Incidental Mutation 'IGL01629:Alox12'
ID |
92864 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Alox12
|
Ensembl Gene |
ENSMUSG00000000320 |
Gene Name |
arachidonate 12-lipoxygenase |
Synonyms |
9930022G08Rik, P-12LO, Alox12p |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.184)
|
Stock # |
IGL01629
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
70132283-70146179 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 70133660 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 555
(P555S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000000329
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000329]
[ENSMUST00000021180]
[ENSMUST00000021181]
[ENSMUST00000040428]
[ENSMUST00000102569]
[ENSMUST00000108575]
[ENSMUST00000108577]
[ENSMUST00000141880]
[ENSMUST00000176268]
[ENSMUST00000125752]
[ENSMUST00000108578]
[ENSMUST00000108579]
[ENSMUST00000176116]
|
AlphaFold |
P39655 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000000329
AA Change: P555S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000000329 Gene: ENSMUSG00000000320 AA Change: P555S
Domain | Start | End | E-Value | Type |
LH2
|
2 |
111 |
9.78e-40 |
SMART |
Pfam:Lipoxygenase
|
172 |
650 |
5.1e-63 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000021180
|
SMART Domains |
Protein: ENSMUSP00000021180 Gene: ENSMUSG00000020831
Domain | Start | End | E-Value | Type |
Blast:SANT
|
38 |
69 |
1e-16 |
BLAST |
SCOP:d1ba5__
|
41 |
59 |
9e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000021181
|
SMART Domains |
Protein: ENSMUSP00000021181 Gene: ENSMUSG00000020831
Domain | Start | End | E-Value | Type |
SANT
|
38 |
83 |
7.29e-1 |
SMART |
low complexity region
|
106 |
129 |
N/A |
INTRINSIC |
low complexity region
|
135 |
150 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000040428
|
SMART Domains |
Protein: ENSMUSP00000048271 Gene: ENSMUSG00000093989
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
transmembrane domain
|
65 |
87 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102569
|
SMART Domains |
Protein: ENSMUSP00000099629 Gene: ENSMUSG00000020831
Domain | Start | End | E-Value | Type |
low complexity region
|
72 |
95 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108575
|
SMART Domains |
Protein: ENSMUSP00000104215 Gene: ENSMUSG00000020831
Domain | Start | End | E-Value | Type |
low complexity region
|
72 |
95 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108577
|
SMART Domains |
Protein: ENSMUSP00000104218 Gene: ENSMUSG00000020831
Domain | Start | End | E-Value | Type |
low complexity region
|
72 |
95 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150504
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141880
|
SMART Domains |
Protein: ENSMUSP00000135383 Gene: ENSMUSG00000093989
Domain | Start | End | E-Value | Type |
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176268
|
SMART Domains |
Protein: ENSMUSP00000135088 Gene: ENSMUSG00000040904
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
transmembrane domain
|
65 |
87 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125752
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108578
|
SMART Domains |
Protein: ENSMUSP00000104219 Gene: ENSMUSG00000020831
Domain | Start | End | E-Value | Type |
SANT
|
38 |
83 |
7.29e-1 |
SMART |
low complexity region
|
106 |
129 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108579
|
SMART Domains |
Protein: ENSMUSP00000104220 Gene: ENSMUSG00000020831
Domain | Start | End | E-Value | Type |
low complexity region
|
72 |
95 |
N/A |
INTRINSIC |
low complexity region
|
101 |
116 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176116
|
SMART Domains |
Protein: ENSMUSP00000135134 Gene: ENSMUSG00000040904
Domain | Start | End | E-Value | Type |
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygotes for a targeted null mutation exhibit increased basal transepidermal water loss and hypersensitivity to adenosine 5'-diphosphate-induced platelet aggregation and mortality. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgra2 |
G |
A |
8: 27,608,761 (GRCm39) |
A540T |
possibly damaging |
Het |
Adm2 |
T |
A |
15: 89,207,605 (GRCm39) |
|
probably null |
Het |
Alpk2 |
A |
G |
18: 65,433,113 (GRCm39) |
S1798P |
probably damaging |
Het |
Amfr |
T |
A |
8: 94,714,136 (GRCm39) |
|
probably null |
Het |
Arhgef18 |
T |
A |
8: 3,431,942 (GRCm39) |
C168S |
possibly damaging |
Het |
Atxn7l3 |
A |
T |
11: 102,183,320 (GRCm39) |
|
probably benign |
Het |
Ccdc191 |
A |
G |
16: 43,779,663 (GRCm39) |
K707E |
possibly damaging |
Het |
Cdc5l |
G |
T |
17: 45,724,116 (GRCm39) |
D391E |
probably benign |
Het |
Cmtm2b |
T |
C |
8: 105,056,420 (GRCm39) |
S110P |
possibly damaging |
Het |
Cyp2j8 |
T |
C |
4: 96,387,840 (GRCm39) |
D207G |
probably damaging |
Het |
Ddhd2 |
A |
G |
8: 26,225,855 (GRCm39) |
F501L |
possibly damaging |
Het |
Dnaaf6rt |
T |
A |
1: 31,262,014 (GRCm39) |
|
probably null |
Het |
Dnah1 |
C |
T |
14: 31,014,277 (GRCm39) |
V1823M |
probably damaging |
Het |
Gjb4 |
T |
C |
4: 127,245,419 (GRCm39) |
D174G |
possibly damaging |
Het |
Gm45213 |
A |
G |
7: 65,711,962 (GRCm39) |
D58G |
probably damaging |
Het |
Hes1 |
C |
T |
16: 29,884,976 (GRCm39) |
|
probably benign |
Het |
Krt33b |
T |
A |
11: 99,920,386 (GRCm39) |
Q89L |
probably benign |
Het |
Llcfc1 |
C |
A |
6: 41,661,459 (GRCm39) |
S3Y |
possibly damaging |
Het |
Ltf |
A |
G |
9: 110,864,874 (GRCm39) |
N569S |
probably damaging |
Het |
Mknk1 |
T |
A |
4: 115,732,731 (GRCm39) |
W320R |
probably damaging |
Het |
Mrgprx3-ps |
T |
A |
7: 46,959,353 (GRCm39) |
K213* |
probably null |
Het |
Mslnl |
T |
G |
17: 25,963,749 (GRCm39) |
V388G |
possibly damaging |
Het |
Nfkb1 |
T |
C |
3: 135,307,228 (GRCm39) |
I566V |
probably benign |
Het |
Npy1r |
G |
A |
8: 67,156,873 (GRCm39) |
V98I |
probably benign |
Het |
Phf1 |
G |
T |
17: 27,153,247 (GRCm39) |
A22S |
probably benign |
Het |
Plcg1 |
T |
G |
2: 160,599,930 (GRCm39) |
F897V |
possibly damaging |
Het |
Ric1 |
A |
T |
19: 29,581,381 (GRCm39) |
E1367D |
probably benign |
Het |
Slc24a3 |
T |
C |
2: 145,482,130 (GRCm39) |
|
probably benign |
Het |
Sorl1 |
A |
G |
9: 41,968,565 (GRCm39) |
|
probably null |
Het |
Speer4a2 |
C |
T |
5: 26,290,700 (GRCm39) |
S157N |
probably damaging |
Het |
Spink5 |
T |
C |
18: 44,129,677 (GRCm39) |
|
probably benign |
Het |
Syne2 |
A |
G |
12: 76,051,377 (GRCm39) |
I4036V |
possibly damaging |
Het |
Taok1 |
A |
T |
11: 77,429,030 (GRCm39) |
M890K |
possibly damaging |
Het |
Tenm2 |
A |
T |
11: 36,755,711 (GRCm39) |
Y96N |
probably damaging |
Het |
Ttll10 |
T |
A |
4: 156,131,351 (GRCm39) |
T233S |
probably benign |
Het |
Vps39 |
G |
T |
2: 120,154,079 (GRCm39) |
L628M |
probably benign |
Het |
Zfp563 |
G |
A |
17: 33,323,600 (GRCm39) |
R105H |
probably damaging |
Het |
|
Other mutations in Alox12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01327:Alox12
|
APN |
11 |
70,145,375 (GRCm39) |
missense |
probably benign |
0.12 |
IGL02657:Alox12
|
APN |
11 |
70,138,104 (GRCm39) |
missense |
probably benign |
|
IGL02966:Alox12
|
APN |
11 |
70,140,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R0243:Alox12
|
UTSW |
11 |
70,133,542 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0357:Alox12
|
UTSW |
11 |
70,133,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R0394:Alox12
|
UTSW |
11 |
70,136,761 (GRCm39) |
missense |
probably damaging |
1.00 |
R0422:Alox12
|
UTSW |
11 |
70,145,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R0564:Alox12
|
UTSW |
11 |
70,143,662 (GRCm39) |
missense |
probably damaging |
0.99 |
R0751:Alox12
|
UTSW |
11 |
70,137,776 (GRCm39) |
missense |
probably benign |
0.00 |
R1539:Alox12
|
UTSW |
11 |
70,144,069 (GRCm39) |
splice site |
probably null |
|
R1562:Alox12
|
UTSW |
11 |
70,140,991 (GRCm39) |
missense |
probably damaging |
0.97 |
R2165:Alox12
|
UTSW |
11 |
70,133,398 (GRCm39) |
splice site |
probably null |
|
R2295:Alox12
|
UTSW |
11 |
70,133,291 (GRCm39) |
missense |
probably benign |
0.45 |
R4073:Alox12
|
UTSW |
11 |
70,138,136 (GRCm39) |
missense |
probably damaging |
1.00 |
R4558:Alox12
|
UTSW |
11 |
70,143,889 (GRCm39) |
missense |
probably benign |
0.03 |
R5081:Alox12
|
UTSW |
11 |
70,146,140 (GRCm39) |
splice site |
probably null |
|
R5198:Alox12
|
UTSW |
11 |
70,145,243 (GRCm39) |
missense |
probably damaging |
1.00 |
R5507:Alox12
|
UTSW |
11 |
70,145,238 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5793:Alox12
|
UTSW |
11 |
70,133,879 (GRCm39) |
missense |
probably benign |
0.00 |
R5832:Alox12
|
UTSW |
11 |
70,144,106 (GRCm39) |
missense |
probably damaging |
0.98 |
R5975:Alox12
|
UTSW |
11 |
70,133,609 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5984:Alox12
|
UTSW |
11 |
70,137,881 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5988:Alox12
|
UTSW |
11 |
70,142,413 (GRCm39) |
missense |
probably benign |
0.05 |
R6030:Alox12
|
UTSW |
11 |
70,145,417 (GRCm39) |
missense |
possibly damaging |
0.72 |
R6030:Alox12
|
UTSW |
11 |
70,145,417 (GRCm39) |
missense |
possibly damaging |
0.72 |
R6248:Alox12
|
UTSW |
11 |
70,143,936 (GRCm39) |
missense |
probably damaging |
1.00 |
R6505:Alox12
|
UTSW |
11 |
70,141,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R7320:Alox12
|
UTSW |
11 |
70,145,298 (GRCm39) |
missense |
probably benign |
0.02 |
R7595:Alox12
|
UTSW |
11 |
70,133,230 (GRCm39) |
missense |
probably damaging |
1.00 |
R7972:Alox12
|
UTSW |
11 |
70,133,513 (GRCm39) |
missense |
probably benign |
0.15 |
R8787:Alox12
|
UTSW |
11 |
70,144,146 (GRCm39) |
missense |
probably benign |
0.01 |
R8845:Alox12
|
UTSW |
11 |
70,137,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R9051:Alox12
|
UTSW |
11 |
70,138,153 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9055:Alox12
|
UTSW |
11 |
70,143,903 (GRCm39) |
missense |
probably damaging |
0.99 |
R9730:Alox12
|
UTSW |
11 |
70,140,920 (GRCm39) |
missense |
probably benign |
0.21 |
R9784:Alox12
|
UTSW |
11 |
70,143,665 (GRCm39) |
missense |
possibly damaging |
0.91 |
X0025:Alox12
|
UTSW |
11 |
70,146,050 (GRCm39) |
missense |
probably damaging |
0.96 |
Z1177:Alox12
|
UTSW |
11 |
70,142,305 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
Posted On |
2013-12-09 |