Mutagenetix > Incidental Mutation

Incidental Mutation 'R1575:Alox8'

171116

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

039613-MU

Accession Numbers

Essential gene?

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

Stock #

R1575 (G1)

Quality Score

108

Status

Validated

Chromosome

Chromosomal Location

69074758-69088669 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69076067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 628 (H628L)

Ref Sequence

ENSEMBL: ENSMUSP00000021262 (fasta)

Gene Model

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

AlphaFold

O35936

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021262
AA Change: H628L

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000021262
Gene: ENSMUSG00000020891
AA Change: H628L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094078
AA Change: H599L

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000091621
Gene: ENSMUSG00000020891
AA Change: H599L

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

Meta Mutation Damage Score

0.7100

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

100% (72/72)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	A	3: 148,558,398 (GRCm39)	T437S	probably benign	Het
Akna	A	G	4: 63,297,570 (GRCm39)	F828S	probably benign	Het
Alg9	G	T	9: 50,686,802 (GRCm39)	A40S	possibly damaging	Het
Aox3	T	C	1: 58,191,713 (GRCm39)	W422R	probably benign	Het
Atp13a4	T	C	16: 29,228,528 (GRCm39)	D984G	probably benign	Het
Bcam	T	C	7: 19,494,307 (GRCm39)	E363G	possibly damaging	Het
Cadps2	C	A	6: 23,429,217 (GRCm39)	V519F	probably damaging	Het
Calca	A	G	7: 114,234,396 (GRCm39)	Y18H	probably damaging	Het
Cd70	A	G	17: 57,453,364 (GRCm39)	I100T	probably damaging	Het
Cdk4	T	A	10: 126,900,520 (GRCm39)	H95Q	probably damaging	Het
Chchd1	T	A	14: 20,753,410 (GRCm39)	N11K	probably damaging	Het
Cma2	T	A	14: 56,210,272 (GRCm39)	N52K	probably damaging	Het
Cyp3a16	A	G	5: 145,373,267 (GRCm39)	V500A	probably benign	Het
Dicer1	A	G	12: 104,688,228 (GRCm39)		probably null	Het
Dnajc13	A	G	9: 104,034,037 (GRCm39)	S2206P	probably benign	Het
Dtl	T	C	1: 191,293,658 (GRCm39)		probably null	Het
Fam186b	T	C	15: 99,184,852 (GRCm39)	T24A	probably benign	Het
Fbxw21	A	G	9: 108,990,984 (GRCm39)	V25A	probably benign	Het
Gins1	T	C	2: 150,754,758 (GRCm39)	S45P	probably benign	Het
Gtpbp2	T	A	17: 46,476,869 (GRCm39)	V349D	probably damaging	Het
Hyal5	G	T	6: 24,876,792 (GRCm39)	D222Y	probably damaging	Het
Itgal	A	G	7: 126,900,060 (GRCm39)		probably null	Het
Klk14	A	G	7: 43,343,377 (GRCm39)		probably null	Het
Lama1	T	A	17: 68,117,404 (GRCm39)	L2518Q	possibly damaging	Het
Lrrc2	G	A	9: 110,808,555 (GRCm39)	G264D	probably benign	Het
Ltbp4	A	G	7: 27,022,245 (GRCm39)	S893P	probably damaging	Het
Mast4	G	A	13: 102,875,771 (GRCm39)	P1107L	probably damaging	Het
Mbd1	T	A	18: 74,408,490 (GRCm39)		probably null	Het
Naip2	A	T	13: 100,291,529 (GRCm39)	D1136E	probably benign	Het
Naip2	G	A	13: 100,291,537 (GRCm39)		probably benign	Het
Ncan	G	A	8: 70,562,848 (GRCm39)	T470I	probably benign	Het
Npy1r	A	T	8: 67,156,813 (GRCm39)	I78F	probably damaging	Het
Or10q1b	A	T	19: 13,682,889 (GRCm39)	M233L	probably benign	Het
Or8b52	G	A	9: 38,576,573 (GRCm39)	T189M	probably damaging	Het
Palb2	A	T	7: 121,710,061 (GRCm39)		probably null	Het
Pax3	T	C	1: 78,080,121 (GRCm39)	T422A	probably benign	Het
Pebp1	A	T	5: 117,424,229 (GRCm39)	D72E	possibly damaging	Het
Pnliprp1	A	T	19: 58,728,901 (GRCm39)	T363S	probably benign	Het
Rbm44	G	A	1: 91,084,565 (GRCm39)		probably null	Het
Rbm47	T	A	5: 66,182,358 (GRCm39)	Y425F	probably benign	Het
Robo3	G	T	9: 37,340,957 (GRCm39)	A83E	probably damaging	Het
Rrm1	A	G	7: 102,105,721 (GRCm39)	Y279C	probably damaging	Het
Rslcan18	A	T	13: 67,256,121 (GRCm39)		probably benign	Het
Scara5	C	A	14: 65,968,314 (GRCm39)	Q196K	probably benign	Het
Setd1b	C	T	5: 123,301,210 (GRCm39)		probably benign	Het
Siah1a	A	G	8: 87,451,869 (GRCm39)	F205S	probably damaging	Het
Smr2	AT	ATT	5: 88,256,683 (GRCm39)		probably null	Het
Ssu72	A	G	4: 155,815,814 (GRCm39)	D86G	probably benign	Het
St7	G	T	6: 17,886,110 (GRCm39)	K357N	probably damaging	Het
Sv2b	G	A	7: 74,797,425 (GRCm39)	T323I	probably damaging	Het
Syt1	T	C	10: 108,340,361 (GRCm39)	N319S	probably benign	Het
Tanc1	T	A	2: 59,621,995 (GRCm39)	F371L	probably damaging	Het
Tcf20	C	A	15: 82,739,693 (GRCm39)	G586V	probably benign	Het
Tg	T	C	15: 66,601,534 (GRCm39)		probably null	Het
Tyk2	A	T	9: 21,026,758 (GRCm39)	N620K	probably benign	Het
Ube2j1	T	A	4: 33,045,116 (GRCm39)	S130T	probably benign	Het
Ubr2	G	T	17: 47,243,418 (GRCm39)	P1696H	probably damaging	Het
Ubr5	A	T	15: 38,041,085 (GRCm39)	D266E	probably damaging	Het
Vipr2	A	G	12: 116,107,892 (GRCm39)	T426A	probably benign	Het
Vmn2r104	A	T	17: 20,262,477 (GRCm39)	W218R	probably damaging	Het
Vmn2r83	T	A	10: 79,314,956 (GRCm39)	N401K	probably damaging	Het
Vwf	A	G	6: 125,632,214 (GRCm39)	E82G	unknown	Het
Vwf	T	A	6: 125,640,534 (GRCm39)	Y2323*	probably null	Het
Wdr76	T	G	2: 121,359,402 (GRCm39)	V329G	probably damaging	Het
Zan	A	G	5: 137,460,214 (GRCm39)	C1226R	unknown	Het
Zbtb16	G	T	9: 48,743,572 (GRCm39)	Q247K	probably damaging	Het
Zfp541	T	C	7: 15,812,640 (GRCm39)	V431A	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
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
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'- AGCTGAAGCTCAGGGTCTCCAAAC -3'
(R):5'- GCTCAACCAAGGACTGTGTAAGGTG -3'

Sequencing Primer
(F):5'- gtgtgtgtgtgtAAGATGGGG -3'
(R):5'- ACTGTGTAAGGTGACCGGG -3'

Posted On

2014-04-13