Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02657:Alox12'

302393

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Alox12

Ensembl Gene

ENSMUSG00000000320

Gene Name

arachidonate 12-lipoxygenase

Synonyms

P-12LO, 9930022G08Rik, Alox12p

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

IGL02657

Quality Score

Status

Chromosome

Chromosomal Location

70241457-70255353 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70247278 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 410 (D410E)

Ref Sequence

ENSEMBL: ENSMUSP00000000329 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000329] [ENSMUST00000108574]

AlphaFold

P39655

Predicted Effect

probably benign
Transcript: ENSMUST00000000329
AA Change: D410E

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

SMART Domains

Protein: ENSMUSP00000000329
Gene: ENSMUSG00000000320
AA Change: D410E

Domain	Start	End	E-Value	Type
LH2	2	111	9.78e-40	SMART
Pfam:Lipoxygenase	172	650	5.1e-63	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108574

SMART Domains

Protein: ENSMUSP00000104214
Gene: ENSMUSG00000000320

Domain	Start	End	E-Value	Type
LH2	2	111	9.78e-40	SMART
Pfam:Lipoxygenase	121	211	8.1e-9	PFAM
Pfam:Lipoxygenase	210	390	3e-61	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for a targeted null mutation exhibit increased basal transepidermal water loss and hypersensitivity to adenosine 5'-diphosphate-induced platelet aggregation and mortality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afmid	G	A	11: 117,834,822	V120M	possibly damaging	Het
Aldh1l1	T	C	6: 90,590,794	L680P	probably damaging	Het
Amt	T	A	9: 108,301,380	V365E	probably damaging	Het
Ano9	A	G	7: 141,107,440	S321P	probably damaging	Het
Atp2c2	A	T	8: 119,753,032	I767F	probably damaging	Het
Bag1	A	T	4: 40,936,643	Y338N	probably benign	Het
Bcr	T	A	10: 75,154,964	D767E	probably benign	Het
Chfr	A	T	5: 110,154,839	Q350L	probably damaging	Het
Cops3	A	T	11: 59,830,217	L124H	probably damaging	Het
Ddx60	T	C	8: 61,984,115	Y988H	probably benign	Het
Dnajc2	A	T	5: 21,770,481		probably benign	Het
Dym	C	T	18: 75,082,456	Q238*	probably null	Het
Fam126b	A	T	1: 58,535,402	W327R	probably damaging	Het
Fbn1	A	T	2: 125,352,025	C1341S	possibly damaging	Het
Fryl	G	T	5: 73,054,860	N2308K	probably benign	Het
Gbp2b	G	T	3: 142,604,112	R221L	probably damaging	Het
Gm4070	T	C	7: 105,896,765	K2360R	probably damaging	Het
Gpat2	A	G	2: 127,427,331	N8S	probably benign	Het
Ift52	A	G	2: 163,045,215	D379G	probably damaging	Het
Inhbe	C	A	10: 127,350,776	L178F	probably damaging	Het
Ipo5	T	C	14: 120,943,800	Y913H	possibly damaging	Het
Kif21b	T	A	1: 136,172,230	D1507E	possibly damaging	Het
Lnx2	A	G	5: 147,028,174	V413A	probably damaging	Het
Lrrc40	C	A	3: 158,036,773	F16L	probably damaging	Het
Magi2	A	G	5: 19,227,583	K99E	probably damaging	Het
Me3	A	G	7: 89,846,253	I357M	probably benign	Het
Med30	A	G	15: 52,719,365	Y66C	probably benign	Het
Mief2	A	T	11: 60,730,957	S118C	probably damaging	Het
Mylip	A	G	13: 45,391,246	S49G	probably benign	Het
Ncoa7	T	A	10: 30,652,976	D107V	probably damaging	Het
Nvl	C	A	1: 181,106,976	V655F	probably damaging	Het
Olfml2b	C	T	1: 170,681,076	T501I	probably benign	Het
Ormdl2	T	C	10: 128,820,317	I40V	probably benign	Het
Pde6b	G	T	5: 108,420,276		probably benign	Het
Ralgapa1	A	C	12: 55,673,507	L1785W	probably damaging	Het
Rnf112	A	T	11: 61,450,252		probably null	Het
Sema3c	T	A	5: 17,662,974	Y128N	probably damaging	Het
Sema3c	A	T	5: 17,576,868	M1L	possibly damaging	Het
Sema4b	G	A	7: 80,217,041	G255D	probably damaging	Het
Setd1a	C	T	7: 127,795,825		probably benign	Het
Sirpb1a	A	C	3: 15,417,051	S72R	possibly damaging	Het
Slu7	T	A	11: 43,442,022		probably null	Het
Spata19	T	C	9: 27,397,980	V59A	probably benign	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Suclg1	T	A	6: 73,260,521	V83E	probably damaging	Het
Syncrip	G	T	9: 88,456,404	R536S	probably benign	Het
Tap2	T	C	17: 34,205,458	V55A	probably damaging	Het
Tekt4	T	C	17: 25,473,758	I186T	possibly damaging	Het
Trpc6	C	A	9: 8,643,601	D462E	possibly damaging	Het
Ubqln3	T	G	7: 104,141,963	T307P	probably damaging	Het
Vmn1r64	A	T	7: 5,883,728	I272K	probably benign	Het
Xpr1	T	C	1: 155,290,280	T574A	probably benign	Het
Zfc3h1	A	G	10: 115,411,954	T1021A	possibly damaging	Het
Zfp512	A	T	5: 31,471,157	H159L	probably damaging	Het

Other mutations in Alox12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:Alox12	APN	11	70254549	missense	probably benign	0.12
IGL01629:Alox12	APN	11	70242834	missense	probably damaging	1.00
IGL02966:Alox12	APN	11	70250085	missense	probably damaging	1.00
R0243:Alox12	UTSW	11	70242716	missense	possibly damaging	0.82
R0357:Alox12	UTSW	11	70242536	missense	probably damaging	1.00
R0394:Alox12	UTSW	11	70245935	missense	probably damaging	1.00
R0422:Alox12	UTSW	11	70254558	missense	probably damaging	1.00
R0564:Alox12	UTSW	11	70252836	missense	probably damaging	0.99
R0751:Alox12	UTSW	11	70246950	missense	probably benign	0.00
R1539:Alox12	UTSW	11	70253243	splice site	probably null
R1562:Alox12	UTSW	11	70250165	missense	probably damaging	0.97
R2165:Alox12	UTSW	11	70242572	splice site	probably null
R2295:Alox12	UTSW	11	70242465	missense	probably benign	0.45
R4073:Alox12	UTSW	11	70247310	missense	probably damaging	1.00
R4558:Alox12	UTSW	11	70253063	missense	probably benign	0.03
R5081:Alox12	UTSW	11	70255314	splice site	probably null
R5198:Alox12	UTSW	11	70254417	missense	probably damaging	1.00
R5507:Alox12	UTSW	11	70254412	missense	possibly damaging	0.87
R5793:Alox12	UTSW	11	70243053	missense	probably benign	0.00
R5832:Alox12	UTSW	11	70253280	missense	probably damaging	0.98
R5975:Alox12	UTSW	11	70242783	missense	possibly damaging	0.89
R5984:Alox12	UTSW	11	70247055	missense	possibly damaging	0.83
R5988:Alox12	UTSW	11	70251587	missense	probably benign	0.05
R6030:Alox12	UTSW	11	70254591	missense	possibly damaging	0.72
R6030:Alox12	UTSW	11	70254591	missense	possibly damaging	0.72
R6248:Alox12	UTSW	11	70253110	missense	probably damaging	1.00
R6505:Alox12	UTSW	11	70250204	missense	probably damaging	1.00
R7320:Alox12	UTSW	11	70254472	missense	probably benign	0.02
R7595:Alox12	UTSW	11	70242404	missense	probably damaging	1.00
R7972:Alox12	UTSW	11	70242687	missense	probably benign	0.15
R8787:Alox12	UTSW	11	70253320	missense	probably benign	0.01
R8845:Alox12	UTSW	11	70247051	missense	probably damaging	1.00
R9051:Alox12	UTSW	11	70247327	missense	possibly damaging	0.93
R9055:Alox12	UTSW	11	70253077	missense	probably damaging	0.99
R9730:Alox12	UTSW	11	70250094	missense	probably benign	0.21
R9784:Alox12	UTSW	11	70252839	missense	possibly damaging	0.91
X0025:Alox12	UTSW	11	70255224	missense	probably damaging	0.96
Z1177:Alox12	UTSW	11	70251479	missense	possibly damaging	0.66

Posted On

2015-04-16