Mutagenetix > Incidental Mutation

Incidental Mutation 'R9641:Alox12e'

726009

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9641 (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: 99.9%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	C	10: 100,594,636	F52L	possibly damaging	Het
2010300C02Rik	C	T	1: 37,624,511	A769T	possibly damaging	Het
Abca16	T	C	7: 120,527,085	C1156R	possibly damaging	Het
Abcg3	A	C	5: 104,936,617	S571A	probably benign	Het
Abi3	C	A	11: 95,833,677	L259F	unknown	Het
Adam19	A	T	11: 46,136,322	D594V	probably damaging	Het
Adam34	C	T	8: 43,651,039	S523N	probably damaging	Het
Adam6b	G	T	12: 113,490,556	C331F	probably benign	Het
Adamts14	A	T	10: 61,271,050	V97E	probably damaging	Het
Adipor1	T	C	1: 134,428,140	Y226H	probably damaging	Het
Ankrd53	A	G	6: 83,763,710	D160G	possibly damaging	Het
Ap1m1	A	T	8: 72,249,762	Y94F	probably damaging	Het
Arhgef28	A	C	13: 97,942,475	D1314E	probably benign	Het
Bicc1	A	G	10: 71,027,942	I90T	probably benign	Het
Celf6	A	G	9: 59,578,550	D58G	probably damaging	Het
Cfap74	T	C	4: 155,464,597	S38P	unknown	Het
Cps1	A	G	1: 67,195,183	I910V	probably benign	Het
Crybg2	C	T	4: 134,089,309	Q1353*	probably null	Het
Cyp4f39	T	C	17: 32,487,008	Y358H	probably damaging	Het
Dcp1a	T	A	14: 30,519,175	I314N	probably damaging	Het
Dgki	A	C	6: 37,149,554	W164G	probably damaging	Het
Dnah8	A	G	17: 30,713,055	I1466V	probably benign	Het
Efcab6	T	A	15: 83,879,475	R1219W	probably damaging	Het
Faap24	A	T	7: 35,395,069	F102Y	probably damaging	Het
Fam186a	T	C	15: 99,940,363	T2667A	probably benign	Het
Frem1	C	T	4: 82,959,416	G1308D	probably damaging	Het
Hectd1	T	C	12: 51,769,264	T1347A	probably benign	Het
Hipk3	A	T	2: 104,437,031	H620Q	probably benign	Het
Hpd	A	G	5: 123,171,989	S391P	probably benign	Het
Ino80	A	G	2: 119,445,484	V437A	probably benign	Het
Itgax	G	T	7: 128,141,980	G785C	probably damaging	Het
Kcnk18	C	T	19: 59,234,834	T137I	probably damaging	Het
Kif16b	A	G	2: 142,700,669	F236L	probably benign	Het
Lamb1	T	C	12: 31,287,458	M396T	probably damaging	Het
Lrfn5	C	A	12: 61,839,754	N109K	probably damaging	Het
Lrrc15	T	A	16: 30,274,188	N111I	probably damaging	Het
Lrrk2	A	T	15: 91,787,048	I2011F	possibly damaging	Het
Lsr	A	G	7: 30,958,860	I336T	probably damaging	Het
Mettl21e	T	A	1: 44,211,191	R18S	probably benign	Het
Mrpl22	T	C	11: 58,177,221	L115P	probably damaging	Het
N4bp2	T	A	5: 65,790,692	S222T	probably benign	Het
Nat2	A	G	8: 67,501,870	T211A	probably benign	Het
Nbeal1	T	A	1: 60,311,088	I2432N	probably damaging	Het
Neb	A	G	2: 52,222,771	I1158T		Het
Nrip3	C	T	7: 109,763,586	E164K	probably damaging	Het
Obox6	G	A	7: 15,834,817	Q45*	probably null	Het
Ola1	T	C	2: 73,203,440	N44D	probably benign	Het
Olfr1167	A	T	2: 88,149,911	I36N	possibly damaging	Het
Olfr1375	C	T	11: 51,048,380	T91M	probably benign	Het
Olfr1386	T	C	11: 49,470,682	F177S	probably damaging	Het
Olfr1465	A	T	19: 13,313,736	M183K	probably damaging	Het
Olfr510	A	T	7: 108,668,309	N298Y	probably damaging	Het
Olfr522	A	G	7: 140,162,858	F31L	probably benign	Het
Olfr916	T	A	9: 38,657,619	M258L	probably benign	Het
Pde10a	A	G	17: 8,978,984	K753R		Het
Phldb1	T	C	9: 44,716,542	D202G	probably damaging	Het
Pik3cb	T	C	9: 99,073,736	N376S	probably benign	Het
Plekhh2	A	G	17: 84,566,702	N472D	probably damaging	Het
Ppp4r4	T	A	12: 103,601,552	F708Y	probably benign	Het
Rnf157	A	G	11: 116,412,750	V12A	probably benign	Het
Saa3	T	C	7: 46,715,070	I11V	probably benign	Het
Sall2	T	C	14: 52,313,425	E771G	probably damaging	Het
Sar1b	C	T	11: 51,779,746	T39I	probably damaging	Het
Scn10a	A	T	9: 119,616,803	L1428Q	possibly damaging	Het
Sema3f	A	G	9: 107,688,255	I213T	unknown	Het
Serpina3m	C	T	12: 104,393,826	Q386*	probably null	Het
Sh3gl3	G	A	7: 82,260,162	G26R	probably damaging	Het
Shq1	T	C	6: 100,573,672	E435G	probably damaging	Het
Sidt2	G	T	9: 45,953,197	A78E	probably benign	Het
Sin3b	A	G	8: 72,750,559	Y818C	probably damaging	Het
Smarca2	C	T	19: 26,679,098	L825F	possibly damaging	Het
Srgn	T	A	10: 62,495,105	M74L	probably benign	Het
Tbc1d22b	A	C	17: 29,594,773	D360A	possibly damaging	Het
Tbx4	A	G	11: 85,912,302	R335G	probably damaging	Het
Tmem144	T	C	3: 79,826,893	N168D	probably benign	Het
Trip11	G	A	12: 101,893,698	Q307*	probably null	Het
Ttyh2	T	C	11: 114,707,690	Y296H	probably damaging	Het
Vmn1r236	G	T	17: 21,286,781	V54F	probably benign	Het
Xrra1	A	C	7: 99,911,881	H443P	probably benign	Het
Zc3h12a	T	C	4: 125,121,059	T211A	probably damaging	Het
Zfp386	T	G	12: 116,059,710	D349E	probably benign	Het
Zkscan16	T	A	4: 58,956,577	H286Q	probably benign	Het
Znrf2	C	T	6: 54,884,803	P233L	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
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

Predicted Primers

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

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

Posted On

2022-09-12