Incidental Mutation 'IGL01878:Alox8'
ID |
178940 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Alox8
|
Ensembl Gene |
ENSMUSG00000020891 |
Gene Name |
arachidonate 8-lipoxygenase |
Synonyms |
8S-LOX, 8S-lipoxygenase, 8-LOX, Alox15b |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.114)
|
Stock # |
IGL01878
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
69074758-69088669 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 69087864 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 147
(Q147K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091621
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021262]
[ENSMUST00000094078]
|
AlphaFold |
O35936 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021262
AA Change: Q147K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000021262 Gene: ENSMUSG00000020891 AA Change: Q147K
Domain | Start | End | E-Value | Type |
LH2
|
2 |
122 |
1.07e-36 |
SMART |
Pfam:Lipoxygenase
|
163 |
662 |
5.5e-70 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000094078
AA Change: Q147K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000091621 Gene: ENSMUSG00000020891 AA Change: Q147K
Domain | Start | End | E-Value | Type |
LH2
|
2 |
122 |
1.07e-36 |
SMART |
Pfam:Lipoxygenase
|
205 |
405 |
6.9e-44 |
PFAM |
Pfam:Lipoxygenase
|
402 |
640 |
1.9e-60 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144787
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156157
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene belongs to the lipoxygenase (LOX) gene family whose members encode enzymes that catalyze the addition of molecular oxygen to polyunsaturated fatty acids (PUFAs) to yield fatty acid hydroperoxides. The encoded enzyme preferentially metabolizes arachidonic acid to yield 8-hydroxyeicosatetraenoic acid (8-HETE), while metabolizing linoleic acid less efficiently. The gene may also function as a tumor suppressor. This gene is located in a cluster of related genes that spans approximately 75 kilobases on chromosome 11. [provided by RefSeq, Jan 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankib1 |
T |
A |
5: 3,784,152 (GRCm39) |
M275L |
possibly damaging |
Het |
Asb2 |
G |
A |
12: 103,287,922 (GRCm39) |
P546S |
possibly damaging |
Het |
B9d1 |
T |
C |
11: 61,398,449 (GRCm39) |
|
probably benign |
Het |
Col12a1 |
T |
C |
9: 79,557,257 (GRCm39) |
D1957G |
possibly damaging |
Het |
Cryzl2 |
T |
C |
1: 157,299,970 (GRCm39) |
V44A |
possibly damaging |
Het |
Fbxw19 |
A |
C |
9: 109,312,347 (GRCm39) |
|
probably benign |
Het |
Gabrb3 |
T |
C |
7: 57,466,163 (GRCm39) |
F326L |
probably damaging |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm11168 |
T |
C |
9: 3,005,204 (GRCm39) |
C16R |
probably benign |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Gm7808 |
T |
A |
9: 19,839,542 (GRCm39) |
|
probably benign |
Het |
Gpam |
T |
C |
19: 55,071,806 (GRCm39) |
I312V |
probably benign |
Het |
H2-M10.5 |
A |
G |
17: 37,084,708 (GRCm39) |
Y144C |
probably damaging |
Het |
Hivep3 |
T |
C |
4: 119,952,424 (GRCm39) |
S247P |
possibly damaging |
Het |
Hs3st4 |
T |
G |
7: 123,996,536 (GRCm39) |
C401G |
probably damaging |
Het |
Klhl2 |
A |
G |
8: 65,212,858 (GRCm39) |
V227A |
probably damaging |
Het |
Lct |
T |
C |
1: 128,222,003 (GRCm39) |
N1512S |
probably damaging |
Het |
Lipm |
T |
A |
19: 34,093,911 (GRCm39) |
L276Q |
possibly damaging |
Het |
Lmf2 |
T |
A |
15: 89,236,621 (GRCm39) |
H515L |
probably damaging |
Het |
Mccc1 |
G |
A |
3: 36,030,041 (GRCm39) |
S423L |
probably damaging |
Het |
Mettl21e |
G |
A |
1: 44,250,193 (GRCm39) |
S71L |
probably null |
Het |
Muc16 |
T |
A |
9: 18,406,839 (GRCm39) |
H251L |
possibly damaging |
Het |
Neb |
T |
C |
2: 52,059,852 (GRCm39) |
|
probably benign |
Het |
Ntf5 |
T |
C |
7: 45,065,450 (GRCm39) |
I194T |
probably damaging |
Het |
Or10ag58 |
T |
C |
2: 87,265,314 (GRCm39) |
I161T |
possibly damaging |
Het |
Or1o4 |
A |
G |
17: 37,590,891 (GRCm39) |
V140A |
possibly damaging |
Het |
Or2w6 |
T |
C |
13: 21,842,953 (GRCm39) |
D180G |
possibly damaging |
Het |
Or4x11 |
T |
C |
2: 89,867,478 (GRCm39) |
S72P |
probably damaging |
Het |
Or9m1 |
A |
T |
2: 87,733,675 (GRCm39) |
L115* |
probably null |
Het |
Pigv |
T |
C |
4: 133,392,428 (GRCm39) |
I247M |
probably benign |
Het |
Pik3r5 |
A |
G |
11: 68,383,356 (GRCm39) |
N392D |
probably benign |
Het |
Postn |
A |
G |
3: 54,290,901 (GRCm39) |
|
probably null |
Het |
Prl2c5 |
G |
A |
13: 13,360,402 (GRCm39) |
S23N |
probably benign |
Het |
Prpf40b |
T |
C |
15: 99,204,413 (GRCm39) |
C220R |
possibly damaging |
Het |
Pzp |
A |
G |
6: 128,472,261 (GRCm39) |
S843P |
probably damaging |
Het |
Rpl23 |
C |
A |
11: 97,669,177 (GRCm39) |
R85L |
probably benign |
Het |
Shcbp1 |
A |
G |
8: 4,799,721 (GRCm39) |
S252P |
probably damaging |
Het |
Slc26a7 |
C |
T |
4: 14,519,388 (GRCm39) |
|
probably null |
Het |
Sptbn4 |
T |
C |
7: 27,063,571 (GRCm39) |
E2285G |
probably damaging |
Het |
Telo2 |
G |
T |
17: 25,320,332 (GRCm39) |
T784K |
probably benign |
Het |
Tnfrsf19 |
C |
T |
14: 61,234,093 (GRCm39) |
V136M |
probably damaging |
Het |
Trpm5 |
T |
A |
7: 142,628,234 (GRCm39) |
I22F |
probably damaging |
Het |
Trpv6 |
G |
T |
6: 41,603,801 (GRCm39) |
|
probably benign |
Het |
Vmn1r173 |
T |
G |
7: 23,401,877 (GRCm39) |
H37Q |
probably damaging |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Xpo6 |
T |
A |
7: 125,773,365 (GRCm39) |
H20L |
probably benign |
Het |
Zfp462 |
T |
C |
4: 55,010,613 (GRCm39) |
Y860H |
probably damaging |
Het |
|
Other mutations in Alox8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01411:Alox8
|
APN |
11 |
69,079,516 (GRCm39) |
missense |
probably benign |
|
IGL02342:Alox8
|
APN |
11 |
69,077,053 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02694:Alox8
|
APN |
11 |
69,077,455 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03246:Alox8
|
APN |
11 |
69,076,841 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03373:Alox8
|
APN |
11 |
69,077,443 (GRCm39) |
missense |
probably benign |
0.00 |
R0567:Alox8
|
UTSW |
11 |
69,082,348 (GRCm39) |
critical splice donor site |
probably null |
|
R1575:Alox8
|
UTSW |
11 |
69,076,067 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1688:Alox8
|
UTSW |
11 |
69,080,732 (GRCm39) |
missense |
probably benign |
0.01 |
R2021:Alox8
|
UTSW |
11 |
69,077,114 (GRCm39) |
missense |
probably damaging |
0.98 |
R2041:Alox8
|
UTSW |
11 |
69,088,517 (GRCm39) |
missense |
possibly damaging |
0.67 |
R2175:Alox8
|
UTSW |
11 |
69,078,592 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2237:Alox8
|
UTSW |
11 |
69,076,597 (GRCm39) |
missense |
probably benign |
0.00 |
R3821:Alox8
|
UTSW |
11 |
69,077,308 (GRCm39) |
missense |
probably damaging |
0.98 |
R4870:Alox8
|
UTSW |
11 |
69,077,394 (GRCm39) |
missense |
probably damaging |
1.00 |
R6836:Alox8
|
UTSW |
11 |
69,080,715 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6836:Alox8
|
UTSW |
11 |
69,077,331 (GRCm39) |
missense |
probably damaging |
1.00 |
R7003:Alox8
|
UTSW |
11 |
69,082,416 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7158:Alox8
|
UTSW |
11 |
69,076,696 (GRCm39) |
missense |
probably benign |
0.00 |
R7316:Alox8
|
UTSW |
11 |
69,077,064 (GRCm39) |
missense |
probably benign |
0.01 |
R7513:Alox8
|
UTSW |
11 |
69,078,670 (GRCm39) |
missense |
probably benign |
0.34 |
R9515:Alox8
|
UTSW |
11 |
69,075,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R9721:Alox8
|
UTSW |
11 |
69,087,911 (GRCm39) |
missense |
probably benign |
0.19 |
X0065:Alox8
|
UTSW |
11 |
69,076,079 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Alox8
|
UTSW |
11 |
69,076,047 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1186:Alox8
|
UTSW |
11 |
69,088,322 (GRCm39) |
missense |
probably benign |
|
Z1186:Alox8
|
UTSW |
11 |
69,076,873 (GRCm39) |
missense |
probably benign |
0.00 |
Z1187:Alox8
|
UTSW |
11 |
69,088,322 (GRCm39) |
missense |
probably benign |
|
Z1187:Alox8
|
UTSW |
11 |
69,076,873 (GRCm39) |
missense |
probably benign |
0.00 |
Z1188:Alox8
|
UTSW |
11 |
69,088,322 (GRCm39) |
missense |
probably benign |
|
Z1188:Alox8
|
UTSW |
11 |
69,076,873 (GRCm39) |
missense |
probably benign |
0.00 |
Z1189:Alox8
|
UTSW |
11 |
69,088,322 (GRCm39) |
missense |
probably benign |
|
Z1189:Alox8
|
UTSW |
11 |
69,076,873 (GRCm39) |
missense |
probably benign |
0.00 |
Z1190:Alox8
|
UTSW |
11 |
69,088,322 (GRCm39) |
missense |
probably benign |
|
Z1190:Alox8
|
UTSW |
11 |
69,076,873 (GRCm39) |
missense |
probably benign |
0.00 |
Z1191:Alox8
|
UTSW |
11 |
69,088,322 (GRCm39) |
missense |
probably benign |
|
Z1191:Alox8
|
UTSW |
11 |
69,076,873 (GRCm39) |
missense |
probably benign |
0.00 |
Z1192:Alox8
|
UTSW |
11 |
69,088,322 (GRCm39) |
missense |
probably benign |
|
Z1192:Alox8
|
UTSW |
11 |
69,076,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2014-05-07 |