Incidental Mutation 'R5198:Alox12'
ID |
400499 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Alox12
|
Ensembl Gene |
ENSMUSG00000000320 |
Gene Name |
arachidonate 12-lipoxygenase |
Synonyms |
9930022G08Rik, P-12LO, Alox12p |
MMRRC Submission |
042774-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.142)
|
Stock # |
R5198 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
70132283-70146179 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 70145243 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 110
(E110G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000000329
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000329]
[ENSMUST00000108574]
|
AlphaFold |
P39655 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000000329
AA Change: E110G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000000329 Gene: ENSMUSG00000000320 AA Change: E110G
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: E110G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000104214 Gene: ENSMUSG00000000320 AA Change: E110G
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 |
|
Meta Mutation Damage Score |
0.2631 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
98% (54/55) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
A |
G |
6: 142,571,726 (GRCm39) |
V1121A |
probably benign |
Het |
Adamtsl3 |
A |
C |
7: 82,261,006 (GRCm39) |
K1647Q |
possibly damaging |
Het |
Adgrb1 |
A |
T |
15: 74,415,550 (GRCm39) |
Q710L |
probably null |
Het |
Cep152 |
T |
A |
2: 125,429,544 (GRCm39) |
M738L |
probably benign |
Het |
Cma2 |
T |
C |
14: 56,209,532 (GRCm39) |
V38A |
probably benign |
Het |
Dlc1 |
C |
T |
8: 37,405,552 (GRCm39) |
G79D |
probably damaging |
Het |
Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
Dus3l |
A |
G |
17: 57,076,574 (GRCm39) |
I585V |
probably benign |
Het |
Etl4 |
A |
G |
2: 20,718,198 (GRCm39) |
Y313C |
probably damaging |
Het |
Fbxw15 |
C |
A |
9: 109,387,242 (GRCm39) |
S251I |
probably benign |
Het |
Gata4 |
G |
A |
14: 63,437,900 (GRCm39) |
S417L |
probably benign |
Het |
Gdpd5 |
T |
A |
7: 99,087,515 (GRCm39) |
Y60N |
probably damaging |
Het |
Gm17669 |
T |
C |
18: 67,695,626 (GRCm39) |
M57T |
probably benign |
Het |
Gpr39 |
A |
T |
1: 125,605,173 (GRCm39) |
I34F |
probably benign |
Het |
Iffo2 |
T |
A |
4: 139,302,528 (GRCm39) |
D90E |
probably benign |
Het |
Il17c |
A |
G |
8: 123,149,108 (GRCm39) |
D84G |
possibly damaging |
Het |
Itih3 |
T |
C |
14: 30,634,606 (GRCm39) |
T134A |
probably benign |
Het |
Lama2 |
G |
A |
10: 27,222,999 (GRCm39) |
A429V |
probably damaging |
Het |
Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
Mug1 |
G |
A |
6: 121,851,521 (GRCm39) |
R806H |
probably damaging |
Het |
Naaa |
G |
A |
5: 92,415,904 (GRCm39) |
R65* |
probably null |
Het |
Nacc2 |
C |
T |
2: 25,950,346 (GRCm39) |
M463I |
probably benign |
Het |
Nemf |
A |
G |
12: 69,402,821 (GRCm39) |
S72P |
probably damaging |
Het |
Nudt7 |
G |
A |
8: 114,862,185 (GRCm39) |
|
probably null |
Het |
Or4b1b |
T |
C |
2: 90,126,737 (GRCm39) |
Q156R |
probably damaging |
Het |
Or52z15 |
T |
C |
7: 103,331,936 (GRCm39) |
S4P |
probably benign |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pacs1 |
T |
C |
19: 5,189,325 (GRCm39) |
D757G |
probably benign |
Het |
Pkd2 |
A |
C |
5: 104,630,958 (GRCm39) |
I461L |
probably benign |
Het |
Potegl |
G |
A |
2: 23,102,473 (GRCm39) |
C121Y |
probably damaging |
Het |
Pramel5 |
T |
G |
4: 144,000,064 (GRCm39) |
|
probably benign |
Het |
Ptgdr |
G |
C |
14: 45,096,300 (GRCm39) |
F137L |
probably damaging |
Het |
Pum1 |
T |
A |
4: 130,507,190 (GRCm39) |
C1085* |
probably null |
Het |
Rfx3 |
T |
C |
19: 27,808,176 (GRCm39) |
D189G |
probably damaging |
Het |
Rlf |
T |
A |
4: 121,005,750 (GRCm39) |
K1077* |
probably null |
Het |
Slc25a30 |
C |
A |
14: 76,007,056 (GRCm39) |
D147Y |
probably benign |
Het |
Smap2 |
T |
C |
4: 120,873,984 (GRCm39) |
E22G |
possibly damaging |
Het |
Szt2 |
T |
C |
4: 118,245,519 (GRCm39) |
T1098A |
probably benign |
Het |
Tbcc |
T |
C |
17: 47,201,788 (GRCm39) |
F58S |
probably damaging |
Het |
Tekt3 |
G |
A |
11: 62,961,134 (GRCm39) |
R101H |
probably damaging |
Het |
Vcan |
T |
A |
13: 89,838,991 (GRCm39) |
E2184D |
probably damaging |
Het |
Vkorc1 |
T |
C |
7: 127,493,760 (GRCm39) |
E18G |
probably benign |
Het |
Vmn1r68 |
T |
C |
7: 10,261,723 (GRCm39) |
H125R |
probably benign |
Het |
Vmn2r63 |
C |
A |
7: 42,553,169 (GRCm39) |
V696L |
probably benign |
Het |
Wdr59 |
G |
A |
8: 112,208,620 (GRCm39) |
H421Y |
probably benign |
Het |
Xkr7 |
T |
C |
2: 152,896,873 (GRCm39) |
Y576H |
probably damaging |
Het |
Zfp112 |
T |
C |
7: 23,824,281 (GRCm39) |
V83A |
possibly damaging |
Het |
Zfp616 |
G |
A |
11: 73,974,336 (GRCm39) |
V293I |
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 |
|
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'- TCACTTATCCTGGGAAACACTTG -3'
(R):5'- TTTGACTTCGACGTTCCCGAG -3'
Sequencing Primer
(F):5'- TATCCTGGGAAACACTTGGGGAATTC -3'
(R):5'- TTCGACGTTCCCGAGGACTTG -3'
|
Posted On |
2016-07-06 |