het
Vmn1r180	T	C	7: 23,953,147	V245A	possibly damaging	Het
Zbtb25	T	C	12: 76,350,001	E149G	probably benign	Het
Zgrf1	T	C	3: 127,583,889	C44R	possibly damaging	Het

Other mutations in Hao2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01933:Hao2	APN	3	98880332	splice site	probably benign
IGL03279:Hao2	APN	3	98880396	missense	possibly damaging	0.88
goatherd	UTSW	3	98877135	missense	probably benign	0.06
R0600:Hao2	UTSW	3	98883560	splice site	probably benign
R3176:Hao2	UTSW	3	98880328	splice site	probably benign
R3177:Hao2	UTSW	3	98880328	splice site	probably benign
R3786:Hao2	UTSW	3	98876752	missense	probably damaging	1.00
R4486:Hao2	UTSW	3	98882025	missense	probably damaging	1.00
R4487:Hao2	UTSW	3	98882025	missense	probably damaging	1.00
R4488:Hao2	UTSW	3	98882025	missense	probably damaging	1.00
R5290:Hao2	UTSW	3	98877177	missense	probably damaging	0.99
R5760:Hao2	UTSW	3	98880432	nonsense	probably null
R6129:Hao2	UTSW	3	98880526	missense	probably benign	0.00
R6720:Hao2	UTSW	3	98877135	missense	probably benign	0.06
R6861:Hao2	UTSW	3	98877182	missense	probably damaging	1.00
R6991:Hao2	UTSW	3	98876752	missense	probably damaging	1.00
R7203:Hao2	UTSW	3	98877282	splice site	probably null
R8277:Hao2	UTSW	3	98880384	missense	probably damaging	1.00
Z1088:Hao2	UTSW	3	98875352	missense	probably damaging	1.00
Z1177:Hao2	UTSW	3	98881942	missense	probably benign	0.02
Z1177:Hao2	UTSW	3	98882041	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGTAAGAGGTCCTGATGCTCCCTAC -3'
(R):5'- TGGGCAAAGATACCCTGGAAAGTTG -3'

Sequencing Primer
(F):5'- TACCACTTATCTGGGCGAGAAC -3'
(R):5'- GATACCCTGGAAAGTTGCCTACTC -3'

Posted On

2014-02-18