Mutagenetix > Incidental Mutation

Incidental Mutation 'R0726:Alox15'

63771

Institutional Source

Beutler Lab

Gene Symbol

Alox15

Ensembl Gene

ENSMUSG00000018924

Gene Name

arachidonate 15-lipoxygenase

Synonyms

L-12LO, Alox12l, 12-LO

MMRRC Submission

038908-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0726 (G1)

Quality Score

203

Status

Validated

Chromosome

Chromosomal Location

70344152-70352031 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70350195 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 160 (D160V)

Ref Sequence

ENSEMBL: ENSMUSP00000019068 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019068]

AlphaFold

P39654

Predicted Effect

probably damaging
Transcript: ENSMUST00000019068
AA Change: D160V

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

SMART Domains

Protein: ENSMUSP00000019068
Gene: ENSMUSG00000018924
AA Change: D160V

Domain	Start	End	E-Value	Type
LH2	2	112	2.18e-37	SMART
low complexity region	124	141	N/A	INTRINSIC
Pfam:Lipoxygenase	156	649	1.8e-63	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130000

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.1%
20x: 89.2%

Validation Efficiency

98% (90/92)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele show altered arachidonic acid metabolism and develop a myeloproliferative disorder associated with splenomegaly, abnormal splenic architecture, leukocystosis, basophilia, abnormal lymph node morphology, dermatitis, and premature death likely due to anemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg12	T	C	15: 88,806,647	Y256C	probably damaging	Het
Aox2	T	C	1: 58,334,782		probably benign	Het
Bbs9	G	T	9: 22,793,823	A729S	probably damaging	Het
Bmp2k	T	A	5: 97,087,494		probably benign	Het
Braf	C	T	6: 39,662,148	R223Q	possibly damaging	Het
Cd101	A	T	3: 101,020,622	S48T	possibly damaging	Het
Cdh9	T	G	15: 16,831,044	D322E	probably benign	Het
Col28a1	C	T	6: 8,014,495		probably null	Het
Cpxm1	G	A	2: 130,390,939	R712W	probably damaging	Het
Csnk1g1	T	C	9: 66,032,355		probably benign	Het
Cyp2d37-ps	A	C	15: 82,690,449		noncoding transcript	Het
Cyth3	T	C	5: 143,692,642	V115A	probably benign	Het
Dnah9	C	T	11: 65,965,681	V2885M	probably damaging	Het
Dock9	G	T	14: 121,651,768	Y326*	probably null	Het
Espl1	T	C	15: 102,322,598	I1844T	probably benign	Het
Fam105a	A	T	15: 27,656,947	I338N	probably damaging	Het
Fam20a	T	A	11: 109,677,194	N357Y	probably damaging	Het
Fancc	C	A	13: 63,323,411	R385L	probably benign	Het
Foxe3	A	T	4: 114,925,250	L255H	unknown	Het
Frem2	T	C	3: 53,519,626	D2967G	possibly damaging	Het
Gabra6	T	G	11: 42,315,127	T301P	probably damaging	Het
Ganab	T	A	19: 8,911,113	Y511N	probably damaging	Het
Gm498	A	G	7: 143,871,761	D49G	probably damaging	Het
Grm4	T	A	17: 27,438,438		probably benign	Het
Hist1h1t	G	T	13: 23,696,324	K153N	possibly damaging	Het
Kcnj9	G	A	1: 172,325,921	S212F	probably damaging	Het
Kif15	C	A	9: 122,959,928	H62N	probably benign	Het
Kptn	A	G	7: 16,120,722	D106G	probably damaging	Het
Krtap13-1	T	A	16: 88,729,304	S139T	probably damaging	Het
Lepr	C	A	4: 101,764,934	N354K	probably benign	Het
Lypd3	G	T	7: 24,638,544	E112*	probably null	Het
Med13l	A	T	5: 118,748,684	N1550I	probably damaging	Het
Mettl2	C	T	11: 105,126,844	P60L	probably benign	Het
Muc4	A	G	16: 32,769,827	E850G	probably damaging	Het
Mylk	G	C	16: 34,879,475	E403Q	possibly damaging	Het
Nek1	A	G	8: 61,089,592	R739G	probably damaging	Het
Nipbl	A	T	15: 8,351,555	D584E	probably benign	Het
Nkain3	C	T	4: 20,158,388	V162M	possibly damaging	Het
Nmrk1	T	C	19: 18,641,480		probably benign	Het
Nsd2	T	C	5: 33,861,028		probably benign	Het
Olfr1198	A	T	2: 88,746,008	N293K	probably benign	Het
Olfr1270	T	A	2: 90,149,283	H241L	probably damaging	Het
Olfr133	T	C	17: 38,148,624	F12S	probably damaging	Het
Olfr1449	T	A	19: 12,935,605	V289D	probably damaging	Het
Olfr907	T	A	9: 38,499,122	M151K	possibly damaging	Het
Phex	T	A	X: 157,372,561		probably benign	Het
Pip5k1b	G	T	19: 24,378,892	D227E	probably damaging	Het
Prdm13	A	G	4: 21,683,914	I119T	unknown	Het
Rab19	G	T	6: 39,383,959	V14L	probably benign	Het
Rasa3	A	G	8: 13,580,118		probably benign	Het
Rgsl1	C	T	1: 153,802,328	S118N	probably damaging	Het
Rif1	C	T	2: 52,110,353	T1273M	possibly damaging	Het
Scn8a	A	G	15: 100,972,830	N254S	probably damaging	Het
Sema6a	T	C	18: 47,291,981	T188A	probably damaging	Het
Sh3pxd2a	C	T	19: 47,268,762	E506K	probably damaging	Het
Smarca2	A	T	19: 26,698,403	K1014N	probably damaging	Het
Smarca4	T	G	9: 21,700,139		probably null	Het
Sntb1	T	C	15: 55,676,356	R361G	probably benign	Het
Soga1	G	T	2: 157,060,262	R278S	probably damaging	Het
Stx5a	T	A	19: 8,754,911	I208N	probably damaging	Het
Tas2r102	T	A	6: 132,762,452	W108R	probably damaging	Het
Tcl1	A	G	12: 105,218,670	Y94H	probably damaging	Het
Tenm3	T	A	8: 48,236,594	Y1986F	probably damaging	Het
Tet2	G	A	3: 133,468,184	P1439L	probably benign	Het
Tiam2	T	C	17: 3,512,833		probably benign	Het
Ubap2l	G	A	3: 90,021,246	T526M	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Uhrf1bp1	T	C	17: 27,885,489	V503A	possibly damaging	Het
Ushbp1	T	A	8: 71,388,747		probably benign	Het
Usp28	C	T	9: 49,003,869	R115C	probably damaging	Het
Vldlr	A	T	19: 27,238,386	D261V	probably damaging	Het
Vmn2r5	C	T	3: 64,503,765	D461N	probably benign	Het
Vmn2r86	A	T	10: 130,446,396	F784I	probably damaging	Het
Zfp59	A	T	7: 27,854,088	I322F	probably damaging	Het
Zfp607a	A	T	7: 27,879,149	H548L	probably benign	Het
Zfp626	G	A	7: 27,818,623	C343Y	probably damaging	Het

Other mutations in Alox15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01364:Alox15	APN	11	70345166	missense	possibly damaging	0.95
IGL02231:Alox15	APN	11	70349556	missense	probably benign
IGL02403:Alox15	APN	11	70345901	missense	probably damaging	0.96
IGL03377:Alox15	APN	11	70349662	missense	probably damaging	1.00
R0011:Alox15	UTSW	11	70349596	missense	possibly damaging	0.66
R0013:Alox15	UTSW	11	70349635	missense	possibly damaging	0.95
R0267:Alox15	UTSW	11	70346153	missense	probably damaging	0.99
R0646:Alox15	UTSW	11	70345624	nonsense	probably null
R1553:Alox15	UTSW	11	70349632	missense	possibly damaging	0.46
R1687:Alox15	UTSW	11	70349918	missense	probably benign	0.10
R1848:Alox15	UTSW	11	70350752	missense	probably damaging	0.99
R1974:Alox15	UTSW	11	70349973	missense	probably benign	0.06
R3113:Alox15	UTSW	11	70344877	missense	probably benign	0.20
R4551:Alox15	UTSW	11	70344596	missense	probably benign
R5511:Alox15	UTSW	11	70349982	missense	probably benign	0.00
R5809:Alox15	UTSW	11	70350882	missense	probably damaging	1.00
R6479:Alox15	UTSW	11	70345185	missense	probably damaging	0.98
R6800:Alox15	UTSW	11	70344819	critical splice donor site	probably null
R7243:Alox15	UTSW	11	70350714	missense	probably null	1.00
R7253:Alox15	UTSW	11	70345898	missense	probably damaging	1.00
R7644:Alox15	UTSW	11	70345542	missense	probably null	1.00
R7712:Alox15	UTSW	11	70350253	critical splice acceptor site	probably null
R7823:Alox15	UTSW	11	70344668	missense	possibly damaging	0.86
R8192:Alox15	UTSW	11	70350910	missense	probably benign	0.38
R8410:Alox15	UTSW	11	70344927	missense	probably benign	0.25
R8765:Alox15	UTSW	11	70349993	missense	probably benign	0.00
R9256:Alox15	UTSW	11	70345544	missense	possibly damaging	0.49
R9361:Alox15	UTSW	11	70350853	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCTTTTCCAGCAGGTCACAG -3'
(R):5'- AAGACATCCAGAGTGTCTCCCTCC -3'

Sequencing Primer
(F):5'- GTTAATAACGGTGTCCATTGTCC -3'
(R):5'- CCGTGGTTGAAGACTCTCAAG -3'

Posted On

2013-07-30