Incidental Mutation 'R2041:Alox8'
| ID |
224961 |
| 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 |
040048-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R2041 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
69074758-69088669 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 69088517 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 40
(H40L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021262
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021262]
[ENSMUST00000094078]
|
| AlphaFold |
O35936 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021262
AA Change: H40L
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000021262
Gene: ENSMUSG00000020891
AA Change: H40L
| 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: H40L
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000091621
Gene: ENSMUSG00000020891
AA Change: H40L
| 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
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (61/61) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
T |
A |
5: 144,982,211 (GRCm39) |
D265E |
probably damaging |
Het |
| 2610021A01Rik |
A |
G |
7: 41,275,403 (GRCm39) |
R369G |
possibly damaging |
Het |
| Actr3b |
T |
C |
5: 25,965,128 (GRCm39) |
|
probably null |
Het |
| Adamts12 |
A |
T |
15: 11,215,821 (GRCm39) |
M281L |
probably damaging |
Het |
| Aipl1 |
T |
A |
11: 71,922,332 (GRCm39) |
M126L |
possibly damaging |
Het |
| Akap12 |
C |
T |
10: 4,306,489 (GRCm39) |
P1100S |
probably benign |
Het |
| Anks1 |
T |
A |
17: 28,227,388 (GRCm39) |
F659L |
probably damaging |
Het |
| Asxl3 |
G |
T |
18: 22,656,508 (GRCm39) |
R1506L |
probably benign |
Het |
| Bicd2 |
A |
G |
13: 49,495,252 (GRCm39) |
T36A |
probably benign |
Het |
| Ccar1 |
A |
T |
10: 62,601,827 (GRCm39) |
L448Q |
probably damaging |
Het |
| Ccdc17 |
T |
G |
4: 116,456,789 (GRCm39) |
N497K |
probably damaging |
Het |
| Chek2 |
T |
C |
5: 110,996,530 (GRCm39) |
I164T |
probably damaging |
Het |
| Cntnap5c |
T |
C |
17: 58,411,765 (GRCm39) |
|
probably null |
Het |
| Cntnap5c |
T |
A |
17: 58,505,984 (GRCm39) |
D669E |
probably benign |
Het |
| Cpsf6 |
A |
G |
10: 117,195,033 (GRCm39) |
I482T |
probably damaging |
Het |
| Csf3 |
C |
T |
11: 98,592,483 (GRCm39) |
S65L |
possibly damaging |
Het |
| Dlc1 |
A |
G |
8: 37,049,922 (GRCm39) |
Y1049H |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,050,422 (GRCm39) |
D3048G |
probably damaging |
Het |
| Eif4g3 |
T |
A |
4: 137,832,617 (GRCm39) |
|
probably benign |
Het |
| Epb41l4b |
T |
C |
4: 57,084,070 (GRCm39) |
K195R |
probably damaging |
Het |
| Epn1 |
T |
C |
7: 5,086,874 (GRCm39) |
S41P |
probably damaging |
Het |
| Fam120a |
C |
A |
13: 49,051,243 (GRCm39) |
V721L |
probably benign |
Het |
| Fchsd1 |
T |
A |
18: 38,100,729 (GRCm39) |
|
probably null |
Het |
| Fer1l6 |
G |
A |
15: 58,430,155 (GRCm39) |
G194D |
probably damaging |
Het |
| Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
| Fyb1 |
A |
C |
15: 6,674,268 (GRCm39) |
T635P |
possibly damaging |
Het |
| Gpr153 |
A |
G |
4: 152,367,810 (GRCm39) |
S554G |
probably benign |
Het |
| Grm1 |
A |
G |
10: 10,622,347 (GRCm39) |
F459L |
probably damaging |
Het |
| H60c |
C |
T |
10: 3,209,972 (GRCm39) |
G105D |
probably damaging |
Het |
| Ifnlr1 |
T |
A |
4: 135,433,148 (GRCm39) |
M528K |
possibly damaging |
Het |
| Lama4 |
A |
T |
10: 38,945,987 (GRCm39) |
D790V |
probably damaging |
Het |
| Mfsd13b |
T |
C |
7: 120,591,139 (GRCm39) |
|
probably benign |
Het |
| Mis12 |
T |
A |
11: 70,916,132 (GRCm39) |
I55N |
probably damaging |
Het |
| Morn1 |
T |
C |
4: 155,175,399 (GRCm39) |
Y103H |
probably damaging |
Het |
| Mrgpra2b |
C |
T |
7: 47,113,908 (GRCm39) |
V249I |
probably benign |
Het |
| Ndst3 |
C |
A |
3: 123,465,864 (GRCm39) |
G36V |
probably benign |
Het |
| Nlrp4a |
T |
A |
7: 26,149,611 (GRCm39) |
M406K |
probably damaging |
Het |
| Or4p18 |
T |
C |
2: 88,232,568 (GRCm39) |
T237A |
probably damaging |
Het |
| Or51t4 |
T |
A |
7: 102,598,170 (GRCm39) |
V156E |
probably damaging |
Het |
| Or5b106 |
A |
T |
19: 13,124,041 (GRCm39) |
|
probably benign |
Het |
| Or7g32 |
A |
T |
9: 19,408,131 (GRCm39) |
D29V |
probably benign |
Het |
| Or9m1 |
T |
C |
2: 87,733,141 (GRCm39) |
N293S |
probably damaging |
Het |
| Pars2 |
A |
G |
4: 106,510,814 (GRCm39) |
T199A |
probably damaging |
Het |
| Plcb4 |
C |
T |
2: 135,780,191 (GRCm39) |
T172I |
probably damaging |
Het |
| Pomgnt2 |
A |
T |
9: 121,811,354 (GRCm39) |
W476R |
probably benign |
Het |
| Psg23 |
T |
A |
7: 18,348,703 (GRCm39) |
S35C |
possibly damaging |
Het |
| Pycr3 |
T |
A |
15: 75,791,144 (GRCm39) |
|
probably null |
Het |
| Rab3gap1 |
T |
C |
1: 127,865,727 (GRCm39) |
V764A |
possibly damaging |
Het |
| Rgs2 |
A |
G |
1: 143,877,960 (GRCm39) |
F80S |
probably damaging |
Het |
| Sall1 |
A |
G |
8: 89,759,429 (GRCm39) |
L225P |
probably benign |
Het |
| Setd3 |
A |
G |
12: 108,079,651 (GRCm39) |
I284T |
possibly damaging |
Het |
| Slc4a9 |
C |
T |
18: 36,663,846 (GRCm39) |
T290I |
possibly damaging |
Het |
| Tmem87b |
T |
C |
2: 128,673,509 (GRCm39) |
V251A |
probably damaging |
Het |
| Ube3b |
T |
C |
5: 114,525,294 (GRCm39) |
L39P |
probably damaging |
Het |
| Ubr2 |
C |
A |
17: 47,296,973 (GRCm39) |
R269L |
probably damaging |
Het |
| Vrk2 |
A |
T |
11: 26,497,914 (GRCm39) |
I90K |
probably benign |
Het |
| Zer1 |
G |
A |
2: 29,998,286 (GRCm39) |
L342F |
probably damaging |
Het |
| Zfp984 |
A |
T |
4: 147,839,796 (GRCm39) |
C352S |
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 |
|
|
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 |
|
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 |
|
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 |
PCR Primer
(F):5'- TTTGTGGACTCGCAGCATC -3'
(R):5'- GGTAGCGAACACATTTCCCC -3'
Sequencing Primer
(F):5'- TCAGCACAGTGCCTACGTC -3'
(R):5'- ATCGCTGAGGTTAAATCACCCTG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation