Mutagenetix > Incidental Mutations

Incidental Mutation 'R3034:Alox12e'

264792

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

040550-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3034 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70315610-70322628 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70316253 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 576 (I576V)

Ref Sequence

ENSEMBL: ENSMUSP00000019051 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000019051
AA Change: I576V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000019051
Gene: ENSMUSG00000018907
AA Change: I576V

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol7a	T	G	15: 77,389,723	I180L	probably benign	Het
Aptx	T	C	4: 40,694,994	N114S	probably benign	Het
Cd40	T	A	2: 165,062,315	S65R	probably benign	Het
Cdh23	C	T	10: 60,409,010		probably benign	Het
Coro7	G	A	16: 4,632,291	R565W	probably damaging	Het
Cpt1a	C	T	19: 3,378,390	T588M	probably damaging	Het
Defb23	A	G	2: 152,459,269	S128P	possibly damaging	Het
Dgki	G	A	6: 37,087,670	H250Y	probably damaging	Het
Fgr	T	C	4: 132,998,496		probably null	Het
Fkbp15	T	C	4: 62,306,892		probably null	Het
Gpr137c	C	T	14: 45,220,276	S95L	probably damaging	Het
Kirrel	T	C	3: 87,083,439	D692G	possibly damaging	Het
Krt1	C	A	15: 101,850,633	R32L	unknown	Het
Lama2	C	T	10: 27,001,235	E2652K	probably benign	Het
Mbl1	C	A	14: 41,158,833	S226Y	probably damaging	Het
Mrps28	T	A	3: 8,923,615	D61V	probably benign	Het
Mthfd1	A	G	12: 76,289,470	K299E	probably benign	Het
Myo1b	A	G	1: 51,773,247	Y738H	possibly damaging	Het
Myo5c	A	G	9: 75,286,577	T1205A	probably benign	Het
Nfatc2	C	T	2: 168,535,020	G317S	probably damaging	Het
Nln	C	T	13: 104,037,439	V525I	possibly damaging	Het
Nrap	T	C	19: 56,364,005	E549G	probably damaging	Het
Nwd2	T	A	5: 63,800,103	Y259N	probably damaging	Het
Oas3	T	C	5: 120,771,056	D275G	probably damaging	Het
Olfr294	A	T	7: 86,615,762	D294E	possibly damaging	Het
Ovch2	A	G	7: 107,785,492	S473P	probably damaging	Het
Pde8b	T	A	13: 95,222,767	Y16F	probably damaging	Het
Pmfbp1	A	T	8: 109,520,921		probably null	Het
Pmvk	T	C	3: 89,468,517	V74A	probably damaging	Het
Rab36	G	A	10: 75,044,496	V63I	probably damaging	Het
Rbm26	T	A	14: 105,153,445	T202S	unknown	Het
Rheb	C	T	5: 24,803,723	E166K	probably damaging	Het
Rnf5	A	G	17: 34,603,358	V39A	possibly damaging	Het
Scn7a	T	C	2: 66,682,808	Y1168C	probably damaging	Het
Tas2r114	A	G	6: 131,689,648	I139T	probably benign	Het
Tma7	T	C	9: 109,082,206		probably benign	Het
Tmem181a	T	A	17: 6,280,626	S13T	possibly damaging	Het
Tmem62	C	T	2: 120,979,124		probably benign	Het
Trim71	T	C	9: 114,512,844	D790G	probably damaging	Het
Trp53tg5	T	C	2: 164,471,299	K152R	probably benign	Het
Uhrf1bp1	T	A	17: 27,894,746	D1297E	probably damaging	Het
Zdbf2	C	A	1: 63,304,205	A581E	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
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

Predicted Primers

PCR Primer
(F):5'- ATGGCTCAGGACATTGGGTC -3'
(R):5'- TCAGCACGCATCTACACATCTG -3'

Sequencing Primer
(F):5'- TGGGTCTCTCTCAGGCAAGAATAC -3'
(R):5'- CTACACATCTGGGTCAGGTAATCTG -3'

Posted On

2015-02-05