Mutagenetix > Incidental Mutation

Incidental Mutation 'R1688:Alox8'

189508

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

039721-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R1688 (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 69080732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 203 (D203G)

Ref Sequence

ENSEMBL: ENSMUSP00000091621 (fasta)

Gene Model

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

AlphaFold

O35936

Predicted Effect

probably benign
Transcript: ENSMUST00000021262
AA Change: D203G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000021262
Gene: ENSMUSG00000020891
AA Change: D203G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000094078
AA Change: D203G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000091621
Gene: ENSMUSG00000020891
AA Change: D203G

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

0.1579

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (71/71)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	C	13: 61,002,695 (GRCm39)	T20A	probably benign	Het
Acaca	T	G	11: 84,129,722 (GRCm39)	V359G	probably damaging	Het
Adgb	G	A	10: 10,226,061 (GRCm39)	R1359*	probably null	Het
Aggf1	T	C	13: 95,501,275 (GRCm39)	E369G	probably damaging	Het
Alkbh8	T	A	9: 3,382,765 (GRCm39)	D418E	probably damaging	Het
Ank	A	G	15: 27,557,320 (GRCm39)	D168G	probably damaging	Het
Ap5m1	A	G	14: 49,318,291 (GRCm39)		probably null	Het
Arhgap45	A	G	10: 79,864,929 (GRCm39)	Y964C	probably damaging	Het
Arhgef2	A	G	3: 88,547,607 (GRCm39)	D571G	probably benign	Het
Bdh2	A	T	3: 135,007,399 (GRCm39)	Y223F	possibly damaging	Het
Bin1	T	C	18: 32,552,988 (GRCm39)		probably benign	Het
Bin1	G	A	18: 32,558,025 (GRCm39)		probably benign	Het
Cacna1g	T	A	11: 94,316,779 (GRCm39)	M1514L	possibly damaging	Het
Cd109	T	A	9: 78,612,373 (GRCm39)	F1253L	probably benign	Het
Cfap57	T	A	4: 118,426,843 (GRCm39)	E1065V	probably null	Het
Chmp2b	T	C	16: 65,347,922 (GRCm39)	N14S	probably benign	Het
Cplane1	T	C	15: 8,258,093 (GRCm39)	V2113A	probably benign	Het
Crybg1	A	T	10: 43,849,794 (GRCm39)	F1660L	probably damaging	Het
Cyp2c37	T	G	19: 39,982,887 (GRCm39)		probably null	Het
Daam1	A	T	12: 71,993,820 (GRCm39)	I408F	unknown	Het
Dsc3	T	A	18: 20,099,284 (GRCm39)	D744V	probably damaging	Het
Eprs1	T	C	1: 185,117,093 (GRCm39)	F379L	probably damaging	Het
Ewsr1	G	T	11: 5,022,870 (GRCm39)	D417E	unknown	Het
Eya4	A	T	10: 22,999,759 (GRCm39)	N424K	probably damaging	Het
Gm9312	A	C	12: 24,301,920 (GRCm39)		noncoding transcript	Het
Havcr2	T	C	11: 46,370,191 (GRCm39)	I206T	probably damaging	Het
Igfbp2	T	C	1: 72,864,125 (GRCm39)		probably null	Het
Ikzf2	T	C	1: 69,581,439 (GRCm39)	K196R	possibly damaging	Het
Il12rb1	G	A	8: 71,272,046 (GRCm39)	G587R	probably damaging	Het
Immt	A	T	6: 71,833,995 (GRCm39)	H208L	probably damaging	Het
Kcnq2	C	T	2: 180,728,826 (GRCm39)	V540I	probably damaging	Het
Klk1b8	T	A	7: 43,595,229 (GRCm39)		probably benign	Het
Mc2r	T	A	18: 68,541,090 (GRCm39)	I68F	possibly damaging	Het
Neil3	T	C	8: 54,054,069 (GRCm39)	E320G	probably damaging	Het
Nell2	T	C	15: 95,329,494 (GRCm39)	T276A	probably damaging	Het
Nphp3	T	C	9: 103,880,323 (GRCm39)	L115P	probably damaging	Het
Nras	T	C	3: 102,967,689 (GRCm39)	L95P	probably benign	Het
Ogt	G	A	X: 100,699,296 (GRCm39)	V190I	probably damaging	Het
Or11h6	A	T	14: 50,880,705 (GRCm39)	K322N	probably benign	Het
Or5t17	A	G	2: 86,832,730 (GRCm39)	Y139C	probably benign	Het
P2ry6	T	A	7: 100,587,591 (GRCm39)	H256L	probably damaging	Het
Pcbp4	T	C	9: 106,338,533 (GRCm39)	S153P	probably damaging	Het
Pclo	T	C	5: 14,838,507 (GRCm39)		probably null	Het
Per2	A	G	1: 91,351,551 (GRCm39)	L985P	probably damaging	Het
Pgap6	C	T	17: 26,337,882 (GRCm39)	A422V	possibly damaging	Het
Phip	T	C	9: 82,753,710 (GRCm39)	N1678S	probably benign	Het
Pkd1l3	A	G	8: 110,350,450 (GRCm39)	S432G	probably benign	Het
Plin4	T	A	17: 56,416,363 (GRCm39)	D47V	possibly damaging	Het
Ppp2cb	A	G	8: 34,105,480 (GRCm39)	I163M	probably benign	Het
Ptpdc1	T	C	13: 48,739,700 (GRCm39)	E577G	probably benign	Het
Ptprd	G	T	4: 75,900,921 (GRCm39)	P1063T	probably damaging	Het
Ptpru	T	C	4: 131,514,656 (GRCm39)	D866G	probably benign	Het
Rdx	T	C	9: 51,972,211 (GRCm39)		probably benign	Het
Rgsl1	C	T	1: 153,680,422 (GRCm39)	R760H	probably damaging	Het
Rhno1	A	G	6: 128,334,897 (GRCm39)	V142A	probably benign	Het
Sema5a	C	T	15: 32,669,570 (GRCm39)	T698I	probably benign	Het
Serpina3a	A	T	12: 104,084,902 (GRCm39)	D99V	probably benign	Het
Slc22a3	A	T	17: 12,652,694 (GRCm39)	M350K	probably damaging	Het
Spata31d1b	T	A	13: 59,863,274 (GRCm39)	S141T	possibly damaging	Het
Tada2a	T	C	11: 83,975,585 (GRCm39)		probably null	Het
Tspan10	A	G	11: 120,333,608 (GRCm39)	M2V	probably damaging	Het
Ttll11	T	C	2: 35,685,391 (GRCm39)	T566A	probably damaging	Het
Vwa8	A	G	14: 79,438,543 (GRCm39)	Q1872R	possibly damaging	Het
Zfp605	T	A	5: 110,276,907 (GRCm39)	I675N	possibly damaging	Het
Zkscan8	A	T	13: 21,704,324 (GRCm39)	N538K	possibly damaging	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
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
R4870:Alox8	UTSW	11	69,077,394 (GRCm39)	missense	probably damaging	1.00
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'- CATGGAGCCCAGCTAAAGTCACAAG -3'
(R):5'- GTGAAGATGCCTCCCTGTCCATTG -3'

Sequencing Primer
(F):5'- AGTCACAAGGTGAATTGTTGCTC -3'
(R):5'- ACCTTACTTACATGGTTCACTCAG -3'

Posted On

2014-05-14