Incidental Mutation 'R3739:Alox12e'
ID |
270302 |
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 |
040725-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3739 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
70206436-70213454 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 70210668 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 318
(L318P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000019051
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019051]
|
AlphaFold |
P55249 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000019051
AA Change: L318P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000019051 Gene: ENSMUSG00000018907 AA Change: L318P
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
98% (49/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik2 |
A |
T |
11: 48,910,108 (GRCm39) |
L775* |
probably null |
Het |
Abcb8 |
A |
G |
5: 24,605,619 (GRCm39) |
S168G |
probably benign |
Het |
Ahnak2 |
T |
C |
12: 112,740,992 (GRCm39) |
I1027V |
probably benign |
Het |
Ankrd11 |
A |
G |
8: 123,623,454 (GRCm39) |
|
probably benign |
Het |
Anks1b |
T |
A |
10: 89,869,078 (GRCm39) |
I46N |
probably damaging |
Het |
Apoa5 |
G |
C |
9: 46,180,415 (GRCm39) |
W7S |
probably damaging |
Het |
Arnt2 |
T |
C |
7: 83,993,009 (GRCm39) |
H177R |
probably null |
Het |
Cacna1c |
T |
C |
6: 118,718,913 (GRCm39) |
D220G |
probably benign |
Het |
Dst |
C |
T |
1: 34,307,975 (GRCm39) |
|
probably benign |
Het |
Eml6 |
C |
A |
11: 29,753,137 (GRCm39) |
V925L |
probably benign |
Het |
Fbll1 |
G |
A |
11: 35,688,505 (GRCm39) |
H253Y |
possibly damaging |
Het |
Galnt1 |
A |
G |
18: 24,404,712 (GRCm39) |
T350A |
probably benign |
Het |
Gbp10 |
T |
A |
5: 105,372,324 (GRCm39) |
E145D |
possibly damaging |
Het |
Gfm1 |
T |
C |
3: 67,364,033 (GRCm39) |
I503T |
probably damaging |
Het |
Hmcn2 |
A |
T |
2: 31,226,624 (GRCm39) |
K200* |
probably null |
Het |
Ifi203 |
T |
A |
1: 173,757,040 (GRCm39) |
|
probably benign |
Het |
Itgbl1 |
T |
C |
14: 124,204,090 (GRCm39) |
F394L |
probably damaging |
Het |
Itpkc |
T |
A |
7: 26,927,029 (GRCm39) |
D295V |
possibly damaging |
Het |
Klra17 |
T |
A |
6: 129,850,328 (GRCm39) |
I41F |
probably benign |
Het |
Lcorl |
A |
T |
5: 45,891,383 (GRCm39) |
N323K |
possibly damaging |
Het |
Ltbp2 |
A |
T |
12: 84,851,248 (GRCm39) |
C836S |
probably damaging |
Het |
Mfsd2b |
A |
G |
12: 4,920,578 (GRCm39) |
S80P |
probably damaging |
Het |
Ms4a18 |
A |
T |
19: 10,988,863 (GRCm39) |
H164Q |
probably damaging |
Het |
Mybbp1a |
A |
G |
11: 72,339,563 (GRCm39) |
H882R |
possibly damaging |
Het |
Myh9 |
G |
A |
15: 77,651,012 (GRCm39) |
R1612C |
probably damaging |
Het |
Myo18a |
A |
G |
11: 77,736,441 (GRCm39) |
D1514G |
probably damaging |
Het |
Nsun2 |
T |
C |
13: 69,777,757 (GRCm39) |
I441T |
probably benign |
Het |
Ntng1 |
A |
T |
3: 109,842,007 (GRCm39) |
D255E |
probably damaging |
Het |
Or2y1 |
A |
G |
11: 49,386,287 (GRCm39) |
D309G |
possibly damaging |
Het |
Osbpl2 |
G |
A |
2: 179,803,353 (GRCm39) |
R475H |
probably damaging |
Het |
Pclo |
A |
C |
5: 14,730,913 (GRCm39) |
K3138N |
unknown |
Het |
Pcsk7 |
A |
G |
9: 45,838,057 (GRCm39) |
T572A |
possibly damaging |
Het |
Pex11a |
C |
T |
7: 79,389,918 (GRCm39) |
R56H |
possibly damaging |
Het |
Pnma8b |
C |
T |
7: 16,680,521 (GRCm39) |
H502Y |
probably benign |
Het |
Saa4 |
T |
A |
7: 46,379,053 (GRCm39) |
N96Y |
possibly damaging |
Het |
Serpinb6d |
T |
A |
13: 33,851,663 (GRCm39) |
V140E |
probably damaging |
Het |
Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
St18 |
G |
A |
1: 6,925,697 (GRCm39) |
|
probably null |
Het |
Taf3 |
T |
C |
2: 9,956,469 (GRCm39) |
E566G |
possibly damaging |
Het |
Tnr |
T |
C |
1: 159,750,983 (GRCm39) |
S1315P |
possibly damaging |
Het |
Trappc11 |
T |
C |
8: 47,967,138 (GRCm39) |
E412G |
probably damaging |
Het |
Trpc2 |
G |
A |
7: 101,733,711 (GRCm39) |
S220N |
probably damaging |
Het |
Trpm7 |
A |
G |
2: 126,693,441 (GRCm39) |
V48A |
probably damaging |
Het |
Tubb6 |
A |
G |
18: 67,535,121 (GRCm39) |
Y340C |
probably damaging |
Het |
Vmn1r197 |
C |
A |
13: 22,512,746 (GRCm39) |
Y222* |
probably null |
Het |
Vmn2r97 |
T |
C |
17: 19,148,413 (GRCm39) |
S103P |
probably damaging |
Het |
Zfp362 |
C |
G |
4: 128,680,682 (GRCm39) |
|
probably benign |
Het |
Zfp423 |
A |
G |
8: 88,507,972 (GRCm39) |
C666R |
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 |
R0593:Alox12e
|
UTSW |
11 |
70,211,723 (GRCm39) |
splice site |
probably benign |
|
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 |
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'- AACTCCTCATTGTGGCCACAG -3'
(R):5'- ATTTCTCCCTGCTGGATGGAG -3'
Sequencing Primer
(F):5'- TTGTGGCCACAGAAATAACCTCG -3'
(R):5'- CTGCTGGATGGAGTCAAACCTAAC -3'
|
Posted On |
2015-03-18 |