Incidental Mutation 'R2165:Alox12'
| ID |
235446 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alox12
|
| Ensembl Gene |
ENSMUSG00000000320 |
| Gene Name |
arachidonate 12-lipoxygenase |
| Synonyms |
9930022G08Rik, P-12LO, Alox12p |
| MMRRC Submission |
040168-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.184)
|
| Stock # |
R2165 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
70132283-70146179 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 70133398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135383
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000329]
[ENSMUST00000021180]
[ENSMUST00000021181]
[ENSMUST00000040428]
[ENSMUST00000100950]
[ENSMUST00000102569]
[ENSMUST00000108575]
[ENSMUST00000176116]
[ENSMUST00000141880]
[ENSMUST00000108576]
[ENSMUST00000108577]
[ENSMUST00000125752]
[ENSMUST00000108578]
[ENSMUST00000108579]
[ENSMUST00000176268]
|
| AlphaFold |
P39655 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000000329
|
| SMART Domains |
Protein: ENSMUSP00000000329
Gene: ENSMUSG00000000320
| 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 null
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 null
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 null
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 null
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 null
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: ENSMUST00000150504
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138658
|
| 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 null
Transcript: ENSMUST00000141880
|
| SMART Domains |
Protein: ENSMUSP00000135383
Gene: ENSMUSG00000093989
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
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 null
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: ENSMUST00000125752
|
| Predicted Effect |
probably null
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 null
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: 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
99% (71/72) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,906,048 (GRCm39) |
T806A |
possibly damaging |
Het |
| Adgre1 |
T |
G |
17: 57,726,338 (GRCm39) |
L403R |
probably damaging |
Het |
| Ankib1 |
A |
T |
5: 3,763,210 (GRCm39) |
D506E |
possibly damaging |
Het |
| Ascc3 |
T |
G |
10: 50,597,935 (GRCm39) |
Y1268D |
probably damaging |
Het |
| Bik |
A |
G |
15: 83,425,624 (GRCm39) |
M42V |
probably benign |
Het |
| Bola1 |
A |
T |
3: 96,104,517 (GRCm39) |
S26T |
probably benign |
Het |
| Bub1 |
T |
C |
2: 127,643,201 (GRCm39) |
I1048V |
probably benign |
Het |
| Cad |
A |
G |
5: 31,219,564 (GRCm39) |
N621S |
probably damaging |
Het |
| Camkv |
C |
A |
9: 107,822,799 (GRCm39) |
N69K |
possibly damaging |
Het |
| Ccdc110 |
T |
C |
8: 46,395,876 (GRCm39) |
M589T |
probably benign |
Het |
| Ccdc154 |
T |
A |
17: 25,389,864 (GRCm39) |
V498E |
probably damaging |
Het |
| Ccr1l1 |
A |
G |
9: 123,777,691 (GRCm39) |
L252P |
probably damaging |
Het |
| Cdh1 |
T |
C |
8: 107,390,953 (GRCm39) |
C690R |
probably damaging |
Het |
| Cfap157 |
T |
G |
2: 32,668,175 (GRCm39) |
|
probably null |
Het |
| Cux2 |
A |
G |
5: 122,025,540 (GRCm39) |
S43P |
possibly damaging |
Het |
| Cyb5rl |
C |
T |
4: 106,925,880 (GRCm39) |
P21S |
probably damaging |
Het |
| Cyp51 |
T |
G |
5: 4,136,594 (GRCm39) |
Q400P |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,137,152 (GRCm39) |
|
probably benign |
Het |
| Efcab3 |
G |
A |
11: 104,642,688 (GRCm39) |
V1104I |
possibly damaging |
Het |
| Ephb4 |
A |
G |
5: 137,352,688 (GRCm39) |
I90M |
probably benign |
Het |
| Fam13c |
A |
G |
10: 70,378,523 (GRCm39) |
N269S |
probably damaging |
Het |
| Fam83c |
T |
A |
2: 155,673,444 (GRCm39) |
Y248F |
possibly damaging |
Het |
| Fat2 |
A |
G |
11: 55,194,542 (GRCm39) |
F1166L |
probably benign |
Het |
| Fem1a |
A |
G |
17: 56,564,686 (GRCm39) |
N260D |
probably benign |
Het |
| Fnbp4 |
T |
A |
2: 90,597,743 (GRCm39) |
|
probably null |
Het |
| Fut9 |
T |
A |
4: 25,619,733 (GRCm39) |
*360Y |
probably null |
Het |
| Fut9 |
T |
A |
4: 25,619,734 (GRCm39) |
*360L |
probably null |
Het |
| Gm3727 |
T |
A |
14: 7,264,625 (GRCm38) |
Q10L |
probably damaging |
Het |
| Gpat2 |
G |
A |
2: 127,270,211 (GRCm39) |
V75M |
probably damaging |
Het |
| Haspin |
A |
C |
11: 73,027,456 (GRCm39) |
N544K |
probably damaging |
Het |
| Havcr1 |
A |
G |
11: 46,669,379 (GRCm39) |
N286S |
probably benign |
Het |
| Lrp6 |
A |
C |
6: 134,436,246 (GRCm39) |
C1307G |
probably damaging |
Het |
| Lrrc2 |
A |
C |
9: 110,808,645 (GRCm39) |
H294P |
possibly damaging |
Het |
| Mettl25b |
A |
T |
3: 87,834,360 (GRCm39) |
|
probably null |
Het |
| Mon2 |
A |
C |
10: 122,878,269 (GRCm39) |
|
probably null |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mrgprb1 |
T |
C |
7: 48,097,070 (GRCm39) |
I281V |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,569,294 (GRCm39) |
E118G |
probably damaging |
Het |
| Nefh |
T |
C |
11: 4,893,872 (GRCm39) |
D394G |
probably damaging |
Het |
| Neurl4 |
A |
G |
11: 69,794,047 (GRCm39) |
T168A |
probably benign |
Het |
| Or10s1 |
A |
G |
9: 39,986,211 (GRCm39) |
N207D |
possibly damaging |
Het |
| Or1j18 |
T |
A |
2: 36,624,713 (GRCm39) |
C127S |
probably damaging |
Het |
| Or51a10 |
T |
C |
7: 103,698,845 (GRCm39) |
T239A |
probably benign |
Het |
| Or5ak4 |
A |
T |
2: 85,161,446 (GRCm39) |
N265K |
probably benign |
Het |
| Oxsr1 |
A |
C |
9: 119,123,498 (GRCm39) |
M92R |
probably damaging |
Het |
| Pde8a |
T |
C |
7: 80,945,516 (GRCm39) |
|
probably null |
Het |
| Pex5l |
T |
A |
3: 33,007,281 (GRCm39) |
|
probably null |
Het |
| Pik3r4 |
T |
A |
9: 105,549,984 (GRCm39) |
M1025K |
probably benign |
Het |
| Plch1 |
C |
T |
3: 63,605,903 (GRCm39) |
E1325K |
probably benign |
Het |
| Plin2 |
A |
T |
4: 86,586,669 (GRCm39) |
V54E |
probably damaging |
Het |
| Prss47 |
A |
T |
13: 65,192,887 (GRCm39) |
I298N |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,097,546 (GRCm39) |
R1017G |
probably benign |
Het |
| Psg19 |
T |
A |
7: 18,530,911 (GRCm39) |
Y81F |
possibly damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Serpinb1a |
T |
C |
13: 33,034,397 (GRCm39) |
|
probably benign |
Het |
| Sh3pxd2a |
A |
T |
19: 47,266,794 (GRCm39) |
V265E |
probably damaging |
Het |
| Slc22a17 |
A |
T |
14: 55,146,282 (GRCm39) |
Y337* |
probably null |
Het |
| Slc25a27 |
A |
G |
17: 43,968,663 (GRCm39) |
V138A |
probably benign |
Het |
| Slc4a2 |
A |
G |
5: 24,636,314 (GRCm39) |
Y220C |
probably damaging |
Het |
| Slc66a3 |
G |
A |
12: 17,039,840 (GRCm39) |
L192F |
probably damaging |
Het |
| Stab1 |
A |
T |
14: 30,890,392 (GRCm39) |
S20T |
probably benign |
Het |
| Tcstv2a |
A |
T |
13: 120,725,633 (GRCm39) |
Q99L |
probably damaging |
Het |
| Thsd1 |
G |
T |
8: 22,728,538 (GRCm39) |
|
probably benign |
Het |
| Tmem204 |
G |
A |
17: 25,299,566 (GRCm39) |
|
probably benign |
Het |
| Tom1l1 |
A |
G |
11: 90,540,721 (GRCm39) |
|
probably benign |
Het |
| Toporsl |
T |
A |
4: 52,612,072 (GRCm39) |
F655Y |
possibly damaging |
Het |
| Vmn2r98 |
A |
G |
17: 19,301,553 (GRCm39) |
K852E |
unknown |
Het |
| Wdpcp |
T |
G |
11: 21,641,884 (GRCm39) |
L174R |
probably damaging |
Het |
| Zbbx |
G |
A |
3: 75,019,414 (GRCm39) |
P99S |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,468,418 (GRCm39) |
P2859S |
probably benign |
Het |
| Zfp600 |
A |
T |
4: 146,133,488 (GRCm39) |
R719* |
probably null |
Het |
| Zfp697 |
C |
A |
3: 98,335,330 (GRCm39) |
A365E |
unknown |
Het |
| Zfp957 |
A |
C |
14: 79,451,053 (GRCm39) |
S249A |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCCTCAGATGGTGATACTG -3'
(R):5'- TGACGATGGAGACCGTGATG -3'
Sequencing Primer
(F):5'- GCCTCAGATGGTGATACTGTTCTC -3'
(R):5'- GTCGCTACCTGATGTGCAG -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation