Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01364:Alox15'

75878

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Alox15

Ensembl Gene

ENSMUSG00000018924

Gene Name

arachidonate 15-lipoxygenase

Synonyms

Alox12l, 12-LO, L-12LO

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01364

Quality Score

Status

Chromosome

Chromosomal Location

70234978-70242857 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70235992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 525 (Q525R)

Ref Sequence

ENSEMBL: ENSMUSP00000019068 (fasta)

Gene Model

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

AlphaFold

P39654

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019068
AA Change: Q525R

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000019068
Gene: ENSMUSG00000018924
AA Change: Q525R

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	C	A	4: 40,181,380 (GRCm39)		probably null	Het
Acot6	T	C	12: 84,147,840 (GRCm39)	V32A	possibly damaging	Het
Aff3	A	T	1: 38,574,762 (GRCm39)	L73I	probably damaging	Het
Aldh1l2	C	A	10: 83,328,531 (GRCm39)	D729Y	probably damaging	Het
Atr	T	C	9: 95,747,677 (GRCm39)	Y320H	probably benign	Het
Atxn3	C	T	12: 101,900,682 (GRCm39)		probably benign	Het
Caprin2	C	A	6: 148,774,526 (GRCm39)	S262I	probably benign	Het
Ccar1	T	C	10: 62,612,653 (GRCm39)		probably null	Het
Ccdc14	T	A	16: 34,543,583 (GRCm39)	L647H	probably damaging	Het
Cd300lf	T	C	11: 115,017,176 (GRCm39)	D49G	probably benign	Het
Csmd2	A	G	4: 128,308,081 (GRCm39)	T1280A	probably benign	Het
Ddb1	T	C	19: 10,605,024 (GRCm39)		probably null	Het
Dnah9	A	G	11: 66,046,285 (GRCm39)	Y88H	probably damaging	Het
Enpp1	T	C	10: 24,540,512 (GRCm39)	T351A	probably damaging	Het
Evi2b	T	A	11: 79,407,449 (GRCm39)	Y42F	probably benign	Het
Fdps	A	T	3: 89,001,577 (GRCm39)	C274*	probably null	Het
Flnb	A	C	14: 7,934,562 (GRCm38)		probably null	Het
Herc1	T	A	9: 66,306,643 (GRCm39)	V917E	probably benign	Het
Hmcn2	C	T	2: 31,251,826 (GRCm39)	Q854*	probably null	Het
Hmgxb3	T	C	18: 61,279,506 (GRCm39)	Y769C	probably damaging	Het
Hps3	G	T	3: 20,057,469 (GRCm39)	Q772K	possibly damaging	Het
Ifnab	T	C	4: 88,608,987 (GRCm39)	S160G	probably damaging	Het
Kalrn	T	C	16: 34,082,999 (GRCm39)	E652G	probably damaging	Het
Kat6a	T	C	8: 23,397,716 (GRCm39)	L255S	probably damaging	Het
Kbtbd7	T	A	14: 79,665,486 (GRCm39)	D439E	possibly damaging	Het
Kcnn4	T	C	7: 24,081,128 (GRCm39)	F289L	probably benign	Het
Mapk6	A	C	9: 75,296,072 (GRCm39)	D475E	possibly damaging	Het
Msh5	A	G	17: 35,247,745 (GRCm39)	V825A	possibly damaging	Het
Mst1	A	G	9: 107,958,800 (GRCm39)	I111V	probably benign	Het
Myo1h	T	A	5: 114,486,500 (GRCm39)	I586N	probably damaging	Het
Or4k36	G	T	2: 111,146,015 (GRCm39)	A64S	probably damaging	Het
Panx1	C	T	9: 14,932,761 (GRCm39)	V80M	probably damaging	Het
Polr3b	T	A	10: 84,531,533 (GRCm39)	I803N	probably benign	Het
Rasa4	T	C	5: 136,124,425 (GRCm39)	V158A	possibly damaging	Het
Rbp3	T	A	14: 33,676,145 (GRCm39)	M31K	possibly damaging	Het
Rpl3l	A	G	17: 24,951,404 (GRCm39)	K154E	probably benign	Het
Sec24a	A	T	11: 51,604,356 (GRCm39)		probably null	Het
Sox5	C	T	6: 144,062,198 (GRCm39)	M151I	probably damaging	Het
Sun1	T	A	5: 139,220,496 (GRCm39)	L290Q	probably damaging	Het
Tm9sf2	T	A	14: 122,380,872 (GRCm39)	I155N	probably damaging	Het
Trmt9b	A	G	8: 36,979,501 (GRCm39)	K368R	probably benign	Het
Tuft1	A	G	3: 94,542,810 (GRCm39)		probably benign	Het
Ubash3b	A	G	9: 40,929,311 (GRCm39)		probably null	Het
Vwa1	A	G	4: 155,855,200 (GRCm39)		probably null	Het
Wnk1	T	C	6: 119,914,372 (GRCm39)	E80G	probably damaging	Het
Xpot	C	A	10: 121,440,399 (GRCm39)	A611S	probably benign	Het

Other mutations in Alox15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02231:Alox15	APN	11	70,240,382 (GRCm39)	missense	probably benign
IGL02403:Alox15	APN	11	70,236,727 (GRCm39)	missense	probably damaging	0.96
IGL03377:Alox15	APN	11	70,240,488 (GRCm39)	missense	probably damaging	1.00
R0011:Alox15	UTSW	11	70,240,422 (GRCm39)	missense	possibly damaging	0.66
R0013:Alox15	UTSW	11	70,240,461 (GRCm39)	missense	possibly damaging	0.95
R0267:Alox15	UTSW	11	70,236,979 (GRCm39)	missense	probably damaging	0.99
R0646:Alox15	UTSW	11	70,236,450 (GRCm39)	nonsense	probably null
R0726:Alox15	UTSW	11	70,241,021 (GRCm39)	missense	probably damaging	1.00
R1553:Alox15	UTSW	11	70,240,458 (GRCm39)	missense	possibly damaging	0.46
R1687:Alox15	UTSW	11	70,240,744 (GRCm39)	missense	probably benign	0.10
R1848:Alox15	UTSW	11	70,241,578 (GRCm39)	missense	probably damaging	0.99
R1974:Alox15	UTSW	11	70,240,799 (GRCm39)	missense	probably benign	0.06
R3113:Alox15	UTSW	11	70,235,703 (GRCm39)	missense	probably benign	0.20
R4551:Alox15	UTSW	11	70,235,422 (GRCm39)	missense	probably benign
R5511:Alox15	UTSW	11	70,240,808 (GRCm39)	missense	probably benign	0.00
R5809:Alox15	UTSW	11	70,241,708 (GRCm39)	missense	probably damaging	1.00
R6479:Alox15	UTSW	11	70,236,011 (GRCm39)	missense	probably damaging	0.98
R6800:Alox15	UTSW	11	70,235,645 (GRCm39)	critical splice donor site	probably null
R7243:Alox15	UTSW	11	70,241,540 (GRCm39)	missense	probably null	1.00
R7253:Alox15	UTSW	11	70,236,724 (GRCm39)	missense	probably damaging	1.00
R7644:Alox15	UTSW	11	70,236,368 (GRCm39)	missense	probably null	1.00
R7712:Alox15	UTSW	11	70,241,079 (GRCm39)	critical splice acceptor site	probably null
R7823:Alox15	UTSW	11	70,235,494 (GRCm39)	missense	possibly damaging	0.86
R8192:Alox15	UTSW	11	70,241,736 (GRCm39)	missense	probably benign	0.38
R8410:Alox15	UTSW	11	70,235,753 (GRCm39)	missense	probably benign	0.25
R8765:Alox15	UTSW	11	70,240,819 (GRCm39)	missense	probably benign	0.00
R9256:Alox15	UTSW	11	70,236,370 (GRCm39)	missense	possibly damaging	0.49
R9361:Alox15	UTSW	11	70,241,679 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-10-07