Incidental Mutation 'IGL03279:Hao2'
ID |
415524 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Hao2
|
Ensembl Gene |
ENSMUSG00000027870 |
Gene Name |
hydroxyacid oxidase 2 |
Synonyms |
Hao3 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03279
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
98781837-98800555 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 98787712 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 239
(N239I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029464
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029464]
|
AlphaFold |
Q9NYQ2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029464
AA Change: N239I
PolyPhen 2
Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000029464 Gene: ENSMUSG00000027870 AA Change: N239I
Domain | Start | End | E-Value | Type |
Pfam:FMN_dh
|
13 |
350 |
1.8e-127 |
PFAM |
Pfam:Glu_synthase
|
258 |
314 |
1.1e-6 |
PFAM |
|
Coding Region Coverage |
|
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. 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 |
Aatk |
T |
A |
11: 119,904,504 (GRCm39) |
D224V |
probably damaging |
Het |
Abca4 |
C |
A |
3: 121,935,381 (GRCm39) |
N1526K |
probably benign |
Het |
Aif1 |
T |
A |
17: 35,390,523 (GRCm39) |
K76* |
probably null |
Het |
Arap2 |
A |
G |
5: 62,779,253 (GRCm39) |
S1446P |
probably damaging |
Het |
Cyb5rl |
A |
T |
4: 106,941,325 (GRCm39) |
E250V |
possibly damaging |
Het |
Dock3 |
T |
C |
9: 106,788,447 (GRCm39) |
|
probably benign |
Het |
Dppa2 |
A |
G |
16: 48,132,028 (GRCm39) |
T42A |
possibly damaging |
Het |
Drosha |
C |
T |
15: 12,859,478 (GRCm39) |
P562L |
probably benign |
Het |
Egfl7 |
C |
A |
2: 26,480,719 (GRCm39) |
H126N |
probably benign |
Het |
Gm5852 |
T |
C |
3: 93,634,584 (GRCm39) |
|
noncoding transcript |
Het |
Gpr161 |
T |
C |
1: 165,138,098 (GRCm39) |
F228S |
probably damaging |
Het |
Grid1 |
T |
A |
14: 34,667,722 (GRCm39) |
M83K |
probably damaging |
Het |
Gsdma2 |
T |
C |
11: 98,548,549 (GRCm39) |
S434P |
unknown |
Het |
Hsd17b14 |
A |
T |
7: 45,215,617 (GRCm39) |
I206F |
possibly damaging |
Het |
Kansl1l |
A |
T |
1: 66,774,825 (GRCm39) |
V667E |
probably damaging |
Het |
Kdm3a |
T |
C |
6: 71,588,659 (GRCm39) |
D450G |
probably benign |
Het |
Lmo7 |
C |
A |
14: 102,137,944 (GRCm39) |
A882E |
probably benign |
Het |
P4ha3 |
A |
G |
7: 99,949,893 (GRCm39) |
Y254C |
probably damaging |
Het |
Pcdh15 |
A |
G |
10: 74,152,904 (GRCm39) |
Y408C |
probably damaging |
Het |
Pglyrp3 |
T |
C |
3: 91,933,834 (GRCm39) |
Y160H |
probably damaging |
Het |
Pnma5 |
G |
A |
X: 72,079,605 (GRCm39) |
T359I |
probably benign |
Het |
Ptbp3 |
A |
T |
4: 59,476,937 (GRCm39) |
H440Q |
possibly damaging |
Het |
Rbx1 |
A |
G |
15: 81,352,399 (GRCm39) |
N41S |
probably damaging |
Het |
Rpl3 |
G |
A |
15: 79,962,560 (GRCm39) |
T340I |
probably benign |
Het |
Scrn1 |
G |
A |
6: 54,525,322 (GRCm39) |
R16* |
probably null |
Het |
Sema6a |
A |
T |
18: 47,433,157 (GRCm39) |
C91* |
probably null |
Het |
Slco6d1 |
T |
A |
1: 98,394,405 (GRCm39) |
V363E |
probably damaging |
Het |
Stk38 |
A |
G |
17: 29,203,179 (GRCm39) |
|
probably benign |
Het |
Tanc2 |
G |
A |
11: 105,803,918 (GRCm39) |
|
probably null |
Het |
Thada |
A |
G |
17: 84,742,988 (GRCm39) |
F812S |
probably benign |
Het |
Tubb4b-ps1 |
A |
G |
5: 7,229,630 (GRCm39) |
|
probably benign |
Het |
Veph1 |
T |
C |
3: 66,162,443 (GRCm39) |
T72A |
probably damaging |
Het |
Vps52 |
T |
A |
17: 34,176,848 (GRCm39) |
D67E |
probably damaging |
Het |
|
Other mutations in Hao2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01933:Hao2
|
APN |
3 |
98,787,648 (GRCm39) |
splice site |
probably benign |
|
goatherd
|
UTSW |
3 |
98,784,451 (GRCm39) |
missense |
probably benign |
0.06 |
R0600:Hao2
|
UTSW |
3 |
98,790,876 (GRCm39) |
splice site |
probably benign |
|
R1298:Hao2
|
UTSW |
3 |
98,790,985 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3176:Hao2
|
UTSW |
3 |
98,787,644 (GRCm39) |
splice site |
probably benign |
|
R3177:Hao2
|
UTSW |
3 |
98,787,644 (GRCm39) |
splice site |
probably benign |
|
R3786:Hao2
|
UTSW |
3 |
98,784,068 (GRCm39) |
missense |
probably damaging |
1.00 |
R4486:Hao2
|
UTSW |
3 |
98,789,341 (GRCm39) |
missense |
probably damaging |
1.00 |
R4487:Hao2
|
UTSW |
3 |
98,789,341 (GRCm39) |
missense |
probably damaging |
1.00 |
R4488:Hao2
|
UTSW |
3 |
98,789,341 (GRCm39) |
missense |
probably damaging |
1.00 |
R5290:Hao2
|
UTSW |
3 |
98,784,493 (GRCm39) |
missense |
probably damaging |
0.99 |
R5760:Hao2
|
UTSW |
3 |
98,787,748 (GRCm39) |
nonsense |
probably null |
|
R6129:Hao2
|
UTSW |
3 |
98,787,842 (GRCm39) |
missense |
probably benign |
0.00 |
R6720:Hao2
|
UTSW |
3 |
98,784,451 (GRCm39) |
missense |
probably benign |
0.06 |
R6861:Hao2
|
UTSW |
3 |
98,784,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R6991:Hao2
|
UTSW |
3 |
98,784,068 (GRCm39) |
missense |
probably damaging |
1.00 |
R7203:Hao2
|
UTSW |
3 |
98,784,598 (GRCm39) |
splice site |
probably null |
|
R8277:Hao2
|
UTSW |
3 |
98,787,700 (GRCm39) |
missense |
probably damaging |
1.00 |
R8515:Hao2
|
UTSW |
3 |
98,790,963 (GRCm39) |
missense |
probably benign |
0.00 |
R8848:Hao2
|
UTSW |
3 |
98,784,528 (GRCm39) |
missense |
probably damaging |
1.00 |
R9335:Hao2
|
UTSW |
3 |
98,791,010 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9497:Hao2
|
UTSW |
3 |
98,784,462 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Hao2
|
UTSW |
3 |
98,782,668 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Hao2
|
UTSW |
3 |
98,789,357 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1177:Hao2
|
UTSW |
3 |
98,789,258 (GRCm39) |
missense |
probably benign |
0.02 |
|
Posted On |
2016-08-02 |