Mutagenetix > Incidental Mutation

Incidental Mutation 'R7175:Alox12e'

558562

Institutional Source

Beutler Lab

Gene Symbol

Alox12e

Ensembl Gene

ENSMUSG00000018907

Gene Name

arachidonate lipoxygenase, epidermal

Synonyms

8-LOX, Aloxe, Alox12-ps2, e-LOX1, Alox12-ps1

MMRRC Submission

045231-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7175 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70206436-70213454 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70210534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 363 (R363G)

Ref Sequence

ENSEMBL: ENSMUSP00000019051 (fasta)

Gene Model

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

AlphaFold

P55249

Predicted Effect

probably damaging
Transcript: ENSMUST00000019051
AA Change: R363G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000019051
Gene: ENSMUSG00000018907
AA Change: R363G

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

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	G	A	12: 118,831,611 (GRCm39)	T1247I	probably benign	Het
Afdn	T	C	17: 14,108,869 (GRCm39)	L1479P	probably damaging	Het
Ank2	A	T	3: 126,740,590 (GRCm39)	S1765T	unknown	Het
Anks6	T	C	4: 47,046,268 (GRCm39)		probably null	Het
Apob	A	C	12: 8,057,034 (GRCm39)	I1839L	probably benign	Het
Bdp1	C	A	13: 100,186,478 (GRCm39)	R1658I	probably damaging	Het
Ccs	T	A	19: 4,883,390 (GRCm39)	D136V	probably damaging	Het
Cd200	T	C	16: 45,220,578 (GRCm39)		probably null	Het
Cirbp	T	C	10: 80,006,297 (GRCm39)	S130P	probably benign	Het
Cpb1	A	G	3: 20,317,927 (GRCm39)	I199T	probably benign	Het
Csn3	C	T	5: 88,077,586 (GRCm39)	R31C	probably damaging	Het
Dcaf1	A	T	9: 106,735,775 (GRCm39)	I908F	probably benign	Het
Dhcr7	C	T	7: 143,399,227 (GRCm39)	T199I	probably damaging	Het
Dnah9	T	A	11: 66,024,463 (GRCm39)	Q277L	probably benign	Het
Echdc2	C	A	4: 108,031,366 (GRCm39)	P237T	probably damaging	Het
Efcab3	T	C	11: 104,838,237 (GRCm39)	V3625A	unknown	Het
Eif4g3	A	G	4: 137,853,526 (GRCm39)	N364S	probably damaging	Het
Eml6	T	A	11: 29,734,231 (GRCm39)	I1170L	probably benign	Het
Epha3	C	T	16: 63,403,863 (GRCm39)	R746Q	probably damaging	Het
Exosc5	G	A	7: 25,363,794 (GRCm39)	C102Y	probably damaging	Het
Fam91a1	A	T	15: 58,302,527 (GRCm39)	Y289F	probably benign	Het
Fbxo38	A	C	18: 62,648,544 (GRCm39)	F665V	probably benign	Het
Fcrl5	T	C	3: 87,353,645 (GRCm39)	V330A	probably benign	Het
Fer	T	A	17: 64,231,090 (GRCm39)	D280E	probably benign	Het
Gpr158	A	G	2: 21,373,113 (GRCm39)	H16R	probably benign	Het
Gzmg	C	T	14: 56,396,979 (GRCm39)	M1I	probably null	Het
Hectd4	C	T	5: 121,411,692 (GRCm39)	A456V	possibly damaging	Het
Hk2	T	A	6: 82,711,830 (GRCm39)	Q613L	probably benign	Het
Inhca	A	G	9: 103,128,988 (GRCm39)		probably null	Het
Itsn1	T	C	16: 91,664,938 (GRCm39)	F1121L	unknown	Het
Lztr1	G	T	16: 17,340,895 (GRCm39)	C557F	possibly damaging	Het
Mdn1	A	G	4: 32,694,634 (GRCm39)	Y1119C	probably damaging	Het
Nfkb1	A	T	3: 135,319,751 (GRCm39)	L248Q	probably damaging	Het
Or1a1	T	A	11: 74,087,004 (GRCm39)	L225*	probably null	Het
Or1p1b	T	C	11: 74,130,803 (GRCm39)	F138L	probably benign	Het
Or2g7	T	A	17: 38,378,370 (GRCm39)	S103T	probably damaging	Het
Or52e19	T	C	7: 102,959,054 (GRCm39)	V42A	probably benign	Het
Otulinl	A	C	15: 27,658,374 (GRCm39)	D165E	probably damaging	Het
Pate1	T	G	9: 35,596,408 (GRCm39)	D119A	probably damaging	Het
Pcdhgc4	T	C	18: 37,949,424 (GRCm39)	V280A	possibly damaging	Het
Pik3ap1	T	C	19: 41,275,929 (GRCm39)	D717G	probably damaging	Het
Prdm13	A	T	4: 21,679,473 (GRCm39)	L339Q	unknown	Het
Rasgrf1	T	A	9: 89,862,802 (GRCm39)	N519K	probably benign	Het
Rergl	A	G	6: 139,473,533 (GRCm39)	V39A	probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Sema4b	T	A	7: 79,848,402 (GRCm39)	M1K	probably null	Het
Slc20a1	T	G	2: 129,052,662 (GRCm39)	L648R	probably damaging	Het
Spata31h1	T	A	10: 82,122,583 (GRCm39)	S3476C	probably damaging	Het
Speg	A	G	1: 75,399,134 (GRCm39)	T2194A	probably benign	Het
Spns1	T	C	7: 125,972,961 (GRCm39)	D215G	probably damaging	Het
Tle4	A	T	19: 14,429,071 (GRCm39)	V717E	probably damaging	Het
Trim50	T	A	5: 135,382,151 (GRCm39)	M1K	probably null	Het
Trpa1	A	G	1: 14,963,431 (GRCm39)	V597A	possibly damaging	Het
Usp13	C	T	3: 32,971,757 (GRCm39)	Q746*	probably null	Het
Vmn1r35	A	T	6: 66,655,906 (GRCm39)	W255R	probably benign	Het
Vps35	A	T	8: 85,990,189 (GRCm39)		probably null	Het
Vps54	T	C	11: 21,265,028 (GRCm39)		probably null	Het
Zfp318	T	A	17: 46,697,774 (GRCm39)	L210Q	probably damaging	Het
Zfp319	C	A	8: 96,055,410 (GRCm39)	K264N	probably damaging	Het
Zfp62	C	T	11: 49,107,580 (GRCm39)	S557L	probably damaging	Het
Zgrf1	T	C	3: 127,357,239 (GRCm39)	S822P	probably damaging	Het
Zxdc	A	G	6: 90,346,645 (GRCm39)	D2G	possibly damaging	Het
Zzef1	T	C	11: 72,742,727 (GRCm39)	I769T	possibly damaging	Het

Other mutations in Alox12e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00837:Alox12e	APN	11	70,211,880 (GRCm39)	missense	probably benign
IGL01781:Alox12e	APN	11	70,212,282 (GRCm39)	missense	probably damaging	1.00
R0284:Alox12e	UTSW	11	70,211,725 (GRCm39)	splice site	probably benign
R0417:Alox12e	UTSW	11	70,212,691 (GRCm39)	missense	probably benign	0.12
R0557:Alox12e	UTSW	11	70,212,274 (GRCm39)	missense	possibly damaging	0.80
R0593:Alox12e	UTSW	11	70,211,723 (GRCm39)	splice site	probably benign
R1479:Alox12e	UTSW	11	70,211,608 (GRCm39)	missense	probably benign	0.04
R1967:Alox12e	UTSW	11	70,208,682 (GRCm39)	missense	probably benign	0.18
R1996:Alox12e	UTSW	11	70,207,034 (GRCm39)	missense	probably benign	0.00
R2062:Alox12e	UTSW	11	70,206,828 (GRCm39)	missense	probably damaging	1.00
R2063:Alox12e	UTSW	11	70,206,828 (GRCm39)	missense	probably damaging	1.00
R2067:Alox12e	UTSW	11	70,206,828 (GRCm39)	missense	probably damaging	1.00
R2068:Alox12e	UTSW	11	70,206,828 (GRCm39)	missense	probably damaging	1.00
R2147:Alox12e	UTSW	11	70,210,771 (GRCm39)	missense	probably damaging	1.00
R2307:Alox12e	UTSW	11	70,212,087 (GRCm39)	missense	probably damaging	1.00
R3034:Alox12e	UTSW	11	70,207,079 (GRCm39)	missense	probably benign	0.01
R3739:Alox12e	UTSW	11	70,210,668 (GRCm39)	missense	probably damaging	1.00
R4463:Alox12e	UTSW	11	70,209,082 (GRCm39)	missense	probably damaging	1.00
R4572:Alox12e	UTSW	11	70,212,007 (GRCm39)	intron	probably benign
R5004:Alox12e	UTSW	11	70,212,330 (GRCm39)	missense	probably benign	0.00
R5113:Alox12e	UTSW	11	70,206,821 (GRCm39)	missense	possibly damaging	0.70
R5155:Alox12e	UTSW	11	70,207,081 (GRCm39)	missense	possibly damaging	0.61
R5464:Alox12e	UTSW	11	70,208,505 (GRCm39)	missense	probably damaging	0.99
R5471:Alox12e	UTSW	11	70,210,850 (GRCm39)	missense	probably benign	0.17
R5501:Alox12e	UTSW	11	70,207,055 (GRCm39)	missense	probably benign	0.01
R5915:Alox12e	UTSW	11	70,209,050 (GRCm39)	missense	possibly damaging	0.81
R6033:Alox12e	UTSW	11	70,206,839 (GRCm39)	missense	probably benign	0.03
R6033:Alox12e	UTSW	11	70,206,839 (GRCm39)	missense	probably benign	0.03
R6102:Alox12e	UTSW	11	70,210,849 (GRCm39)	missense	possibly damaging	0.65
R6380:Alox12e	UTSW	11	70,211,927 (GRCm39)	missense	probably benign	0.00
R6452:Alox12e	UTSW	11	70,210,831 (GRCm39)	missense	probably damaging	0.96
R7220:Alox12e	UTSW	11	70,206,731 (GRCm39)	missense	probably benign	0.02
R7353:Alox12e	UTSW	11	70,212,261 (GRCm39)	missense	probably damaging	1.00
R7542:Alox12e	UTSW	11	70,212,582 (GRCm39)	missense	possibly damaging	0.69
R7916:Alox12e	UTSW	11	70,212,111 (GRCm39)	missense	probably benign
R8314:Alox12e	UTSW	11	70,206,998 (GRCm39)	missense	possibly damaging	0.83
R8331:Alox12e	UTSW	11	70,211,923 (GRCm39)	missense	probably benign	0.01
R9027:Alox12e	UTSW	11	70,212,600 (GRCm39)	missense	possibly damaging	0.68
R9380:Alox12e	UTSW	11	70,206,994 (GRCm39)	critical splice donor site	probably null
R9641:Alox12e	UTSW	11	70,212,261 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTTTGCCTTATATGCCAAGAG -3'
(R):5'- CGAGGAACCACGAATCTTTCC -3'

Sequencing Primer
(F):5'- CCAAGAGCAGATCCCGAGTG -3'
(R):5'- TAACACCGACCCTCGTTAGG -3'

Posted On

2019-06-26