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

69125896-69149115 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69130013 bp (GRCm38)

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: 63,898,383	T154I	possibly damaging	Het
4933434E20Rik	T	A	3: 90,064,502	M56K	possibly damaging	Het
5730559C18Rik	C	A	1: 136,219,775	A402S	probably damaging	Het
A730017C20Rik	A	G	18: 59,062,386	M1V	probably null	Het
Abca6	A	G	11: 110,184,708	L1319S	probably damaging	Het
Adh4	C	T	3: 138,429,027		probably benign	Het
Ap1s1	G	A	5: 137,041,804	R119*	probably null	Het
Apc2	T	G	10: 80,306,201	L318R	probably damaging	Het
Atg101	A	G	15: 101,287,095	S33G	possibly damaging	Het
Atp8a2	A	T	14: 60,015,868		probably benign	Het
Bpifb9b	C	A	2: 154,316,951		probably null	Het
Braf	A	T	6: 39,646,853		probably benign	Het
Cabp5	A	G	7: 13,401,264	D43G	probably damaging	Het
Cfap46	T	C	7: 139,606,607	N2462S	unknown	Het
Cit	C	T	5: 115,992,603		probably benign	Het
Cpa4	T	C	6: 30,574,416	V68A	probably damaging	Het
Cyp2j5	T	C	4: 96,629,554	I474V	probably benign	Het
Dennd1a	C	A	2: 37,844,809	D49Y	probably damaging	Het
Dlg5	T	C	14: 24,148,221	D1525G	probably damaging	Het
Dnajc18	C	T	18: 35,680,840	R292H	probably benign	Het
Dync2h1	A	G	9: 7,140,897		probably null	Het
E2f6	A	G	12: 16,825,368	D268G	probably benign	Het
Evi2b	T	A	11: 79,516,300	T150S	probably damaging	Het
F13b	A	G	1: 139,503,851	D53G	probably benign	Het
Fbxo38	G	A	18: 62,522,524		probably benign	Het
Flnb	C	T	14: 7,950,470	P2596L	probably damaging	Het
Fyco1	A	G	9: 123,827,182		probably benign	Het
Gm13023	T	C	4: 143,793,932	F85L	probably benign	Het
Gm21759	A	G	5: 8,179,775		probably benign	Het
Gtse1	A	G	15: 85,875,082	N597S	probably benign	Het
Hcn3	G	T	3: 89,147,723	S739Y	probably damaging	Het
Ighv9-4	T	A	12: 114,299,992	N107I	probably damaging	Het
Iqub	T	C	6: 24,446,212	K738E	probably benign	Het
Itga6	A	T	2: 71,825,656	D308V	probably benign	Het
Klf12	T	C	14: 100,023,149	Y48C	probably damaging	Het
Klhdc9	A	G	1: 171,358,816	*351Q	probably null	Het
Krt40	A	T	11: 99,542,868	N97K	probably damaging	Het
Lrit1	A	C	14: 37,060,155	T262P	probably damaging	Het
Mcoln1	T	C	8: 3,510,910	Y411H	probably damaging	Het
Mfsd4a	A	G	1: 132,054,143	S149P	probably benign	Het
Mipep	A	G	14: 60,796,165		probably benign	Het
Mslnl	A	G	17: 25,743,667		probably benign	Het
N4bp2	A	T	5: 65,790,924	H299L	probably damaging	Het
Nbn	C	T	4: 15,965,221	P190S	probably benign	Het
Nos1	T	A	5: 117,945,884	I1253N	probably damaging	Het
Nup210	G	T	6: 91,030,117	F572L	probably damaging	Het
Olfr1381	T	C	11: 49,552,137	L130P	probably damaging	Het
Olfr370	T	C	8: 83,541,618	V158A	probably benign	Het
Olfr390	T	C	11: 73,787,277	F113S	probably damaging	Het
P4htm	T	A	9: 108,583,736	E106V	probably damaging	Het
Pcdhb20	C	T	18: 37,504,807	H129Y	possibly damaging	Het
Pdcd6ip	T	C	9: 113,685,422	E240G	probably benign	Het
Pex5l	T	C	3: 33,014,961		probably null	Het
Plcd1	T	C	9: 119,076,178	N181S	probably damaging	Het
Plekhg6	G	T	6: 125,372,099	L412M	probably damaging	Het
Ppp1r13b	T	A	12: 111,835,092	Q386L	possibly damaging	Het
Prpf40b	A	G	15: 99,310,045		probably benign	Het
Rdh11	C	T	12: 79,186,413		probably null	Het
Ripor3	A	T	2: 167,997,252	S110T	probably damaging	Het
Sec24d	G	A	3: 123,294,158		probably null	Het
Secisbp2l	T	C	2: 125,773,211	S165G	probably benign	Het
Shank1	C	T	7: 44,342,465	A698V	unknown	Het
Shank1	T	C	7: 44,351,599	M914T	unknown	Het
Slc22a3	T	C	17: 12,458,492	Q263R	probably benign	Het
Smc1a	C	A	X: 152,036,129	Q647K	probably damaging	Het
Sohlh1	A	G	2: 25,846,861		probably benign	Het
Tacc2	C	A	7: 130,729,768	T484K	probably damaging	Het
Ubr4	G	T	4: 139,440,783	E2825*	probably null	Het
Wbp2nl	G	A	15: 82,308,605	M163I	probably benign	Het
Zfp69	T	A	4: 120,931,500	K206M	probably damaging	Het
Zswim3	G	A	2: 164,821,520	R640H	probably damaging	Het

Other mutations in Aloxe3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01925:Aloxe3	APN	11	69128633	missense	probably damaging	1.00
IGL01947:Aloxe3	APN	11	69143021	splice site	probably benign
IGL02421:Aloxe3	APN	11	69130046	missense	possibly damaging	0.87
IGL03206:Aloxe3	APN	11	69129646	missense	possibly damaging	0.74
IGL03054:Aloxe3	UTSW	11	69129607	missense	possibly damaging	0.78
R1613:Aloxe3	UTSW	11	69130046	missense	possibly damaging	0.87
R1757:Aloxe3	UTSW	11	69135949	missense	possibly damaging	0.72
R1839:Aloxe3	UTSW	11	69130085	missense	probably damaging	1.00
R2182:Aloxe3	UTSW	11	69129600	missense	possibly damaging	0.93
R2912:Aloxe3	UTSW	11	69130040	missense	probably damaging	1.00
R2919:Aloxe3	UTSW	11	69142923	missense	probably damaging	0.99
R2920:Aloxe3	UTSW	11	69142923	missense	probably damaging	0.99
R4731:Aloxe3	UTSW	11	69128654	missense	probably null	0.59
R5245:Aloxe3	UTSW	11	69129676	missense	probably benign	0.00
R5459:Aloxe3	UTSW	11	69132828	missense	possibly damaging	0.66
R5493:Aloxe3	UTSW	11	69128617	nonsense	probably null
R5725:Aloxe3	UTSW	11	69128654	missense	probably null	0.59
R5755:Aloxe3	UTSW	11	69132749	missense	probably benign	0.04
R5789:Aloxe3	UTSW	11	69126439	missense	probably damaging	1.00
R7343:Aloxe3	UTSW	11	69132743	missense	probably benign	0.00
R7419:Aloxe3	UTSW	11	69127527	missense	probably benign	0.00
R7451:Aloxe3	UTSW	11	69142920	missense	possibly damaging	0.90
R7669:Aloxe3	UTSW	11	69135120	missense	probably benign	0.00
R7964:Aloxe3	UTSW	11	69126536	missense	probably damaging	0.99
R8080:Aloxe3	UTSW	11	69133074	missense	probably damaging	1.00
R8492:Aloxe3	UTSW	11	69126475	missense	possibly damaging	0.61
R8694:Aloxe3	UTSW	11	69142851	missense	probably damaging	1.00
R8998:Aloxe3	UTSW	11	69142225	missense	probably benign	0.03
R9185:Aloxe3	UTSW	11	69134288	missense	probably damaging	0.99
R9222:Aloxe3	UTSW	11	69133077	missense	probably damaging	0.99
X0019:Aloxe3	UTSW	11	69148735	missense	probably damaging	1.00
X0020:Aloxe3	UTSW	11	69133027	critical splice acceptor site	probably null
Z1176:Aloxe3	UTSW	11	69133079	missense	probably damaging	1.00
Z1186:Aloxe3	UTSW	11	69128675	missense	probably benign
Z1186:Aloxe3	UTSW	11	69148603	missense	probably benign	0.00
Z1187:Aloxe3	UTSW	11	69128675	missense	probably benign
Z1187:Aloxe3	UTSW	11	69148603	missense	probably benign	0.00
Z1188:Aloxe3	UTSW	11	69128675	missense	probably benign
Z1188:Aloxe3	UTSW	11	69148603	missense	probably benign	0.00
Z1189:Aloxe3	UTSW	11	69128675	missense	probably benign
Z1189:Aloxe3	UTSW	11	69148603	missense	probably benign	0.00
Z1190:Aloxe3	UTSW	11	69128675	missense	probably benign
Z1190:Aloxe3	UTSW	11	69148603	missense	probably benign	0.00
Z1191:Aloxe3	UTSW	11	69128675	missense	probably benign
Z1191:Aloxe3	UTSW	11	69148603	missense	probably benign	0.00
Z1192:Aloxe3	UTSW	11	69128675	missense	probably benign
Z1192:Aloxe3	UTSW	11	69148603	missense	probably benign	0.00

Posted On

2013-12-09