Incidental Mutation 'R2295:Alox12'
| ID |
245152 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alox12
|
| Ensembl Gene |
ENSMUSG00000000320 |
| Gene Name |
arachidonate 12-lipoxygenase |
| Synonyms |
9930022G08Rik, P-12LO, Alox12p |
| MMRRC Submission |
040294-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.184)
|
| Stock # |
R2295 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
70132283-70146179 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70133291 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 638
(I638V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000329
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000329]
[ENSMUST00000021180]
[ENSMUST00000021181]
[ENSMUST00000040428]
[ENSMUST00000100950]
[ENSMUST00000102569]
[ENSMUST00000108575]
[ENSMUST00000141880]
[ENSMUST00000108578]
[ENSMUST00000108579]
[ENSMUST00000176116]
[ENSMUST00000176268]
[ENSMUST00000108577]
[ENSMUST00000108576]
[ENSMUST00000125752]
|
| AlphaFold |
P39655 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000329
AA Change: I638V
PolyPhen 2
Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000000329
Gene: ENSMUSG00000000320
AA Change: I638V
| 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: ENSMUST00000100950
|
| SMART Domains |
Protein: ENSMUSP00000098510
Gene: ENSMUSG00000020831
| Domain | Start | End | E-Value | Type |
|---|
|
SANT
|
37 |
82 |
7.29e-1 |
SMART |
|
low complexity region
|
105 |
128 |
N/A |
INTRINSIC |
|
low complexity region
|
134 |
149 |
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 |
noncoding transcript
Transcript: ENSMUST00000138658
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148878
|
| 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: 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 |
|
| 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: ENSMUST00000108577
|
| SMART Domains |
Protein: ENSMUSP00000104218
Gene: ENSMUSG00000020831
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
72 |
95 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108576
|
| SMART Domains |
Protein: ENSMUSP00000104216
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
|
169 |
183 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125752
|
| Meta Mutation Damage Score |
0.4703 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (41/41) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,039,729 (GRCm39) |
Y428C |
probably damaging |
Het |
| Adgrd1 |
G |
A |
5: 129,199,570 (GRCm39) |
V136I |
probably benign |
Het |
| Aldh5a1 |
A |
G |
13: 25,110,082 (GRCm39) |
F151S |
probably damaging |
Het |
| Arhgap42 |
A |
T |
9: 9,115,745 (GRCm39) |
D110E |
probably damaging |
Het |
| Capn15 |
G |
A |
17: 26,183,555 (GRCm39) |
R309* |
probably null |
Het |
| Crmp1 |
A |
G |
5: 37,422,606 (GRCm39) |
I138V |
probably benign |
Het |
| Dennd3 |
G |
A |
15: 73,395,404 (GRCm39) |
|
probably null |
Het |
| Dsp |
T |
C |
13: 38,381,022 (GRCm39) |
V1990A |
probably benign |
Het |
| Dtna |
T |
G |
18: 23,764,469 (GRCm39) |
L546R |
probably damaging |
Het |
| Elac1 |
T |
C |
18: 73,872,300 (GRCm39) |
I232V |
probably benign |
Het |
| Hdgfl1 |
C |
T |
13: 26,953,345 (GRCm39) |
E243K |
possibly damaging |
Het |
| Hexb |
A |
G |
13: 97,322,120 (GRCm39) |
S222P |
probably damaging |
Het |
| Hs6st3 |
A |
G |
14: 119,375,857 (GRCm39) |
T11A |
probably benign |
Het |
| Il18 |
A |
G |
9: 50,490,635 (GRCm39) |
E90G |
probably benign |
Het |
| Itga8 |
T |
C |
2: 12,187,520 (GRCm39) |
T720A |
probably benign |
Het |
| Kcnt1 |
G |
T |
2: 25,790,933 (GRCm39) |
A11S |
probably damaging |
Het |
| Luzp2 |
T |
C |
7: 54,821,938 (GRCm39) |
|
probably benign |
Het |
| Mpped2 |
A |
G |
2: 106,529,846 (GRCm39) |
N32D |
possibly damaging |
Het |
| Nfic |
T |
C |
10: 81,256,365 (GRCm39) |
K122E |
probably damaging |
Het |
| Ntm |
A |
G |
9: 29,020,817 (GRCm39) |
V134A |
possibly damaging |
Het |
| Olfml2b |
G |
A |
1: 170,490,107 (GRCm39) |
|
probably benign |
Het |
| Or56a4 |
A |
G |
7: 104,806,532 (GRCm39) |
V119A |
probably benign |
Het |
| Or9q2 |
A |
T |
19: 13,772,108 (GRCm39) |
I289N |
probably damaging |
Het |
| Osbpl9 |
A |
G |
4: 109,059,331 (GRCm39) |
Y28H |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,285,835 (GRCm39) |
Y1025N |
probably damaging |
Het |
| Pip5k1c |
G |
A |
10: 81,141,020 (GRCm39) |
A43T |
probably benign |
Het |
| Polb |
A |
G |
8: 23,143,335 (GRCm39) |
L19P |
probably damaging |
Het |
| Ppp1r14c |
T |
C |
10: 3,316,734 (GRCm39) |
F23S |
possibly damaging |
Het |
| Prkab1 |
A |
T |
5: 116,159,715 (GRCm39) |
|
probably null |
Het |
| Slc6a21 |
G |
A |
7: 44,929,952 (GRCm39) |
A147T |
possibly damaging |
Het |
| Slco6c1 |
A |
G |
1: 97,053,473 (GRCm39) |
S143P |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,204,584 (GRCm39) |
N1348D |
unknown |
Het |
| Srgap1 |
T |
C |
10: 121,630,665 (GRCm39) |
K751R |
probably benign |
Het |
| Sult2a1 |
A |
G |
7: 13,569,884 (GRCm39) |
|
probably null |
Het |
| Svopl |
C |
A |
6: 37,996,668 (GRCm39) |
A270S |
possibly damaging |
Het |
| Tekt2 |
T |
C |
4: 126,217,486 (GRCm39) |
|
probably null |
Het |
| Toporsl |
A |
G |
4: 52,610,176 (GRCm39) |
D23G |
probably damaging |
Het |
| Trim30d |
A |
C |
7: 104,137,149 (GRCm39) |
C18W |
probably damaging |
Het |
| Trmt11 |
G |
C |
10: 30,423,744 (GRCm39) |
P387R |
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 |
|
IGL01629:Alox12
|
APN |
11 |
70,133,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAATTAGAGTCTCAGCAGCAGAC -3'
(R):5'- CATGGTGAGTAATGACCACGG -3'
Sequencing Primer
(F):5'- TTAGAGTCTCAGCAGCAGACATAAG -3'
(R):5'- CATGGTGAGTAATGACCACGGAGTAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation