Mutagenetix > Incidental Mutation

Incidental Mutation 'R7353:Alox12e'

570756

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

045439-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7353 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70315610-70322628 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70321435 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 139 (Y139C)

Ref Sequence

ENSEMBL: ENSMUSP00000019051 (fasta)

Gene Model

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

AlphaFold

P55249

Predicted Effect

probably damaging
Transcript: ENSMUST00000019051
AA Change: Y139C

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

SMART Domains

Protein: ENSMUSP00000019051
Gene: ENSMUSG00000018907
AA Change: Y139C

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: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	C	A	13: 119,488,178 (GRCm38)	A11S	unknown	Het
Aadacl4	G	A	4: 144,617,920 (GRCm38)	V89I	probably damaging	Het
Abcc9	T	A	6: 142,601,005 (GRCm38)	I1369F	probably damaging	Het
Adgrf3	T	A	5: 30,198,497 (GRCm38)	I427F	probably damaging	Het
Arhgef2	T	A	3: 88,635,686 (GRCm38)	V397E	possibly damaging	Het
Arhgef28	T	A	13: 98,075,202 (GRCm38)	Y91F	probably damaging	Het
Bcar3	A	G	3: 122,512,692 (GRCm38)	T454A	probably benign	Het
Bicc1	G	T	10: 70,947,900 (GRCm38)	T469K	probably benign	Het
Boc	C	T	16: 44,485,737 (GRCm38)	V1070M	unknown	Het
Ccdc88a	T	A	11: 29,463,368 (GRCm38)	N635K	probably benign	Het
Ccr2	T	C	9: 124,106,756 (GRCm38)	S358P	probably damaging	Het
Ccser2	T	C	14: 36,941,143 (GRCm38)	Q28R	possibly damaging	Het
Cenpf	T	A	1: 189,654,138 (GRCm38)	K1982*	probably null	Het
Csn1s2a	A	T	5: 87,785,302 (GRCm38)	I137F	possibly damaging	Het
Cttnbp2	A	T	6: 18,375,944 (GRCm38)	I1532K	possibly damaging	Het
Dnajc13	C	A	9: 104,230,031 (GRCm38)	R304L	possibly damaging	Het
Dopey1	T	A	9: 86,512,859 (GRCm38)	M664K	probably damaging	Het
Emilin3	T	A	2: 160,908,821 (GRCm38)	E336V	probably damaging	Het
Eml5	A	G	12: 98,825,424 (GRCm38)	Y63H		Het
Fbxo41	G	T	6: 85,479,976 (GRCm38)	R404S	possibly damaging	Het
Gm8897	G	A	5: 11,416,436 (GRCm38)	D7N	possibly damaging	Het
Gpr155	A	T	2: 73,367,491 (GRCm38)	Y456*	probably null	Het
Gpr156	T	A	16: 37,992,161 (GRCm38)	N286K	probably damaging	Het
Kcna5	A	G	6: 126,534,845 (GRCm38)	S107P	probably benign	Het
Kcne2	A	T	16: 92,296,822 (GRCm38)	H79L	possibly damaging	Het
Kcnh4	T	A	11: 100,757,199 (GRCm38)	M113L	probably benign	Het
Lad1	T	A	1: 135,827,775 (GRCm38)	L263Q	probably damaging	Het
Lctl	G	A	9: 64,126,967 (GRCm38)	G296D	probably damaging	Het
Lmtk3	A	T	7: 45,788,000 (GRCm38)	I205F	possibly damaging	Het
Magel2	G	T	7: 62,379,331 (GRCm38)	R661L	unknown	Het
Mcm10	G	A	2: 5,007,109 (GRCm38)	P180S	possibly damaging	Het
Mia3	G	T	1: 183,327,392 (GRCm38)	A446D		Het
N4bp2	G	A	5: 65,806,371 (GRCm38)	V588M	probably benign	Het
Naip6	C	T	13: 100,299,751 (GRCm38)	V755M	probably benign	Het
Neurl1a	T	C	19: 47,240,660 (GRCm38)	V213A	probably damaging	Het
Nrd1	A	G	4: 109,039,749 (GRCm38)	T522A	probably damaging	Het
Ntng1	T	C	3: 110,135,447 (GRCm38)	Q21R	probably damaging	Het
Nup160	T	C	2: 90,703,952 (GRCm38)	L707S	probably damaging	Het
Oas2	A	T	5: 120,738,522 (GRCm38)	V452D	probably damaging	Het
Olfr3	A	G	2: 36,812,903 (GRCm38)	L63P	probably damaging	Het
Olfr350	A	T	2: 36,850,069 (GRCm38)	M8L	probably benign	Het
Olfr351	G	A	2: 36,859,668 (GRCm38)	R227*	probably null	Het
Olfr519	A	G	7: 108,894,222 (GRCm38)	F67L	probably damaging	Het
Olfr593	A	C	7: 103,212,309 (GRCm38)	T150P	probably damaging	Het
Plekhg1	A	T	10: 3,964,327 (GRCm38)	T1405S		Het
Pnrc1	G	A	4: 33,248,300 (GRCm38)	P33L	probably damaging	Het
Prkag2	A	T	5: 24,880,686 (GRCm38)	V312E	possibly damaging	Het
Rps17	T	A	7: 81,344,345 (GRCm38)	E76V	possibly damaging	Het
Rsph10b	G	A	5: 143,967,220 (GRCm38)	G672S	possibly damaging	Het
Slc2a13	T	C	15: 91,321,604 (GRCm38)	N460S	probably benign	Het
Slco2b1	A	T	7: 99,690,557 (GRCm38)	C56S	possibly damaging	Het
Spn	T	C	7: 127,137,006 (GRCm38)	T110A	probably benign	Het
Sult2a8	T	C	7: 14,413,715 (GRCm38)	N217S	possibly damaging	Het
Tbx2	C	A	11: 85,833,489 (GRCm38)	T128N	probably damaging	Het
Tecpr2	A	T	12: 110,967,844 (GRCm38)	M1313L	probably benign	Het
Tmc2	G	A	2: 130,196,577 (GRCm38)		probably null	Het
Tstd1	G	T	1: 171,419,955 (GRCm38)	A69S	probably damaging	Het
Txnrd3	A	G	6: 89,661,585 (GRCm38)	D252G	probably benign	Het
Ulk2	T	C	11: 61,819,348 (GRCm38)	N345D	probably damaging	Het
Unc13c	T	C	9: 73,574,073 (GRCm38)	D1694G	probably benign	Het
Vill	T	C	9: 119,065,493 (GRCm38)	V406A	probably damaging	Het
Vmn2r115	T	C	17: 23,345,913 (GRCm38)	V258A	possibly damaging	Het
Vmn2r82	T	A	10: 79,396,618 (GRCm38)	M817K	probably benign	Het
Xpnpep3	T	C	15: 81,430,887 (GRCm38)	S263P	probably benign	Het
Zfp980	A	G	4: 145,702,144 (GRCm38)	D481G	probably benign	Het
Zmpste24	A	G	4: 121,095,581 (GRCm38)	S81P	probably damaging	Het
Znrf4	A	G	17: 56,512,169 (GRCm38)	V46A	probably benign	Het

Other mutations in Alox12e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00837:Alox12e	APN	11	70,321,054 (GRCm38)	missense	probably benign
IGL01781:Alox12e	APN	11	70,321,456 (GRCm38)	missense	probably damaging	1.00
R0284:Alox12e	UTSW	11	70,320,899 (GRCm38)	splice site	probably benign
R0417:Alox12e	UTSW	11	70,321,865 (GRCm38)	missense	probably benign	0.12
R0557:Alox12e	UTSW	11	70,321,448 (GRCm38)	missense	possibly damaging	0.80
R0593:Alox12e	UTSW	11	70,320,897 (GRCm38)	splice site	probably benign
R1479:Alox12e	UTSW	11	70,320,782 (GRCm38)	missense	probably benign	0.04
R1967:Alox12e	UTSW	11	70,317,856 (GRCm38)	missense	probably benign	0.18
R1996:Alox12e	UTSW	11	70,316,208 (GRCm38)	missense	probably benign	0.00
R2062:Alox12e	UTSW	11	70,316,002 (GRCm38)	missense	probably damaging	1.00
R2063:Alox12e	UTSW	11	70,316,002 (GRCm38)	missense	probably damaging	1.00
R2067:Alox12e	UTSW	11	70,316,002 (GRCm38)	missense	probably damaging	1.00
R2068:Alox12e	UTSW	11	70,316,002 (GRCm38)	missense	probably damaging	1.00
R2147:Alox12e	UTSW	11	70,319,945 (GRCm38)	missense	probably damaging	1.00
R2307:Alox12e	UTSW	11	70,321,261 (GRCm38)	missense	probably damaging	1.00
R3034:Alox12e	UTSW	11	70,316,253 (GRCm38)	missense	probably benign	0.01
R3739:Alox12e	UTSW	11	70,319,842 (GRCm38)	missense	probably damaging	1.00
R4463:Alox12e	UTSW	11	70,318,256 (GRCm38)	missense	probably damaging	1.00
R4572:Alox12e	UTSW	11	70,321,181 (GRCm38)	intron	probably benign
R5004:Alox12e	UTSW	11	70,321,504 (GRCm38)	missense	probably benign	0.00
R5113:Alox12e	UTSW	11	70,315,995 (GRCm38)	missense	possibly damaging	0.70
R5155:Alox12e	UTSW	11	70,316,255 (GRCm38)	missense	possibly damaging	0.61
R5464:Alox12e	UTSW	11	70,317,679 (GRCm38)	missense	probably damaging	0.99
R5471:Alox12e	UTSW	11	70,320,024 (GRCm38)	missense	probably benign	0.17
R5501:Alox12e	UTSW	11	70,316,229 (GRCm38)	missense	probably benign	0.01
R5915:Alox12e	UTSW	11	70,318,224 (GRCm38)	missense	possibly damaging	0.81
R6033:Alox12e	UTSW	11	70,316,013 (GRCm38)	missense	probably benign	0.03
R6033:Alox12e	UTSW	11	70,316,013 (GRCm38)	missense	probably benign	0.03
R6102:Alox12e	UTSW	11	70,320,023 (GRCm38)	missense	possibly damaging	0.65
R6380:Alox12e	UTSW	11	70,321,101 (GRCm38)	missense	probably benign	0.00
R6452:Alox12e	UTSW	11	70,320,005 (GRCm38)	missense	probably damaging	0.96
R7175:Alox12e	UTSW	11	70,319,708 (GRCm38)	missense	probably damaging	1.00
R7220:Alox12e	UTSW	11	70,315,905 (GRCm38)	missense	probably benign	0.02
R7542:Alox12e	UTSW	11	70,321,756 (GRCm38)	missense	possibly damaging	0.69
R7916:Alox12e	UTSW	11	70,321,285 (GRCm38)	missense	probably benign
R8314:Alox12e	UTSW	11	70,316,172 (GRCm38)	missense	possibly damaging	0.83
R8331:Alox12e	UTSW	11	70,321,097 (GRCm38)	missense	probably benign	0.01
R9027:Alox12e	UTSW	11	70,321,774 (GRCm38)	missense	possibly damaging	0.68
R9380:Alox12e	UTSW	11	70,316,168 (GRCm38)	critical splice donor site	probably null
R9641:Alox12e	UTSW	11	70,321,435 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCATGAATCTCTGGTTCCGG -3'
(R):5'- ACTATCTGCCTAACCGAGGG -3'

Sequencing Primer
(F):5'- AATCTCTGGTTCCGGGGGAG -3'
(R):5'- TGCCGCTGAAGGATGCAG -3'

Posted On

2019-09-13