Incidental Mutation 'IGL00837:Alox12e'
| ID |
8806 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Alox12e
|
| Ensembl Gene |
ENSMUSG00000018907 |
| Gene Name |
arachidonate lipoxygenase, epidermal |
| Synonyms |
8-LOX, Aloxe, Alox12-ps2, e-LOX1, Alox12-ps1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00837
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
70206436-70213454 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70211880 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 210
(T210A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019051
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019051]
|
| AlphaFold |
P55249 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019051
AA Change: T210A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000019051
Gene: ENSMUSG00000018907
AA Change: T210A
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcyap1r1 |
T |
C |
6: 55,438,605 (GRCm39) |
|
probably benign |
Het |
| Adig |
T |
A |
2: 158,344,709 (GRCm39) |
F16Y |
possibly damaging |
Het |
| Ankfy1 |
T |
A |
11: 72,646,724 (GRCm39) |
|
probably benign |
Het |
| Aoc1 |
T |
A |
6: 48,885,598 (GRCm39) |
I701N |
possibly damaging |
Het |
| Armc1 |
A |
C |
3: 19,198,584 (GRCm39) |
N125K |
probably benign |
Het |
| Bcl2a1c |
A |
T |
9: 114,159,560 (GRCm39) |
T113S |
probably benign |
Het |
| Cdh10 |
A |
T |
15: 19,013,490 (GRCm39) |
I697L |
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,829,137 (GRCm39) |
S256T |
probably damaging |
Het |
| Chd6 |
T |
C |
2: 160,883,999 (GRCm39) |
N82S |
probably benign |
Het |
| Gart |
T |
C |
16: 91,435,608 (GRCm39) |
|
probably benign |
Het |
| Gtf3c6 |
A |
G |
10: 40,130,470 (GRCm39) |
|
probably benign |
Het |
| Igf1r |
T |
C |
7: 67,851,100 (GRCm39) |
|
probably benign |
Het |
| Mtmr6 |
T |
A |
14: 60,517,666 (GRCm39) |
Y92* |
probably null |
Het |
| Muc13 |
A |
T |
16: 33,628,329 (GRCm39) |
K360* |
probably null |
Het |
| Nfyc |
A |
G |
4: 120,638,744 (GRCm39) |
|
probably benign |
Het |
| Pole |
T |
A |
5: 110,449,875 (GRCm39) |
V774E |
possibly damaging |
Het |
| Rnf217 |
A |
G |
10: 31,379,770 (GRCm39) |
L484P |
probably damaging |
Het |
| Slc18a2 |
A |
T |
19: 59,272,816 (GRCm39) |
I373F |
probably benign |
Het |
| Slc5a9 |
A |
G |
4: 111,750,887 (GRCm39) |
|
probably benign |
Het |
| Tbc1d30 |
T |
C |
10: 121,132,750 (GRCm39) |
I205V |
probably damaging |
Het |
| Tfap2d |
A |
T |
1: 19,189,430 (GRCm39) |
D270V |
probably damaging |
Het |
| Tmem63c |
G |
A |
12: 87,123,971 (GRCm39) |
S483N |
probably benign |
Het |
| Tor1aip1 |
T |
A |
1: 155,882,662 (GRCm39) |
|
probably benign |
Het |
| Tsga10 |
A |
C |
1: 37,840,992 (GRCm39) |
|
probably benign |
Het |
| Ttc21b |
A |
T |
2: 66,065,915 (GRCm39) |
|
probably null |
Het |
| Wdr89 |
A |
T |
12: 75,679,825 (GRCm39) |
L143* |
probably null |
Het |
|
| Other mutations in Alox12e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation