Incidental Mutation 'R5915:Alox12e'
ID |
461273 |
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 |
044112-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5915 (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 70209050 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 399
(I399V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000019051
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019051]
|
AlphaFold |
P55249 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019051
AA Change: I399V
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000019051 Gene: ENSMUSG00000018907 AA Change: I399V
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
Validation Efficiency |
98% (60/61) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
A |
6: 121,644,122 (GRCm39) |
V940E |
probably damaging |
Het |
Adgrg7 |
A |
T |
16: 56,550,748 (GRCm39) |
|
probably null |
Het |
Apoa5 |
C |
A |
9: 46,180,607 (GRCm39) |
Q42K |
probably damaging |
Het |
Arfgap1 |
A |
G |
2: 180,620,215 (GRCm39) |
Y243C |
possibly damaging |
Het |
Arhgap12 |
A |
G |
18: 6,037,016 (GRCm39) |
|
probably null |
Het |
Arl16 |
G |
A |
11: 120,357,431 (GRCm39) |
|
probably benign |
Het |
Atp8b5 |
A |
G |
4: 43,370,577 (GRCm39) |
D951G |
probably damaging |
Het |
Babam2 |
T |
A |
5: 31,942,955 (GRCm39) |
L80Q |
probably damaging |
Het |
Celsr1 |
C |
T |
15: 85,822,176 (GRCm39) |
V1714I |
probably benign |
Het |
Celsr1 |
C |
T |
15: 85,914,550 (GRCm39) |
R1141H |
probably damaging |
Het |
Cep295 |
A |
G |
9: 15,252,775 (GRCm39) |
L351P |
probably damaging |
Het |
Dlc1 |
T |
A |
8: 37,405,829 (GRCm39) |
|
probably benign |
Het |
Dpy30 |
G |
T |
17: 74,622,906 (GRCm39) |
D25E |
probably benign |
Het |
Drosha |
T |
C |
15: 12,935,152 (GRCm39) |
W998R |
probably damaging |
Het |
Fibp |
A |
G |
19: 5,513,644 (GRCm39) |
D220G |
possibly damaging |
Het |
Grm3 |
C |
T |
5: 9,561,927 (GRCm39) |
C641Y |
probably damaging |
Het |
Gulo |
A |
T |
14: 66,245,570 (GRCm39) |
V8D |
probably benign |
Het |
Ifrd1 |
A |
T |
12: 40,263,095 (GRCm39) |
C164S |
possibly damaging |
Het |
Jam2 |
G |
A |
16: 84,606,295 (GRCm39) |
S103N |
probably benign |
Het |
Krtap17-1 |
T |
C |
11: 99,884,444 (GRCm39) |
T108A |
unknown |
Het |
Man2a2 |
A |
G |
7: 80,010,669 (GRCm39) |
F774S |
probably benign |
Het |
Map1b |
G |
A |
13: 99,566,839 (GRCm39) |
R1961W |
unknown |
Het |
Mib2 |
A |
G |
4: 155,740,508 (GRCm39) |
|
probably benign |
Het |
Mr1 |
A |
T |
1: 155,012,534 (GRCm39) |
F127I |
probably damaging |
Het |
Mrgprb2 |
A |
G |
7: 48,202,554 (GRCm39) |
I57T |
probably benign |
Het |
Ncan |
G |
T |
8: 70,550,731 (GRCm39) |
Y1154* |
probably null |
Het |
Nfx1 |
T |
A |
4: 40,977,285 (GRCm39) |
S320T |
probably benign |
Het |
Nlrp4f |
A |
G |
13: 65,335,369 (GRCm39) |
L740P |
probably damaging |
Het |
Nprl2 |
T |
C |
9: 107,422,277 (GRCm39) |
|
probably benign |
Het |
Opn1sw |
A |
G |
6: 29,379,754 (GRCm39) |
|
probably null |
Het |
Or5bw2 |
A |
T |
7: 6,573,172 (GRCm39) |
I61F |
probably benign |
Het |
Palld |
A |
G |
8: 61,986,386 (GRCm39) |
|
probably null |
Het |
Phf14 |
T |
A |
6: 11,933,726 (GRCm39) |
M196K |
possibly damaging |
Het |
Rnf145 |
T |
C |
11: 44,433,549 (GRCm39) |
|
probably null |
Het |
Sbf2 |
A |
T |
7: 109,977,303 (GRCm39) |
C610* |
probably null |
Het |
Sec24a |
C |
T |
11: 51,646,964 (GRCm39) |
A13T |
probably benign |
Het |
Smim8 |
TCTCCTC |
TCTC |
4: 34,769,010 (GRCm39) |
|
probably benign |
Het |
Sox8 |
A |
C |
17: 25,786,443 (GRCm39) |
L420R |
probably damaging |
Het |
Sry |
C |
G |
Y: 2,662,612 (GRCm39) |
Q349H |
unknown |
Het |
Sspo |
A |
G |
6: 48,441,530 (GRCm39) |
D1889G |
probably benign |
Het |
Sspo |
A |
T |
6: 48,468,418 (GRCm39) |
H4382L |
possibly damaging |
Het |
Tmem65 |
T |
C |
15: 58,662,037 (GRCm39) |
I141V |
probably damaging |
Het |
Tpr |
A |
T |
1: 150,301,400 (GRCm39) |
T1329S |
probably benign |
Het |
Trim17 |
C |
T |
11: 58,859,388 (GRCm39) |
R201W |
probably damaging |
Het |
Trim3 |
A |
G |
7: 105,267,182 (GRCm39) |
L399P |
possibly damaging |
Het |
Trim7 |
A |
G |
11: 48,736,477 (GRCm39) |
D277G |
possibly damaging |
Het |
Vstm2b |
A |
G |
7: 40,552,107 (GRCm39) |
N153S |
possibly damaging |
Het |
Wnk2 |
G |
T |
13: 49,231,561 (GRCm39) |
Q786K |
probably damaging |
Het |
Wnk4 |
A |
G |
11: 101,154,720 (GRCm39) |
*286W |
probably null |
Het |
Xpot |
A |
T |
10: 121,450,998 (GRCm39) |
L134Q |
probably damaging |
Het |
Ylpm1 |
C |
T |
12: 85,087,660 (GRCm39) |
P1148L |
probably damaging |
Het |
Zc3h7a |
G |
A |
16: 10,982,466 (GRCm39) |
Q20* |
probably null |
Het |
Zfp599 |
C |
T |
9: 22,161,130 (GRCm39) |
C345Y |
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 |
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 |
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'- TGACTGCTGGAATTACGATAGC -3'
Sequencing Primer
(F):5'- CCATTCAAGTATGAGGCGAGAGAAG -3'
(R):5'- AGTAGTAAAACCCTGACCCTTTG -3'
|
Posted On |
2017-02-28 |