Incidental Mutation 'R4509:Hao1'
| ID |
331107 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hao1
|
| Ensembl Gene |
ENSMUSG00000027261 |
| Gene Name |
hydroxyacid oxidase 1, liver |
| Synonyms |
Gox1, Hao-1, GOX |
| MMRRC Submission |
041758-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R4509 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
134339281-134396272 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 134364964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 221
(D221V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028704
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028704]
|
| AlphaFold |
Q9WU19 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028704
AA Change: D221V
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000028704
Gene: ENSMUSG00000027261
AA Change: D221V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FMN_dh
|
15 |
362 |
9.1e-140 |
PFAM |
|
| Meta Mutation Damage Score |
0.8487 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (48/49) |
| 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 yet differ in encoded protein amino acid sequence, tissue expression and substrate preference. Subcellular location of the encoded protein is the peroxisome. Specifically, this gene is expressed primarily in liver and pancreas and the encoded protein is most active on glycolate, a two-carbon substrate. The protein is also active on 2-hydroxy fatty acids. The transcript detected at high levels in pancreas may represent an alternatively spliced form or the use of a multiple near-consensus upstream polyadenylation site. [provided by RefSeq, Jul 2008]
PHENOTYPE: Electrophoretic variants are known for this locus. The a allele determines a fast migrating band in BALB/c, CBA/H, C3H/He and C57BL/6; the b allele, a slow band in NZC; the c allele, the fastest band in DBA/Li, NFS/N, STS, 101/H and 129. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(3) : Targeted, other(2) Gene trapped(1) |
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
G |
11: 109,857,581 (GRCm39) |
L657P |
probably damaging |
Het |
| Adam4 |
A |
T |
12: 81,468,521 (GRCm39) |
C33* |
probably null |
Het |
| Adam6b |
T |
C |
12: 113,453,972 (GRCm39) |
V263A |
probably benign |
Het |
| Arid1a |
A |
C |
4: 133,423,010 (GRCm39) |
|
probably benign |
Het |
| Ascc3 |
T |
C |
10: 50,718,339 (GRCm39) |
F2011L |
probably benign |
Het |
| Atp5pf |
T |
C |
16: 84,624,862 (GRCm39) |
D104G |
probably benign |
Het |
| Cacna1d |
T |
C |
14: 29,818,928 (GRCm39) |
Y1209C |
probably damaging |
Het |
| Camta2 |
G |
A |
11: 70,571,844 (GRCm39) |
T484M |
probably benign |
Het |
| Ccdc178 |
T |
C |
18: 22,200,449 (GRCm39) |
N452D |
possibly damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2nl |
T |
C |
3: 104,940,063 (GRCm39) |
N2S |
probably damaging |
Het |
| Gm15032 |
A |
T |
X: 141,405,622 (GRCm39) |
|
noncoding transcript |
Het |
| Gzmg |
G |
A |
14: 56,394,210 (GRCm39) |
P228L |
probably damaging |
Het |
| Ints9 |
A |
G |
14: 65,266,381 (GRCm39) |
D411G |
possibly damaging |
Het |
| Lnx1 |
C |
T |
5: 74,780,853 (GRCm39) |
D382N |
probably damaging |
Het |
| Mdn1 |
C |
T |
4: 32,715,883 (GRCm39) |
R2022C |
probably damaging |
Het |
| Mipep |
T |
C |
14: 61,064,770 (GRCm39) |
Y375H |
probably damaging |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Pah |
T |
C |
10: 87,412,077 (GRCm39) |
|
probably null |
Het |
| Perm1 |
T |
C |
4: 156,302,043 (GRCm39) |
S196P |
probably benign |
Het |
| Pik3c2g |
A |
T |
6: 139,665,732 (GRCm39) |
T18S |
probably benign |
Het |
| Polq |
G |
A |
16: 36,868,925 (GRCm39) |
R765H |
probably damaging |
Het |
| Ppp3cb |
A |
T |
14: 20,565,569 (GRCm39) |
|
probably benign |
Het |
| Psd4 |
T |
C |
2: 24,286,347 (GRCm39) |
S316P |
probably benign |
Het |
| Ptpn18 |
T |
C |
1: 34,501,823 (GRCm39) |
V45A |
possibly damaging |
Het |
| Rasgrp3 |
A |
G |
17: 75,807,668 (GRCm39) |
M242V |
probably damaging |
Het |
| Repin1 |
T |
C |
6: 48,573,460 (GRCm39) |
C130R |
possibly damaging |
Het |
| Rrp1 |
G |
T |
10: 78,248,656 (GRCm39) |
T44K |
possibly damaging |
Het |
| Slc44a5 |
A |
G |
3: 153,939,710 (GRCm39) |
Y88C |
probably damaging |
Het |
| Socs1 |
C |
T |
16: 10,602,218 (GRCm39) |
R173Q |
probably benign |
Het |
| Speer3 |
T |
G |
5: 13,846,368 (GRCm39) |
N229K |
possibly damaging |
Het |
| Sult2a7 |
T |
A |
7: 14,204,086 (GRCm39) |
I226F |
probably damaging |
Het |
| Tdp1 |
G |
A |
12: 99,921,324 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf21 |
G |
A |
17: 43,396,279 (GRCm39) |
S521N |
probably benign |
Het |
| Tnip1 |
T |
A |
11: 54,817,616 (GRCm39) |
S244C |
probably benign |
Het |
| Ubqln3 |
G |
A |
7: 103,790,651 (GRCm39) |
L480F |
probably damaging |
Het |
| Vps13d |
G |
A |
4: 144,789,172 (GRCm39) |
P3817L |
probably damaging |
Het |
| Xpr1 |
A |
G |
1: 155,165,907 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,520,411 (GRCm39) |
E511G |
probably benign |
Het |
| Zfp560 |
C |
T |
9: 20,260,019 (GRCm39) |
C281Y |
probably damaging |
Het |
|
| Other mutations in Hao1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00465:Hao1
|
APN |
2 |
134,396,190 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00886:Hao1
|
APN |
2 |
134,365,079 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00954:Hao1
|
APN |
2 |
134,340,181 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01472:Hao1
|
APN |
2 |
134,396,150 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01570:Hao1
|
APN |
2 |
134,396,120 (GRCm39) |
missense |
probably damaging |
0.97 |
|
3-1:Hao1
|
UTSW |
2 |
134,342,916 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0928:Hao1
|
UTSW |
2 |
134,347,536 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0948:Hao1
|
UTSW |
2 |
134,372,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1204:Hao1
|
UTSW |
2 |
134,364,947 (GRCm39) |
nonsense |
probably null |
|
|
R1748:Hao1
|
UTSW |
2 |
134,340,238 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1827:Hao1
|
UTSW |
2 |
134,372,584 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1828:Hao1
|
UTSW |
2 |
134,372,584 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1917:Hao1
|
UTSW |
2 |
134,364,980 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2054:Hao1
|
UTSW |
2 |
134,340,178 (GRCm39) |
synonymous |
silent |
|
|
R2070:Hao1
|
UTSW |
2 |
134,372,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3831:Hao1
|
UTSW |
2 |
134,364,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3833:Hao1
|
UTSW |
2 |
134,364,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3960:Hao1
|
UTSW |
2 |
134,364,903 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4635:Hao1
|
UTSW |
2 |
134,365,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4662:Hao1
|
UTSW |
2 |
134,364,947 (GRCm39) |
nonsense |
probably null |
|
|
R4716:Hao1
|
UTSW |
2 |
134,347,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6161:Hao1
|
UTSW |
2 |
134,347,545 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6374:Hao1
|
UTSW |
2 |
134,365,024 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6799:Hao1
|
UTSW |
2 |
134,372,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6876:Hao1
|
UTSW |
2 |
134,343,069 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7305:Hao1
|
UTSW |
2 |
134,390,121 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7554:Hao1
|
UTSW |
2 |
134,372,538 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7585:Hao1
|
UTSW |
2 |
134,343,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7920:Hao1
|
UTSW |
2 |
134,390,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8528:Hao1
|
UTSW |
2 |
134,364,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9426:Hao1
|
UTSW |
2 |
134,347,555 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9475:Hao1
|
UTSW |
2 |
134,390,181 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9479:Hao1
|
UTSW |
2 |
134,396,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9792:Hao1
|
UTSW |
2 |
134,372,552 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9793:Hao1
|
UTSW |
2 |
134,372,552 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9795:Hao1
|
UTSW |
2 |
134,372,552 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCCACAGTCAAGAGGTTTAC -3'
(R):5'- TGGCTGAGTACGTTACAGAAAG -3'
Sequencing Primer
(F):5'- TATAGTGACTCGCAAGTGCC -3'
(R):5'- CTGAGTACGTTACAGAAAGGGGGAC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation