Incidental Mutation 'R7972:Alox12'
ID |
650671 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Alox12
|
Ensembl Gene |
ENSMUSG00000000320 |
Gene Name |
arachidonate 12-lipoxygenase |
Synonyms |
9930022G08Rik, P-12LO, Alox12p |
MMRRC Submission |
046015-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.142)
|
Stock # |
R7972 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
70132283-70146179 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 70133513 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 604
(M604L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000000329
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000329]
[ENSMUST00000021180]
[ENSMUST00000021181]
[ENSMUST00000040428]
[ENSMUST00000102569]
[ENSMUST00000108575]
[ENSMUST00000108576]
[ENSMUST00000108577]
[ENSMUST00000108578]
[ENSMUST00000108579]
[ENSMUST00000125752]
[ENSMUST00000141880]
[ENSMUST00000176116]
[ENSMUST00000176268]
|
AlphaFold |
P39655 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000000329
AA Change: M604L
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000000329 Gene: ENSMUSG00000000320 AA Change: M604L
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: 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: 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: 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: ENSMUST00000125752
|
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: 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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
98% (48/49) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd16a |
T |
A |
17: 35,320,287 (GRCm39) |
V384E |
probably damaging |
Het |
Acacb |
C |
T |
5: 114,364,918 (GRCm39) |
R1533* |
probably null |
Het |
Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
Brdt |
A |
T |
5: 107,496,415 (GRCm39) |
I176F |
possibly damaging |
Het |
Cdk5 |
G |
T |
5: 24,624,656 (GRCm39) |
T245K |
probably benign |
Het |
Chd9 |
A |
T |
8: 91,732,395 (GRCm39) |
R1304S |
unknown |
Het |
Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
Cyp2j11 |
T |
A |
4: 96,185,871 (GRCm39) |
E438V |
probably damaging |
Het |
Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
Dnah10 |
T |
C |
5: 124,803,949 (GRCm39) |
V92A |
probably benign |
Het |
Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
Fam184a |
A |
T |
10: 53,514,355 (GRCm39) |
L1022Q |
probably damaging |
Het |
Foxd4 |
T |
C |
19: 24,877,594 (GRCm39) |
H202R |
probably damaging |
Het |
Fry |
T |
C |
5: 150,233,861 (GRCm39) |
V16A |
probably benign |
Het |
Gstcd |
A |
T |
3: 132,777,894 (GRCm39) |
F306I |
probably benign |
Het |
H2bc13 |
A |
G |
13: 21,899,977 (GRCm39) |
S113P |
possibly damaging |
Het |
Hivep3 |
T |
C |
4: 119,954,711 (GRCm39) |
V1009A |
possibly damaging |
Het |
Hoxd12 |
G |
T |
2: 74,506,269 (GRCm39) |
R227L |
probably damaging |
Het |
Ifi208 |
T |
A |
1: 173,506,556 (GRCm39) |
M113K |
possibly damaging |
Het |
Ift70a1 |
A |
T |
2: 75,810,802 (GRCm39) |
M427K |
probably damaging |
Het |
Kcnh4 |
T |
G |
11: 100,643,278 (GRCm39) |
T330P |
probably damaging |
Het |
Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
Lin28a |
G |
A |
4: 133,733,574 (GRCm39) |
P158S |
probably damaging |
Het |
Muc16 |
C |
A |
9: 18,557,060 (GRCm39) |
E3078* |
probably null |
Het |
Naaladl1 |
A |
G |
19: 6,156,274 (GRCm39) |
N120S |
probably damaging |
Het |
Nol10 |
G |
A |
12: 17,402,648 (GRCm39) |
R40H |
probably benign |
Het |
Ntng1 |
G |
A |
3: 110,042,802 (GRCm39) |
S8L |
probably benign |
Het |
Or4a71 |
T |
G |
2: 89,357,948 (GRCm39) |
I269L |
probably benign |
Het |
Or4c107 |
T |
A |
2: 88,789,177 (GRCm39) |
Y122* |
probably null |
Het |
Pacsin1 |
T |
A |
17: 27,927,613 (GRCm39) |
F319I |
unknown |
Het |
Pla2g4d |
G |
A |
2: 120,109,413 (GRCm39) |
T212I |
probably benign |
Het |
Ppp4r1 |
T |
A |
17: 66,140,093 (GRCm39) |
C664S |
possibly damaging |
Het |
Prodh2 |
T |
C |
7: 30,210,580 (GRCm39) |
I377T |
probably damaging |
Het |
Prss57 |
A |
T |
10: 79,619,230 (GRCm39) |
L243H |
probably benign |
Het |
Pxdn |
C |
T |
12: 30,056,601 (GRCm39) |
L1271F |
probably damaging |
Het |
Ros1 |
G |
A |
10: 52,030,926 (GRCm39) |
R581* |
probably null |
Het |
Rps6kc1 |
C |
T |
1: 190,531,321 (GRCm39) |
G894S |
probably benign |
Het |
Sirt7 |
A |
G |
11: 120,510,016 (GRCm39) |
S183P |
unknown |
Het |
Slc12a4 |
G |
A |
8: 106,678,237 (GRCm39) |
R319W |
possibly damaging |
Het |
Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
Styxl2 |
T |
A |
1: 165,926,708 (GRCm39) |
E968V |
probably damaging |
Het |
Tbc1d8 |
A |
G |
1: 39,431,250 (GRCm39) |
F374S |
probably damaging |
Het |
Tdrd1 |
T |
A |
19: 56,837,134 (GRCm39) |
D489E |
probably damaging |
Het |
Tiprl |
T |
A |
1: 165,064,543 (GRCm39) |
|
probably benign |
Het |
Tpt1 |
T |
C |
14: 76,085,539 (GRCm39) |
*173Q |
probably null |
Het |
Trim17 |
A |
G |
11: 58,859,394 (GRCm39) |
I203V |
probably benign |
Het |
Trim43b |
T |
A |
9: 88,973,361 (GRCm39) |
H124L |
probably damaging |
Het |
Triobp |
T |
C |
15: 78,852,186 (GRCm39) |
I780T |
probably damaging |
Het |
Tyrobp |
G |
A |
7: 30,114,063 (GRCm39) |
G101R |
|
Het |
Vmn1r181 |
A |
T |
7: 23,683,871 (GRCm39) |
H112L |
probably benign |
Het |
Wdr19 |
A |
G |
5: 65,381,193 (GRCm39) |
N406D |
probably damaging |
Het |
Zc3h12a |
T |
C |
4: 125,013,728 (GRCm39) |
K379E |
probably benign |
Het |
Zcwpw1 |
T |
C |
5: 137,799,323 (GRCm39) |
I230T |
probably benign |
Het |
Zfhx4 |
A |
G |
3: 5,477,533 (GRCm39) |
T3383A |
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 |
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 |
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'- TGCTTGAAATTGGCTGAGCAC -3'
(R):5'- TCCTAACACTTGGGTTCTAAAGC -3'
Sequencing Primer
(F):5'- TGAGCACAGCTTTGGTCC -3'
(R):5'- GGGTTCTAAAGCCTCCATTTCC -3'
|
Posted On |
2020-09-15 |