Mutagenetix > Incidental Mutation

Incidental Mutation 'R4792:Alox5'

368669

Institutional Source

Beutler Lab

Gene Symbol

Alox5

Ensembl Gene

ENSMUSG00000025701

Gene Name

arachidonate 5-lipoxygenase

Synonyms

5LO, 5-LOX, 5LX

MMRRC Submission

042419-MU

Accession Numbers

Essential gene?

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

Stock #

R4792 (G1)

Quality Score

161

Status

Validated

Chromosome

Chromosomal Location

116387038-116438139 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 116437964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 8 (V8L)

Ref Sequence

ENSEMBL: ENSMUSP00000145367 (fasta)

Gene Model

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

AlphaFold

P48999

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026795
AA Change: V8L

PolyPhen 2 Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000026795
Gene: ENSMUSG00000025701
AA Change: V8L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164547
AA Change: V8L

PolyPhen 2 Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000130780
Gene: ENSMUSG00000025701
AA Change: V8L

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

possibly damaging
Transcript: ENSMUST00000170186
AA Change: V8L

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130424
Gene: ENSMUSG00000025701
AA Change: V8L

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

possibly damaging
Transcript: ENSMUST00000203722
AA Change: V8L

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000145367
Gene: ENSMUSG00000025701
AA Change: V8L

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

Meta Mutation Damage Score

0.1565

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

97% (89/92)

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
2310061N02Rik	A	G	16: 88,504,651 (GRCm39)	S49P	possibly damaging	Het
Abcb1a	T	C	5: 8,796,657 (GRCm39)		probably null	Het
Adgb	G	A	10: 10,274,647 (GRCm39)	T770I	probably damaging	Het
Adgre4	A	T	17: 56,098,491 (GRCm39)	T134S	probably benign	Het
Aldh1a1	A	G	19: 20,597,349 (GRCm39)	N110S	probably damaging	Het
Ambra1	A	G	2: 91,603,191 (GRCm39)	T392A	possibly damaging	Het
Apob	A	G	12: 8,058,051 (GRCm39)	I2145V	probably benign	Het
Arhgap39	A	G	15: 76,625,717 (GRCm39)	Y196H	possibly damaging	Het
Armh2	A	G	13: 24,930,490 (GRCm39)		probably benign	Het
Carmil1	A	G	13: 24,251,173 (GRCm39)	L439S	probably damaging	Het
Carmil1	A	T	13: 24,325,659 (GRCm39)	S224T	possibly damaging	Het
Cfh	G	A	1: 140,028,561 (GRCm39)	Q706*	probably null	Het
Chd2	A	C	7: 73,118,325 (GRCm39)	S1098A	probably benign	Het
Chrna5	A	T	9: 54,911,985 (GRCm39)	I158F	probably damaging	Het
Cilk1	A	G	9: 78,060,975 (GRCm39)	D207G	probably damaging	Het
Col6a5	T	C	9: 105,807,983 (GRCm39)	T1022A	unknown	Het
Cul7	T	A	17: 46,967,976 (GRCm39)	Y423*	probably null	Het
Cyp2e1	T	C	7: 140,353,588 (GRCm39)	Y342H	probably benign	Het
D630045J12Rik	T	C	6: 38,125,275 (GRCm39)	K1580E	probably damaging	Het
Dnah6	A	G	6: 73,066,651 (GRCm39)	M2573T	probably damaging	Het
Dnai4	T	C	4: 102,929,881 (GRCm39)	K370R	possibly damaging	Het
Edem1	T	A	6: 108,805,707 (GRCm39)		probably benign	Het
Erp29	C	T	5: 121,585,237 (GRCm39)	E86K	probably benign	Het
Esrp2	C	A	8: 106,859,141 (GRCm39)	R535L	probably damaging	Het
Gabrb2	C	T	11: 42,420,330 (GRCm39)		probably benign	Het
Gpat3	C	T	5: 101,005,039 (GRCm39)	P58L	probably benign	Het
Herc1	T	A	9: 66,403,266 (GRCm39)	V4395E	possibly damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hmgb2	G	A	8: 57,966,344 (GRCm39)	C106Y	probably damaging	Het
Hoxa10	T	C	6: 52,209,481 (GRCm39)		probably benign	Het
Hsd3b1	T	A	3: 98,760,226 (GRCm39)	Y255F	probably benign	Het
Ighd	T	C	12: 113,379,819 (GRCm39)	K42E	probably benign	Het
Ighv1-26	T	C	12: 114,752,191 (GRCm39)	Y51C	possibly damaging	Het
Ighv5-2	C	T	12: 113,542,419 (GRCm39)	E19K	possibly damaging	Het
Ipo11	T	C	13: 106,970,668 (GRCm39)		probably benign	Het
Itk	C	T	11: 46,235,658 (GRCm39)		probably benign	Het
Kat6a	T	A	8: 23,430,592 (GRCm39)	H1982Q	unknown	Het
Kdm4d	C	T	9: 14,374,686 (GRCm39)	V391I	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lgr6	T	A	1: 134,949,544 (GRCm39)	S229C	probably benign	Het
Lhx9	T	A	1: 138,766,089 (GRCm39)	Y233F	possibly damaging	Het
Lmf1	G	A	17: 25,873,445 (GRCm39)	V317M	probably damaging	Het
Mapk4	T	C	18: 74,070,321 (GRCm39)	T191A	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Naglu	C	T	11: 100,961,932 (GRCm39)	T135M	probably damaging	Het
Nomo1	T	A	7: 45,693,643 (GRCm39)		probably null	Het
Nop56	T	A	2: 130,119,784 (GRCm39)	V75E	possibly damaging	Het
Nr1i3	G	A	1: 171,046,164 (GRCm39)	C283Y	probably damaging	Het
Or4x6	T	A	2: 89,949,174 (GRCm39)	Y256F	possibly damaging	Het
Or51d1	G	A	7: 102,347,933 (GRCm39)	G163R	probably damaging	Het
Or6c38	T	G	10: 128,929,489 (GRCm39)	Y118S	probably damaging	Het
Pcdhga2	A	G	18: 37,802,452 (GRCm39)	S99G	probably benign	Het
Pcnx1	T	A	12: 81,965,925 (GRCm39)	D697E	probably damaging	Het
Plxnb1	G	A	9: 108,939,716 (GRCm39)	D1462N	probably damaging	Het
Pnn	G	T	12: 59,118,991 (GRCm39)	V525F	possibly damaging	Het
Prrc2a	A	T	17: 35,375,463 (GRCm39)	D1062E	probably damaging	Het
Prss35	T	A	9: 86,637,722 (GRCm39)	V164E	probably damaging	Het
Psapl1	T	C	5: 36,362,547 (GRCm39)	S380P	probably benign	Het
Rnf222	A	T	11: 68,783,845 (GRCm39)	E137D	probably damaging	Het
Rsph10b	A	G	5: 143,874,135 (GRCm39)	T79A	probably damaging	Het
Sbf2	T	C	7: 109,950,817 (GRCm39)	Q1164R	probably damaging	Het
Scn7a	T	C	2: 66,556,592 (GRCm39)	D331G	probably damaging	Het
Shtn1	G	C	19: 59,039,305 (GRCm39)	R45G	probably damaging	Het
Sspo	G	A	6: 48,438,519 (GRCm39)	S1529N	probably benign	Het
St8sia3	T	A	18: 64,398,634 (GRCm39)	V31E	probably benign	Het
Sult1b1	A	T	5: 87,662,906 (GRCm39)	W265R	probably damaging	Het
Supt5	G	T	7: 28,015,754 (GRCm39)	Q863K	probably benign	Het
Tbc1d31	A	G	15: 57,804,124 (GRCm39)	R380G	probably benign	Het
Tdpoz1	T	A	3: 93,577,845 (GRCm39)	D313V	possibly damaging	Het
Tmem260	CAGGGACCGGCATAG	CAG	14: 48,749,451 (GRCm39)		probably benign	Het
Tpx2	A	T	2: 152,727,016 (GRCm39)	T428S	probably damaging	Het
Trip11	A	T	12: 101,851,705 (GRCm39)	H786Q	probably benign	Het
Trpc6	A	T	9: 8,626,615 (GRCm39)	M322L	probably benign	Het
Try10	T	C	6: 41,332,386 (GRCm39)	V14A	probably benign	Het
Unc13d	A	T	11: 115,961,108 (GRCm39)	F416L	probably damaging	Het
Vmn2r75	A	T	7: 85,812,378 (GRCm39)	M547K	possibly damaging	Het
Zbp1	A	G	2: 173,051,006 (GRCm39)	F288S	probably damaging	Het
Zc3h11a	T	A	1: 133,568,436 (GRCm39)	Q71L	probably damaging	Het
Zfp40	G	A	17: 23,396,008 (GRCm39)	T193I	possibly damaging	Het
Zfp607a	T	C	7: 27,578,078 (GRCm39)	Y383H	probably benign	Het
Zfp622	T	A	15: 25,987,128 (GRCm39)	Y82*	probably null	Het
Zfp964	T	C	8: 70,116,665 (GRCm39)	F422L	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
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
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'- AGACAGTTCTCAGGTGCCTG -3'
(R):5'- TCAGAGATCACTGTCCCTCC -3'

Sequencing Primer
(F):5'- AGGTGCCTGCCTGTCCTG -3'
(R):5'- TCCAGTGCCACAGGAGAG -3'

Posted On

2016-02-04