Incidental Mutation 'R4248:Alox12b'
| ID |
320504 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alox12b
|
| Ensembl Gene |
ENSMUSG00000032807 |
| Gene Name |
arachidonate 12-lipoxygenase, 12R type |
| Synonyms |
e-LOX2, 12R-LOX, Aloxe2 |
| MMRRC Submission |
041064-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4248 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
69047898-69060617 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 69054431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 250
(V250I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035250
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036424]
|
| AlphaFold |
O70582 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036424
AA Change: V250I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000035250
Gene: ENSMUSG00000032807
AA Change: V250I
| Domain | Start | End | E-Value | Type |
|---|
|
LH2
|
2 |
116 |
9.9e-32 |
SMART |
|
low complexity region
|
164 |
175 |
N/A |
INTRINSIC |
|
Pfam:Lipoxygenase
|
228 |
686 |
5.3e-59 |
PFAM |
|
| Meta Mutation Damage Score |
0.0654 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (32/32) |
| MGI Phenotype |
FUNCTION: This gene encodes an enzyme involved in the conversion of arachidonic acid to 12R-hydroxyeicosatetraenoic acid. Mutations in this gene can prevent the formation of the epidermal permeability barrier and cause an ichthyosiform phenotype. [provided by RefSeq, Sep 2015]
PHENOTYPE: Neonatal homozygous mutant mice exhibit reddened skin that quickly dehydrates and appears scaly. The epidermis is hyperkeratotic, and its permeability barrier function is compromised. Homozygotes die within 24 hours of birth. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
A |
G |
18: 24,606,013 (GRCm39) |
N36S |
possibly damaging |
Het |
| Armt1 |
T |
C |
10: 4,389,687 (GRCm39) |
F115L |
probably benign |
Het |
| Cdh9 |
T |
C |
15: 16,850,474 (GRCm39) |
F536L |
probably benign |
Het |
| Fbxo25 |
T |
C |
8: 13,989,617 (GRCm39) |
S355P |
probably damaging |
Het |
| Fhod3 |
A |
G |
18: 25,123,123 (GRCm39) |
K271R |
probably null |
Het |
| Gapt |
C |
A |
13: 110,490,289 (GRCm39) |
V125F |
probably damaging |
Het |
| Gucd1 |
A |
T |
10: 75,345,662 (GRCm39) |
V131E |
probably damaging |
Het |
| Hecw2 |
C |
T |
1: 53,871,804 (GRCm39) |
V1381M |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,007,299 (GRCm39) |
E1299G |
probably damaging |
Het |
| Hnf4g |
A |
G |
3: 3,717,909 (GRCm39) |
D342G |
possibly damaging |
Het |
| Kmt2b |
C |
T |
7: 30,273,489 (GRCm39) |
R2349H |
probably benign |
Het |
| Lama5 |
C |
T |
2: 179,822,220 (GRCm39) |
R2896Q |
possibly damaging |
Het |
| Moxd2 |
A |
C |
6: 40,855,933 (GRCm39) |
I552S |
probably damaging |
Het |
| Nkx1-2 |
TGGTGAGAGGGGGCCGCCTTGGCCCCG |
TG |
7: 132,201,209 (GRCm39) |
|
probably null |
Het |
| Onecut3 |
A |
G |
10: 80,349,963 (GRCm39) |
T486A |
possibly damaging |
Het |
| Or8g36 |
A |
G |
9: 39,422,899 (GRCm39) |
V39A |
probably benign |
Het |
| Pik3cb |
T |
C |
9: 98,983,229 (GRCm39) |
|
probably null |
Het |
| Pirb |
A |
G |
7: 3,722,297 (GRCm39) |
F182S |
probably damaging |
Het |
| Rev1 |
C |
T |
1: 38,146,729 (GRCm39) |
R34H |
possibly damaging |
Het |
| Satl1 |
A |
G |
X: 111,316,033 (GRCm39) |
S141P |
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Snx8 |
A |
G |
5: 140,341,800 (GRCm39) |
L121P |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,100,351 (GRCm39) |
H389R |
possibly damaging |
Het |
| Tnfrsf1b |
G |
A |
4: 144,942,535 (GRCm39) |
A416V |
probably benign |
Het |
| Ust |
A |
T |
10: 8,393,982 (GRCm39) |
L61Q |
possibly damaging |
Het |
| Vmn2r101 |
A |
T |
17: 19,809,376 (GRCm39) |
K168N |
probably damaging |
Het |
|
| Other mutations in Alox12b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00959:Alox12b
|
APN |
11 |
69,057,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02990:Alox12b
|
APN |
11 |
69,054,032 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL03106:Alox12b
|
APN |
11 |
69,059,702 (GRCm39) |
nonsense |
probably null |
|
|
R0126:Alox12b
|
UTSW |
11 |
69,058,297 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0135:Alox12b
|
UTSW |
11 |
69,053,574 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0305:Alox12b
|
UTSW |
11 |
69,058,205 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0432:Alox12b
|
UTSW |
11 |
69,060,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0828:Alox12b
|
UTSW |
11 |
69,057,132 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0854:Alox12b
|
UTSW |
11 |
69,055,302 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1139:Alox12b
|
UTSW |
11 |
69,055,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1558:Alox12b
|
UTSW |
11 |
69,056,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1870:Alox12b
|
UTSW |
11 |
69,049,199 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4088:Alox12b
|
UTSW |
11 |
69,049,211 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4195:Alox12b
|
UTSW |
11 |
69,060,426 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4371:Alox12b
|
UTSW |
11 |
69,060,442 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4774:Alox12b
|
UTSW |
11 |
69,054,033 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5108:Alox12b
|
UTSW |
11 |
69,048,208 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5252:Alox12b
|
UTSW |
11 |
69,056,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5579:Alox12b
|
UTSW |
11 |
69,053,758 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6000:Alox12b
|
UTSW |
11 |
69,060,394 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6168:Alox12b
|
UTSW |
11 |
69,060,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6322:Alox12b
|
UTSW |
11 |
69,049,199 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6634:Alox12b
|
UTSW |
11 |
69,059,647 (GRCm39) |
nonsense |
probably null |
|
|
R7026:Alox12b
|
UTSW |
11 |
69,048,131 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7519:Alox12b
|
UTSW |
11 |
69,054,039 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7669:Alox12b
|
UTSW |
11 |
69,060,167 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7863:Alox12b
|
UTSW |
11 |
69,057,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7870:Alox12b
|
UTSW |
11 |
69,060,135 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7998:Alox12b
|
UTSW |
11 |
69,059,663 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8228:Alox12b
|
UTSW |
11 |
69,054,755 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8674:Alox12b
|
UTSW |
11 |
69,054,801 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9055:Alox12b
|
UTSW |
11 |
69,054,884 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9306:Alox12b
|
UTSW |
11 |
69,060,396 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9544:Alox12b
|
UTSW |
11 |
69,054,812 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9568:Alox12b
|
UTSW |
11 |
69,054,836 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
X0018:Alox12b
|
UTSW |
11 |
69,048,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Alox12b
|
UTSW |
11 |
69,048,151 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
Z1176:Alox12b
|
UTSW |
11 |
69,048,149 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAGAGACCCCAGTGAGTAGG -3'
(R):5'- AGCCCCTTAGCTTTGTGTTG -3'
Sequencing Primer
(F):5'- TGAGTAGGTGGCCCTGTCAC -3'
(R):5'- CCCTTAGCTTTGTGTTGAATGTCCAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation