Incidental Mutation 'R5984:Alox12'
| ID |
481566 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alox12
|
| Ensembl Gene |
ENSMUSG00000000320 |
| Gene Name |
arachidonate 12-lipoxygenase |
| Synonyms |
9930022G08Rik, P-12LO, Alox12p |
| MMRRC Submission |
043251-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.184)
|
| Stock # |
R5984 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
70132283-70146179 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70137881 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 420
(T420A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000329
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000329]
[ENSMUST00000108574]
|
| AlphaFold |
P39655 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000329
AA Change: T420A
PolyPhen 2
Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000000329
Gene: ENSMUSG00000000320
AA Change: T420A
| 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: ENSMUST00000108574
|
| SMART Domains |
Protein: ENSMUSP00000104214
Gene: ENSMUSG00000000320
| 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: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9830107B12Rik |
T |
A |
17: 48,439,165 (GRCm39) |
L130F |
probably benign |
Het |
| Ano5 |
T |
C |
7: 51,243,412 (GRCm39) |
I795T |
probably damaging |
Het |
| Atpsckmt |
C |
T |
15: 31,617,065 (GRCm39) |
R99* |
probably null |
Het |
| Crlf2 |
G |
A |
5: 109,703,469 (GRCm39) |
P92L |
probably damaging |
Het |
| Dgat1 |
T |
C |
15: 76,386,458 (GRCm39) |
Y492C |
probably damaging |
Het |
| Dna2 |
G |
C |
10: 62,798,285 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,211,344 (GRCm39) |
H982R |
probably benign |
Het |
| F13b |
A |
G |
1: 139,435,950 (GRCm39) |
D252G |
probably damaging |
Het |
| Fgfr3 |
A |
T |
5: 33,887,049 (GRCm39) |
E151V |
probably damaging |
Het |
| Gabpb1 |
T |
C |
2: 126,488,573 (GRCm39) |
T264A |
probably damaging |
Het |
| Gemin5 |
T |
C |
11: 58,047,587 (GRCm39) |
E329G |
probably damaging |
Het |
| Git1 |
C |
T |
11: 77,397,309 (GRCm39) |
P721S |
possibly damaging |
Het |
| Hcn3 |
T |
C |
3: 89,055,570 (GRCm39) |
E559G |
probably benign |
Het |
| Invs |
G |
A |
4: 48,421,674 (GRCm39) |
A769T |
probably benign |
Het |
| Ism2 |
T |
A |
12: 87,333,809 (GRCm39) |
T79S |
possibly damaging |
Het |
| Lamb1 |
G |
A |
12: 31,377,773 (GRCm39) |
E1673K |
possibly damaging |
Het |
| Lmtk2 |
T |
A |
5: 144,111,656 (GRCm39) |
L792H |
probably benign |
Het |
| Lnpk |
A |
T |
2: 74,352,543 (GRCm39) |
S380T |
probably benign |
Het |
| Mff |
A |
G |
1: 82,708,848 (GRCm39) |
I66V |
probably benign |
Het |
| Mtor |
A |
G |
4: 148,623,284 (GRCm39) |
K2045E |
probably benign |
Het |
| Mycbp2 |
C |
A |
14: 103,364,120 (GRCm39) |
W4393L |
probably damaging |
Het |
| Or1e31 |
T |
A |
11: 73,690,407 (GRCm39) |
M59L |
possibly damaging |
Het |
| Or8k32 |
A |
T |
2: 86,368,512 (GRCm39) |
V249E |
probably damaging |
Het |
| Pcdha5 |
A |
G |
18: 37,094,733 (GRCm39) |
D414G |
probably damaging |
Het |
| Pknox2 |
T |
C |
9: 36,835,022 (GRCm39) |
E149G |
probably damaging |
Het |
| Plxdc2 |
A |
G |
2: 16,665,666 (GRCm39) |
R240G |
probably benign |
Het |
| Polr3d |
A |
T |
14: 70,676,927 (GRCm39) |
F389Y |
possibly damaging |
Het |
| Prex1 |
T |
G |
2: 166,427,664 (GRCm39) |
D826A |
probably damaging |
Het |
| Prss50 |
T |
A |
9: 110,691,454 (GRCm39) |
S253T |
probably damaging |
Het |
| Ptgfrn |
T |
C |
3: 100,957,459 (GRCm39) |
D705G |
probably damaging |
Het |
| Ptpn21 |
T |
A |
12: 98,655,335 (GRCm39) |
N544I |
probably damaging |
Het |
| Rbm5 |
G |
A |
9: 107,622,141 (GRCm39) |
P611L |
probably damaging |
Het |
| Rev3l |
A |
T |
10: 39,618,685 (GRCm39) |
|
probably benign |
Het |
| Rnf139 |
T |
C |
15: 58,770,595 (GRCm39) |
Y207H |
probably benign |
Het |
| Scn11a |
C |
T |
9: 119,613,082 (GRCm39) |
R836H |
probably benign |
Het |
| Slc30a1 |
A |
G |
1: 191,639,212 (GRCm39) |
T32A |
probably damaging |
Het |
| Smad4 |
T |
A |
18: 73,810,982 (GRCm39) |
M1L |
probably benign |
Het |
| Sos1 |
T |
C |
17: 80,759,561 (GRCm39) |
D190G |
possibly damaging |
Het |
| Sptbn1 |
C |
T |
11: 30,068,464 (GRCm39) |
D1677N |
probably damaging |
Het |
| Tmem132e |
G |
A |
11: 82,335,923 (GRCm39) |
D1002N |
probably damaging |
Het |
| Usp8 |
C |
A |
2: 126,584,401 (GRCm39) |
Q526K |
probably benign |
Het |
| Wt1 |
A |
G |
2: 105,002,597 (GRCm39) |
S488G |
probably benign |
Het |
| Zbtb43 |
A |
G |
2: 33,344,272 (GRCm39) |
S318P |
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 |
|
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'- CTTACAACTGACTCCACCTGG -3'
(R):5'- TGGGGATGCCAGACTAATGTC -3'
Sequencing Primer
(F):5'- AAATTTCTCTCTCTGGGGAGATGC -3'
(R):5'- TGTCCATGAAATCTCAAGCCCTGG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation