Incidental Mutation 'R3034:Alox12e'
ID |
264792 |
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 |
040550-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3034 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
70206436-70213454 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 70207079 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 576
(I576V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000019051
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019051]
|
AlphaFold |
P55249 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019051
AA Change: I576V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000019051 Gene: ENSMUSG00000018907 AA Change: I576V
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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
100% (44/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apol7a |
T |
G |
15: 77,273,923 (GRCm39) |
I180L |
probably benign |
Het |
Aptx |
T |
C |
4: 40,694,994 (GRCm39) |
N114S |
probably benign |
Het |
Bltp3a |
T |
A |
17: 28,113,720 (GRCm39) |
D1297E |
probably damaging |
Het |
Cd40 |
T |
A |
2: 164,904,235 (GRCm39) |
S65R |
probably benign |
Het |
Cdh23 |
C |
T |
10: 60,244,789 (GRCm39) |
|
probably benign |
Het |
Coro7 |
G |
A |
16: 4,450,155 (GRCm39) |
R565W |
probably damaging |
Het |
Cpt1a |
C |
T |
19: 3,428,390 (GRCm39) |
T588M |
probably damaging |
Het |
Defb23 |
A |
G |
2: 152,301,189 (GRCm39) |
S128P |
possibly damaging |
Het |
Dgki |
G |
A |
6: 37,064,605 (GRCm39) |
H250Y |
probably damaging |
Het |
Fgr |
T |
C |
4: 132,725,807 (GRCm39) |
|
probably null |
Het |
Fkbp15 |
T |
C |
4: 62,225,129 (GRCm39) |
|
probably null |
Het |
Gpr137c |
C |
T |
14: 45,457,733 (GRCm39) |
S95L |
probably damaging |
Het |
Kirrel1 |
T |
C |
3: 86,990,746 (GRCm39) |
D692G |
possibly damaging |
Het |
Krt1 |
C |
A |
15: 101,759,068 (GRCm39) |
R32L |
unknown |
Het |
Lama2 |
C |
T |
10: 26,877,231 (GRCm39) |
E2652K |
probably benign |
Het |
Mbl1 |
C |
A |
14: 40,880,790 (GRCm39) |
S226Y |
probably damaging |
Het |
Mrps28 |
T |
A |
3: 8,988,675 (GRCm39) |
D61V |
probably benign |
Het |
Mthfd1 |
A |
G |
12: 76,336,244 (GRCm39) |
K299E |
probably benign |
Het |
Myo1b |
A |
G |
1: 51,812,406 (GRCm39) |
Y738H |
possibly damaging |
Het |
Myo5c |
A |
G |
9: 75,193,859 (GRCm39) |
T1205A |
probably benign |
Het |
Nfatc2 |
C |
T |
2: 168,376,940 (GRCm39) |
G317S |
probably damaging |
Het |
Nln |
C |
T |
13: 104,173,947 (GRCm39) |
V525I |
possibly damaging |
Het |
Nrap |
T |
C |
19: 56,352,437 (GRCm39) |
E549G |
probably damaging |
Het |
Nwd2 |
T |
A |
5: 63,957,446 (GRCm39) |
Y259N |
probably damaging |
Het |
Oas3 |
T |
C |
5: 120,909,121 (GRCm39) |
D275G |
probably damaging |
Het |
Or14a256 |
A |
T |
7: 86,264,970 (GRCm39) |
D294E |
possibly damaging |
Het |
Ovch2 |
A |
G |
7: 107,384,699 (GRCm39) |
S473P |
probably damaging |
Het |
Pde8b |
T |
A |
13: 95,359,275 (GRCm39) |
Y16F |
probably damaging |
Het |
Pmfbp1 |
A |
T |
8: 110,247,553 (GRCm39) |
|
probably null |
Het |
Pmvk |
T |
C |
3: 89,375,824 (GRCm39) |
V74A |
probably damaging |
Het |
Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
Rbm26 |
T |
A |
14: 105,390,881 (GRCm39) |
T202S |
unknown |
Het |
Rheb |
C |
T |
5: 25,008,721 (GRCm39) |
E166K |
probably damaging |
Het |
Rnf5 |
A |
G |
17: 34,822,332 (GRCm39) |
V39A |
possibly damaging |
Het |
Scn7a |
T |
C |
2: 66,513,152 (GRCm39) |
Y1168C |
probably damaging |
Het |
Tas2r114 |
A |
G |
6: 131,666,611 (GRCm39) |
I139T |
probably benign |
Het |
Tma7 |
T |
C |
9: 108,911,274 (GRCm39) |
|
probably benign |
Het |
Tmem181a |
T |
A |
17: 6,330,901 (GRCm39) |
S13T |
possibly damaging |
Het |
Tmem62 |
C |
T |
2: 120,809,605 (GRCm39) |
|
probably benign |
Het |
Trim71 |
T |
C |
9: 114,341,912 (GRCm39) |
D790G |
probably damaging |
Het |
Trp53tg5 |
T |
C |
2: 164,313,219 (GRCm39) |
K152R |
probably benign |
Het |
Zdbf2 |
C |
A |
1: 63,343,364 (GRCm39) |
A581E |
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 |
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'- ATGGCTCAGGACATTGGGTC -3'
(R):5'- TCAGCACGCATCTACACATCTG -3'
Sequencing Primer
(F):5'- TGGGTCTCTCTCAGGCAAGAATAC -3'
(R):5'- CTACACATCTGGGTCAGGTAATCTG -3'
|
Posted On |
2015-02-05 |