Mutagenetix > Incidental Mutation

Incidental Mutation 'R4870:Alox8'

376514

Institutional Source

Beutler Lab

Gene Symbol

Alox8

Ensembl Gene

ENSMUSG00000020891

Gene Name

arachidonate 8-lipoxygenase

Synonyms

8S-LOX, 8S-lipoxygenase, 8-LOX, Alox15b

MMRRC Submission

042480-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R4870 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69074758-69088669 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69077394 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 423 (Y423C)

Ref Sequence

ENSEMBL: ENSMUSP00000091621 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021262] [ENSMUST00000094078]

AlphaFold

O35936

Predicted Effect

probably damaging
Transcript: ENSMUST00000021262
AA Change: Y452C

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

SMART Domains

Protein: ENSMUSP00000021262
Gene: ENSMUSG00000020891
AA Change: Y452C

Domain	Start	End	E-Value	Type
LH2	2	122	1.07e-36	SMART
Pfam:Lipoxygenase	163	662	5.5e-70	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000094078
AA Change: Y423C

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

SMART Domains

Protein: ENSMUSP00000091621
Gene: ENSMUSG00000020891
AA Change: Y423C

Domain	Start	End	E-Value	Type
LH2	2	122	1.07e-36	SMART
Pfam:Lipoxygenase	205	405	6.9e-44	PFAM
Pfam:Lipoxygenase	402	640	1.9e-60	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144787

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156157

Meta Mutation Damage Score

0.8910

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

100% (77/77)

MGI Phenotype

FUNCTION: This gene belongs to the lipoxygenase (LOX) gene family whose members encode enzymes that catalyze the addition of molecular oxygen to polyunsaturated fatty acids (PUFAs) to yield fatty acid hydroperoxides. The encoded enzyme preferentially metabolizes arachidonic acid to yield 8-hydroxyeicosatetraenoic acid (8-HETE), while metabolizing linoleic acid less efficiently. The gene may also function as a tumor suppressor. This gene is located in a cluster of related genes that spans approximately 75 kilobases on chromosome 11. [provided by RefSeq, Jan 2013]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,069,540 (GRCm39)	I1285N	probably damaging	Het
Abcc8	G	A	7: 45,756,683 (GRCm39)	R721*	probably null	Het
Ankle2	T	A	5: 110,399,344 (GRCm39)		probably null	Het
Cdc14a	A	G	3: 116,217,109 (GRCm39)	I9T	probably benign	Het
Ceacam18	T	C	7: 43,291,328 (GRCm39)	C257R	probably damaging	Het
Cilp	T	C	9: 65,186,980 (GRCm39)	V1025A	probably damaging	Het
Clcn7	G	T	17: 25,372,539 (GRCm39)		probably benign	Het
Csnk1d	A	T	11: 120,874,014 (GRCm39)		probably benign	Het
Cyp11b2	A	G	15: 74,724,995 (GRCm39)	S285P	probably benign	Het
Dip2b	T	A	15: 100,093,665 (GRCm39)		probably null	Het
Dmrt1	T	A	19: 25,483,219 (GRCm39)	M1K	probably null	Het
Dnajc14	T	C	10: 128,653,219 (GRCm39)	V684A	probably benign	Het
Dnmt3b	A	G	2: 153,512,284 (GRCm39)	Q335R	probably benign	Het
Exoc3l2	T	A	7: 19,229,117 (GRCm39)	C772S	unknown	Het
F2rl1	A	T	13: 95,650,492 (GRCm39)	F130Y	probably damaging	Het
Galk2	C	G	2: 125,771,557 (GRCm39)	S194*	probably null	Het
Garre1	C	A	7: 33,984,312 (GRCm39)	V104L	possibly damaging	Het
Gpbp1l1	A	G	4: 116,430,714 (GRCm39)	T62A	probably benign	Het
H2-Q10	A	T	17: 35,781,357 (GRCm39)	D53V	probably damaging	Het
H2-T22	T	C	17: 36,349,924 (GRCm39)	K356R	probably benign	Het
Insrr	G	A	3: 87,718,911 (GRCm39)	V956M	probably damaging	Het
Ints7	A	G	1: 191,328,443 (GRCm39)	T239A	probably damaging	Het
Isl1	A	G	13: 116,444,806 (GRCm39)		probably benign	Het
Kcng2	A	G	18: 80,366,083 (GRCm39)	C90R	probably benign	Het
Kif3c	C	T	12: 3,451,735 (GRCm39)	P171S	probably damaging	Het
Knl1	A	G	2: 118,911,994 (GRCm39)	T1704A	probably benign	Het
Lats1	A	G	10: 7,581,549 (GRCm39)	Y778C	probably damaging	Het
Limd2	T	C	11: 106,050,215 (GRCm39)	M1V	probably null	Het
Mcm10	A	T	2: 5,008,970 (GRCm39)	I333N	probably damaging	Het
Mipep	T	A	14: 61,040,329 (GRCm39)	L283*	probably null	Het
Mixl1	A	G	1: 180,522,237 (GRCm39)	S215P	probably benign	Het
Mmp21	A	G	7: 133,280,406 (GRCm39)	L188P	probably damaging	Het
Mob1a	T	C	6: 83,317,221 (GRCm39)	S213P	probably benign	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Ndufaf6	T	C	4: 11,060,917 (GRCm39)	T220A	probably benign	Het
Nr4a3	A	T	4: 48,051,651 (GRCm39)	Y135F	possibly damaging	Het
Ntn1	CCTTCTTCT	CCTTCT	11: 68,103,852 (GRCm39)		probably benign	Het
Obscn	A	T	11: 59,027,032 (GRCm39)	L57Q	probably damaging	Het
Or52e19b	T	A	7: 103,032,840 (GRCm39)	D123V	probably damaging	Het
Or5d35	T	C	2: 87,855,804 (GRCm39)	L246P	probably damaging	Het
Pirb	T	A	7: 3,715,661 (GRCm39)	M839L	probably benign	Het
Plcl2	A	G	17: 50,914,254 (GRCm39)	E421G	possibly damaging	Het
Ppp1r12b	T	C	1: 134,876,771 (GRCm39)	N99S	probably benign	Het
Ptpro	A	G	6: 137,354,130 (GRCm39)	K169E	probably damaging	Het
Rita1	T	A	5: 120,749,448 (GRCm39)	K88N	probably damaging	Het
Rptn	A	T	3: 93,303,776 (GRCm39)	K370*	probably null	Het
Simc1	A	G	13: 54,687,576 (GRCm39)	D115G	probably null	Het
Stab1	T	A	14: 30,864,000 (GRCm39)	N136I	probably benign	Het
Syt4	T	A	18: 31,580,409 (GRCm39)		probably benign	Het
Sytl2	A	T	7: 90,038,106 (GRCm39)	N522I	probably damaging	Het
Tax1bp1	A	G	6: 52,706,478 (GRCm39)		probably benign	Het
Tenm2	A	T	11: 35,969,396 (GRCm39)	D847E	probably damaging	Het
Th	G	T	7: 142,447,834 (GRCm39)	D321E	probably benign	Het
Tmem44	A	T	16: 30,359,591 (GRCm39)	L46Q	probably damaging	Het
Trp53bp1	A	G	2: 121,087,122 (GRCm39)	L178P	probably damaging	Het
Trp63	A	G	16: 25,684,968 (GRCm39)	*285W	probably null	Het
Tsen34	T	C	7: 3,697,380 (GRCm39)		probably benign	Het
Tssk4	C	T	14: 55,889,272 (GRCm39)	T256I	probably benign	Het
Ttc17	A	T	2: 94,196,954 (GRCm39)	N464K	probably damaging	Het
Ttll2	C	T	17: 7,618,998 (GRCm39)	V310I	probably benign	Het
Ubn1	A	G	16: 4,895,177 (GRCm39)	E741G	probably damaging	Het
Urad	T	A	5: 147,252,264 (GRCm39)	I63F	probably damaging	Het
Vcan	T	C	13: 89,852,858 (GRCm39)	T701A	probably benign	Het
Vmn2r58	A	G	7: 41,486,639 (GRCm39)	V752A	possibly damaging	Het
Vmn2r69	C	A	7: 85,060,793 (GRCm39)	V264L	possibly damaging	Het
Zfp292	A	G	4: 34,808,917 (GRCm39)	S1376P	probably damaging	Het
Zfp955a	G	A	17: 33,460,699 (GRCm39)	R478*	probably null	Het
Znfx1	A	C	2: 166,897,189 (GRCm39)	F578L	probably benign	Het

Other mutations in Alox8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01411:Alox8	APN	11	69,079,516 (GRCm39)	missense	probably benign
IGL01878:Alox8	APN	11	69,087,864 (GRCm39)	missense	probably benign	0.00
IGL02342:Alox8	APN	11	69,077,053 (GRCm39)	missense	probably damaging	1.00
IGL02694:Alox8	APN	11	69,077,455 (GRCm39)	missense	probably damaging	0.99
IGL03246:Alox8	APN	11	69,076,841 (GRCm39)	missense	probably damaging	1.00
IGL03373:Alox8	APN	11	69,077,443 (GRCm39)	missense	probably benign	0.00
R0567:Alox8	UTSW	11	69,082,348 (GRCm39)	critical splice donor site	probably null
R1575:Alox8	UTSW	11	69,076,067 (GRCm39)	missense	possibly damaging	0.94
R1688:Alox8	UTSW	11	69,080,732 (GRCm39)	missense	probably benign	0.01
R2021:Alox8	UTSW	11	69,077,114 (GRCm39)	missense	probably damaging	0.98
R2041:Alox8	UTSW	11	69,088,517 (GRCm39)	missense	possibly damaging	0.67
R2175:Alox8	UTSW	11	69,078,592 (GRCm39)	missense	possibly damaging	0.85
R2237:Alox8	UTSW	11	69,076,597 (GRCm39)	missense	probably benign	0.00
R3821:Alox8	UTSW	11	69,077,308 (GRCm39)	missense	probably damaging	0.98
R6836:Alox8	UTSW	11	69,080,715 (GRCm39)	missense	possibly damaging	0.82
R6836:Alox8	UTSW	11	69,077,331 (GRCm39)	missense	probably damaging	1.00
R7003:Alox8	UTSW	11	69,082,416 (GRCm39)	missense	possibly damaging	0.70
R7158:Alox8	UTSW	11	69,076,696 (GRCm39)	missense	probably benign	0.00
R7316:Alox8	UTSW	11	69,077,064 (GRCm39)	missense	probably benign	0.01
R7513:Alox8	UTSW	11	69,078,670 (GRCm39)	missense	probably benign	0.34
R9515:Alox8	UTSW	11	69,075,950 (GRCm39)	missense	probably damaging	1.00
R9721:Alox8	UTSW	11	69,087,911 (GRCm39)	missense	probably benign	0.19
X0065:Alox8	UTSW	11	69,076,079 (GRCm39)	missense	probably damaging	1.00
Z1177:Alox8	UTSW	11	69,076,047 (GRCm39)	missense	probably damaging	1.00
Z1186:Alox8	UTSW	11	69,088,322 (GRCm39)	missense	probably benign
Z1186:Alox8	UTSW	11	69,076,873 (GRCm39)	missense	probably benign	0.00
Z1187:Alox8	UTSW	11	69,088,322 (GRCm39)	missense	probably benign
Z1187:Alox8	UTSW	11	69,076,873 (GRCm39)	missense	probably benign	0.00
Z1188:Alox8	UTSW	11	69,088,322 (GRCm39)	missense	probably benign
Z1188:Alox8	UTSW	11	69,076,873 (GRCm39)	missense	probably benign	0.00
Z1189:Alox8	UTSW	11	69,088,322 (GRCm39)	missense	probably benign
Z1189:Alox8	UTSW	11	69,076,873 (GRCm39)	missense	probably benign	0.00
Z1190:Alox8	UTSW	11	69,088,322 (GRCm39)	missense	probably benign
Z1190:Alox8	UTSW	11	69,076,873 (GRCm39)	missense	probably benign	0.00
Z1191:Alox8	UTSW	11	69,088,322 (GRCm39)	missense	probably benign
Z1191:Alox8	UTSW	11	69,076,873 (GRCm39)	missense	probably benign	0.00
Z1192:Alox8	UTSW	11	69,088,322 (GRCm39)	missense	probably benign
Z1192:Alox8	UTSW	11	69,076,873 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCTCTCTGAGAAGCACCATTGTC -3'
(R):5'- TAGACAAGGTAGGAGCTGCC -3'

Sequencing Primer
(F):5'- AAGCACCATTGTCCAGGG -3'
(R):5'- AGCTGCCTTTGGAGGGG -3'

Posted On

2016-03-17