Mutagenetix > Incidental Mutation

Incidental Mutation 'R3739:Alox12e'

270302

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

040725-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3739 (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 70319842 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 318 (L318P)

Ref Sequence

ENSEMBL: ENSMUSP00000019051 (fasta)

Gene Model

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

AlphaFold

P55249

Predicted Effect

probably damaging
Transcript: ENSMUST00000019051
AA Change: L318P

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

SMART Domains

Protein: ENSMUSP00000019051
Gene: ENSMUSG00000018907
AA Change: L318P

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: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	A	T	11: 49,019,281	L775*	probably null	Het
Abcb8	A	G	5: 24,400,621	S168G	probably benign	Het
Ahnak2	T	C	12: 112,774,558	I1027V	probably benign	Het
Ankrd11	A	G	8: 122,896,715		probably benign	Het
Anks1b	T	A	10: 90,033,216	I46N	probably damaging	Het
Apoa5	G	C	9: 46,269,117	W7S	probably damaging	Het
Arnt2	T	C	7: 84,343,801	H177R	probably null	Het
Cacna1c	T	C	6: 118,741,952	D220G	probably benign	Het
Dst	C	T	1: 34,268,894		probably benign	Het
Eml6	C	A	11: 29,803,137	V925L	probably benign	Het
Fbll1	G	A	11: 35,797,678	H253Y	possibly damaging	Het
Galnt1	A	G	18: 24,271,655	T350A	probably benign	Het
Gbp10	T	A	5: 105,224,458	E145D	possibly damaging	Het
Gfm1	T	C	3: 67,456,700	I503T	probably damaging	Het
Hmcn2	A	T	2: 31,336,612	K200*	probably null	Het
Ifi203	T	A	1: 173,929,474		probably benign	Het
Itgbl1	T	C	14: 123,966,678	F394L	probably damaging	Het
Itpkc	T	A	7: 27,227,604	D295V	possibly damaging	Het
Klra17	T	A	6: 129,873,365	I41F	probably benign	Het
Lcorl	A	T	5: 45,734,041	N323K	possibly damaging	Het
Ltbp2	A	T	12: 84,804,474	C836S	probably damaging	Het
Mfsd2b	A	G	12: 4,870,578	S80P	probably damaging	Het
Ms4a18	A	T	19: 11,011,499	H164Q	probably damaging	Het
Mybbp1a	A	G	11: 72,448,737	H882R	possibly damaging	Het
Myh9	G	A	15: 77,766,812	R1612C	probably damaging	Het
Myo18a	A	G	11: 77,845,615	D1514G	probably damaging	Het
Nsun2	T	C	13: 69,629,638	I441T	probably benign	Het
Ntng1	A	T	3: 109,934,691	D255E	probably damaging	Het
Olfr1385	A	G	11: 49,495,460	D309G	possibly damaging	Het
Osbpl2	G	A	2: 180,161,560	R475H	probably damaging	Het
Pclo	A	C	5: 14,680,899	K3138N	unknown	Het
Pcsk7	A	G	9: 45,926,759	T572A	possibly damaging	Het
Pex11a	C	T	7: 79,740,170	R56H	possibly damaging	Het
Pnmal2	C	T	7: 16,946,596	H502Y	probably benign	Het
Saa4	T	A	7: 46,729,629	N96Y	possibly damaging	Het
Serpinb6d	T	A	13: 33,667,680	V140E	probably damaging	Het
Srsf4	C	T	4: 131,900,102		probably benign	Het
St18	G	A	1: 6,855,473		probably null	Het
Taf3	T	C	2: 9,951,658	E566G	possibly damaging	Het
Tnr	T	C	1: 159,923,413	S1315P	possibly damaging	Het
Trappc11	T	C	8: 47,514,103	E412G	probably damaging	Het
Trpc2	G	A	7: 102,084,504	S220N	probably damaging	Het
Trpm7	A	G	2: 126,851,521	V48A	probably damaging	Het
Tubb6	A	G	18: 67,402,051	Y340C	probably damaging	Het
Vmn1r197	C	A	13: 22,328,576	Y222*	probably null	Het
Vmn2r97	T	C	17: 18,928,151	S103P	probably damaging	Het
Zfp362	C	G	4: 128,786,889		probably benign	Het
Zfp423	A	G	8: 87,781,344	C666R	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
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'- AACTCCTCATTGTGGCCACAG -3'
(R):5'- ATTTCTCCCTGCTGGATGGAG -3'

Sequencing Primer
(F):5'- TTGTGGCCACAGAAATAACCTCG -3'
(R):5'- CTGCTGGATGGAGTCAAACCTAAC -3'

Posted On

2015-03-18