Incidental Mutation 'IGL02990:Alox12b'
| ID |
406881 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Alox12b
|
| Ensembl Gene |
ENSMUSG00000032807 |
| Gene Name |
arachidonate 12-lipoxygenase, 12R type |
| Synonyms |
e-LOX2, 12R-LOX, Aloxe2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02990
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
69047898-69060617 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 69054032 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 205
(V205F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035250
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036424]
|
| AlphaFold |
O70582 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036424
AA Change: V205F
PolyPhen 2
Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000035250
Gene: ENSMUSG00000032807
AA Change: V205F
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ampd3 |
T |
C |
7: 110,407,170 (GRCm39) |
|
probably benign |
Het |
| Arhgef18 |
G |
A |
8: 3,494,904 (GRCm39) |
V388I |
probably benign |
Het |
| Atp6v1c2 |
C |
T |
12: 17,344,741 (GRCm39) |
V169I |
probably damaging |
Het |
| Ccdc88b |
G |
T |
19: 6,824,777 (GRCm39) |
L1328I |
probably damaging |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Cluh |
G |
A |
11: 74,558,591 (GRCm39) |
|
probably null |
Het |
| Cpsf7 |
C |
A |
19: 10,509,159 (GRCm39) |
N23K |
probably benign |
Het |
| Cyp4x1 |
A |
T |
4: 114,978,946 (GRCm39) |
F191L |
probably benign |
Het |
| Dcn |
A |
G |
10: 97,345,835 (GRCm39) |
T216A |
probably benign |
Het |
| Drosha |
C |
T |
15: 12,827,353 (GRCm39) |
|
probably benign |
Het |
| Foxn4 |
A |
G |
5: 114,411,050 (GRCm39) |
S24P |
probably damaging |
Het |
| Gm11733 |
A |
T |
11: 117,377,809 (GRCm39) |
|
probably null |
Het |
| Hapln1 |
A |
C |
13: 89,749,725 (GRCm39) |
Y90S |
probably benign |
Het |
| Igf2r |
C |
A |
17: 12,929,633 (GRCm39) |
|
probably benign |
Het |
| Jade2 |
A |
G |
11: 51,722,074 (GRCm39) |
|
probably benign |
Het |
| Kcnh7 |
A |
T |
2: 62,536,330 (GRCm39) |
L1084H |
probably benign |
Het |
| Kif1a |
T |
C |
1: 92,966,985 (GRCm39) |
D1155G |
probably damaging |
Het |
| Llgl2 |
A |
G |
11: 115,745,159 (GRCm39) |
M958V |
probably benign |
Het |
| Lrp2 |
A |
G |
2: 69,271,740 (GRCm39) |
V4064A |
possibly damaging |
Het |
| Mau2 |
A |
G |
8: 70,474,905 (GRCm39) |
|
probably benign |
Het |
| Mllt10 |
T |
C |
2: 18,128,522 (GRCm39) |
|
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,370,266 (GRCm39) |
T1009A |
probably benign |
Het |
| Myo6 |
T |
C |
9: 80,183,685 (GRCm39) |
|
probably null |
Het |
| Neil2 |
G |
T |
14: 63,429,258 (GRCm39) |
H12N |
possibly damaging |
Het |
| Nrde2 |
T |
C |
12: 100,108,355 (GRCm39) |
E412G |
probably damaging |
Het |
| Or14j3 |
C |
T |
17: 37,900,559 (GRCm39) |
M228I |
probably benign |
Het |
| Or4c115 |
T |
C |
2: 88,927,473 (GRCm39) |
Y266C |
possibly damaging |
Het |
| Patl2 |
T |
G |
2: 121,954,978 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
T |
C |
1: 20,593,187 (GRCm39) |
H1642R |
possibly damaging |
Het |
| Ppp6r1 |
A |
G |
7: 4,646,022 (GRCm39) |
I199T |
possibly damaging |
Het |
| Prom2 |
T |
A |
2: 127,370,734 (GRCm39) |
T817S |
probably benign |
Het |
| Slc49a4 |
C |
A |
16: 35,555,861 (GRCm39) |
V200F |
possibly damaging |
Het |
| Slc9b1 |
A |
G |
3: 135,100,744 (GRCm39) |
|
probably null |
Het |
| Sv2c |
A |
T |
13: 96,224,886 (GRCm39) |
I141K |
probably damaging |
Het |
| Tas2r139 |
A |
T |
6: 42,118,038 (GRCm39) |
I57F |
probably damaging |
Het |
| Tep1 |
A |
G |
14: 51,105,703 (GRCm39) |
S106P |
possibly damaging |
Het |
| Tnni3k |
T |
C |
3: 154,663,395 (GRCm39) |
D319G |
probably benign |
Het |
| Tom1l2 |
C |
T |
11: 60,121,062 (GRCm39) |
D461N |
probably damaging |
Het |
| Ugt1a10 |
T |
C |
1: 87,983,601 (GRCm39) |
L133S |
probably damaging |
Het |
| Usf2 |
T |
G |
7: 30,654,732 (GRCm39) |
Q161P |
probably benign |
Het |
| Vmn1r15 |
A |
G |
6: 57,235,593 (GRCm39) |
T154A |
probably benign |
Het |
| Vmn2r95 |
C |
A |
17: 18,672,298 (GRCm39) |
Y678* |
probably null |
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 |
|
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 |
|
R4248:Alox12b
|
UTSW |
11 |
69,054,431 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation