Mutagenetix > Incidental Mutations

Incidental Mutation 'R6129:Hao2'

487558

Institutional Source

Beutler Lab

Gene Symbol

Hao2

Ensembl Gene

ENSMUSG00000027870

Gene Name

hydroxyacid oxidase 2

Synonyms

Hao3

MMRRC Submission

044276-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6129 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98874521-98893239 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98880526 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 196 (T196A)

Ref Sequence

ENSEMBL: ENSMUSP00000029464 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000029464
AA Change: T196A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000029464
Gene: ENSMUSG00000027870
AA Change: T196A

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

0.0984

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

100% (54/54)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	T	A	11: 69,898,311	Y354F	probably damaging	Het
Aatk	C	T	11: 120,021,533	G29S	probably damaging	Het
Acsm2	G	A	7: 119,591,247		probably null	Het
Adgrl1	A	G	8: 83,918,987	N80D	probably damaging	Het
Ankrd34a	T	A	3: 96,597,958	Y159*	probably null	Het
BC067074	T	A	13: 113,368,806	Y2156*	probably null	Het
Bcl2l2	G	A	14: 54,884,745	V122M	possibly damaging	Het
Brms1l	A	G	12: 55,868,185	H293R	probably benign	Het
Clec4b1	A	G	6: 123,068,502	T94A	possibly damaging	Het
Crim1	A	G	17: 78,281,309	D271G	probably benign	Het
Csmd2	G	A	4: 128,493,334	G2141S	possibly damaging	Het
Ctnnal1	C	A	4: 56,829,573	A419S	possibly damaging	Het
Cyp27a1	G	A	1: 74,735,692	R264H	probably benign	Het
Cyr61	T	C	3: 145,649,231	I90V	possibly damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Dsc2	T	A	18: 20,045,430	T306S	possibly damaging	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Ermp1	A	T	19: 29,623,209	Y586N	possibly damaging	Het
Fbxo6	A	T	4: 148,149,522	I39N	probably damaging	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm5114	C	T	7: 39,408,600	A532T	possibly damaging	Het
Gm5431	A	G	11: 48,889,591	L168P	probably damaging	Het
Hdac9	A	C	12: 34,287,475	L669R	probably damaging	Het
Hps5	A	G	7: 46,771,774	V755A	probably benign	Het
Jag2	G	T	12: 112,920,349	Y203*	probably null	Het
Lrrn3	G	A	12: 41,453,788	Q177*	probably null	Het
Me1	A	T	9: 86,650,956	V151E	probably damaging	Het
Mkx	A	G	18: 6,992,888	V132A	probably damaging	Het
Mycbp2	A	G	14: 103,285,400	S643P	probably benign	Het
Mysm1	C	A	4: 94,967,955	R135L	probably damaging	Het
Nup210l	T	C	3: 90,104,176	F4L	probably benign	Het
Pappa2	A	T	1: 158,714,997	C1773*	probably null	Het
Pcbp3	T	C	10: 76,763,348	E318G	probably damaging	Het
Pcdh12	T	C	18: 38,277,859	K984E	probably damaging	Het
Pcna-ps2	A	G	19: 9,284,015	N213D	possibly damaging	Het
Pde8b	G	A	13: 95,041,959	A509V	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449		probably benign	Het
Phf7	A	G	14: 31,240,863	Y137H	probably damaging	Het
Pkd1l1	A	G	11: 8,868,543	V1315A	probably benign	Het
Plxnd1	A	G	6: 115,978,174	C571R	probably damaging	Het
Ppp1r12b	C	T	1: 134,892,252	W251*	probably null	Het
Prps1l1	A	G	12: 34,985,330	E148G	probably damaging	Het
Robo1	A	T	16: 73,013,068	M1235L	probably benign	Het
Robo3	A	G	9: 37,423,293	Y592H	probably benign	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Rufy1	A	T	11: 50,417,248	L259Q	probably damaging	Het
Rusc2	T	C	4: 43,424,271	F1112S	probably damaging	Het
Sap130	T	C	18: 31,682,091	V622A	possibly damaging	Het
Sptbn4	C	A	7: 27,360,088	C1124F	probably damaging	Het
Stk10	T	A	11: 32,615,871	C872S	probably damaging	Het
Tex15	A	T	8: 33,574,130	N1196I	possibly damaging	Het
Tnxa	A	G	17: 34,800,288		probably benign	Het
Zfp647	G	A	15: 76,912,085	P125L	probably damaging	Het
Zscan4b	T	A	7: 10,901,888	T171S	probably benign	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
R0600:Hao2	UTSW	3	98883560	splice site	probably benign
R1298:Hao2	UTSW	3	98883669	missense	possibly damaging	0.94
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
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
Z1088:Hao2	UTSW	3	98875352	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGCAGGAACCTCATCAAGCTG -3'
(R):5'- TGGTCAGTCAACAAGCCATTAAAG -3'

Sequencing Primer
(F):5'- ATCAAGCTGCCTCCCGC -3'
(R):5'- GAAATTCTTCATACAGCCTTTGGGAG -3'

Posted On

2017-10-10