Mutagenetix > Incidental Mutation

Incidental Mutation 'R5464:Alox12e'

433174

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

042850-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5464 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70315610-70322628 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70317679 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 483 (Y483C)

Ref Sequence

ENSEMBL: ENSMUSP00000019051 (fasta)

Gene Model

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

AlphaFold

P55249

Predicted Effect

probably damaging
Transcript: ENSMUST00000019051
AA Change: Y483C

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000019051
Gene: ENSMUSG00000018907
AA Change: Y483C

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	G	A	16: 4,864,363	G180E	probably damaging	Het
Acsl1	T	A	8: 46,505,738	D95E	probably benign	Het
Acyp2	C	T	11: 30,506,354	E98K	possibly damaging	Het
Adamts16	T	A	13: 70,761,749	H895L	probably benign	Het
Atp13a2	T	A	4: 141,006,070	F952I	probably damaging	Het
Crot	T	G	5: 8,983,690		probably null	Het
Dnaja1	T	A	4: 40,724,133	M98K	probably benign	Het
Eps8	C	T	6: 137,527,475	G87R	probably damaging	Het
Flg2	C	A	3: 93,201,970	T435K	possibly damaging	Het
Gm16286	C	T	18: 80,211,923	A144V	probably damaging	Het
Gpatch4	T	C	3: 88,054,755		probably null	Het
Heatr1	T	A	13: 12,433,643	M1795K	probably benign	Het
Ift52	T	C	2: 163,029,815	V189A	probably benign	Het
Kif21a	T	A	15: 90,993,855	D250V	probably damaging	Het
Lrrc66	T	C	5: 73,608,279	T474A	probably benign	Het
Mcub	T	C	3: 129,915,716	E316G	probably benign	Het
Mettl15	C	T	2: 109,191,622	V113I	probably benign	Het
Mroh8	T	A	2: 157,221,230	I824F	probably damaging	Het
Mrpl19	A	G	6: 81,962,011	M270T	probably damaging	Het
Olfr1187-ps1	T	C	2: 88,540,255	Y58C	probably null	Het
Olfr33	T	C	7: 102,713,682	T244A	probably benign	Het
Olfr559	A	G	7: 102,723,917	V191A	possibly damaging	Het
Olfr561	A	G	7: 102,775,433	K303R	probably benign	Het
Olfr628	T	A	7: 103,732,189	W88R	probably damaging	Het
Olfr644	C	A	7: 104,068,467	R188L	possibly damaging	Het
Olfr963	A	T	9: 39,669,770	T238S	probably damaging	Het
Olfr986	T	C	9: 40,187,784	I223T	probably damaging	Het
Olfr993	AAGTCTGGAGTC	AAGTC	2: 85,414,713		probably null	Het
Pacs1	T	C	19: 5,147,207	M430V	probably benign	Het
Piezo2	A	G	18: 63,145,105	S243P	probably damaging	Het
Ppp1r36	A	T	12: 76,428,078		probably null	Het
Prdm16	T	A	4: 154,346,144		probably null	Het
Prss36	A	T	7: 127,934,233	W97R	probably damaging	Het
Psmg4	A	T	13: 34,178,064	I112F	probably damaging	Het
Ptpru	C	T	4: 131,772,557	G1259R	probably damaging	Het
Rsph4a	T	C	10: 33,909,341	I416T	possibly damaging	Het
Scn2a	C	T	2: 65,701,756	R571C	probably damaging	Het
Selenbp1	A	G	3: 94,944,416	M423V	probably benign	Het
Serpina3i	G	A	12: 104,268,492	A361T	possibly damaging	Het
Serpinb3c	A	T	1: 107,271,704	D362E	probably damaging	Het
Sf3a3	T	C	4: 124,728,240		probably null	Het
Sgcg	A	G	14: 61,236,855	V113A	possibly damaging	Het
Slc3a2	T	C	19: 8,713,644	K74R	probably damaging	Het
Smco1	T	A	16: 32,273,876	W122R	probably damaging	Het
Snx19	A	G	9: 30,427,973	K136E	possibly damaging	Het
Trim32	A	G	4: 65,614,388	N394S	probably damaging	Het
Uqcrb	T	C	13: 66,900,825	D87G	probably damaging	Het
Wipf3	T	C	6: 54,485,323	S173P	possibly damaging	Het
Zfp473	T	C	7: 44,732,638	E756G	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
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
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'- AGCCCAGGAATGATCATTAGGG -3'
(R):5'- GAAATCTTCTCTGTATGCCCAGG -3'

Sequencing Primer
(F):5'- CCAGGAATGATCATTAGGGCTTCTG -3'
(R):5'- TCTCAAAAGCCCTTGCC -3'

Posted On

2016-10-06