Incidental Mutation 'R0567:Alox8'
| ID |
46225 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alox8
|
| Ensembl Gene |
ENSMUSG00000020891 |
| Gene Name |
arachidonate 8-lipoxygenase |
| Synonyms |
8S-LOX, 8S-lipoxygenase, 8-LOX, Alox15b |
| MMRRC Submission |
038758-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R0567 (G1)
|
| Quality Score |
208 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
69074758-69088669 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 69082348 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091621
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021262]
[ENSMUST00000094078]
[ENSMUST00000094078]
|
| AlphaFold |
O35936 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021262
|
| SMART Domains |
Protein: ENSMUSP00000021262
Gene: ENSMUSG00000020891
| Domain | Start | End | E-Value | Type |
|---|
|
LH2
|
2 |
122 |
1.07e-36 |
SMART |
|
Pfam:Lipoxygenase
|
163 |
662 |
5.5e-70 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000094078
|
| SMART Domains |
Protein: ENSMUSP00000091621
Gene: ENSMUSG00000020891
| 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 |
probably null
Transcript: ENSMUST00000094078
|
| SMART Domains |
Protein: ENSMUSP00000091621
Gene: ENSMUSG00000020891
| 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 |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
A |
G |
4: 86,146,253 (GRCm39) |
E303G |
probably damaging |
Het |
| Akr1b1 |
A |
T |
6: 34,281,280 (GRCm39) |
|
probably null |
Het |
| Apcdd1 |
G |
A |
18: 63,067,107 (GRCm39) |
E74K |
possibly damaging |
Het |
| Atr |
T |
C |
9: 95,747,882 (GRCm39) |
V388A |
probably benign |
Het |
| AW554918 |
G |
A |
18: 25,533,092 (GRCm39) |
E452K |
possibly damaging |
Het |
| C1galt1 |
A |
G |
6: 7,866,874 (GRCm39) |
D240G |
probably damaging |
Het |
| Ceacam10 |
T |
A |
7: 24,477,834 (GRCm39) |
D116E |
probably damaging |
Het |
| Col15a1 |
G |
T |
4: 47,293,231 (GRCm39) |
V912L |
possibly damaging |
Het |
| Cyp3a11 |
G |
A |
5: 145,805,959 (GRCm39) |
T136I |
probably damaging |
Het |
| Denr |
C |
T |
5: 124,046,221 (GRCm39) |
T17M |
probably benign |
Het |
| Doc2b |
A |
G |
11: 75,670,950 (GRCm39) |
F227S |
probably damaging |
Het |
| Dsp |
A |
T |
13: 38,376,414 (GRCm39) |
T1400S |
probably benign |
Het |
| Egfr |
A |
T |
11: 16,822,873 (GRCm39) |
D412V |
probably benign |
Het |
| Fryl |
C |
T |
5: 73,222,734 (GRCm39) |
G1949D |
possibly damaging |
Het |
| Gstp3 |
A |
T |
19: 4,107,636 (GRCm39) |
L176Q |
possibly damaging |
Het |
| H2ac12 |
T |
C |
13: 22,219,734 (GRCm39) |
|
probably benign |
Het |
| Heatr5a |
T |
A |
12: 51,956,872 (GRCm39) |
N1075I |
probably damaging |
Het |
| Ighv1-69 |
C |
T |
12: 115,587,169 (GRCm39) |
|
probably benign |
Het |
| Lama3 |
A |
G |
18: 12,682,309 (GRCm39) |
I1092V |
probably benign |
Het |
| Lipg |
A |
T |
18: 75,090,440 (GRCm39) |
H36Q |
probably benign |
Het |
| Myh7b |
T |
C |
2: 155,468,318 (GRCm39) |
W836R |
probably damaging |
Het |
| Oit3 |
A |
T |
10: 59,271,800 (GRCm39) |
C186S |
probably damaging |
Het |
| Or4m1 |
A |
T |
14: 50,558,115 (GRCm39) |
M59K |
probably damaging |
Het |
| P2ry2 |
T |
C |
7: 100,647,748 (GRCm39) |
T186A |
probably damaging |
Het |
| Pyroxd2 |
T |
C |
19: 42,724,364 (GRCm39) |
T300A |
probably benign |
Het |
| Rab26 |
C |
A |
17: 24,748,556 (GRCm39) |
V283F |
probably damaging |
Het |
| Rad50 |
C |
T |
11: 53,545,783 (GRCm39) |
R1180Q |
probably damaging |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Shroom3 |
A |
G |
5: 93,112,312 (GRCm39) |
D1891G |
possibly damaging |
Het |
| Syne2 |
G |
A |
12: 75,937,004 (GRCm39) |
E201K |
probably damaging |
Het |
| Taf6 |
A |
T |
5: 138,181,988 (GRCm39) |
|
probably null |
Het |
| Tbc1d32 |
A |
T |
10: 56,050,059 (GRCm39) |
M493K |
possibly damaging |
Het |
| Uaca |
A |
G |
9: 60,778,663 (GRCm39) |
T1017A |
probably benign |
Het |
| Usp17le |
C |
T |
7: 104,418,105 (GRCm39) |
V346I |
possibly damaging |
Het |
| Vmn1r71 |
T |
C |
7: 10,482,556 (GRCm39) |
D44G |
probably damaging |
Het |
| Vmn2r80 |
A |
G |
10: 79,030,665 (GRCm39) |
I830M |
possibly damaging |
Het |
| Yju2b |
A |
G |
8: 84,987,294 (GRCm39) |
L93P |
probably damaging |
Het |
| Zfp994 |
T |
C |
17: 22,419,449 (GRCm39) |
Y500C |
possibly damaging |
Het |
| Zscan20 |
A |
G |
4: 128,483,243 (GRCm39) |
|
probably null |
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 |
|
|
IGL01878:Alox8
|
APN |
11 |
69,087,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2013-06-11 |
Incidental Mutation