Mutagenetix > Incidental Mutations

Incidental Mutation 'R7712:Alox15'

594696

Institutional Source

Beutler Lab

Gene Symbol

Alox15

Ensembl Gene

ENSMUSG00000018924

Gene Name

arachidonate 15-lipoxygenase

Synonyms

L-12LO, Alox12l, 12-LO

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7712 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70344152-70352031 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 70350253 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000019068 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000019068

SMART Domains

Protein: ENSMUSP00000019068
Gene: ENSMUSG00000018924

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	C	5: 114,165,738	D74A	probably benign	Het
Ano5	A	G	7: 51,573,057	T455A	probably benign	Het
Ano5	T	G	7: 51,590,655	I827S	probably damaging	Het
Arid1a	G	A	4: 133,752,611	A334V	probably benign	Het
Atp13a4	A	G	16: 29,459,487	C298R		Het
Atp4a	T	A	7: 30,715,553	S256T	probably damaging	Het
Atp6v1c1	G	A	15: 38,686,805	V215I	probably benign	Het
Bbs9	T	A	9: 22,670,813	F600L	probably benign	Het
Bmp8b	A	T	4: 123,124,464	Y376F	possibly damaging	Het
Cacna2d1	A	T	5: 16,362,349	D986V	probably damaging	Het
Ccdc162	A	G	10: 41,627,227	F973S	possibly damaging	Het
Ccdc177	G	A	12: 80,757,938	Q521*	probably null	Het
Cd209b	T	A	8: 3,923,299	E158D	possibly damaging	Het
Cdk14	G	A	5: 5,380,061	T22I	possibly damaging	Het
Chl1	A	T	6: 103,711,102	I968F	possibly damaging	Het
Cnot7	T	C	8: 40,494,081	Y255C	probably damaging	Het
Col4a2	T	A	8: 11,425,376	L600H	probably benign	Het
Cpne7	C	A	8: 123,124,181	L129M	probably damaging	Het
Cpxm2	G	T	7: 132,154,378	P79Q	possibly damaging	Het
Dhx9	T	A	1: 153,465,001	N631I	probably benign	Het
Dmxl1	T	C	18: 49,893,461	S1879P	probably damaging	Het
Dnhd1	T	A	7: 105,651,624	F63I	probably benign	Het
Dok7	A	G	5: 35,066,522	N98S	probably damaging	Het
Fgd2	A	G	17: 29,376,912	T515A	probably benign	Het
Fmo1	T	C	1: 162,836,135	D275G	probably benign	Het
Gm5796	A	G	14: 4,034,759	Y90C	probably damaging	Het
H60b	C	A	10: 22,285,738	H42N	possibly damaging	Het
Hipk2	A	G	6: 38,703,634	S924P	probably benign	Het
Hpf1	C	A	8: 60,905,579	S27*	probably null	Het
Idua	T	G	5: 108,681,522	D443E	probably benign	Het
Lamc2	C	T	1: 153,133,611	G816D	possibly damaging	Het
Lgi3	T	A	14: 70,531,111	V16E	unknown	Het
Lpar1	T	A	4: 58,486,795	M159L	probably benign	Het
Magi2	A	G	5: 20,550,282	D618G	possibly damaging	Het
Man2b2	C	G	5: 36,810,314	Q903H	probably benign	Het
March7	A	T	2: 60,234,990	K537*	probably null	Het
Mcoln1	T	C	8: 3,505,873	F56S	probably damaging	Het
Myh7	C	G	14: 54,988,801	D461H	probably damaging	Het
Myo1b	A	T	1: 51,793,677	M383K	probably damaging	Het
Olfr160	T	C	9: 37,712,133	I49V	probably damaging	Het
Olfr161	T	C	16: 3,592,431	F12L	probably damaging	Het
Olfr360	A	T	2: 37,068,904	T200S	probably damaging	Het
Pars2	T	A	4: 106,654,079	Y353N	probably damaging	Het
Pcdha8	A	C	18: 36,992,684	D73A	possibly damaging	Het
Pcdhga8	C	T	18: 37,727,049	T386M	possibly damaging	Het
Pdzd2	G	T	15: 12,407,336	T346N	probably damaging	Het
Pik3c2b	A	G	1: 133,085,611	Q781R	probably damaging	Het
Pp2d1	T	A	17: 53,508,290	T469S	possibly damaging	Het
Sectm1a	G	A	11: 121,068,805	L166F	probably damaging	Het
Sgms1	T	A	19: 32,142,769	M246L	probably benign	Het
Shroom3	G	A	5: 92,950,947	G1429S	probably benign	Het
Snx17	T	A	5: 31,195,460	F101Y	probably damaging	Het
Sowahb	C	T	5: 93,043,381	S493N	probably benign	Het
Spc25	T	A	2: 69,206,137	R7S	unknown	Het
Sult2b1	A	G	7: 45,730,196	I308T	probably benign	Het
Tkt	A	G	14: 30,558,806	N65D	probably benign	Het
Ttc5	A	T	14: 50,773,312	S221T	probably benign	Het
Ubr5	G	A	15: 37,979,832	A2434V	probably null	Het
Wipf1	A	C	2: 73,444,461	S55R	probably damaging	Het
Zdbf2	T	C	1: 63,305,371	S970P	possibly damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240		probably benign	Het
Zfp362	A	T	4: 128,777,410	H313Q	probably benign	Het
Zfy2	T	A	Y: 2,121,420	I158F	probably benign	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
R0726:Alox15	UTSW	11	70350195	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TCCTTCAGGGAAGAATGGGG -3'
(R):5'- AGACATCCAGAGTGTCTCCC -3'

Sequencing Primer
(F):5'- AGGATGTGACAGTTATACTTAGAACC -3'
(R):5'- AGAGTGTCTCCCTCCTCGG -3'

Posted On

2019-11-12