Mutagenetix > Incidental Mutation

Incidental Mutation 'R0564:Alox12'

46079

Institutional Source

Beutler Lab

Gene Symbol

Alox12

Ensembl Gene

ENSMUSG00000000320

Gene Name

arachidonate 12-lipoxygenase

Synonyms

P-12LO, 9930022G08Rik, Alox12p

MMRRC Submission

038755-MU

Accession Numbers

Essential gene?

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

Stock #

R0564 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70241457-70255353 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70252836 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 202 (D202V)

Ref Sequence

ENSEMBL: ENSMUSP00000104214 (fasta)

Gene Model

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

AlphaFold

P39655

Predicted Effect

probably damaging
Transcript: ENSMUST00000000329
AA Change: D202V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000000329
Gene: ENSMUSG00000000320
AA Change: D202V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000108574
AA Change: D202V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104214
Gene: ENSMUSG00000000320
AA Change: D202V

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

Meta Mutation Damage Score

0.7883

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

98% (52/53)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl5	A	G	10: 80,344,847	V127A	probably damaging	Het
Ankib1	A	G	5: 3,729,655	Y405H	probably damaging	Het
Apbb2	A	T	5: 66,452,250	M18K	probably damaging	Het
Atad2	C	A	15: 58,125,833		probably benign	Het
BC117090	A	T	16: 36,322,984	Y34*	probably null	Het
Birc6	T	A	17: 74,625,243		probably benign	Het
Ccdc126	T	C	6: 49,334,142	M28T	possibly damaging	Het
Cdc16	A	T	8: 13,781,618	D617V	probably damaging	Het
Cep135	G	A	5: 76,615,710	E516K	probably damaging	Het
Cep135	G	T	5: 76,638,949	M1081I	probably benign	Het
Col6a3	A	C	1: 90,807,734	V731G	probably damaging	Het
Cwc27	C	A	13: 104,661,357	E365*	probably null	Het
D230025D16Rik	T	A	8: 105,239,971		probably benign	Het
Dip2b	C	A	15: 100,162,719	Y258*	probably null	Het
Dnah17	A	G	11: 118,082,981	V1900A	probably damaging	Het
Dpysl2	A	T	14: 66,805,446		probably benign	Het
Dync2h1	A	T	9: 7,139,432	L1401Q	probably damaging	Het
Esf1	A	T	2: 140,158,586	Y427N	possibly damaging	Het
Fbln1	T	A	15: 85,227,107	V154D	probably benign	Het
Frem2	A	G	3: 53,656,109	F326L	probably damaging	Het
Gm4922	T	A	10: 18,784,065	N303I	possibly damaging	Het
Hist1h1t	G	T	13: 23,696,324	K153N	possibly damaging	Het
Iigp1	G	A	18: 60,390,451	V214M	probably damaging	Het
Luzp2	A	G	7: 54,835,962	K2E	probably damaging	Het
Mcc	A	G	18: 44,468,507	L410P	probably damaging	Het
Mfn2	A	G	4: 147,883,255	F452S	probably damaging	Het
Mib2	C	T	4: 155,659,460	G42S	probably damaging	Het
Micu2	A	G	14: 57,919,374	F335L	possibly damaging	Het
Mpp3	T	G	11: 102,005,347	K450T	possibly damaging	Het
Mtmr4	T	A	11: 87,598,888	V79E	probably damaging	Het
Nlrp4b	A	G	7: 10,714,658	I263V	probably benign	Het
Olfr551	T	C	7: 102,588,531	I71V	probably benign	Het
Olfr809	T	G	10: 129,776,136	V74G	probably damaging	Het
Pdk1	G	A	2: 71,880,039	W113*	probably null	Het
Phxr4	A	T	9: 13,431,697		probably benign	Het
Rad51ap2	T	A	12: 11,457,896	H606Q	probably benign	Het
Ralgapa1	A	T	12: 55,782,885	I187K	possibly damaging	Het
Rps27	A	G	3: 90,212,923		probably benign	Het
Sema3e	T	A	5: 14,236,085		probably null	Het
Sh2d3c	G	A	2: 32,753,052	C749Y	probably damaging	Het
Siah2	T	C	3: 58,676,235	D210G	probably benign	Het
Smap2	G	A	4: 120,976,977	P155S	probably benign	Het
Snrk	C	T	9: 122,166,544	T463M	possibly damaging	Het
Tm9sf3	A	G	19: 41,245,525		probably benign	Het
Tmem132d	C	T	5: 127,784,778	E760K	probably damaging	Het
Tmem184c	A	T	8: 77,606,160		probably null	Het
Tmem235	A	T	11: 117,860,848	I33F	possibly damaging	Het
Tmem267	A	T	13: 119,492,639		probably null	Het
Top1	G	A	2: 160,714,265	R548Q	probably damaging	Het
Trio	T	C	15: 27,805,822	N527D	probably damaging	Het
Upf3a	A	G	8: 13,795,656	K252E	probably benign	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
IGL02657:Alox12	APN	11	70247278	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- ACTTAGACTATCCTACGCTCAGCCC -3'
(R):5'- GACTTTGAATGGACGTTGAAGGCGG -3'

Sequencing Primer
(F):5'- GCTCAGCCCAGGTTTATTTTTG -3'
(R):5'- CGTTGAAGGCGGGGTAAG -3'

Posted On

2013-06-11