Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00837:Alox12e'

8806

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL00837

Quality Score

Status

Chromosome

Chromosomal Location

70315610-70322628 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70321054 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 210 (T210A)

Ref Sequence

ENSEMBL: ENSMUSP00000019051 (fasta)

Gene Model

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

AlphaFold

P55249

Predicted Effect

probably benign
Transcript: ENSMUST00000019051
AA Change: T210A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000019051
Gene: ENSMUSG00000018907
AA Change: T210A

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcyap1r1	T	C	6: 55,461,620		probably benign	Het
Adig	T	A	2: 158,502,789	F16Y	possibly damaging	Het
Ankfy1	T	A	11: 72,755,898		probably benign	Het
Aoc1	T	A	6: 48,908,664	I701N	possibly damaging	Het
Armc1	A	C	3: 19,144,420	N125K	probably benign	Het
Bcl2a1c	A	T	9: 114,330,492	T113S	probably benign	Het
Cdh10	A	T	15: 19,013,404	I697L	probably benign	Het
Cep350	A	T	1: 155,953,391	S256T	probably damaging	Het
Chd6	T	C	2: 161,042,079	N82S	probably benign	Het
Gart	T	C	16: 91,638,720		probably benign	Het
Gtf3c6	A	G	10: 40,254,474		probably benign	Het
Igf1r	T	C	7: 68,201,352		probably benign	Het
Mtmr6	T	A	14: 60,280,217	Y92*	probably null	Het
Muc13	A	T	16: 33,807,959	K360*	probably null	Het
Nfyc	A	G	4: 120,781,547		probably benign	Het
Pole	T	A	5: 110,302,009	V774E	possibly damaging	Het
Rnf217	A	G	10: 31,503,774	L484P	probably damaging	Het
Slc18a2	A	T	19: 59,284,384	I373F	probably benign	Het
Slc5a9	A	G	4: 111,893,690		probably benign	Het
Tbc1d30	T	C	10: 121,296,845	I205V	probably damaging	Het
Tfap2d	A	T	1: 19,119,206	D270V	probably damaging	Het
Tmem63c	G	A	12: 87,077,197	S483N	probably benign	Het
Tor1aip1	T	A	1: 156,006,916		probably benign	Het
Tsga10	A	C	1: 37,801,911		probably benign	Het
Ttc21b	A	T	2: 66,235,571		probably null	Het
Wdr89	A	T	12: 75,633,051	L143*	probably null	Het

Other mutations in Alox12e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R9641:Alox12e	UTSW	11	70321435	missense	probably damaging	1.00

Posted On

2012-12-06