Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01621:Aloxe3'

92571

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aloxe3

Ensembl Gene

ENSMUSG00000020892

Gene Name

arachidonate lipoxygenase 3

Synonyms

e-LOX-3

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01621

Quality Score

Status

Chromosome

Chromosomal Location

69016722-69039941 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69020839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 188 (N188S)

Ref Sequence

ENSEMBL: ENSMUSP00000134814 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021268] [ENSMUST00000175661]

AlphaFold

Q9WV07

Predicted Effect

probably benign
Transcript: ENSMUST00000021268
AA Change: N188S

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000021268
Gene: ENSMUSG00000020892
AA Change: N188S

Domain	Start	End	E-Value	Type
LH2	2	116	1.93e-20	SMART
Pfam:Lipoxygenase	249	697	3.4e-76	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155324

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156874

Predicted Effect

probably benign
Transcript: ENSMUST00000175661
AA Change: N188S

PolyPhen 2 Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000134814
Gene: ENSMUSG00000020892
AA Change: N188S

Domain	Start	End	E-Value	Type
LH2	2	116	1.93e-20	SMART
Pfam:Lipoxygenase	245	377	7.6e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176087

Coding Region Coverage

Validation Efficiency

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	T	5: 64,055,726 (GRCm39)	T154I	possibly damaging	Het
4933434E20Rik	T	A	3: 89,971,809 (GRCm39)	M56K	possibly damaging	Het
Abca6	A	G	11: 110,075,534 (GRCm39)	L1319S	probably damaging	Het
Adh4	C	T	3: 138,134,788 (GRCm39)		probably benign	Het
Ap1s1	G	A	5: 137,070,658 (GRCm39)	R119*	probably null	Het
Apc2	T	G	10: 80,142,035 (GRCm39)	L318R	probably damaging	Het
Atg101	A	G	15: 101,184,976 (GRCm39)	S33G	possibly damaging	Het
Atp8a2	A	T	14: 60,253,317 (GRCm39)		probably benign	Het
Bpifb9b	C	A	2: 154,158,871 (GRCm39)		probably null	Het
Braf	A	T	6: 39,623,787 (GRCm39)		probably benign	Het
Cabp5	A	G	7: 13,135,189 (GRCm39)	D43G	probably damaging	Het
Cfap46	T	C	7: 139,186,523 (GRCm39)	N2462S	unknown	Het
Cit	C	T	5: 116,130,662 (GRCm39)		probably benign	Het
Cpa4	T	C	6: 30,574,415 (GRCm39)	V68A	probably damaging	Het
Cyp2j5	T	C	4: 96,517,791 (GRCm39)	I474V	probably benign	Het
Dennd1a	C	A	2: 37,734,821 (GRCm39)	D49Y	probably damaging	Het
Dlg5	T	C	14: 24,198,289 (GRCm39)	D1525G	probably damaging	Het
Dnajc18	C	T	18: 35,813,893 (GRCm39)	R292H	probably benign	Het
Dync2h1	A	G	9: 7,140,897 (GRCm39)		probably null	Het
E2f6	A	G	12: 16,875,369 (GRCm39)	D268G	probably benign	Het
Evi2b	T	A	11: 79,407,126 (GRCm39)	T150S	probably damaging	Het
F13b	A	G	1: 139,431,589 (GRCm39)	D53G	probably benign	Het
Fbxo38	G	A	18: 62,655,595 (GRCm39)		probably benign	Het
Flnb	C	T	14: 7,950,470 (GRCm38)	P2596L	probably damaging	Het
Fyco1	A	G	9: 123,656,247 (GRCm39)		probably benign	Het
Gm21759	A	G	5: 8,229,775 (GRCm39)		probably benign	Het
Gtse1	A	G	15: 85,759,283 (GRCm39)	N597S	probably benign	Het
Hcn3	G	T	3: 89,055,030 (GRCm39)	S739Y	probably damaging	Het
Ighv9-4	T	A	12: 114,263,612 (GRCm39)	N107I	probably damaging	Het
Inava	C	A	1: 136,147,513 (GRCm39)	A402S	probably damaging	Het
Iqub	T	C	6: 24,446,211 (GRCm39)	K738E	probably benign	Het
Itga6	A	T	2: 71,656,000 (GRCm39)	D308V	probably benign	Het
Klf12	T	C	14: 100,260,585 (GRCm39)	Y48C	probably damaging	Het
Klhdc9	A	G	1: 171,186,384 (GRCm39)	*351Q	probably null	Het
Krt40	A	T	11: 99,433,694 (GRCm39)	N97K	probably damaging	Het
Lrit1	A	C	14: 36,782,112 (GRCm39)	T262P	probably damaging	Het
Mcoln1	T	C	8: 3,560,910 (GRCm39)	Y411H	probably damaging	Het
Mfsd4a	A	G	1: 131,981,881 (GRCm39)	S149P	probably benign	Het
Minar2	A	G	18: 59,195,458 (GRCm39)	M1V	probably null	Het
Mipep	A	G	14: 61,033,614 (GRCm39)		probably benign	Het
Mslnl	A	G	17: 25,962,641 (GRCm39)		probably benign	Het
N4bp2	A	T	5: 65,948,267 (GRCm39)	H299L	probably damaging	Het
Nbn	C	T	4: 15,965,221 (GRCm39)	P190S	probably benign	Het
Nos1	T	A	5: 118,083,949 (GRCm39)	I1253N	probably damaging	Het
Nup210	G	T	6: 91,007,099 (GRCm39)	F572L	probably damaging	Het
Or10k2	T	C	8: 84,268,247 (GRCm39)	V158A	probably benign	Het
Or1e30	T	C	11: 73,678,103 (GRCm39)	F113S	probably damaging	Het
Or2y11	T	C	11: 49,442,964 (GRCm39)	L130P	probably damaging	Het
P4htm	T	A	9: 108,460,935 (GRCm39)	E106V	probably damaging	Het
Pcdhb20	C	T	18: 37,637,860 (GRCm39)	H129Y	possibly damaging	Het
Pdcd6ip	T	C	9: 113,514,490 (GRCm39)	E240G	probably benign	Het
Pex5l	T	C	3: 33,069,110 (GRCm39)		probably null	Het
Plcd1	T	C	9: 118,905,246 (GRCm39)	N181S	probably damaging	Het
Plekhg6	G	T	6: 125,349,062 (GRCm39)	L412M	probably damaging	Het
Ppp1r13b	T	A	12: 111,801,526 (GRCm39)	Q386L	possibly damaging	Het
Pramel25	T	C	4: 143,520,502 (GRCm39)	F85L	probably benign	Het
Prpf40b	A	G	15: 99,207,926 (GRCm39)		probably benign	Het
Rdh11	C	T	12: 79,233,187 (GRCm39)		probably null	Het
Ripor3	A	T	2: 167,839,172 (GRCm39)	S110T	probably damaging	Het
Sec24d	G	A	3: 123,087,807 (GRCm39)		probably null	Het
Secisbp2l	T	C	2: 125,615,131 (GRCm39)	S165G	probably benign	Het
Shank1	C	T	7: 43,991,889 (GRCm39)	A698V	unknown	Het
Shank1	T	C	7: 44,001,023 (GRCm39)	M914T	unknown	Het
Slc22a3	T	C	17: 12,677,379 (GRCm39)	Q263R	probably benign	Het
Smc1a	C	A	X: 150,819,125 (GRCm39)	Q647K	probably damaging	Het
Sohlh1	A	G	2: 25,736,873 (GRCm39)		probably benign	Het
Tacc2	C	A	7: 130,331,498 (GRCm39)	T484K	probably damaging	Het
Ubr4	G	T	4: 139,168,094 (GRCm39)	E2825*	probably null	Het
Wbp2nl	G	A	15: 82,192,806 (GRCm39)	M163I	probably benign	Het
Zfp69	T	A	4: 120,788,697 (GRCm39)	K206M	probably damaging	Het
Zswim3	G	A	2: 164,663,440 (GRCm39)	R640H	probably damaging	Het

Other mutations in Aloxe3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5789:Aloxe3	UTSW	11	69,017,265 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2013-12-09