Mutagenetix > Incidental Mutation

Incidental Mutation 'R1839:Aloxe3'

205620

Institutional Source

Beutler Lab

Gene Symbol

Aloxe3

Ensembl Gene

ENSMUSG00000020892

Gene Name

arachidonate lipoxygenase 3

Synonyms

e-LOX-3

MMRRC Submission

045015-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1839 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69016722-69039941 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69020911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 212 (Y212C)

Ref Sequence

ENSEMBL: ENSMUSP00000134814 (fasta)

Gene Model

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

AlphaFold

Q9WV07

Predicted Effect

probably damaging
Transcript: ENSMUST00000021268
AA Change: Y212C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000021268
Gene: ENSMUSG00000020892
AA Change: Y212C

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 damaging
Transcript: ENSMUST00000175661
AA Change: Y212C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134814
Gene: ENSMUSG00000020892
AA Change: Y212C

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

Meta Mutation Damage Score

0.7319

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.7%
20x: 90.6%

Validation Efficiency

98% (90/92)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,203,369 (GRCm39)	T403A	probably damaging	Het
Acat3	T	A	17: 13,147,493 (GRCm39)	R175*	probably null	Het
Adam1b	C	A	5: 121,639,104 (GRCm39)	C647F	probably damaging	Het
Adam28	T	C	14: 68,876,659 (GRCm39)	N197S	possibly damaging	Het
Adcy2	C	T	13: 68,837,380 (GRCm39)		probably null	Het
Adcy5	A	T	16: 35,069,310 (GRCm39)	N426I	probably damaging	Het
Adgre1	T	C	17: 57,748,299 (GRCm39)	S500P	probably benign	Het
Ap3d1	A	G	10: 80,562,942 (GRCm39)	S180P	probably damaging	Het
Arhgap20	C	T	9: 51,760,626 (GRCm39)	R790W	probably damaging	Het
Atp8b4	C	A	2: 126,203,702 (GRCm39)	A757S	possibly damaging	Het
Begain	G	A	12: 109,001,249 (GRCm39)		probably benign	Het
Ccdc141	T	C	2: 76,842,009 (GRCm39)	E1474G	probably benign	Het
Ccdc88b	A	G	19: 6,831,477 (GRCm39)		probably benign	Het
Ccnk	A	G	12: 108,161,333 (GRCm39)	T195A	probably damaging	Het
Cd55b	C	A	1: 130,341,842 (GRCm39)	C265F	probably damaging	Het
Celsr3	A	G	9: 108,707,105 (GRCm39)	H1196R	probably benign	Het
Cenpt	T	C	8: 106,575,646 (GRCm39)	S190G	possibly damaging	Het
Chd8	T	C	14: 52,442,340 (GRCm39)	S2077G	probably benign	Het
Col6a5	G	A	9: 105,742,032 (GRCm39)	H2296Y	probably benign	Het
Cxxc4	C	A	3: 133,946,414 (GRCm39)	H332N	probably damaging	Het
Cyp24a1	T	C	2: 170,338,661 (GRCm39)	I12V	probably benign	Het
Cyp3a57	T	A	5: 145,318,111 (GRCm39)	L364Q	probably damaging	Het
Ddi2	T	C	4: 141,440,837 (GRCm39)	I47V	probably benign	Het
Ddx5	A	T	11: 106,675,723 (GRCm39)	D322E	probably benign	Het
Dhx40	A	G	11: 86,680,123 (GRCm39)	C405R	possibly damaging	Het
Emc1	T	C	4: 139,087,796 (GRCm39)	F100S	probably damaging	Het
Exoc2	T	C	13: 31,090,480 (GRCm39)		probably benign	Het
Gm10110	A	T	14: 90,135,272 (GRCm39)		noncoding transcript	Het
Gm17332	T	C	11: 31,132,386 (GRCm39)	H26R	possibly damaging	Het
Gna12	T	C	5: 140,748,367 (GRCm39)	N183S	probably benign	Het
Gpx6	A	G	13: 21,496,497 (GRCm39)	N24D	probably benign	Het
Gsdma3	C	T	11: 98,520,684 (GRCm39)	A105V	probably benign	Het
Hsd3b5	T	C	3: 98,527,044 (GRCm39)	Y134C	probably benign	Het
Ifi213	T	C	1: 173,417,166 (GRCm39)	I415M	probably damaging	Het
Ints9	C	A	14: 65,253,979 (GRCm39)	P278T	probably damaging	Het
Krt79	C	T	15: 101,846,373 (GRCm39)	E192K	possibly damaging	Het
Lrrk2	A	G	15: 91,567,337 (GRCm39)	N132S	probably benign	Het
Ltn1	T	A	16: 87,213,152 (GRCm39)	K470*	probably null	Het
Magi2	A	T	5: 20,670,825 (GRCm39)	T163S	probably damaging	Het
Mcm9	A	G	10: 53,417,649 (GRCm39)	M18T	probably damaging	Het
Med12l	A	G	3: 58,975,740 (GRCm39)	T212A	probably benign	Het
Mfhas1	T	C	8: 36,058,012 (GRCm39)	L829P	possibly damaging	Het
Mgme1	T	A	2: 144,121,407 (GRCm39)	C288S	probably benign	Het
Muc4	G	C	16: 32,753,919 (GRCm38)	R1265P	probably benign	Het
Myh7	T	C	14: 55,210,637 (GRCm39)	N1725S	possibly damaging	Het
Naa80	G	A	9: 107,460,216 (GRCm39)	R37H	possibly damaging	Het
Nme4	A	T	17: 26,311,071 (GRCm39)	W165R	probably damaging	Het
Nup205	T	A	6: 35,196,649 (GRCm39)	D1128E	probably benign	Het
Or2t48	A	T	11: 58,420,199 (GRCm39)	Y204*	probably null	Het
Or5ae2	T	C	7: 84,505,756 (GRCm39)	Y60H	probably damaging	Het
Pcdh1	T	C	18: 38,332,538 (GRCm39)	D155G	possibly damaging	Het
Pex12	A	T	11: 83,188,648 (GRCm39)	S116T	probably damaging	Het
Plekhh1	C	T	12: 79,125,731 (GRCm39)		probably benign	Het
Plekhh3	A	G	11: 101,054,426 (GRCm39)		probably benign	Het
Pnpt1	T	C	11: 29,104,342 (GRCm39)	M572T	possibly damaging	Het
Ppp1r12b	T	C	1: 134,765,719 (GRCm39)	R667G	probably benign	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Rgs14	T	C	13: 55,530,651 (GRCm39)		probably benign	Het
Rhbdf2	A	T	11: 116,491,017 (GRCm39)	V645E	possibly damaging	Het
Robo3	A	G	9: 37,333,623 (GRCm39)	V696A	probably benign	Het
Sall1	A	G	8: 89,755,344 (GRCm39)	F1212L	possibly damaging	Het
Sdc4	T	C	2: 164,270,932 (GRCm39)	E109G	probably benign	Het
Serpind1	G	T	16: 17,160,856 (GRCm39)	R462L	probably damaging	Het
Smad9	CTTT	CTT	3: 54,696,600 (GRCm39)		probably benign	Het
Sstr4	C	A	2: 148,237,453 (GRCm39)	N21K	probably benign	Het
Tap1	C	T	17: 34,407,083 (GRCm39)	A77V	possibly damaging	Het
Thap4	T	C	1: 93,678,009 (GRCm39)	E259G	probably benign	Het
Thra	A	G	11: 98,646,969 (GRCm39)	N30S	probably benign	Het
Tmem207	A	T	16: 26,343,571 (GRCm39)	V27E	possibly damaging	Het
Top3a	A	G	11: 60,644,714 (GRCm39)	V305A	probably damaging	Het
Trim59	A	T	3: 68,944,971 (GRCm39)	I123K	probably damaging	Het
Ttn	T	C	2: 76,691,839 (GRCm39)		probably benign	Het
Ubac1	T	A	2: 25,897,750 (GRCm39)	E290V	possibly damaging	Het
Unc13b	T	C	4: 43,258,308 (GRCm39)		probably benign	Het
Uri1	A	T	7: 37,666,814 (GRCm39)	D206E	probably benign	Het
Utp4	A	G	8: 107,640,086 (GRCm39)	H465R	probably benign	Het
Uvssa	T	C	5: 33,547,096 (GRCm39)	S221P	probably benign	Het
Vmn1r39	T	C	6: 66,782,217 (GRCm39)		probably null	Het
Vps39	A	T	2: 120,155,878 (GRCm39)	L514H	probably damaging	Het
Vps72	G	A	3: 95,026,529 (GRCm39)	R158Q	possibly damaging	Het
Wdr59	T	C	8: 112,211,972 (GRCm39)	D366G	probably benign	Het
Zfp366	C	A	13: 99,365,000 (GRCm39)	Q54K	probably damaging	Het
Zfp523	T	A	17: 28,413,967 (GRCm39)	I34N	probably damaging	Het
Zfp974	G	A	7: 27,609,781 (GRCm39)	P648L	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- CCTCACGTGGTTAGCAGAGG -3'
(R):5'- GGGACCACACCCTGAATAGG -3'

Sequencing Primer
(F):5'- AAGAAAGAGGTTCCTTCTGCTTTG -3'
(R):5'- CCTGAATAGGGAGGAGATGAAGGAC -3'

Posted On

2014-06-23