Incidental Mutation 'R4463:Alox12e'
ID |
381228 |
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 |
041721-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4463 (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 70209082 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 388
(L388P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000019051
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019051]
|
AlphaFold |
P55249 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000019051
AA Change: L388P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000019051 Gene: ENSMUSG00000018907 AA Change: L388P
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: 98.5%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
100% (57/57) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
T |
C |
5: 8,769,981 (GRCm39) |
|
probably benign |
Het |
Abcc8 |
T |
C |
7: 45,756,005 (GRCm39) |
|
probably null |
Het |
Aspm |
T |
A |
1: 139,382,748 (GRCm39) |
S27T |
possibly damaging |
Het |
Capn2 |
G |
A |
1: 182,307,329 (GRCm39) |
|
probably benign |
Het |
Catspere1 |
G |
A |
1: 177,765,279 (GRCm39) |
|
noncoding transcript |
Het |
Ccdc158 |
T |
C |
5: 92,782,159 (GRCm39) |
D820G |
probably null |
Het |
Cdkn2d |
C |
G |
9: 21,202,185 (GRCm39) |
V21L |
probably benign |
Het |
Chd9 |
T |
A |
8: 91,705,627 (GRCm39) |
D761E |
probably benign |
Het |
Chst8 |
T |
C |
7: 34,374,645 (GRCm39) |
D398G |
probably damaging |
Het |
Clns1a |
T |
C |
7: 97,370,156 (GRCm39) |
|
probably benign |
Het |
Cyp3a57 |
A |
T |
5: 145,318,084 (GRCm39) |
Y355F |
probably damaging |
Het |
Cyp4f37 |
A |
G |
17: 32,846,710 (GRCm39) |
|
probably null |
Het |
Eif1ad11 |
A |
G |
12: 87,994,129 (GRCm39) |
D119G |
probably benign |
Het |
Eipr1 |
G |
A |
12: 28,909,338 (GRCm39) |
A202T |
probably damaging |
Het |
Fam83a |
T |
C |
15: 57,858,655 (GRCm39) |
S232P |
probably damaging |
Het |
Fastkd2 |
C |
T |
1: 63,774,968 (GRCm39) |
|
probably benign |
Het |
Fcgbpl1 |
A |
G |
7: 27,850,144 (GRCm39) |
M1197V |
probably benign |
Het |
Fgfr4 |
G |
A |
13: 55,304,280 (GRCm39) |
V107I |
probably benign |
Het |
Gatad1 |
G |
T |
5: 3,697,404 (GRCm39) |
S72R |
probably benign |
Het |
Gli2 |
T |
C |
1: 118,763,738 (GRCm39) |
D1471G |
probably damaging |
Het |
Gm1330 |
A |
T |
2: 148,845,064 (GRCm39) |
Y36* |
probably null |
Het |
Gm29125 |
T |
C |
1: 80,360,903 (GRCm39) |
|
noncoding transcript |
Het |
Idi1 |
G |
A |
13: 8,937,508 (GRCm39) |
|
probably benign |
Het |
Itgbl1 |
C |
T |
14: 124,078,080 (GRCm39) |
T190I |
probably damaging |
Het |
Kbtbd3 |
G |
A |
9: 4,331,257 (GRCm39) |
G544R |
probably damaging |
Het |
Kifc3 |
T |
C |
8: 95,828,744 (GRCm39) |
T638A |
probably damaging |
Het |
Lama1 |
G |
A |
17: 68,068,695 (GRCm39) |
C798Y |
probably damaging |
Het |
Larp6 |
C |
A |
9: 60,644,279 (GRCm39) |
H140N |
probably damaging |
Het |
Mctp1 |
A |
T |
13: 76,860,206 (GRCm39) |
D108V |
probably damaging |
Het |
Myzap |
G |
T |
9: 71,462,933 (GRCm39) |
D204E |
probably benign |
Het |
Neb |
GCC |
GC |
2: 52,169,734 (GRCm39) |
|
probably null |
Het |
Or13p8 |
T |
C |
4: 118,583,855 (GRCm39) |
V137A |
probably benign |
Het |
Or1j20 |
T |
C |
2: 36,760,205 (GRCm39) |
I209T |
probably benign |
Het |
Or4c102 |
T |
C |
2: 88,422,976 (GRCm39) |
V276A |
possibly damaging |
Het |
Phka1 |
A |
G |
X: 101,588,990 (GRCm39) |
V818A |
probably benign |
Het |
Plek |
T |
C |
11: 16,931,873 (GRCm39) |
Y326C |
possibly damaging |
Het |
Pp2d1 |
A |
G |
17: 53,822,886 (GRCm39) |
I60T |
probably benign |
Het |
Prmt3 |
T |
C |
7: 49,467,837 (GRCm39) |
Y348H |
probably damaging |
Het |
Psg27 |
G |
T |
7: 18,291,010 (GRCm39) |
Q398K |
possibly damaging |
Het |
Raver1 |
T |
C |
9: 21,003,123 (GRCm39) |
T51A |
probably benign |
Het |
Ripk2 |
T |
C |
4: 16,151,968 (GRCm39) |
N197S |
possibly damaging |
Het |
Sectm1a |
T |
A |
11: 120,960,477 (GRCm39) |
I113L |
probably benign |
Het |
Slc2a4 |
G |
A |
11: 69,834,148 (GRCm39) |
|
probably benign |
Het |
Snph |
A |
T |
2: 151,436,035 (GRCm39) |
S229T |
probably damaging |
Het |
Stpg4 |
A |
G |
17: 87,697,101 (GRCm39) |
F183L |
probably benign |
Het |
Tango6 |
A |
T |
8: 107,415,706 (GRCm39) |
T176S |
probably benign |
Het |
Vmn1r196 |
A |
G |
13: 22,477,853 (GRCm39) |
Q164R |
probably benign |
Het |
Vstm4 |
T |
A |
14: 32,639,833 (GRCm39) |
L236Q |
probably damaging |
Het |
Xylb |
A |
G |
9: 119,215,433 (GRCm39) |
D462G |
probably benign |
Het |
Zc2hc1c |
A |
G |
12: 85,337,071 (GRCm39) |
R243G |
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 |
R3739:Alox12e
|
UTSW |
11 |
70,210,668 (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'- GGCCATTCAAGTATGAGGCG -3'
(R):5'- TGCTGGAATTACGATAGCAAACAC -3'
Sequencing Primer
(F):5'- CCTCCCGTGTAGAGCTGAGTTTG -3'
(R):5'- TACGATAGCAAACACAAAATTATGC -3'
|
Posted On |
2016-04-20 |