Incidental Mutation 'R5789:Aloxe3'
| ID |
448225 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aloxe3
|
| Ensembl Gene |
ENSMUSG00000020892 |
| Gene Name |
arachidonate lipoxygenase 3 |
| Synonyms |
e-LOX-3 |
| MMRRC Submission |
043383-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5789 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
69016722-69039941 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 69017265 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 13
(Y13H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134814
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021268]
[ENSMUST00000024543]
[ENSMUST00000175661]
[ENSMUST00000180487]
|
| AlphaFold |
Q9WV07 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021268
AA Change: Y13H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000021268
Gene: ENSMUSG00000020892
AA Change: Y13H
| Domain | Start | End | E-Value | Type |
|---|
|
LH2
|
2 |
116 |
1.93e-20 |
SMART |
|
Pfam:Lipoxygenase
|
249 |
697 |
3.4e-76 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024543
|
| SMART Domains |
Protein: ENSMUSP00000024543
Gene: ENSMUSG00000023781
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
18 |
75 |
2.01e-5 |
SMART |
|
low complexity region
|
137 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
188 |
203 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155324
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000175661
AA Change: Y13H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134814
Gene: ENSMUSG00000020892
AA Change: Y13H
| Domain | Start | End | E-Value | Type |
|---|
|
LH2
|
2 |
116 |
1.93e-20 |
SMART |
|
Pfam:Lipoxygenase
|
245 |
377 |
7.6e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180487
|
| SMART Domains |
Protein: ENSMUSP00000137894
Gene: ENSMUSG00000097386
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
40 |
N/A |
INTRINSIC |
|
transmembrane domain
|
87 |
109 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2030 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
97% (61/63) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the lipoxygenase family, which are catabolized by arachidonic acid-derived compounds. The encoded enzyme is a hydroperoxide isomerase that synthesizes a unique type of epoxy alcohol (8R-hydroxy-11R,12R-epoxyeicosa-5Z,9E,14Z-trienoic acid) from 12R-hydroperoxyeicosatetraenoic acid (12R-HPETE). This epoxy alcohol can activate the the nuclear receptor peroxisome proliferator-activated receptor alpha (PPARalpha), which is implicated in epidermal differentiation. Loss of function of the enzyme encoded by this gene results in ichthyosis, implicating the function of this gene in the differentiation of human skin. This gene is part of a cluster of lipoxygenase genes on 17p13.1. Mutations in this gene result in nonbullous congenital ichthyosiform erythroderma (NCIE). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete neonatal lethality, imapired skin barrier function, dehydration, tightly packed stratum corneum, impaired stratum corneum desquamation and reduced levels of ester-bound ceramide in the epidermis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
A |
G |
2: 69,076,108 (GRCm39) |
F1200S |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,979,685 (GRCm39) |
D323V |
probably benign |
Het |
| Aqp1 |
A |
G |
6: 55,313,746 (GRCm39) |
I91V |
probably benign |
Het |
| C9orf72 |
T |
A |
4: 35,226,112 (GRCm39) |
|
probably benign |
Het |
| Carmil1 |
A |
G |
13: 24,305,831 (GRCm39) |
S318P |
probably damaging |
Het |
| Cdan1 |
A |
G |
2: 120,560,016 (GRCm39) |
F383L |
probably benign |
Het |
| Ciao3 |
T |
C |
17: 26,000,177 (GRCm39) |
C303R |
probably benign |
Het |
| Col6a2 |
T |
A |
10: 76,440,223 (GRCm39) |
E606V |
probably damaging |
Het |
| Col6a5 |
T |
C |
9: 105,741,807 (GRCm39) |
T2371A |
possibly damaging |
Het |
| Cops3 |
T |
C |
11: 59,721,106 (GRCm39) |
|
probably benign |
Het |
| Coq7 |
G |
T |
7: 118,128,929 (GRCm39) |
H35Q |
possibly damaging |
Het |
| Cp |
T |
A |
3: 20,011,454 (GRCm39) |
F3I |
probably benign |
Het |
| D630003M21Rik |
C |
T |
2: 158,058,734 (GRCm39) |
E389K |
possibly damaging |
Het |
| Dclre1c |
A |
T |
2: 3,438,993 (GRCm39) |
Q51L |
probably damaging |
Het |
| Dhx37 |
A |
C |
5: 125,498,103 (GRCm39) |
I702S |
possibly damaging |
Het |
| Dnah3 |
G |
T |
7: 119,542,822 (GRCm39) |
A3530D |
possibly damaging |
Het |
| Dnajc13 |
T |
C |
9: 104,091,387 (GRCm39) |
R635G |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,354,217 (GRCm39) |
S3066G |
possibly damaging |
Het |
| Doc2b |
T |
A |
11: 75,676,941 (GRCm39) |
H144L |
probably damaging |
Het |
| Eif2b3 |
T |
A |
4: 116,885,692 (GRCm39) |
I78N |
probably damaging |
Het |
| Enpp1 |
A |
T |
10: 24,523,137 (GRCm39) |
H767Q |
probably benign |
Het |
| Fam180a |
C |
A |
6: 35,290,461 (GRCm39) |
*174L |
probably null |
Het |
| Gabra1 |
A |
T |
11: 42,073,742 (GRCm39) |
|
probably benign |
Het |
| Gfral |
C |
T |
9: 76,104,328 (GRCm39) |
R228Q |
probably benign |
Het |
| Gm16551 |
T |
A |
9: 74,756,535 (GRCm39) |
|
noncoding transcript |
Het |
| Ifi213 |
C |
A |
1: 173,396,360 (GRCm39) |
|
probably benign |
Het |
| Inpp4a |
T |
C |
1: 37,411,410 (GRCm39) |
V358A |
possibly damaging |
Het |
| Kmt2a |
T |
C |
9: 44,731,201 (GRCm39) |
|
probably benign |
Het |
| Mrgprb13 |
A |
T |
7: 47,961,946 (GRCm39) |
|
noncoding transcript |
Het |
| Mtrex |
A |
T |
13: 113,027,819 (GRCm39) |
N680K |
probably benign |
Het |
| Nckap5 |
A |
G |
1: 125,955,439 (GRCm39) |
F371S |
probably damaging |
Het |
| Nudcd1 |
G |
A |
15: 44,251,879 (GRCm39) |
Q428* |
probably null |
Het |
| Pcdhgc5 |
C |
A |
18: 37,954,559 (GRCm39) |
P611Q |
probably damaging |
Het |
| Plekhb1 |
A |
T |
7: 100,294,793 (GRCm39) |
Y193* |
probably null |
Het |
| Prrt1 |
T |
C |
17: 34,850,931 (GRCm39) |
|
probably null |
Het |
| Ptpn12 |
G |
A |
5: 21,194,013 (GRCm39) |
T753I |
possibly damaging |
Het |
| Samsn1 |
T |
C |
16: 75,673,336 (GRCm39) |
D180G |
probably damaging |
Het |
| Sh2d2a |
T |
A |
3: 87,756,820 (GRCm39) |
|
probably benign |
Het |
| Slc12a2 |
T |
A |
18: 58,045,091 (GRCm39) |
|
probably null |
Het |
| Socs3 |
T |
A |
11: 117,858,608 (GRCm39) |
Q150L |
probably benign |
Het |
| Supt6 |
A |
G |
11: 78,124,412 (GRCm39) |
V23A |
unknown |
Het |
| Tcf12 |
T |
C |
9: 71,792,518 (GRCm39) |
Y119C |
probably damaging |
Het |
| Them5 |
A |
G |
3: 94,253,908 (GRCm39) |
E210G |
probably damaging |
Het |
| Tmem135 |
A |
G |
7: 88,845,330 (GRCm39) |
F167S |
possibly damaging |
Het |
| Tmem170 |
A |
G |
8: 112,593,032 (GRCm39) |
V134A |
possibly damaging |
Het |
| Trbv20 |
A |
G |
6: 41,165,725 (GRCm39) |
Y50C |
probably damaging |
Het |
| Uroc1 |
A |
G |
6: 90,321,179 (GRCm39) |
M252V |
probably damaging |
Het |
| Wasf1 |
G |
A |
10: 40,802,570 (GRCm39) |
R75Q |
probably damaging |
Het |
| Xpnpep3 |
T |
A |
15: 81,300,065 (GRCm39) |
|
probably benign |
Het |
| Yars1 |
C |
T |
4: 129,090,690 (GRCm39) |
T78M |
probably damaging |
Het |
| Zdhhc16 |
T |
A |
19: 41,926,572 (GRCm39) |
H98Q |
probably damaging |
Het |
| Zfp90 |
T |
C |
8: 107,150,605 (GRCm39) |
L106P |
probably benign |
Het |
| Zscan22 |
T |
G |
7: 12,637,853 (GRCm39) |
S82A |
probably benign |
Het |
|
| Other mutations in Aloxe3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01621:Aloxe3
|
APN |
11 |
69,020,839 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01925:Aloxe3
|
APN |
11 |
69,019,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01947:Aloxe3
|
APN |
11 |
69,033,847 (GRCm39) |
splice site |
probably benign |
|
|
IGL02421:Aloxe3
|
APN |
11 |
69,020,872 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL03206:Aloxe3
|
APN |
11 |
69,020,472 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL03054:Aloxe3
|
UTSW |
11 |
69,020,433 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1613:Aloxe3
|
UTSW |
11 |
69,020,872 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1757:Aloxe3
|
UTSW |
11 |
69,026,775 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1839:Aloxe3
|
UTSW |
11 |
69,020,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2182:Aloxe3
|
UTSW |
11 |
69,020,426 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2912:Aloxe3
|
UTSW |
11 |
69,020,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2919:Aloxe3
|
UTSW |
11 |
69,033,749 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2920:Aloxe3
|
UTSW |
11 |
69,033,749 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4731:Aloxe3
|
UTSW |
11 |
69,019,480 (GRCm39) |
missense |
probably null |
0.59 |
|
R5245:Aloxe3
|
UTSW |
11 |
69,020,502 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5459:Aloxe3
|
UTSW |
11 |
69,023,654 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5493:Aloxe3
|
UTSW |
11 |
69,019,443 (GRCm39) |
nonsense |
probably null |
|
|
R5725:Aloxe3
|
UTSW |
11 |
69,019,480 (GRCm39) |
missense |
probably null |
0.59 |
|
R5755:Aloxe3
|
UTSW |
11 |
69,023,575 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7343:Aloxe3
|
UTSW |
11 |
69,023,569 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7419:Aloxe3
|
UTSW |
11 |
69,018,353 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7451:Aloxe3
|
UTSW |
11 |
69,033,746 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7669:Aloxe3
|
UTSW |
11 |
69,025,946 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7964:Aloxe3
|
UTSW |
11 |
69,017,362 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8080:Aloxe3
|
UTSW |
11 |
69,023,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8492:Aloxe3
|
UTSW |
11 |
69,017,301 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8694:Aloxe3
|
UTSW |
11 |
69,033,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8998:Aloxe3
|
UTSW |
11 |
69,033,051 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9185:Aloxe3
|
UTSW |
11 |
69,025,114 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9222:Aloxe3
|
UTSW |
11 |
69,023,903 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0019:Aloxe3
|
UTSW |
11 |
69,039,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0020:Aloxe3
|
UTSW |
11 |
69,023,853 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1176:Aloxe3
|
UTSW |
11 |
69,023,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1186:Aloxe3
|
UTSW |
11 |
69,039,429 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1186:Aloxe3
|
UTSW |
11 |
69,019,501 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Aloxe3
|
UTSW |
11 |
69,039,429 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1187:Aloxe3
|
UTSW |
11 |
69,019,501 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Aloxe3
|
UTSW |
11 |
69,039,429 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1188:Aloxe3
|
UTSW |
11 |
69,019,501 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Aloxe3
|
UTSW |
11 |
69,039,429 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1189:Aloxe3
|
UTSW |
11 |
69,019,501 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Aloxe3
|
UTSW |
11 |
69,039,429 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1190:Aloxe3
|
UTSW |
11 |
69,019,501 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Aloxe3
|
UTSW |
11 |
69,039,429 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1191:Aloxe3
|
UTSW |
11 |
69,019,501 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Aloxe3
|
UTSW |
11 |
69,039,429 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1192:Aloxe3
|
UTSW |
11 |
69,019,501 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACGTCCTAGAGCTGGATCCTTC -3'
(R):5'- ATCGTCTCCCAAAAGTCAGGG -3'
Sequencing Primer
(F):5'- TAGAGCTGGATCCTTCCTCAGG -3'
(R):5'- GTTCAGCAGGACTTGACGAATCC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation