Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02231:Alox15'

285709

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Alox15

Ensembl Gene

ENSMUSG00000018924

Gene Name

arachidonate 15-lipoxygenase

Synonyms

L-12LO, Alox12l, 12-LO

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02231

Quality Score

Status

Chromosome

Chromosomal Location

70344152-70352031 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 70349556 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 266 (D266E)

Ref Sequence

ENSEMBL: ENSMUSP00000019068 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000019068
AA Change: D266E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000019068
Gene: ENSMUSG00000018924
AA Change: D266E

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

Coding Region Coverage

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	G	A	11: 78,279,896	G1647D	probably benign	Het
Alcam	T	A	16: 52,274,050		probably benign	Het
Atcay	A	T	10: 81,210,548	V314E	probably damaging	Het
Atp8b1	C	T	18: 64,550,384	G758R	possibly damaging	Het
Cacna2d4	T	A	6: 119,277,908		probably benign	Het
Celsr3	T	C	9: 108,842,510	V2429A	probably damaging	Het
Clspn	T	G	4: 126,559,228	D11E	probably damaging	Het
Cnot3	A	G	7: 3,658,210	T573A	probably benign	Het
Cyp2d34	A	T	15: 82,618,606	S140T	probably benign	Het
Edem1	A	G	6: 108,828,888	D50G	probably benign	Het
Emilin3	G	A	2: 160,908,515	T438I	probably damaging	Het
Etfdh	C	T	3: 79,618,393	V173I	probably damaging	Het
Fat2	T	C	11: 55,281,092	T2932A	probably damaging	Het
Fcrl1	G	A	3: 87,385,162	E154K	possibly damaging	Het
Fcrl1	A	T	3: 87,385,163	E154V	probably damaging	Het
G3bp1	T	A	11: 55,495,447	L244*	probably null	Het
Itgae	A	T	11: 73,090,622	K2M	possibly damaging	Het
Kcnq2	T	C	2: 181,081,715	I654V	probably benign	Het
Ksr2	C	T	5: 117,500,776	R82C	probably damaging	Het
Lrig3	A	T	10: 125,997,172	D305V	probably damaging	Het
Me1	T	C	9: 86,611,855	K322E	possibly damaging	Het
Med12l	T	A	3: 59,245,882	D1109E	probably damaging	Het
Mest	A	G	6: 30,740,773	K73E	possibly damaging	Het
Nup155	T	G	15: 8,144,064	L881R	probably damaging	Het
Ocln	A	T	13: 100,541,114	S2T	probably damaging	Het
Oosp3	T	C	19: 11,699,439	L54S	probably damaging	Het
Pkp3	G	A	7: 141,084,238	E443K	probably damaging	Het
Plk2	T	A	13: 110,400,069	C632S	probably benign	Het
Ptk6	C	T	2: 181,197,001	V320I	probably damaging	Het
Ptprt	A	T	2: 162,238,060	I273N	probably damaging	Het
Ptprt	A	G	2: 162,278,046		probably null	Het
Rab3gap2	T	C	1: 185,266,898		probably benign	Het
Rabgef1	G	A	5: 130,211,975	A312T	probably damaging	Het
Rabl6	T	A	2: 25,598,184	K109N	probably benign	Het
Rbp7	C	T	4: 149,454,877		probably null	Het
Reg3a	C	T	6: 78,382,241	H75Y	possibly damaging	Het
Rnf123	G	T	9: 108,066,399	P546T	probably benign	Het
Rnmt	C	A	18: 68,314,081	C345*	probably null	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Slc14a2	C	T	18: 78,209,021	S25N	possibly damaging	Het
Spata16	G	T	3: 26,913,264	G388W	probably damaging	Het
Speg	C	T	1: 75,423,387	R2493W	probably damaging	Het
Thada	T	A	17: 84,428,697	D970V	probably damaging	Het
Tmem184c	A	G	8: 77,604,812	Y103H	probably damaging	Het
Ttn	A	T	2: 76,798,096	D12827E	probably damaging	Het
Utp20	A	G	10: 88,791,168	L976S	probably damaging	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het
Zfp936	T	A	7: 43,187,485		probably null	Het

Other mutations in Alox15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01364:Alox15	APN	11	70345166	missense	possibly damaging	0.95
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
R7712:Alox15	UTSW	11	70350253	critical splice acceptor site	probably null

Posted On

2015-04-16