Incidental Mutation 'IGL02403:Alox15'
ID |
291979 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Alox15
|
Ensembl Gene |
ENSMUSG00000018924 |
Gene Name |
arachidonate 15-lipoxygenase |
Synonyms |
Alox12l, 12-LO, L-12LO |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02403
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
70234978-70242857 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 70236727 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 446
(D446G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000019068
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019068]
|
AlphaFold |
P39654 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000019068
AA Change: D446G
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000019068 Gene: ENSMUSG00000018924 AA Change: D446G
Domain | Start | End | E-Value | Type |
LH2
|
2 |
112 |
2.18e-37 |
SMART |
low complexity region
|
124 |
141 |
N/A |
INTRINSIC |
Pfam:Lipoxygenase
|
156 |
649 |
1.8e-63 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130000
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele show altered arachidonic acid metabolism and develop a myeloproliferative disorder associated with splenomegaly, abnormal splenic architecture, leukocystosis, basophilia, abnormal lymph node morphology, dermatitis, and premature death likely due to anemia. [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 |
Abcc8 |
A |
G |
7: 45,755,227 (GRCm39) |
|
probably null |
Het |
Alk |
C |
A |
17: 72,208,388 (GRCm39) |
G944V |
probably damaging |
Het |
Apof |
A |
G |
10: 128,105,353 (GRCm39) |
|
probably null |
Het |
Arhgap28 |
T |
G |
17: 68,180,154 (GRCm39) |
D81A |
possibly damaging |
Het |
Bltp1 |
T |
C |
3: 37,084,813 (GRCm39) |
S3922P |
probably benign |
Het |
Bms1 |
T |
C |
6: 118,382,185 (GRCm39) |
E451G |
possibly damaging |
Het |
C9orf72 |
A |
G |
4: 35,205,887 (GRCm39) |
|
probably benign |
Het |
Capn13 |
T |
A |
17: 73,658,421 (GRCm39) |
T216S |
possibly damaging |
Het |
Ccdc28a |
A |
T |
10: 18,089,931 (GRCm39) |
|
probably benign |
Het |
Cdip1 |
T |
C |
16: 4,586,676 (GRCm39) |
T150A |
probably damaging |
Het |
Chrnb3 |
T |
A |
8: 27,883,836 (GRCm39) |
L191Q |
probably damaging |
Het |
Chst2 |
G |
A |
9: 95,287,285 (GRCm39) |
Q354* |
probably null |
Het |
Cldn11 |
T |
C |
3: 31,204,345 (GRCm39) |
V16A |
probably benign |
Het |
Cyp4f18 |
A |
G |
8: 72,752,072 (GRCm39) |
M198T |
probably damaging |
Het |
Dhx30 |
A |
G |
9: 109,920,587 (GRCm39) |
L280P |
probably damaging |
Het |
Disc1 |
A |
G |
8: 125,862,258 (GRCm39) |
|
probably benign |
Het |
Dnm1l |
T |
C |
16: 16,154,840 (GRCm39) |
I172V |
possibly damaging |
Het |
Edem2 |
T |
C |
2: 155,550,983 (GRCm39) |
D328G |
possibly damaging |
Het |
Fbxo10 |
G |
A |
4: 45,062,517 (GRCm39) |
T3M |
probably benign |
Het |
Fdxacb1 |
T |
A |
9: 50,682,863 (GRCm39) |
S275R |
possibly damaging |
Het |
Gm7275 |
C |
A |
16: 47,893,991 (GRCm39) |
|
noncoding transcript |
Het |
Helz2 |
A |
T |
2: 180,872,815 (GRCm39) |
I2468N |
probably damaging |
Het |
Ift46 |
C |
A |
9: 44,698,176 (GRCm39) |
P213Q |
probably damaging |
Het |
Ift56 |
A |
G |
6: 38,386,373 (GRCm39) |
M365V |
possibly damaging |
Het |
Irf2 |
G |
T |
8: 47,299,207 (GRCm39) |
V334F |
probably damaging |
Het |
Lrp4 |
T |
A |
2: 91,338,927 (GRCm39) |
V1786E |
probably benign |
Het |
Mfsd5 |
A |
G |
15: 102,188,973 (GRCm39) |
Y115C |
probably benign |
Het |
Muc5ac |
A |
G |
7: 141,357,187 (GRCm39) |
R1154G |
possibly damaging |
Het |
Nek4 |
G |
T |
14: 30,686,008 (GRCm39) |
E314* |
probably null |
Het |
Oas2 |
C |
T |
5: 120,886,815 (GRCm39) |
G117D |
possibly damaging |
Het |
Or8j3b |
A |
T |
2: 86,204,867 (GRCm39) |
D296E |
probably benign |
Het |
Pikfyve |
C |
T |
1: 65,283,663 (GRCm39) |
H767Y |
probably damaging |
Het |
Pkhd1 |
T |
C |
1: 20,632,642 (GRCm39) |
H591R |
probably benign |
Het |
Pygl |
T |
A |
12: 70,241,032 (GRCm39) |
I672F |
probably benign |
Het |
Rft1 |
G |
T |
14: 30,382,278 (GRCm39) |
|
probably benign |
Het |
Ripor3 |
A |
C |
2: 167,831,250 (GRCm39) |
L517R |
probably damaging |
Het |
Serpina3b |
A |
G |
12: 104,096,721 (GRCm39) |
M1V |
probably null |
Het |
Sgce |
C |
T |
6: 4,694,059 (GRCm39) |
R263Q |
probably damaging |
Het |
Stard6 |
A |
T |
18: 70,629,183 (GRCm39) |
|
probably null |
Het |
Them4 |
T |
C |
3: 94,230,978 (GRCm39) |
F117L |
probably damaging |
Het |
Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
Vmn2r116 |
G |
T |
17: 23,606,338 (GRCm39) |
D417Y |
probably damaging |
Het |
|
Other mutations in Alox15 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01364:Alox15
|
APN |
11 |
70,235,992 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02231:Alox15
|
APN |
11 |
70,240,382 (GRCm39) |
missense |
probably benign |
|
IGL03377:Alox15
|
APN |
11 |
70,240,488 (GRCm39) |
missense |
probably damaging |
1.00 |
R0011:Alox15
|
UTSW |
11 |
70,240,422 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0013:Alox15
|
UTSW |
11 |
70,240,461 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0267:Alox15
|
UTSW |
11 |
70,236,979 (GRCm39) |
missense |
probably damaging |
0.99 |
R0646:Alox15
|
UTSW |
11 |
70,236,450 (GRCm39) |
nonsense |
probably null |
|
R0726:Alox15
|
UTSW |
11 |
70,241,021 (GRCm39) |
missense |
probably damaging |
1.00 |
R1553:Alox15
|
UTSW |
11 |
70,240,458 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1687:Alox15
|
UTSW |
11 |
70,240,744 (GRCm39) |
missense |
probably benign |
0.10 |
R1848:Alox15
|
UTSW |
11 |
70,241,578 (GRCm39) |
missense |
probably damaging |
0.99 |
R1974:Alox15
|
UTSW |
11 |
70,240,799 (GRCm39) |
missense |
probably benign |
0.06 |
R3113:Alox15
|
UTSW |
11 |
70,235,703 (GRCm39) |
missense |
probably benign |
0.20 |
R4551:Alox15
|
UTSW |
11 |
70,235,422 (GRCm39) |
missense |
probably benign |
|
R5511:Alox15
|
UTSW |
11 |
70,240,808 (GRCm39) |
missense |
probably benign |
0.00 |
R5809:Alox15
|
UTSW |
11 |
70,241,708 (GRCm39) |
missense |
probably damaging |
1.00 |
R6479:Alox15
|
UTSW |
11 |
70,236,011 (GRCm39) |
missense |
probably damaging |
0.98 |
R6800:Alox15
|
UTSW |
11 |
70,235,645 (GRCm39) |
critical splice donor site |
probably null |
|
R7243:Alox15
|
UTSW |
11 |
70,241,540 (GRCm39) |
missense |
probably null |
1.00 |
R7253:Alox15
|
UTSW |
11 |
70,236,724 (GRCm39) |
missense |
probably damaging |
1.00 |
R7644:Alox15
|
UTSW |
11 |
70,236,368 (GRCm39) |
missense |
probably null |
1.00 |
R7712:Alox15
|
UTSW |
11 |
70,241,079 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7823:Alox15
|
UTSW |
11 |
70,235,494 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8192:Alox15
|
UTSW |
11 |
70,241,736 (GRCm39) |
missense |
probably benign |
0.38 |
R8410:Alox15
|
UTSW |
11 |
70,235,753 (GRCm39) |
missense |
probably benign |
0.25 |
R8765:Alox15
|
UTSW |
11 |
70,240,819 (GRCm39) |
missense |
probably benign |
0.00 |
R9256:Alox15
|
UTSW |
11 |
70,236,370 (GRCm39) |
missense |
possibly damaging |
0.49 |
R9361:Alox15
|
UTSW |
11 |
70,241,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |