Incidental Mutation 'R4488:Hao2'
| ID |
330581 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hao2
|
| Ensembl Gene |
ENSMUSG00000027870 |
| Gene Name |
hydroxyacid oxidase 2 |
| Synonyms |
Hao3 |
| MMRRC Submission |
041744-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4488 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
98781837-98800555 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 98789341 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 116
(I116F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029464
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029464]
|
| AlphaFold |
Q9NYQ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029464
AA Change: I116F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029464
Gene: ENSMUSG00000027870
AA Change: I116F
| 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 |
0.6432 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
95% (38/40) |
| 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 |
|---|
| Alkal1 |
A |
T |
1: 6,429,631 (GRCm39) |
Q26L |
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,058,082 (GRCm39) |
Q3224L |
probably null |
Het |
| Brox |
A |
G |
1: 183,062,514 (GRCm39) |
L280S |
probably benign |
Het |
| Cep41 |
A |
T |
6: 30,655,688 (GRCm39) |
|
probably benign |
Het |
| Cryz |
C |
A |
3: 154,324,094 (GRCm39) |
|
probably benign |
Het |
| Cyp26c1 |
T |
C |
19: 37,681,658 (GRCm39) |
V487A |
probably benign |
Het |
| Dlx6 |
T |
C |
6: 6,867,207 (GRCm39) |
M270T |
probably damaging |
Het |
| Glb1 |
T |
C |
9: 114,272,182 (GRCm39) |
I273T |
probably damaging |
Het |
| Glp1r |
A |
C |
17: 31,137,905 (GRCm39) |
H112P |
probably benign |
Het |
| Grm6 |
T |
C |
11: 50,750,816 (GRCm39) |
S660P |
probably damaging |
Het |
| Hcrtr1 |
A |
G |
4: 130,029,556 (GRCm39) |
V175A |
probably benign |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Kifbp |
A |
G |
10: 62,398,806 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
G |
A |
7: 135,299,400 (GRCm39) |
T1878I |
probably benign |
Het |
| Ncoa6 |
A |
G |
2: 155,249,396 (GRCm39) |
F1303L |
possibly damaging |
Het |
| Ngf |
G |
A |
3: 102,428,015 (GRCm39) |
D255N |
probably damaging |
Het |
| Nutf2 |
T |
A |
8: 106,603,059 (GRCm39) |
|
probably null |
Het |
| Or52e7 |
T |
C |
7: 104,684,510 (GRCm39) |
F35S |
probably benign |
Het |
| Rbm45 |
T |
C |
2: 76,206,740 (GRCm39) |
S251P |
probably damaging |
Het |
| Rnaset2b |
A |
G |
17: 7,265,469 (GRCm39) |
Y155C |
probably damaging |
Het |
| Rnf122 |
A |
G |
8: 31,618,283 (GRCm39) |
T92A |
probably damaging |
Het |
| Rnf220 |
A |
G |
4: 117,347,011 (GRCm39) |
S134P |
probably damaging |
Het |
| Shprh |
A |
T |
10: 11,036,215 (GRCm39) |
I351F |
probably benign |
Het |
| Smchd1 |
T |
C |
17: 71,714,230 (GRCm39) |
T878A |
probably benign |
Het |
| Sulf1 |
G |
T |
1: 12,856,739 (GRCm39) |
|
probably benign |
Het |
| Svil |
T |
C |
18: 5,049,067 (GRCm39) |
Y202H |
probably damaging |
Het |
| Tek |
A |
G |
4: 94,737,993 (GRCm39) |
D681G |
possibly damaging |
Het |
| Tra2a |
A |
G |
6: 49,229,428 (GRCm39) |
|
probably benign |
Het |
| Vcp |
A |
T |
4: 42,993,826 (GRCm39) |
I102N |
probably damaging |
Het |
| Vmn2r25 |
A |
T |
6: 123,799,819 (GRCm39) |
I841N |
probably damaging |
Het |
| Zfp949 |
T |
C |
9: 88,452,142 (GRCm39) |
S571P |
probably damaging |
Het |
| Zkscan16 |
A |
G |
4: 58,957,431 (GRCm39) |
E571G |
possibly damaging |
Het |
| Zup1 |
G |
A |
10: 33,824,960 (GRCm39) |
T174I |
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 |
|
|
IGL03279:Hao2
|
APN |
3 |
98,787,712 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGCCTCCAAATCCAGCAG -3'
(R):5'- TAGCTTACACGGAAGAGAATGC -3'
Sequencing Primer
(F):5'- AAATCCAGCAGGCTTCTCTTG -3'
(R):5'- ATCTCTCATGGGGAAGTAGAATGTAC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation