Incidental Mutation 'R0593:Alox12e'
ID |
56065 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Alox12e
|
Ensembl Gene |
ENSMUSG00000018907 |
Gene Name |
arachidonate lipoxygenase, epidermal |
Synonyms |
8-LOX, Aloxe, Alox12-ps2, e-LOX1, Alox12-ps1 |
MMRRC Submission |
038783-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0593 (G1)
|
Quality Score |
207 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
70206436-70213454 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 70211723 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000019051
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019051]
|
AlphaFold |
P55249 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019051
|
SMART Domains |
Protein: ENSMUSP00000019051 Gene: ENSMUSG00000018907
Domain | Start | End | E-Value | Type |
LH2
|
2 |
111 |
9.49e-38 |
SMART |
Pfam:Lipoxygenase
|
163 |
649 |
1.2e-60 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123752
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139899
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149060
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 93.4%
|
Validation Efficiency |
100% (39/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
T |
C |
11: 109,958,925 (GRCm39) |
D733G |
probably damaging |
Het |
Acmsd |
T |
C |
1: 127,666,340 (GRCm39) |
|
probably benign |
Het |
Adam34 |
T |
C |
8: 44,104,724 (GRCm39) |
Y307C |
possibly damaging |
Het |
Ankrd50 |
C |
A |
3: 38,537,156 (GRCm39) |
G29* |
probably null |
Het |
Arhgap17 |
T |
C |
7: 122,885,966 (GRCm39) |
|
probably benign |
Het |
Asah1 |
A |
G |
8: 41,802,619 (GRCm39) |
M141T |
probably benign |
Het |
Atg2a |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
19: 6,295,037 (GRCm39) |
|
probably benign |
Het |
Bsn |
A |
T |
9: 107,987,505 (GRCm39) |
I2749N |
unknown |
Het |
Cds2 |
G |
A |
2: 132,139,296 (GRCm39) |
|
probably benign |
Het |
Ckmt2 |
A |
G |
13: 92,001,757 (GRCm39) |
V384A |
probably damaging |
Het |
Clock |
A |
G |
5: 76,413,683 (GRCm39) |
S71P |
probably benign |
Het |
Cops6 |
A |
G |
5: 138,161,842 (GRCm39) |
T96A |
probably benign |
Het |
Csnka2ip |
A |
T |
16: 64,298,975 (GRCm39) |
V19D |
probably damaging |
Het |
Dcaf17 |
T |
A |
2: 70,917,744 (GRCm39) |
|
probably null |
Het |
Dscam |
T |
C |
16: 96,573,608 (GRCm39) |
K785E |
probably benign |
Het |
Eif2d |
T |
A |
1: 131,083,465 (GRCm39) |
|
probably benign |
Het |
Gal3st2b |
T |
C |
1: 93,868,549 (GRCm39) |
V258A |
probably benign |
Het |
Gucy2c |
T |
C |
6: 136,705,333 (GRCm39) |
N534S |
probably damaging |
Het |
Hook1 |
C |
T |
4: 95,887,023 (GRCm39) |
T210I |
possibly damaging |
Het |
Ifi203 |
T |
C |
1: 173,756,215 (GRCm39) |
|
probably benign |
Het |
Irf7 |
T |
C |
7: 140,844,975 (GRCm39) |
|
probably benign |
Het |
Lrp2 |
C |
T |
2: 69,297,350 (GRCm39) |
V3204I |
probably benign |
Het |
Mtx2 |
A |
G |
2: 74,699,780 (GRCm39) |
|
probably benign |
Het |
Nelfcd |
G |
T |
2: 174,265,223 (GRCm39) |
V248L |
probably benign |
Het |
Oosp1 |
T |
C |
19: 11,645,776 (GRCm39) |
S121G |
probably benign |
Het |
Or10am5 |
T |
A |
7: 6,517,808 (GRCm39) |
N207Y |
probably benign |
Het |
Sec16b |
G |
C |
1: 157,359,718 (GRCm39) |
G164R |
probably benign |
Het |
Slc22a14 |
T |
A |
9: 118,998,919 (GRCm39) |
D561V |
probably benign |
Het |
Tet2 |
G |
A |
3: 133,193,870 (GRCm39) |
T188I |
probably benign |
Het |
Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
Trp53bp1 |
A |
G |
2: 121,101,009 (GRCm39) |
V63A |
possibly damaging |
Het |
Ube2d2a |
T |
G |
18: 35,903,438 (GRCm39) |
|
probably benign |
Het |
Vmn1r113 |
T |
A |
7: 20,521,388 (GRCm39) |
V60E |
probably damaging |
Het |
|
Other mutations in Alox12e |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00837:Alox12e
|
APN |
11 |
70,211,880 (GRCm39) |
missense |
probably benign |
|
IGL01781:Alox12e
|
APN |
11 |
70,212,282 (GRCm39) |
missense |
probably damaging |
1.00 |
R0284:Alox12e
|
UTSW |
11 |
70,211,725 (GRCm39) |
splice site |
probably benign |
|
R0417:Alox12e
|
UTSW |
11 |
70,212,691 (GRCm39) |
missense |
probably benign |
0.12 |
R0557:Alox12e
|
UTSW |
11 |
70,212,274 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1479:Alox12e
|
UTSW |
11 |
70,211,608 (GRCm39) |
missense |
probably benign |
0.04 |
R1967:Alox12e
|
UTSW |
11 |
70,208,682 (GRCm39) |
missense |
probably benign |
0.18 |
R1996:Alox12e
|
UTSW |
11 |
70,207,034 (GRCm39) |
missense |
probably benign |
0.00 |
R2062:Alox12e
|
UTSW |
11 |
70,206,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R2063:Alox12e
|
UTSW |
11 |
70,206,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R2067:Alox12e
|
UTSW |
11 |
70,206,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R2068:Alox12e
|
UTSW |
11 |
70,206,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R2147:Alox12e
|
UTSW |
11 |
70,210,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R2307:Alox12e
|
UTSW |
11 |
70,212,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R3034:Alox12e
|
UTSW |
11 |
70,207,079 (GRCm39) |
missense |
probably benign |
0.01 |
R3739:Alox12e
|
UTSW |
11 |
70,210,668 (GRCm39) |
missense |
probably damaging |
1.00 |
R4463:Alox12e
|
UTSW |
11 |
70,209,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R4572:Alox12e
|
UTSW |
11 |
70,212,007 (GRCm39) |
intron |
probably benign |
|
R5004:Alox12e
|
UTSW |
11 |
70,212,330 (GRCm39) |
missense |
probably benign |
0.00 |
R5113:Alox12e
|
UTSW |
11 |
70,206,821 (GRCm39) |
missense |
possibly damaging |
0.70 |
R5155:Alox12e
|
UTSW |
11 |
70,207,081 (GRCm39) |
missense |
possibly damaging |
0.61 |
R5464:Alox12e
|
UTSW |
11 |
70,208,505 (GRCm39) |
missense |
probably damaging |
0.99 |
R5471:Alox12e
|
UTSW |
11 |
70,210,850 (GRCm39) |
missense |
probably benign |
0.17 |
R5501:Alox12e
|
UTSW |
11 |
70,207,055 (GRCm39) |
missense |
probably benign |
0.01 |
R5915:Alox12e
|
UTSW |
11 |
70,209,050 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6033:Alox12e
|
UTSW |
11 |
70,206,839 (GRCm39) |
missense |
probably benign |
0.03 |
R6033:Alox12e
|
UTSW |
11 |
70,206,839 (GRCm39) |
missense |
probably benign |
0.03 |
R6102:Alox12e
|
UTSW |
11 |
70,210,849 (GRCm39) |
missense |
possibly damaging |
0.65 |
R6380:Alox12e
|
UTSW |
11 |
70,211,927 (GRCm39) |
missense |
probably benign |
0.00 |
R6452:Alox12e
|
UTSW |
11 |
70,210,831 (GRCm39) |
missense |
probably damaging |
0.96 |
R7175:Alox12e
|
UTSW |
11 |
70,210,534 (GRCm39) |
missense |
probably damaging |
1.00 |
R7220:Alox12e
|
UTSW |
11 |
70,206,731 (GRCm39) |
missense |
probably benign |
0.02 |
R7353:Alox12e
|
UTSW |
11 |
70,212,261 (GRCm39) |
missense |
probably damaging |
1.00 |
R7542:Alox12e
|
UTSW |
11 |
70,212,582 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7916:Alox12e
|
UTSW |
11 |
70,212,111 (GRCm39) |
missense |
probably benign |
|
R8314:Alox12e
|
UTSW |
11 |
70,206,998 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8331:Alox12e
|
UTSW |
11 |
70,211,923 (GRCm39) |
missense |
probably benign |
0.01 |
R9027:Alox12e
|
UTSW |
11 |
70,212,600 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9380:Alox12e
|
UTSW |
11 |
70,206,994 (GRCm39) |
critical splice donor site |
probably null |
|
R9641:Alox12e
|
UTSW |
11 |
70,212,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCATAAGCTAAACAGAGGCAGCTC -3'
(R):5'- TGCACGGTGTTCTTTGCACAGG -3'
Sequencing Primer
(F):5'- AGGCAGCTCAGCACCTTG -3'
(R):5'- TGCACAGGTTGAAGAACTTTGC -3'
|
Posted On |
2013-07-11 |