Incidental Mutation 'R4487:Hao2'
| ID |
331651 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hao2
|
| Ensembl Gene |
ENSMUSG00000027870 |
| Gene Name |
hydroxyacid oxidase 2 |
| Synonyms |
Hao3 |
| MMRRC Submission |
041743-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4487 (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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (41/41) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310030G06Rik |
A |
G |
9: 50,651,931 (GRCm39) |
L99P |
probably damaging |
Het |
| Abcd2 |
A |
G |
15: 91,062,486 (GRCm39) |
V484A |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,588,185 (GRCm39) |
I4467T |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,892,622 (GRCm39) |
D1500E |
possibly damaging |
Het |
| C1ql2 |
A |
T |
1: 120,269,409 (GRCm39) |
Y188F |
possibly damaging |
Het |
| Cnga2 |
T |
A |
X: 71,049,733 (GRCm39) |
F133I |
possibly damaging |
Het |
| Crybg2 |
T |
C |
4: 133,801,512 (GRCm39) |
S891P |
probably benign |
Het |
| Htr1b |
A |
T |
9: 81,513,592 (GRCm39) |
D338E |
probably benign |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Kif9 |
A |
G |
9: 110,323,552 (GRCm39) |
E225G |
probably null |
Het |
| Krt76 |
T |
C |
15: 101,798,917 (GRCm39) |
K256R |
possibly damaging |
Het |
| Mapk4 |
T |
C |
18: 74,064,046 (GRCm39) |
D392G |
probably damaging |
Het |
| Mthfr |
A |
G |
4: 148,135,884 (GRCm39) |
K278R |
probably benign |
Het |
| Mup4 |
T |
A |
4: 59,960,547 (GRCm39) |
E18V |
probably damaging |
Het |
| Nepro |
A |
G |
16: 44,556,089 (GRCm39) |
K416E |
probably damaging |
Het |
| Ngf |
G |
A |
3: 102,428,015 (GRCm39) |
D255N |
probably damaging |
Het |
| Nmu |
A |
G |
5: 76,491,909 (GRCm39) |
|
probably null |
Het |
| Nt5m |
A |
G |
11: 59,739,173 (GRCm39) |
Y73C |
probably damaging |
Het |
| Oaz3 |
A |
T |
3: 94,342,437 (GRCm39) |
|
probably null |
Het |
| Pgap1 |
A |
G |
1: 54,567,751 (GRCm39) |
S365P |
probably benign |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pus7l |
A |
G |
15: 94,429,498 (GRCm39) |
I440T |
possibly damaging |
Het |
| Raph1 |
C |
T |
1: 60,542,028 (GRCm39) |
S362N |
possibly damaging |
Het |
| Rftn2 |
A |
G |
1: 55,241,311 (GRCm39) |
Y330H |
possibly damaging |
Het |
| Rhot2 |
G |
A |
17: 26,058,467 (GRCm39) |
H580Y |
probably benign |
Het |
| Rnase2a |
A |
T |
14: 51,493,302 (GRCm39) |
M21K |
unknown |
Het |
| Rusf1 |
T |
C |
7: 127,887,530 (GRCm39) |
D24G |
probably damaging |
Het |
| Smchd1 |
T |
C |
17: 71,714,230 (GRCm39) |
T878A |
probably benign |
Het |
| Snx1 |
A |
T |
9: 65,996,877 (GRCm39) |
V459E |
possibly damaging |
Het |
| Suz12 |
A |
G |
11: 79,922,939 (GRCm39) |
T694A |
probably benign |
Het |
| Tg |
G |
A |
15: 66,543,245 (GRCm39) |
C53Y |
probably damaging |
Het |
| Tor1aip1 |
G |
T |
1: 155,882,870 (GRCm39) |
T326K |
probably damaging |
Het |
| Vmn1r61 |
C |
A |
7: 5,613,924 (GRCm39) |
C130F |
possibly damaging |
Het |
| Xlr5b |
T |
C |
X: 72,201,504 (GRCm39) |
|
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCCAAATCCAGCAGGCTTC -3'
(R):5'- TAGCTTACACGGAAGAGAATGC -3'
Sequencing Primer
(F):5'- AAATCCAGCAGGCTTCTCTTG -3'
(R):5'- ATCTCTCATGGGGAAGTAGAATGTAC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation