Mutagenetix > Incidental Mutation

Incidental Mutation 'R2068:Alox12e'

226862

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

040073-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2068 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70315610-70322628 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 70316002 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 620 (R620W)

Ref Sequence

ENSEMBL: ENSMUSP00000019051 (fasta)

Gene Model

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

AlphaFold

P55249

Predicted Effect

probably damaging
Transcript: ENSMUST00000019051
AA Change: R620W

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000019051
Gene: ENSMUSG00000018907
AA Change: R620W

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	T	C	11: 76,000,251	S64P	possibly damaging	Het
4933436I01Rik	T	A	X: 67,920,702	I184L	probably benign	Het
Abcb5	A	T	12: 118,940,568	C162*	probably null	Het
Akr1c19	A	T	13: 4,238,392		probably null	Het
Akt3	A	G	1: 177,102,985	S136P	possibly damaging	Het
Ascc2	A	T	11: 4,681,496	M646L	probably benign	Het
Bsn	T	G	9: 108,110,684		probably benign	Het
Bsn	T	A	9: 108,126,550	M219L	possibly damaging	Het
Btnl9	T	C	11: 49,169,563	T453A	probably damaging	Het
C6	G	T	15: 4,791,070	C521F	probably damaging	Het
Ccnt1	A	T	15: 98,551,942	H156Q	probably benign	Het
Cdh7	A	T	1: 110,137,936	R647*	probably null	Het
Clptm1l	C	T	13: 73,607,723	Q153*	probably null	Het
Cmya5	T	A	13: 93,090,524	K2685N	possibly damaging	Het
Cnksr2	A	C	X: 157,945,306	S224R	possibly damaging	Het
Cntn1	T	C	15: 92,318,062	V992A	possibly damaging	Het
Dapk1	G	A	13: 60,751,208	D831N	probably damaging	Het
Dnaaf3	T	C	7: 4,523,799	I426M	possibly damaging	Het
Dnah6	A	G	6: 73,021,182	Y4034H	probably benign	Het
Dtx2	C	T	5: 136,030,577	S493F	probably damaging	Het
Ehd1	T	C	19: 6,298,078	L362P	probably benign	Het
Endov	T	C	11: 119,499,582	F12S	probably damaging	Het
Eps8	A	T	6: 137,522,174	W239R	probably benign	Het
Fance	T	C	17: 28,320,825	F83S	possibly damaging	Het
Fn1	A	G	1: 71,600,439	V1731A	probably damaging	Het
Gak	G	T	5: 108,570,225	T1244K	probably benign	Het
Gas8	T	A	8: 123,526,537	I208N	probably damaging	Het
Gm9830	A	T	9: 44,464,282		noncoding transcript	Het
Gm9837	T	A	11: 53,470,265		probably benign	Het
Gtf2f2	A	G	14: 75,917,696	S142P	possibly damaging	Het
Hdac3	C	A	18: 37,943,516	G257V	probably damaging	Het
Heg1	A	G	16: 33,727,590	T916A	probably benign	Het
Herc2	G	T	7: 56,132,497	G1311C	probably damaging	Het
Htt	C	T	5: 34,825,982	T975I	probably benign	Het
Il2rg	A	G	X: 101,267,810	L57P	possibly damaging	Het
Itm2b	T	C	14: 73,363,135	K242E	probably damaging	Het
Itpr3	G	A	17: 27,098,076	M768I	probably benign	Het
Klrg2	G	A	6: 38,636,993	T25I	probably benign	Het
Lcn5	G	A	2: 25,658,041	V21M	probably damaging	Het
Lonp2	A	G	8: 86,665,775	T490A	probably damaging	Het
Lrrn3	A	T	12: 41,452,996	S441T	probably damaging	Het
Mpdz	G	A	4: 81,335,830	R1W	probably null	Het
Mpp4	G	A	1: 59,143,782	P322L	possibly damaging	Het
Mpzl2	G	A	9: 45,043,871		probably null	Het
Naf1	A	G	8: 66,887,780	D414G	probably damaging	Het
Notch3	A	G	17: 32,135,508	C1748R	probably benign	Het
Nup133	C	A	8: 123,914,575	D869Y	probably damaging	Het
Oasl2	A	C	5: 114,911,237	D466A	probably benign	Het
Olfr324	A	G	11: 58,597,570	N58S	probably damaging	Het
Olfr487	T	C	7: 108,212,340	Y63C	probably damaging	Het
Olfr705	T	A	7: 106,714,166	R172W	probably benign	Het
Olfr709-ps1	T	G	7: 106,926,955	Y168S	probably damaging	Het
Olfr970	T	C	9: 39,820,550	F304L	probably benign	Het
Opa3	T	C	7: 19,244,814	I68T	possibly damaging	Het
Pcdh8	A	T	14: 79,768,211	S912R	probably damaging	Het
Pdzrn3	T	C	6: 101,150,699	E1002G	probably damaging	Het
Pik3c2a	A	T	7: 116,372,891	L768*	probably null	Het
Plxna4	A	G	6: 32,517,616	S22P	possibly damaging	Het
Plxnb3	T	A	X: 73,771,751	Y1845*	probably null	Het
Pramef6	T	C	4: 143,896,912	M231V	probably damaging	Het
Prl7a2	T	A	13: 27,660,887	Y172F	probably damaging	Het
Pum1	A	G	4: 130,774,434	T845A	probably benign	Het
Rad21l	T	C	2: 151,668,007	H58R	probably damaging	Het
Rgma	A	C	7: 73,409,631	D161A	probably damaging	Het
Scai	T	C	2: 39,123,013	Y135C	probably damaging	Het
Scn2a	T	A	2: 65,752,073	H1588Q	probably benign	Het
Sdha	A	T	13: 74,323,968		probably null	Het
Slc12a3	A	G	8: 94,345,828	D658G	probably damaging	Het
Slc5a3	A	G	16: 92,077,240	S62G	probably damaging	Het
Spata13	GTTAGGCT	GT	14: 60,760,871		probably benign	Het
Sulf1	A	G	1: 12,840,403	I649V	probably damaging	Het
Thbs1	C	T	2: 118,123,537	Q1090*	probably null	Het
Tjp2	C	A	19: 24,122,323	R400L	probably benign	Het
Tle4	A	T	19: 14,449,749	Y769*	probably null	Het
Trmt5	A	T	12: 73,284,670		probably null	Het
Troap	T	C	15: 99,082,463	L508P	probably benign	Het
Ubac2	T	A	14: 121,908,279	Y116*	probably null	Het
Ugt2b36	T	C	5: 87,092,241	E95G	probably benign	Het
Ush1c	T	C	7: 46,229,481	Y74C	probably damaging	Het
Usp36	T	C	11: 118,275,018	T160A	possibly damaging	Het
Usp54	G	T	14: 20,577,205	P462T	probably damaging	Het
Vmn1r55	A	G	7: 5,147,049	V125A	possibly damaging	Het
Vps11	A	G	9: 44,358,316	S213P	probably damaging	Het
Zfp668	C	T	7: 127,866,665	G449D	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
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
R9641:Alox12e	UTSW	11	70321435	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGCTGTCTATTCACCAGAGGG -3'
(R):5'- GTCATGGTGAGGCACAGATG -3'

Sequencing Primer
(F):5'- AGGACAAGACTGTGCACAC -3'
(R):5'- CAGATGCCTGGGTCCTGACTTG -3'

Posted On

2014-09-17