Incidental Mutation 'R2313:Alox5'
| ID |
245373 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alox5
|
| Ensembl Gene |
ENSMUSG00000025701 |
| Gene Name |
arachidonate 5-lipoxygenase |
| Synonyms |
5LO, 5-LOX, 5LX |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R2313 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
116387038-116438139 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 116390822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 443
(D443V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130780
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026795]
[ENSMUST00000079012]
[ENSMUST00000101032]
[ENSMUST00000164547]
[ENSMUST00000203193]
[ENSMUST00000203722]
[ENSMUST00000170186]
|
| AlphaFold |
P48999 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026795
AA Change: D443V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000026795
Gene: ENSMUSG00000025701
AA Change: D443V
| Domain | Start | End | E-Value | Type |
|---|
|
LH2
|
2 |
115 |
3.41e-39 |
SMART |
|
Pfam:Lipoxygenase
|
212 |
662 |
1.5e-79 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079012
|
| SMART Domains |
Protein: ENSMUSP00000078024
Gene: ENSMUSG00000025702
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
64 |
N/A |
INTRINSIC |
|
RINGv
|
75 |
123 |
1.16e-23 |
SMART |
|
transmembrane domain
|
151 |
173 |
N/A |
INTRINSIC |
|
transmembrane domain
|
188 |
210 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101032
|
| SMART Domains |
Protein: ENSMUSP00000098594
Gene: ENSMUSG00000025702
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
64 |
N/A |
INTRINSIC |
|
RINGv
|
75 |
123 |
1.16e-23 |
SMART |
|
transmembrane domain
|
151 |
173 |
N/A |
INTRINSIC |
|
transmembrane domain
|
188 |
210 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164547
AA Change: D443V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000130780
Gene: ENSMUSG00000025701
AA Change: D443V
| Domain | Start | End | E-Value | Type |
|---|
|
LH2
|
2 |
115 |
3.41e-39 |
SMART |
|
Pfam:Lipoxygenase
|
125 |
217 |
5.1e-12 |
PFAM |
|
Pfam:Lipoxygenase
|
213 |
564 |
8.4e-133 |
PFAM |
|
Pfam:Lipoxygenase
|
558 |
609 |
7.3e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167174
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167447
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167585
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169625
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203193
|
| SMART Domains |
Protein: ENSMUSP00000145137
Gene: ENSMUSG00000025702
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
25 |
N/A |
INTRINSIC |
|
RINGv
|
36 |
84 |
2.9e-26 |
SMART |
|
transmembrane domain
|
112 |
134 |
N/A |
INTRINSIC |
|
transmembrane domain
|
149 |
171 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203722
|
| SMART Domains |
Protein: ENSMUSP00000145367
Gene: ENSMUSG00000025701
| Domain | Start | End | E-Value | Type |
|---|
|
LH2
|
2 |
115 |
2.2e-41 |
SMART |
|
Pfam:Lipoxygenase
|
213 |
430 |
3e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170186
|
| SMART Domains |
Protein: ENSMUSP00000130424
Gene: ENSMUSG00000025701
| Domain | Start | End | E-Value | Type |
|---|
|
LH2
|
2 |
115 |
3.41e-39 |
SMART |
|
Pfam:Lipoxygenase
|
150 |
220 |
1.9e-13 |
PFAM |
|
Pfam:Lipoxygenase
|
215 |
432 |
8.6e-79 |
PFAM |
|
Pfam:Lipoxygenase
|
426 |
634 |
1e-73 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the lipoxygenase gene family and plays a dual role in the synthesis of leukotrienes from arachidonic acid. The encoded protein, which is expressed specifically in bone marrow-derived cells, catalyzes the conversion of arachidonic acid to 5(S)-hydroperoxy-6-trans-8,11,14-cis-eicosatetraenoic acid, and further to the allylic epoxide 5(S)-trans-7,9-trans-11,14-cis-eicosatetrenoic acid (leukotriene A4). Leukotrienes are important mediators of a number of inflammatory and allergic conditions. Mutations in the promoter region of this gene lead to a diminished response to antileukotriene drugs used in the treatment of asthma and may also be associated with atherosclerosis and several cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Nullizygous mice show altered inflammatory responses. One null mutation causes resistance to lethal anaphylaxis, abnormal eicosanoid production and neutrophil recruitment while another leads to increased body fat, bone density, leptin and VLDL cholesterol levels and resistance to autoimmune uveitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd53 |
A |
T |
6: 83,740,662 (GRCm39) |
H95L |
probably damaging |
Het |
| Chrnb3 |
A |
G |
8: 27,883,809 (GRCm39) |
Y182C |
probably damaging |
Het |
| Cln5 |
C |
T |
14: 103,309,182 (GRCm39) |
R79* |
probably null |
Het |
| Cntn3 |
C |
A |
6: 102,180,889 (GRCm39) |
V769L |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Il1r1 |
T |
C |
1: 40,352,470 (GRCm39) |
S550P |
probably benign |
Het |
| Klra7 |
T |
A |
6: 130,205,505 (GRCm39) |
T132S |
probably benign |
Het |
| Lrch3 |
A |
G |
16: 32,782,045 (GRCm39) |
N273S |
probably damaging |
Het |
| Lrriq3 |
A |
T |
3: 154,869,660 (GRCm39) |
R328S |
probably benign |
Het |
| Mpp2 |
T |
C |
11: 101,952,898 (GRCm39) |
E318G |
possibly damaging |
Het |
| Or4c122 |
C |
A |
2: 89,079,285 (GRCm39) |
C239F |
probably damaging |
Het |
| Or4n4 |
G |
A |
14: 50,519,431 (GRCm39) |
S93F |
probably damaging |
Het |
| Pglyrp2 |
A |
T |
17: 32,637,673 (GRCm39) |
D118E |
probably damaging |
Het |
| Ppp4c |
A |
G |
7: 126,386,629 (GRCm39) |
S153P |
probably damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,712,027 (GRCm39) |
S1642G |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Unc13d |
A |
G |
11: 115,954,560 (GRCm39) |
F1016S |
probably damaging |
Het |
| Vwa8 |
C |
G |
14: 79,149,658 (GRCm39) |
T140S |
probably damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,037,150 (GRCm39) |
F2046L |
probably damaging |
Het |
| Zfp788 |
A |
G |
7: 41,298,312 (GRCm39) |
H316R |
probably damaging |
Het |
| Zfp994 |
T |
A |
17: 22,420,266 (GRCm39) |
I228F |
probably damaging |
Het |
|
| Other mutations in Alox5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00331:Alox5
|
APN |
6 |
116,392,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00954:Alox5
|
APN |
6 |
116,431,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01610:Alox5
|
APN |
6 |
116,390,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02161:Alox5
|
APN |
6 |
116,400,154 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02653:Alox5
|
APN |
6 |
116,392,438 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02903:Alox5
|
APN |
6 |
116,397,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
clanger
|
UTSW |
6 |
116,391,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
nova
|
UTSW |
6 |
116,389,510 (GRCm39) |
nonsense |
probably null |
|
|
timpani
|
UTSW |
6 |
116,392,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Triangle
|
UTSW |
6 |
116,404,098 (GRCm39) |
splice site |
probably null |
|
|
R0265:Alox5
|
UTSW |
6 |
116,397,323 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0347:Alox5
|
UTSW |
6 |
116,390,513 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0543:Alox5
|
UTSW |
6 |
116,431,278 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0633:Alox5
|
UTSW |
6 |
116,397,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0656:Alox5
|
UTSW |
6 |
116,400,291 (GRCm39) |
splice site |
probably benign |
|
|
R1298:Alox5
|
UTSW |
6 |
116,404,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1416:Alox5
|
UTSW |
6 |
116,400,106 (GRCm39) |
nonsense |
probably null |
|
|
R1484:Alox5
|
UTSW |
6 |
116,431,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1485:Alox5
|
UTSW |
6 |
116,401,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1518:Alox5
|
UTSW |
6 |
116,390,741 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1993:Alox5
|
UTSW |
6 |
116,392,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3125:Alox5
|
UTSW |
6 |
116,404,098 (GRCm39) |
splice site |
probably null |
|
|
R4042:Alox5
|
UTSW |
6 |
116,437,979 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4092:Alox5
|
UTSW |
6 |
116,389,635 (GRCm39) |
intron |
probably benign |
|
|
R4356:Alox5
|
UTSW |
6 |
116,397,219 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4367:Alox5
|
UTSW |
6 |
116,437,924 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4690:Alox5
|
UTSW |
6 |
116,400,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4792:Alox5
|
UTSW |
6 |
116,437,964 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4873:Alox5
|
UTSW |
6 |
116,390,811 (GRCm39) |
splice site |
probably null |
|
|
R4875:Alox5
|
UTSW |
6 |
116,390,811 (GRCm39) |
splice site |
probably null |
|
|
R5135:Alox5
|
UTSW |
6 |
116,390,747 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5242:Alox5
|
UTSW |
6 |
116,437,927 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5343:Alox5
|
UTSW |
6 |
116,390,468 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5780:Alox5
|
UTSW |
6 |
116,397,310 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6348:Alox5
|
UTSW |
6 |
116,391,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6724:Alox5
|
UTSW |
6 |
116,391,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6769:Alox5
|
UTSW |
6 |
116,392,145 (GRCm39) |
splice site |
probably null |
|
|
R6954:Alox5
|
UTSW |
6 |
116,397,241 (GRCm39) |
nonsense |
probably null |
|
|
R7102:Alox5
|
UTSW |
6 |
116,390,429 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7476:Alox5
|
UTSW |
6 |
116,392,394 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7626:Alox5
|
UTSW |
6 |
116,390,756 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7690:Alox5
|
UTSW |
6 |
116,392,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7912:Alox5
|
UTSW |
6 |
116,389,497 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8234:Alox5
|
UTSW |
6 |
116,390,835 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8701:Alox5
|
UTSW |
6 |
116,390,787 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8787:Alox5
|
UTSW |
6 |
116,390,102 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8910:Alox5
|
UTSW |
6 |
116,389,510 (GRCm39) |
nonsense |
probably null |
|
|
R9708:Alox5
|
UTSW |
6 |
116,392,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Alox5
|
UTSW |
6 |
116,401,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTCAATGTCGGACTCTGC -3'
(R):5'- AGACTGGCCTCTCTATACCC -3'
Sequencing Primer
(F):5'- AACCCAGGAGCAAGCTTG -3'
(R):5'- GGCCTCTCTATACCCAGCCAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation