Mutagenetix > Incidental Mutation

Incidental Mutation 'R4463:Alox12e'

381228

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

041721-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4463 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70315610-70322628 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70318256 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 388 (L388P)

Ref Sequence

ENSEMBL: ENSMUSP00000019051 (fasta)

Gene Model

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

AlphaFold

P55249

Predicted Effect

probably damaging
Transcript: ENSMUST00000019051
AA Change: L388P

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

SMART Domains

Protein: ENSMUSP00000019051
Gene: ENSMUSG00000018907
AA Change: L388P

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	A	G	7: 28,150,719	M1197V	probably benign	Het
Abcb1a	T	C	5: 8,719,981		probably benign	Het
Abcc8	T	C	7: 46,106,581		probably null	Het
Aspm	T	A	1: 139,455,010	S27T	possibly damaging	Het
Capn2	G	A	1: 182,479,764		probably benign	Het
Catspere1	G	A	1: 177,937,713		noncoding transcript	Het
Ccdc158	T	C	5: 92,634,300	D820G	probably null	Het
Cdkn2d	C	G	9: 21,290,889	V21L	probably benign	Het
Chd9	T	A	8: 90,978,999	D761E	probably benign	Het
Chst8	T	C	7: 34,675,220	D398G	probably damaging	Het
Clns1a	T	C	7: 97,720,949		probably benign	Het
Cyp3a57	A	T	5: 145,381,274	Y355F	probably damaging	Het
Cyp4f37	A	G	17: 32,627,736		probably null	Het
Eipr1	G	A	12: 28,859,339	A202T	probably damaging	Het
Fam83a	T	C	15: 57,995,259	S232P	probably damaging	Het
Fastkd2	C	T	1: 63,735,809		probably benign	Het
Fgfr4	G	A	13: 55,156,467	V107I	probably benign	Het
Gatad1	G	T	5: 3,647,404	S72R	probably benign	Het
Gli2	T	C	1: 118,836,008	D1471G	probably damaging	Het
Gm1330	A	T	2: 149,003,144	Y36*	probably null	Het
Gm2056	A	G	12: 88,027,359	D119G	probably benign	Het
Gm29125	T	C	1: 80,383,186		noncoding transcript	Het
Idi1	G	A	13: 8,887,472		probably benign	Het
Itgbl1	C	T	14: 123,840,668	T190I	probably damaging	Het
Kbtbd3	G	A	9: 4,331,257	G544R	probably damaging	Het
Kifc3	T	C	8: 95,102,116	T638A	probably damaging	Het
Lama1	G	A	17: 67,761,700	C798Y	probably damaging	Het
Larp6	C	A	9: 60,736,996	H140N	probably damaging	Het
Mctp1	A	T	13: 76,712,087	D108V	probably damaging	Het
Myzap	G	T	9: 71,555,651	D204E	probably benign	Het
Neb	GCC	GC	2: 52,279,722		probably null	Het
Olfr1189	T	C	2: 88,592,632	V276A	possibly damaging	Het
Olfr1340	T	C	4: 118,726,658	V137A	probably benign	Het
Olfr352	T	C	2: 36,870,193	I209T	probably benign	Het
Phka1	A	G	X: 102,545,384	V818A	probably benign	Het
Plek	T	C	11: 16,981,873	Y326C	possibly damaging	Het
Pp2d1	A	G	17: 53,515,858	I60T	probably benign	Het
Prmt3	T	C	7: 49,818,089	Y348H	probably damaging	Het
Psg27	G	T	7: 18,557,085	Q398K	possibly damaging	Het
Raver1	T	C	9: 21,091,827	T51A	probably benign	Het
Ripk2	T	C	4: 16,151,968	N197S	possibly damaging	Het
Sectm1a	T	A	11: 121,069,651	I113L	probably benign	Het
Slc2a4	G	A	11: 69,943,322		probably benign	Het
Snph	A	T	2: 151,594,115	S229T	probably damaging	Het
Stpg4	A	G	17: 87,389,673	F183L	probably benign	Het
Tango6	A	T	8: 106,689,074	T176S	probably benign	Het
Vmn1r196	A	G	13: 22,293,683	Q164R	probably benign	Het
Vstm4	T	A	14: 32,917,876	L236Q	probably damaging	Het
Xylb	A	G	9: 119,386,367	D462G	probably benign	Het
Zc2hc1c	A	G	12: 85,290,297	R243G	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
R0593:Alox12e	UTSW	11	70320897	splice site	probably benign
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
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'- GGCCATTCAAGTATGAGGCG -3'
(R):5'- TGCTGGAATTACGATAGCAAACAC -3'

Sequencing Primer
(F):5'- CCTCCCGTGTAGAGCTGAGTTTG -3'
(R):5'- TACGATAGCAAACACAAAATTATGC -3'

Posted On

2016-04-20