Mutagenetix > Incidental Mutation

Incidental Mutation 'R2307:Alox12e'

244643

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

040306-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2307 (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 70321261 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 170 (K170R)

Ref Sequence

ENSEMBL: ENSMUSP00000019051 (fasta)

Gene Model

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

AlphaFold

P55249

Predicted Effect

probably damaging
Transcript: ENSMUST00000019051
AA Change: K170R

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

SMART Domains

Protein: ENSMUSP00000019051
Gene: ENSMUSG00000018907
AA Change: K170R

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: 99.4%
3x: 98.6%
10x: 97.0%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	T	C	12: 55,304,316	F137L	probably damaging	Het
Acot5	T	C	12: 84,075,601	F320L	possibly damaging	Het
Ano2	T	C	6: 125,992,886	S722P	probably benign	Het
Cep192	A	G	18: 67,813,899	Y215C	probably benign	Het
Ces2g	A	G	8: 104,968,412	N555S	probably benign	Het
Cfap58	C	T	19: 47,962,486	Q429*	probably null	Het
Clcnkb	A	G	4: 141,412,329	S121P	probably damaging	Het
Cltb	T	A	13: 54,598,751	E67D	probably damaging	Het
Ddhd1	A	T	14: 45,608,990	L581Q	probably damaging	Het
Dnajc3	T	C	14: 118,953,221		probably null	Het
Fgf14	T	A	14: 123,983,822	N190I	probably damaging	Het
Galnt17	T	G	5: 130,900,622	Y449S	probably damaging	Het
Grin3a	C	T	4: 49,793,033		probably null	Het
Gxylt2	A	G	6: 100,787,212	N286S	probably damaging	Het
H2-K1	A	G	17: 33,997,139	V120A	probably benign	Het
Inpp5f	T	C	7: 128,694,310	V168A	probably damaging	Het
Kif1a	G	T	1: 93,078,769	H59N	probably damaging	Het
Krt24	T	C	11: 99,284,630	Q193R	possibly damaging	Het
Krtap5-4	C	A	7: 142,303,614	S7*	probably null	Het
Ltn1	A	G	16: 87,432,424		probably null	Het
Mcm2	G	A	6: 88,893,008	R60C	probably damaging	Het
Mep1b	A	T	18: 21,088,575	D194V	probably damaging	Het
Orc3	C	T	4: 34,586,503	V382M	probably damaging	Het
Pclo	T	A	5: 14,678,651		probably benign	Het
Pcolce	T	C	5: 137,609,094	H45R	probably damaging	Het
Prf1	T	C	10: 61,303,163	V300A	possibly damaging	Het
Prss53	T	C	7: 127,890,865	I18V	probably benign	Het
Rnase2b	A	G	14: 51,162,731	T90A	probably benign	Het
Rpap1	G	A	2: 119,783,766	P50L	probably benign	Het
Rrnad1	A	T	3: 87,926,855	M171K	possibly damaging	Het
Rsf1	CG	CGACGGCGGGG	7: 97,579,908		probably benign	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Sec16b	G	A	1: 157,535,492	V298I	probably damaging	Het
Smarcd3	C	T	5: 24,595,748	R156Q	probably damaging	Het
St6galnac2	C	T	11: 116,681,905	A242T	probably damaging	Het
Syce1l	T	C	8: 113,643,305		probably null	Het
Tcam1	T	C	11: 106,284,114	C132R	probably damaging	Het
Trpa1	T	C	1: 14,912,381	I84V	probably benign	Het
Ttn	G	A	2: 76,886,998	R455*	probably null	Het
Ubl5	T	A	9: 20,646,580		probably benign	Het
Ubr2	T	A	17: 46,966,215	K779*	probably null	Het
Ugt1a10	A	G	1: 88,055,947	I156V	probably benign	Het
Unc13b	A	G	4: 43,239,854	T3513A	probably damaging	Het
Vmn1r20	C	T	6: 57,432,136	T149I	probably benign	Het
Zfp804a	T	A	2: 82,256,857	D343E	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
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
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'- CCAGGCAGAGCAGTCTTTGTATG -3'
(R):5'- TCGGTGAGTTCAAGAAAACTGTC -3'

Sequencing Primer
(F):5'- GGAATACTTTCTGGTAATCTTCCAGC -3'
(R):5'- AACTGTCGATCGCCCTCTAGAG -3'

Posted On

2014-10-30