Incidental Mutation 'R5832:Alox12'
ID |
449369 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Alox12
|
Ensembl Gene |
ENSMUSG00000000320 |
Gene Name |
arachidonate 12-lipoxygenase |
Synonyms |
9930022G08Rik, P-12LO, Alox12p |
MMRRC Submission |
044054-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.184)
|
Stock # |
R5832 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
70132283-70146179 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 70144106 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 129
(E129G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104214
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000329]
[ENSMUST00000108574]
|
AlphaFold |
P39655 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000000329
AA Change: E129G
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000000329 Gene: ENSMUSG00000000320 AA Change: E129G
Domain | Start | End | E-Value | Type |
LH2
|
2 |
111 |
9.78e-40 |
SMART |
Pfam:Lipoxygenase
|
172 |
650 |
5.1e-63 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108574
AA Change: E129G
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000104214 Gene: ENSMUSG00000000320 AA Change: E129G
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: 99.7%
- 10x: 98.8%
- 20x: 96.7%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
Adgrv1 |
G |
A |
13: 81,251,421 (GRCm39) |
S6232F |
possibly damaging |
Het |
Anxa13 |
C |
A |
15: 58,205,389 (GRCm39) |
|
noncoding transcript |
Het |
Arfgef3 |
C |
T |
10: 18,506,168 (GRCm39) |
G878D |
probably damaging |
Het |
Asnsd1 |
T |
C |
1: 53,386,634 (GRCm39) |
D331G |
probably damaging |
Het |
Crisp1 |
A |
G |
17: 40,612,208 (GRCm39) |
|
probably null |
Het |
Eml5 |
T |
C |
12: 98,842,447 (GRCm39) |
N217S |
probably benign |
Het |
Fat1 |
A |
T |
8: 45,470,460 (GRCm39) |
Y1463F |
possibly damaging |
Het |
Fhod3 |
T |
C |
18: 25,223,752 (GRCm39) |
W1033R |
probably damaging |
Het |
Galr2 |
T |
A |
11: 116,172,457 (GRCm39) |
L49Q |
probably damaging |
Het |
Gstm5 |
T |
C |
3: 107,804,853 (GRCm39) |
V115A |
probably benign |
Het |
Gtpbp2 |
C |
T |
17: 46,478,788 (GRCm39) |
T535I |
probably damaging |
Het |
Hk1 |
T |
C |
10: 62,128,144 (GRCm39) |
E326G |
probably benign |
Het |
Igfn1 |
A |
G |
1: 135,902,533 (GRCm39) |
V388A |
probably damaging |
Het |
Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
Kitl |
C |
A |
10: 99,915,882 (GRCm39) |
P137H |
probably damaging |
Het |
Lamp3 |
A |
T |
16: 19,520,070 (GRCm39) |
Y38N |
probably damaging |
Het |
Lmo7 |
A |
T |
14: 102,121,649 (GRCm39) |
N5I |
probably damaging |
Het |
Mc3r |
T |
A |
2: 172,091,350 (GRCm39) |
C191S |
probably benign |
Het |
Mep1a |
G |
A |
17: 43,789,055 (GRCm39) |
H574Y |
probably benign |
Het |
Mybpc3 |
A |
G |
2: 90,949,520 (GRCm39) |
|
probably null |
Het |
Nav2 |
A |
T |
7: 49,197,817 (GRCm39) |
|
probably null |
Het |
Patz1 |
C |
T |
11: 3,256,277 (GRCm39) |
P521L |
probably benign |
Het |
Pramel14 |
A |
G |
4: 143,718,532 (GRCm39) |
S304P |
probably damaging |
Het |
Prkcd |
T |
C |
14: 30,327,778 (GRCm39) |
T103A |
probably damaging |
Het |
Pttg1ip |
T |
C |
10: 77,419,859 (GRCm39) |
|
probably null |
Het |
Rcbtb2 |
C |
A |
14: 73,404,262 (GRCm39) |
Q85K |
possibly damaging |
Het |
Rdh16f1 |
T |
A |
10: 127,624,618 (GRCm39) |
V152E |
probably damaging |
Het |
Rsph4a |
A |
G |
10: 33,785,498 (GRCm39) |
I470V |
probably benign |
Het |
Sarnp |
T |
C |
10: 128,684,181 (GRCm39) |
|
probably null |
Het |
Slc39a6 |
C |
A |
18: 24,734,669 (GRCm39) |
V7L |
possibly damaging |
Het |
Slco1a4 |
A |
G |
6: 141,765,270 (GRCm39) |
I324T |
probably benign |
Het |
Spata31d1a |
A |
T |
13: 59,849,380 (GRCm39) |
V916E |
probably damaging |
Het |
Srgap1 |
T |
G |
10: 121,676,819 (GRCm39) |
T392P |
probably damaging |
Het |
Tbc1d20 |
A |
T |
2: 152,153,282 (GRCm39) |
M271L |
possibly damaging |
Het |
Tbc1d22b |
T |
C |
17: 29,789,621 (GRCm39) |
I161T |
possibly damaging |
Het |
Tcof1 |
G |
T |
18: 60,952,611 (GRCm39) |
N918K |
unknown |
Het |
Tnr |
A |
G |
1: 159,713,692 (GRCm39) |
T707A |
probably benign |
Het |
Trim66 |
A |
G |
7: 109,054,409 (GRCm39) |
F1267S |
probably damaging |
Het |
Trpm6 |
A |
G |
19: 18,764,183 (GRCm39) |
H263R |
possibly damaging |
Het |
Tshz2 |
T |
A |
2: 169,725,965 (GRCm39) |
V187D |
possibly damaging |
Het |
Ube2f |
T |
G |
1: 91,213,046 (GRCm39) |
V176G |
possibly damaging |
Het |
Vmn2r109 |
C |
T |
17: 20,761,318 (GRCm39) |
A680T |
probably benign |
Het |
Vmn2r77 |
T |
A |
7: 86,460,670 (GRCm39) |
C665* |
probably null |
Het |
Zfp954 |
A |
G |
7: 7,118,389 (GRCm39) |
V385A |
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 |
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'- GTCCGCTGCTATTGTCTGAG -3'
(R):5'- ACCCGATGAATGTGTTCAGG -3'
Sequencing Primer
(F):5'- AGGTAAGCCTTCTTTCCAGGTG -3'
(R):5'- TGTTCAGGGATCAGTCAAGGC -3'
|
Posted On |
2016-12-20 |