Mutagenetix > Incidental Mutation

Incidental Mutation 'R0593:Alox12e'

56065

Institutional Source

Beutler Lab

Gene Symbol

Alox12e

Ensembl Gene

ENSMUSG00000018907

Gene Name

arachidonate lipoxygenase, epidermal

Synonyms

8-LOX, Alox12-ps1, Alox12-ps2, Aloxe, e-LOX1

MMRRC Submission

038783-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0593 (G1)

Quality Score

207

Status

Validated

Chromosome

Chromosomal Location

70315610-70322628 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 70320897 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000019051 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019051]

AlphaFold

P55249

Predicted Effect

probably benign
Transcript: ENSMUST00000019051

SMART Domains

Protein: ENSMUSP00000019051
Gene: ENSMUSG00000018907

Domain	Start	End	E-Value	Type
LH2	2	111	9.49e-38	SMART
Pfam:Lipoxygenase	163	649	1.2e-60	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123752

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139899

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149060

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 96.9%
20x: 93.4%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	C	11: 110,068,099	D733G	probably damaging	Het
Acmsd	T	C	1: 127,738,603		probably benign	Het
Adam34	T	C	8: 43,651,687	Y307C	possibly damaging	Het
Ankrd50	C	A	3: 38,483,007	G29*	probably null	Het
Arhgap17	T	C	7: 123,286,743		probably benign	Het
Asah1	A	G	8: 41,349,582	M141T	probably benign	Het
Atg2a	GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	19: 6,245,007		probably benign	Het
Bsn	A	T	9: 108,110,306	I2749N	unknown	Het
Cds2	G	A	2: 132,297,376		probably benign	Het
Ckmt2	A	G	13: 91,853,638	V384A	probably damaging	Het
Clock	A	G	5: 76,265,836	S71P	probably benign	Het
Cops6	A	G	5: 138,163,580	T96A	probably benign	Het
Csnka2ip	A	T	16: 64,478,612	V19D	probably damaging	Het
Dcaf17	T	A	2: 71,087,400		probably null	Het
Dscam	T	C	16: 96,772,408	K785E	probably benign	Het
Eif2d	T	A	1: 131,155,728		probably benign	Het
Gal3st2b	T	C	1: 93,940,827	V258A	probably benign	Het
Gucy2c	T	C	6: 136,728,335	N534S	probably damaging	Het
Hook1	C	T	4: 95,998,786	T210I	possibly damaging	Het
Ifi203	T	C	1: 173,928,649		probably benign	Het
Irf7	T	C	7: 141,265,062		probably benign	Het
Lrp2	C	T	2: 69,467,006	V3204I	probably benign	Het
Mtx2	A	G	2: 74,869,436		probably benign	Het
Nelfcd	G	T	2: 174,423,430	V248L	probably benign	Het
Olfr1349	T	A	7: 6,514,809	N207Y	probably benign	Het
Oosp1	T	C	19: 11,668,412	S121G	probably benign	Het
Sec16b	G	C	1: 157,532,148	G164R	probably benign	Het
Slc22a14	T	A	9: 119,169,851	D561V	probably benign	Het
Tet2	G	A	3: 133,488,109	T188I	probably benign	Het
Tex10	C	T	4: 48,456,800	R637Q	probably benign	Het
Trp53bp1	A	G	2: 121,270,528	V63A	possibly damaging	Het
Ube2d2a	T	G	18: 35,770,385		probably benign	Het
Vmn1r113	T	A	7: 20,787,463	V60E	probably damaging	Het

Other mutations in Alox12e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00837:Alox12e	APN	11	70321054	missense	probably benign
IGL01781:Alox12e	APN	11	70321456	missense	probably damaging	1.00
R0284:Alox12e	UTSW	11	70320899	splice site	probably benign
R0417:Alox12e	UTSW	11	70321865	missense	probably benign	0.12
R0557:Alox12e	UTSW	11	70321448	missense	possibly damaging	0.80
R1479:Alox12e	UTSW	11	70320782	missense	probably benign	0.04
R1967:Alox12e	UTSW	11	70317856	missense	probably benign	0.18
R1996:Alox12e	UTSW	11	70316208	missense	probably benign	0.00
R2062:Alox12e	UTSW	11	70316002	missense	probably damaging	1.00
R2063:Alox12e	UTSW	11	70316002	missense	probably damaging	1.00
R2067:Alox12e	UTSW	11	70316002	missense	probably damaging	1.00
R2068:Alox12e	UTSW	11	70316002	missense	probably damaging	1.00
R2147:Alox12e	UTSW	11	70319945	missense	probably damaging	1.00
R2307:Alox12e	UTSW	11	70321261	missense	probably damaging	1.00
R3034:Alox12e	UTSW	11	70316253	missense	probably benign	0.01
R3739:Alox12e	UTSW	11	70319842	missense	probably damaging	1.00
R4463:Alox12e	UTSW	11	70318256	missense	probably damaging	1.00
R4572:Alox12e	UTSW	11	70321181	intron	probably benign
R5004:Alox12e	UTSW	11	70321504	missense	probably benign	0.00
R5113:Alox12e	UTSW	11	70315995	missense	possibly damaging	0.70
R5155:Alox12e	UTSW	11	70316255	missense	possibly damaging	0.61
R5464:Alox12e	UTSW	11	70317679	missense	probably damaging	0.99
R5471:Alox12e	UTSW	11	70320024	missense	probably benign	0.17
R5501:Alox12e	UTSW	11	70316229	missense	probably benign	0.01
R5915:Alox12e	UTSW	11	70318224	missense	possibly damaging	0.81
R6033:Alox12e	UTSW	11	70316013	missense	probably benign	0.03
R6033:Alox12e	UTSW	11	70316013	missense	probably benign	0.03
R6102:Alox12e	UTSW	11	70320023	missense	possibly damaging	0.65
R6380:Alox12e	UTSW	11	70321101	missense	probably benign	0.00
R6452:Alox12e	UTSW	11	70320005	missense	probably damaging	0.96
R7175:Alox12e	UTSW	11	70319708	missense	probably damaging	1.00
R7220:Alox12e	UTSW	11	70315905	missense	probably benign	0.02
R7353:Alox12e	UTSW	11	70321435	missense	probably damaging	1.00
R7542:Alox12e	UTSW	11	70321756	missense	possibly damaging	0.69
R7916:Alox12e	UTSW	11	70321285	missense	probably benign
R8314:Alox12e	UTSW	11	70316172	missense	possibly damaging	0.83
R8331:Alox12e	UTSW	11	70321097	missense	probably benign	0.01
R9027:Alox12e	UTSW	11	70321774	missense	possibly damaging	0.68
R9380:Alox12e	UTSW	11	70316168	critical splice donor site	probably null
R9641:Alox12e	UTSW	11	70321435	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCATAAGCTAAACAGAGGCAGCTC -3'
(R):5'- TGCACGGTGTTCTTTGCACAGG -3'

Sequencing Primer
(F):5'- AGGCAGCTCAGCACCTTG -3'
(R):5'- TGCACAGGTTGAAGAACTTTGC -3'

Posted On

2013-07-11