Mutagenetix > Incidental Mutation

Incidental Mutation 'R0265:Alox5'

34846

Institutional Source

Beutler Lab

Gene Symbol

Alox5

Ensembl Gene

ENSMUSG00000025701

Gene Name

arachidonate 5-lipoxygenase

Synonyms

5LO, 5-LOX, 5LX

MMRRC Submission

038491-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R0265 (G1)

Quality Score

210

Status

Validated

Chromosome

Chromosomal Location

116387038-116438139 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116397323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 287 (Y287C)

Ref Sequence

ENSEMBL: ENSMUSP00000130780 (fasta)

Gene Model

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

AlphaFold

P48999

Predicted Effect

probably benign
Transcript: ENSMUST00000026795
AA Change: Y287C

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000026795
Gene: ENSMUSG00000025701
AA Change: Y287C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000164547
AA Change: Y287C

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000130780
Gene: ENSMUSG00000025701
AA Change: Y287C

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: ENSMUST00000167174

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167447

Predicted Effect

probably benign
Transcript: ENSMUST00000170186
AA Change: Y287C

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000130424
Gene: ENSMUSG00000025701
AA Change: Y287C

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 benign
Transcript: ENSMUST00000203722
AA Change: Y287C

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000145367
Gene: ENSMUSG00000025701
AA Change: Y287C

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.6%
20x: 92.0%

Validation Efficiency

99% (83/84)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,822,850 (GRCm39)	I321V	probably benign	Het
Adcy7	A	G	8: 89,051,391 (GRCm39)	D837G	probably damaging	Het
Aldh1a1	T	A	19: 20,617,440 (GRCm39)	Y457*	probably null	Het
Ano8	T	C	8: 71,933,168 (GRCm39)		probably benign	Het
Ap3b1	A	G	13: 94,630,189 (GRCm39)	K815E	unknown	Het
Atp11a	A	T	8: 12,906,930 (GRCm39)		probably benign	Het
Atp6v0a1	A	T	11: 100,939,341 (GRCm39)	D702V	possibly damaging	Het
Cacna1b	T	A	2: 24,651,856 (GRCm39)	N108Y	probably damaging	Het
Ccdc57	G	C	11: 120,812,637 (GRCm39)	A39G	probably benign	Het
Cdhr1	A	T	14: 36,803,333 (GRCm39)	V581D	probably benign	Het
Cfap20dc	T	G	14: 8,431,667 (GRCm38)	Y655S	probably damaging	Het
Cyp2b23	A	G	7: 26,372,304 (GRCm39)		probably benign	Het
D430041D05Rik	G	C	2: 103,998,295 (GRCm39)	P1836R	probably damaging	Het
Ddit4l	C	T	3: 137,330,048 (GRCm39)		probably benign	Het
Dnah8	A	T	17: 30,909,245 (GRCm39)	I1024F	probably benign	Het
Dync2i1	T	C	12: 116,221,026 (GRCm39)		probably benign	Het
Edc3	T	A	9: 57,634,621 (GRCm39)	F213I	probably damaging	Het
Edrf1	G	A	7: 133,258,774 (GRCm39)	D717N	probably damaging	Het
Efna5	G	A	17: 62,958,068 (GRCm39)	P63S	probably damaging	Het
Elapor2	T	C	5: 9,484,681 (GRCm39)	L486P	probably damaging	Het
Entpd3	A	G	9: 120,387,547 (GRCm39)	Y248C	probably damaging	Het
Flcn	G	A	11: 59,686,635 (GRCm39)	Q373*	probably null	Het
Fry	T	C	5: 150,358,241 (GRCm39)	V1908A	probably damaging	Het
Gabrg3	A	T	7: 57,031,365 (GRCm39)	Y58*	probably null	Het
Gabrp	A	T	11: 33,502,614 (GRCm39)	Y417N	probably damaging	Het
Golga2	C	A	2: 32,194,964 (GRCm39)		probably null	Het
Grip2	C	A	6: 91,750,773 (GRCm39)		probably null	Het
Gsx2	A	G	5: 75,237,729 (GRCm39)	Y227C	probably damaging	Het
H2ac1	T	C	13: 24,118,632 (GRCm39)	V63A	probably benign	Het
Hif3a	T	C	7: 16,769,793 (GRCm39)	*665W	probably null	Het
Hsd3b1	C	A	3: 98,760,089 (GRCm39)	V301L	probably damaging	Het
Ifitm5	T	C	7: 140,529,921 (GRCm39)		probably benign	Het
Inpp4a	A	T	1: 37,418,067 (GRCm39)	D498V	probably damaging	Het
Itga1	A	T	13: 115,128,995 (GRCm39)	D554E	probably benign	Het
Itk	G	A	11: 46,280,285 (GRCm39)		probably benign	Het
Kdm3b	T	A	18: 34,928,716 (GRCm39)		probably benign	Het
Klhl6	A	G	16: 19,766,984 (GRCm39)	V470A	probably benign	Het
Lamb3	T	A	1: 193,002,839 (GRCm39)	W95R	probably damaging	Het
Lbhd2	T	A	12: 111,376,676 (GRCm39)	I41N	probably damaging	Het
Lrp4	A	T	2: 91,321,015 (GRCm39)	S1014C	probably damaging	Het
Ltbp2	C	T	12: 84,832,743 (GRCm39)		probably null	Het
Map3k19	A	G	1: 127,749,919 (GRCm39)	I1144T	possibly damaging	Het
Mfsd10	T	C	5: 34,792,507 (GRCm39)		probably benign	Het
Mocos	A	G	18: 24,799,333 (GRCm39)	D189G	probably benign	Het
Mvb12a	T	A	8: 71,999,654 (GRCm39)	F224L	probably damaging	Het
Myo15a	A	T	11: 60,405,723 (GRCm39)		probably null	Het
Nos2	A	T	11: 78,828,428 (GRCm39)	H249L	probably damaging	Het
Notum	A	G	11: 120,549,160 (GRCm39)	M184T	probably benign	Het
Nvl	C	A	1: 180,962,395 (GRCm39)	D192Y	probably damaging	Het
Or10j3	A	G	1: 173,031,484 (GRCm39)	K187R	probably benign	Het
Or4f57	T	C	2: 111,790,839 (GRCm39)	Y193C	probably damaging	Het
Or5ac22	A	T	16: 59,135,434 (GRCm39)	F112Y	probably damaging	Het
Or5m12	T	A	2: 85,734,591 (GRCm39)	N269I	probably benign	Het
Or8k27	C	A	2: 86,276,303 (GRCm39)	V8L	probably benign	Het
Osgin1	A	G	8: 120,172,396 (GRCm39)	I397V	possibly damaging	Het
Otulin	A	G	15: 27,616,510 (GRCm39)	V123A	probably damaging	Het
P4ha1	A	G	10: 59,184,081 (GRCm39)	Y181C	probably damaging	Het
Pcdhgc5	A	T	18: 37,954,403 (GRCm39)	D559V	probably damaging	Het
Phf2	T	C	13: 48,982,270 (GRCm39)	N151S	unknown	Het
Plxnc1	C	A	10: 94,648,991 (GRCm39)	G1263C	probably benign	Het
Rad51ap1	A	G	6: 126,901,160 (GRCm39)	*338Q	probably null	Het
Raver1	A	G	9: 20,986,955 (GRCm39)	S676P	probably benign	Het
Rfx8	T	C	1: 39,727,737 (GRCm39)	E196G	possibly damaging	Het
Rreb1	A	T	13: 38,100,131 (GRCm39)	K187*	probably null	Het
Rxfp1	T	C	3: 79,574,961 (GRCm39)	T217A	probably benign	Het
Rxra	T	C	2: 27,642,442 (GRCm39)	L305P	probably damaging	Het
Sardh	T	C	2: 27,117,078 (GRCm39)		probably benign	Het
Skor2	A	T	18: 76,964,293 (GRCm39)	E952D	probably damaging	Het
Slc22a29	A	T	19: 8,147,334 (GRCm39)	S343T	probably benign	Het
Sorbs2	T	C	8: 46,238,374 (GRCm39)		probably benign	Het
Supt7l	C	T	5: 31,673,262 (GRCm39)	V329I	probably benign	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Tac1	T	C	6: 7,559,165 (GRCm39)		probably benign	Het
Tcn2	A	T	11: 3,872,044 (GRCm39)	V361D	probably damaging	Het
Tm2d3	G	A	7: 65,347,582 (GRCm39)	A170T	possibly damaging	Het
Tnks	G	A	8: 35,307,124 (GRCm39)	R1142*	probably null	Het
Ttll7	C	A	3: 146,649,915 (GRCm39)	Y648*	probably null	Het
Umod	G	T	7: 119,065,296 (GRCm39)	Q578K	probably benign	Het
Upf2	G	A	2: 6,032,015 (GRCm39)		probably benign	Het
Vmn2r92	C	T	17: 18,388,219 (GRCm39)	A408V	probably damaging	Het
Washc5	A	G	15: 59,210,809 (GRCm39)	I1013T	probably benign	Het
Zfp704	C	A	3: 9,630,217 (GRCm39)	R48L	probably damaging	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
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
R1484:Alox5	UTSW	6	116,431,128 (GRCm39)	missense	probably damaging	1.00
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'- AGCCCTAGAGGTACAAGTCGTACAG -3'
(R):5'- ACAGACTCTTCCAGTGACCAGCAG -3'

Sequencing Primer
(F):5'- TACAAGTCGTACAGAAGGGCTG -3'
(R):5'- TGGTCACATGAAGAATCGTCC -3'

Posted On

2013-05-09