Mutagenetix > Incidental Mutation

Incidental Mutation 'R1484:Alox5'

163307

Institutional Source

Beutler Lab

Gene Symbol

Alox5

Ensembl Gene

ENSMUSG00000025701

Gene Name

arachidonate 5-lipoxygenase

Synonyms

5LO, 5-LOX, 5LX

MMRRC Submission

039537-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R1484 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116387038-116438139 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 116431128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 100 (C100Y)

Ref Sequence

ENSEMBL: ENSMUSP00000145367 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026795] [ENSMUST00000164547] [ENSMUST00000170186] [ENSMUST00000203722]

AlphaFold

P48999

Predicted Effect

probably damaging
Transcript: ENSMUST00000026795
AA Change: C100Y

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

SMART Domains

Protein: ENSMUSP00000026795
Gene: ENSMUSG00000025701
AA Change: C100Y

Domain	Start	End	E-Value	Type
LH2	2	115	3.41e-39	SMART
Pfam:Lipoxygenase	212	662	1.5e-79	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000164547
AA Change: C100Y

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

SMART Domains

Protein: ENSMUSP00000130780
Gene: ENSMUSG00000025701
AA Change: C100Y

Domain	Start	End	E-Value	Type
LH2	2	115	3.41e-39	SMART
Pfam:Lipoxygenase	125	217	5.1e-12	PFAM
Pfam:Lipoxygenase	213	564	8.4e-133	PFAM
Pfam:Lipoxygenase	558	609	7.3e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167447

Predicted Effect

probably damaging
Transcript: ENSMUST00000170186
AA Change: C100Y

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

SMART Domains

Protein: ENSMUSP00000130424
Gene: ENSMUSG00000025701
AA Change: C100Y

Domain	Start	End	E-Value	Type
LH2	2	115	3.41e-39	SMART
Pfam:Lipoxygenase	150	220	1.9e-13	PFAM
Pfam:Lipoxygenase	215	432	8.6e-79	PFAM
Pfam:Lipoxygenase	426	634	1e-73	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000203722
AA Change: C100Y

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

SMART Domains

Protein: ENSMUSP00000145367
Gene: ENSMUSG00000025701
AA Change: C100Y

Domain	Start	End	E-Value	Type
LH2	2	115	2.2e-41	SMART
Pfam:Lipoxygenase	213	430	3e-35	PFAM

Meta Mutation Damage Score

0.9691

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.4%

Validation Efficiency

97% (85/88)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the lipoxygenase gene family and plays a dual role in the synthesis of leukotrienes from arachidonic acid. The encoded protein, which is expressed specifically in bone marrow-derived cells, catalyzes the conversion of arachidonic acid to 5(S)-hydroperoxy-6-trans-8,11,14-cis-eicosatetraenoic acid, and further to the allylic epoxide 5(S)-trans-7,9-trans-11,14-cis-eicosatetrenoic acid (leukotriene A4). Leukotrienes are important mediators of a number of inflammatory and allergic conditions. Mutations in the promoter region of this gene lead to a diminished response to antileukotriene drugs used in the treatment of asthma and may also be associated with atherosclerosis and several cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Nullizygous mice show altered inflammatory responses. One null mutation causes resistance to lethal anaphylaxis, abnormal eicosanoid production and neutrophil recruitment while another leads to increased body fat, bone density, leptin and VLDL cholesterol levels and resistance to autoimmune uveitis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930584F24Rik	A	T	5: 26,684,776 (GRCm39)		noncoding transcript	Het
Acvr1	A	T	2: 58,369,901 (GRCm39)	V36E	probably damaging	Het
Aldh4a1	A	G	4: 139,370,758 (GRCm39)	I414V	probably benign	Het
Ano5	T	A	7: 51,216,068 (GRCm39)	D348E	probably damaging	Het
Arhgap30	G	A	1: 171,230,839 (GRCm39)	V199M	probably damaging	Het
Arl13b	T	A	16: 62,626,999 (GRCm39)	Q234L	probably benign	Het
Atxn1	C	A	13: 45,711,052 (GRCm39)	E627*	probably null	Het
Bend3	T	C	10: 43,386,197 (GRCm39)	F197L	probably benign	Het
Brca1	A	T	11: 101,420,638 (GRCm39)	V190E	possibly damaging	Het
Brpf1	T	C	6: 113,292,096 (GRCm39)	W381R	probably damaging	Het
Brwd1	A	C	16: 95,829,491 (GRCm39)		probably null	Het
C1s2	T	C	6: 124,602,604 (GRCm39)	I530V	possibly damaging	Het
C2cd3	C	T	7: 100,089,397 (GRCm39)	R1638W	probably damaging	Het
Capns1	T	A	7: 29,893,511 (GRCm39)		probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cep126	G	A	9: 8,100,554 (GRCm39)	T660I	possibly damaging	Het
Cep295	A	C	9: 15,246,080 (GRCm39)	I744R	probably damaging	Het
Chd3	T	C	11: 69,250,725 (GRCm39)	E668G	probably benign	Het
Chek2	A	G	5: 110,996,553 (GRCm39)	T172A	probably damaging	Het
Col6a4	A	G	9: 105,890,501 (GRCm39)		probably null	Het
Coq3	G	A	4: 21,900,291 (GRCm39)	V173I	probably benign	Het
Cyp4x1	A	T	4: 114,970,098 (GRCm39)	I343N	probably damaging	Het
Dnah7b	T	A	1: 46,176,703 (GRCm39)	D774E	probably benign	Het
Dnai3	T	C	3: 145,802,996 (GRCm39)	D65G	probably benign	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
Esrra	T	C	19: 6,890,197 (GRCm39)	Y209C	probably damaging	Het
Gpr149	A	T	3: 62,502,592 (GRCm39)	D421E	probably benign	Het
Gpr15	T	C	16: 58,538,937 (GRCm39)	N51D	probably damaging	Het
Gpr156	T	C	16: 37,812,558 (GRCm39)	V298A	probably damaging	Het
Hmcn2	G	A	2: 31,236,507 (GRCm39)	G350D	probably damaging	Het
Ifih1	A	T	2: 62,440,902 (GRCm39)	N421K	probably benign	Het
Ilvbl	C	A	10: 78,412,564 (GRCm39)	T95K	probably damaging	Het
Itgb4	T	A	11: 115,890,625 (GRCm39)	D1104E	probably benign	Het
Katnip	C	A	7: 125,415,743 (GRCm39)		probably benign	Het
Lipf	A	T	19: 33,942,180 (GRCm39)	M37L	probably benign	Het
Lyst	T	A	13: 13,852,775 (GRCm39)	N2258K	probably benign	Het
Moxd1	A	G	10: 24,099,758 (GRCm39)	Y86C	probably damaging	Het
Muc5ac	T	C	7: 141,367,629 (GRCm39)		probably null	Het
Myo16	G	A	8: 10,610,145 (GRCm39)	R1162H	probably damaging	Het
Myo5c	A	T	9: 75,208,092 (GRCm39)	N1609Y	probably damaging	Het
Nbeal1	T	C	1: 60,240,098 (GRCm39)	F155L	probably damaging	Het
Nek4	A	T	14: 30,704,290 (GRCm39)	M602L	possibly damaging	Het
Nek9	A	G	12: 85,348,622 (GRCm39)	S971P	probably damaging	Het
Nfya	A	T	17: 48,700,570 (GRCm39)		probably benign	Het
Nrxn3	A	T	12: 89,221,547 (GRCm39)	N442I	probably damaging	Het
Nup42	A	C	5: 24,383,075 (GRCm39)	K200N	probably benign	Het
Or1e26	T	A	11: 73,480,187 (GRCm39)	I126L	possibly damaging	Het
Or4c111	G	A	2: 88,843,713 (GRCm39)	R232*	probably null	Het
Or7g32	G	A	9: 19,389,423 (GRCm39)	T38I	probably damaging	Het
Pcdh15	T	A	10: 74,126,833 (GRCm39)	I304N	probably damaging	Het
Pigo	G	C	4: 43,024,779 (GRCm39)	P107A	probably damaging	Het
Plce1	C	T	19: 38,693,783 (GRCm39)	Q769*	probably null	Het
Plin2	C	T	4: 86,575,481 (GRCm39)	R356H	probably benign	Het
Ppp1r9a	G	T	6: 5,113,712 (GRCm39)	E739*	probably null	Het
Ppp3cc	G	T	14: 70,478,397 (GRCm39)	N268K	probably damaging	Het
Prkag3	T	A	1: 74,779,919 (GRCm39)	D472V	probably damaging	Het
Ptch2	A	T	4: 116,968,046 (GRCm39)	D846V	probably damaging	Het
Rhob	A	T	12: 8,549,388 (GRCm39)	M82K	probably damaging	Het
Rps6kc1	T	A	1: 190,531,672 (GRCm39)	R777W	possibly damaging	Het
Sap130	T	A	18: 31,844,380 (GRCm39)	V850E	probably damaging	Het
Sema3a	T	G	5: 13,523,407 (GRCm39)	N125K	probably damaging	Het
Sema5a	A	G	15: 32,460,431 (GRCm39)	D64G	probably damaging	Het
Sgo2b	T	A	8: 64,384,507 (GRCm39)	D163V	possibly damaging	Het
Slc15a1	A	T	14: 121,728,651 (GRCm39)	Y31*	probably null	Het
Smchd1	A	T	17: 71,685,252 (GRCm39)	M1392K	probably benign	Het
Sobp	T	A	10: 43,036,827 (GRCm39)	N37I	probably damaging	Het
Spock3	G	T	8: 63,673,739 (GRCm39)	C142F	probably damaging	Het
Stx6	A	C	1: 155,053,650 (GRCm39)	S86R	probably benign	Het
Sult2a4	C	A	7: 13,643,726 (GRCm39)	M280I	probably benign	Het
Synm	A	T	7: 67,386,080 (GRCm39)	D527E	probably damaging	Het
Tax1bp1	C	T	6: 52,710,305 (GRCm39)	R195W	probably damaging	Het
Themis2	A	T	4: 132,519,796 (GRCm39)	N76K	possibly damaging	Het
Tmem8b	A	G	4: 43,690,234 (GRCm39)	T890A	probably benign	Het
Traf7	T	A	17: 24,730,785 (GRCm39)	H366L	possibly damaging	Het
Trim30c	A	T	7: 104,032,459 (GRCm39)	V289D	probably benign	Het
Tsr1	T	A	11: 74,792,914 (GRCm39)	D407E	probably damaging	Het
Ubap2	G	T	4: 41,235,593 (GRCm39)	A33E	probably damaging	Het
Unc13d	C	A	11: 115,964,701 (GRCm39)	R255L	possibly damaging	Het
Ush2a	G	T	1: 188,542,534 (GRCm39)	G3367*	probably null	Het
Vmn1r229	T	C	17: 21,034,791 (GRCm39)	L12P	probably damaging	Het
Vmn2r27	C	A	6: 124,177,474 (GRCm39)	G510V	probably damaging	Het
Vps4b	T	C	1: 106,707,712 (GRCm39)	E257G	probably damaging	Het
Vps72	T	C	3: 95,026,462 (GRCm39)	S136P	probably damaging	Het
Wdr36	T	C	18: 32,976,938 (GRCm39)	I181T	possibly damaging	Het
Wfikkn1	C	T	17: 26,096,765 (GRCm39)	A520T	probably benign	Het

Other mutations in Alox5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Alox5	APN	6	116,392,478 (GRCm39)	missense	probably damaging	1.00
IGL00954:Alox5	APN	6	116,431,260 (GRCm39)	missense	probably damaging	1.00
IGL01610:Alox5	APN	6	116,390,508 (GRCm39)	missense	probably damaging	1.00
IGL02161:Alox5	APN	6	116,400,154 (GRCm39)	missense	probably benign	0.31
IGL02653:Alox5	APN	6	116,392,438 (GRCm39)	missense	probably benign	0.41
IGL02903:Alox5	APN	6	116,397,296 (GRCm39)	missense	probably damaging	1.00
clanger	UTSW	6	116,391,556 (GRCm39)	missense	probably damaging	1.00
nova	UTSW	6	116,389,510 (GRCm39)	nonsense	probably null
timpani	UTSW	6	116,392,417 (GRCm39)	missense	probably damaging	1.00
Triangle	UTSW	6	116,404,098 (GRCm39)	splice site	probably null
R0265:Alox5	UTSW	6	116,397,323 (GRCm39)	missense	probably benign	0.04
R0347:Alox5	UTSW	6	116,390,513 (GRCm39)	missense	possibly damaging	0.88
R0543:Alox5	UTSW	6	116,431,278 (GRCm39)	critical splice acceptor site	probably null
R0633:Alox5	UTSW	6	116,397,345 (GRCm39)	missense	probably damaging	1.00
R0656:Alox5	UTSW	6	116,400,291 (GRCm39)	splice site	probably benign
R1298:Alox5	UTSW	6	116,404,225 (GRCm39)	missense	probably damaging	1.00
R1416:Alox5	UTSW	6	116,400,106 (GRCm39)	nonsense	probably null
R1485:Alox5	UTSW	6	116,401,125 (GRCm39)	missense	probably damaging	1.00
R1518:Alox5	UTSW	6	116,390,741 (GRCm39)	missense	probably damaging	0.99
R1993:Alox5	UTSW	6	116,392,424 (GRCm39)	missense	probably damaging	1.00
R2313:Alox5	UTSW	6	116,390,822 (GRCm39)	missense	probably benign	0.00
R3125:Alox5	UTSW	6	116,404,098 (GRCm39)	splice site	probably null
R4042:Alox5	UTSW	6	116,437,979 (GRCm39)	missense	possibly damaging	0.95
R4092:Alox5	UTSW	6	116,389,635 (GRCm39)	intron	probably benign
R4356:Alox5	UTSW	6	116,397,219 (GRCm39)	missense	probably benign	0.05
R4367:Alox5	UTSW	6	116,437,924 (GRCm39)	missense	possibly damaging	0.86
R4690:Alox5	UTSW	6	116,400,150 (GRCm39)	missense	probably damaging	1.00
R4792:Alox5	UTSW	6	116,437,964 (GRCm39)	missense	possibly damaging	0.94
R4873:Alox5	UTSW	6	116,390,811 (GRCm39)	splice site	probably null
R4875:Alox5	UTSW	6	116,390,811 (GRCm39)	splice site	probably null
R5135:Alox5	UTSW	6	116,390,747 (GRCm39)	missense	probably benign	0.00
R5242:Alox5	UTSW	6	116,437,927 (GRCm39)	missense	probably damaging	0.97
R5343:Alox5	UTSW	6	116,390,468 (GRCm39)	missense	possibly damaging	0.95
R5780:Alox5	UTSW	6	116,397,310 (GRCm39)	missense	probably benign	0.10
R6348:Alox5	UTSW	6	116,391,556 (GRCm39)	missense	probably damaging	1.00
R6724:Alox5	UTSW	6	116,391,509 (GRCm39)	missense	probably damaging	1.00
R6769:Alox5	UTSW	6	116,392,145 (GRCm39)	splice site	probably null
R6954:Alox5	UTSW	6	116,397,241 (GRCm39)	nonsense	probably null
R7102:Alox5	UTSW	6	116,390,429 (GRCm39)	missense	probably benign	0.01
R7476:Alox5	UTSW	6	116,392,394 (GRCm39)	missense	probably benign	0.06
R7626:Alox5	UTSW	6	116,390,756 (GRCm39)	missense	possibly damaging	0.94
R7690:Alox5	UTSW	6	116,392,417 (GRCm39)	missense	probably damaging	1.00
R7912:Alox5	UTSW	6	116,389,497 (GRCm39)	missense	probably benign	0.05
R8234:Alox5	UTSW	6	116,390,835 (GRCm39)	missense	probably damaging	0.98
R8701:Alox5	UTSW	6	116,390,787 (GRCm39)	missense	possibly damaging	0.47
R8787:Alox5	UTSW	6	116,390,102 (GRCm39)	missense	probably damaging	0.99
R8910:Alox5	UTSW	6	116,389,510 (GRCm39)	nonsense	probably null
R9708:Alox5	UTSW	6	116,392,537 (GRCm39)	missense	probably damaging	1.00
X0028:Alox5	UTSW	6	116,401,115 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACTCCTCAGGCTATTAGCTCCAC -3'
(R):5'- CACAGCATCAGTATTCAGGCCCAG -3'

Sequencing Primer
(F):5'- TAGAGCAGAGGAAGATCTCATCTCC -3'
(R):5'- TCAGGCCCAGGAGGCAG -3'

Posted On

2014-03-28