Mutagenetix > Incidental Mutation

Incidental Mutation 'R8314:Alox12e'

641580

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8314 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70315610-70322628 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70316172 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 603 (M603V)

Ref Sequence

ENSEMBL: ENSMUSP00000019051 (fasta)

Gene Model

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

AlphaFold

P55249

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019051
AA Change: M603V

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000019051
Gene: ENSMUSG00000018907
AA Change: M603V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059G10Rik	T	A	9: 122,948,928	T84S	probably benign	Het
4921501E09Rik	C	A	17: 33,067,064	A255S	probably benign	Het
4930533K18Rik	A	G	10: 70,875,276	T76A	noncoding transcript	Het
Adgrl1	C	T	8: 83,938,389	T1235I	probably damaging	Het
Ak4	C	T	4: 101,463,585	T197M	possibly damaging	Het
Ap3d1	A	T	10: 80,723,539	I267N	possibly damaging	Het
Arhgef2	T	A	3: 88,621,293	I12N	probably benign	Het
Asnsd1	A	T	1: 53,346,655	M520K	probably damaging	Het
B3galt5	T	C	16: 96,315,449	L94P	probably damaging	Het
Birc3	T	C	9: 7,872,941		probably benign	Het
Cd177	T	C	7: 24,750,588	S541G	probably benign	Het
Cdh8	T	C	8: 99,171,379	D434G	probably damaging	Het
Cdkn3	A	T	14: 46,769,873		silent	Het
Ciita	A	T	16: 10,510,988	R379W	probably damaging	Het
Cntrl	T	A	2: 35,175,143	M2153K	probably benign	Het
Csmd1	A	T	8: 16,158,244	D1232E	probably benign	Het
Cyp4a30b	A	C	4: 115,458,338	H252P	probably benign	Het
Dad1	G	A	14: 54,253,812	R11W	probably damaging	Het
Ddit3	A	G	10: 127,295,721		probably null	Het
Dusp22	G	A	13: 30,708,931		probably benign	Het
Dzank1	A	G	2: 144,502,958	L293P	probably damaging	Het
Edf1	A	G	2: 25,557,965	D5G	probably damaging	Het
Ep400	T	A	5: 110,755,753	M327L	unknown	Het
Fam135a	A	T	1: 24,021,921	H1341Q	possibly damaging	Het
Fam150b	G	T	12: 30,884,851	G23V	probably damaging	Het
Fam189b	T	C	3: 89,188,146		probably null	Het
Fbxl3	C	T	14: 103,089,440	V169I	probably benign	Het
Gm4787	A	G	12: 81,379,135	L83P	probably damaging	Het
Habp4	A	G	13: 64,184,751	E392G	probably damaging	Het
Hspg2	C	A	4: 137,539,675	P1997Q	probably benign	Het
Ints9	T	C	14: 65,029,030	S444P	probably damaging	Het
Kif18b	G	A	11: 102,913,074	S420L	probably benign	Het
Klhl17	T	A	4: 156,234,013	M51L	probably benign	Het
Kmt2b	C	T	7: 30,578,922	E1555K	probably damaging	Het
Malrd1	T	A	2: 15,752,832	D972E	unknown	Het
Mapk8ip3	A	T	17: 24,901,774	S805R	probably benign	Het
Mmp13	G	A	9: 7,272,931	C97Y	probably damaging	Het
Moxd1	T	A	10: 24,252,540	N163K	possibly damaging	Het
Nbea	T	C	3: 56,009,251	I863V	probably damaging	Het
Nectin4	A	G	1: 171,384,727	T298A	probably benign	Het
Net1	T	C	13: 3,912,672		probably benign	Het
Ntn1	T	C	11: 68,385,624	D166G	probably damaging	Het
Olfr1137	A	G	2: 87,711,202	F235L	probably benign	Het
Olfr140	T	C	2: 90,052,097	T76A	probably benign	Het
Olfr391-ps	T	G	11: 73,799,742	N5T	noncoding transcript	Het
Olfr620	T	C	7: 103,612,047	Q102R	probably damaging	Het
Olfr948	A	G	9: 39,319,305	F103S	probably damaging	Het
Opa3	C	A	7: 19,245,015	A135E	possibly damaging	Het
Osbpl5	T	C	7: 143,695,096	I608V	probably benign	Het
Phc1	A	C	6: 122,320,978	S782R	unknown	Het
Pip5k1b	T	A	19: 24,355,199	T374S	probably benign	Het
Prkaa1	A	G	15: 5,178,873	S541G	probably damaging	Het
Ptpn20	A	G	14: 33,622,547	N143D	possibly damaging	Het
Rabep1	A	G	11: 70,893,660	D207G	possibly damaging	Het
Rbbp8	G	A	18: 11,720,625	M296I	probably benign	Het
Recql4	C	A	15: 76,710,180	R46L	probably damaging	Het
Scgb2b18	T	C	7: 33,173,157	I74M	probably benign	Het
Shc4	A	G	2: 125,655,616	I391T	possibly damaging	Het
Slc38a4	A	G	15: 97,010,309	F184L	probably benign	Het
Slc7a6	A	G	8: 106,168,958		probably benign	Het
Smim13	G	T	13: 41,272,634	G49*	probably null	Het
Tbc1d19	A	G	5: 53,897,047	D459G	probably damaging	Het
Tnpo1	T	C	13: 98,884,625	N82S	possibly damaging	Het
Tpp2	G	A	1: 43,934,227	V47I	probably benign	Het
Umodl1	G	T	17: 30,984,832	A540S	probably damaging	Het
Vmn2r83	G	A	10: 79,481,479	V519I	possibly damaging	Het
Zfp641	T	C	15: 98,290,583	I139V	probably damaging	Het
Zfyve21	A	T	12: 111,823,281	I60F	probably benign	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
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
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'- GCTCCTCCTGGAATTGCTTCAG -3'
(R):5'- GCAGTCAGCCTGAATTTCTGAG -3'

Sequencing Primer
(F):5'- GCTTCAGCACATCCCGG -3'
(R):5'- GTCAGCCTGAATTTCTGAGTAACTC -3'

Posted On

2020-07-28