Incidental Mutation 'R9730:Alox12'
ID |
736025 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Alox12
|
Ensembl Gene |
ENSMUSG00000000320 |
Gene Name |
arachidonate 12-lipoxygenase |
Synonyms |
9930022G08Rik, P-12LO, Alox12p |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.184)
|
Stock # |
R9730 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
70132283-70146179 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 70140920 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 372
(A372T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000000329
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000329]
[ENSMUST00000108574]
|
AlphaFold |
P39655 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000000329
AA Change: A372T
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000000329 Gene: ENSMUSG00000000320 AA Change: A372T
Domain | Start | End | E-Value | Type |
LH2
|
2 |
111 |
9.78e-40 |
SMART |
Pfam:Lipoxygenase
|
172 |
650 |
5.1e-63 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108574
AA Change: A372T
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000104214 Gene: ENSMUSG00000000320 AA Change: A372T
Domain | Start | End | E-Value | Type |
LH2
|
2 |
111 |
9.78e-40 |
SMART |
Pfam:Lipoxygenase
|
121 |
211 |
8.1e-9 |
PFAM |
Pfam:Lipoxygenase
|
210 |
390 |
3e-61 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.6%
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars2 |
G |
A |
17: 45,829,534 (GRCm39) |
R807Q |
probably benign |
Het |
Alms1 |
G |
A |
6: 85,606,420 (GRCm39) |
R2221Q |
probably benign |
Het |
Ank2 |
T |
C |
3: 127,019,493 (GRCm39) |
M2V |
|
Het |
Cdon |
A |
G |
9: 35,398,263 (GRCm39) |
I993M |
probably benign |
Het |
Chil5 |
T |
C |
3: 105,926,470 (GRCm39) |
T120A |
possibly damaging |
Het |
Clca4b |
T |
C |
3: 144,632,979 (GRCm39) |
H157R |
probably damaging |
Het |
Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
Cyp39a1 |
A |
G |
17: 43,991,029 (GRCm39) |
N113D |
probably benign |
Het |
Dact3 |
A |
G |
7: 16,609,540 (GRCm39) |
E64G |
possibly damaging |
Het |
Dennd3 |
A |
G |
15: 73,426,959 (GRCm39) |
K779E |
probably damaging |
Het |
Etnppl |
C |
T |
3: 130,415,958 (GRCm39) |
A115V |
probably damaging |
Het |
Exoc6 |
C |
T |
19: 37,588,032 (GRCm39) |
T555I |
probably benign |
Het |
Fbxw11 |
A |
G |
11: 32,688,395 (GRCm39) |
T419A |
probably damaging |
Het |
Hcn4 |
G |
T |
9: 58,731,493 (GRCm39) |
M233I |
unknown |
Het |
Hgfac |
T |
C |
5: 35,204,282 (GRCm39) |
V515A |
probably damaging |
Het |
Hikeshi |
T |
C |
7: 89,569,371 (GRCm39) |
Y150C |
probably benign |
Het |
Igf1r |
A |
G |
7: 67,839,423 (GRCm39) |
Y645C |
probably damaging |
Het |
Iqgap1 |
A |
G |
7: 80,401,124 (GRCm39) |
I521T |
possibly damaging |
Het |
Ldhal6b |
A |
G |
17: 5,468,094 (GRCm39) |
V280A |
possibly damaging |
Het |
Map1s |
C |
T |
8: 71,369,178 (GRCm39) |
A909V |
possibly damaging |
Het |
Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
Or5b106 |
T |
A |
19: 13,123,747 (GRCm39) |
Y92F |
possibly damaging |
Het |
Plaa |
G |
A |
4: 94,466,660 (GRCm39) |
P484S |
probably benign |
Het |
Ppp1r3a |
G |
T |
6: 14,721,923 (GRCm39) |
A301D |
probably benign |
Het |
Prdm2 |
A |
G |
4: 142,858,659 (GRCm39) |
S1544P |
possibly damaging |
Het |
Scara3 |
A |
G |
14: 66,168,261 (GRCm39) |
V452A |
probably damaging |
Het |
Slc12a9 |
T |
A |
5: 137,325,732 (GRCm39) |
D293V |
probably benign |
Het |
Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
Smg1 |
T |
C |
7: 117,783,004 (GRCm39) |
N1101S |
unknown |
Het |
Spocd1 |
A |
G |
4: 129,850,305 (GRCm39) |
|
probably benign |
Het |
Synj1 |
A |
T |
16: 90,757,552 (GRCm39) |
D865E |
probably damaging |
Het |
Trim21 |
T |
C |
7: 102,213,247 (GRCm39) |
D17G |
probably benign |
Het |
Try4 |
A |
T |
6: 41,281,996 (GRCm39) |
D194V |
probably damaging |
Het |
Zfp30 |
A |
G |
7: 29,492,139 (GRCm39) |
E212G |
probably damaging |
Het |
Zfp445 |
A |
C |
9: 122,681,490 (GRCm39) |
I817R |
probably damaging |
Het |
Zfp534 |
A |
T |
4: 147,759,378 (GRCm39) |
H430Q |
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 |
|
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 |
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'- CACTCACAGATTGCTAGGAGG -3'
(R):5'- CGGAGTGGGAGTTCAGTAAC -3'
Sequencing Primer
(F):5'- ACAGGTGGATTCCAGGGACTTG -3'
(R):5'- GGGAGTTCAGTAACTACTCAGTTTC -3'
|
Posted On |
2022-11-14 |