Mutagenetix > Incidental Mutation

Incidental Mutation 'R5975:Alox12'

471705

Institutional Source

Beutler Lab

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: 0.100) question?

Stock #

R5975 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70241457-70255353 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 70242783 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 572 (V572L)

Ref Sequence

ENSEMBL: ENSMUSP00000000329 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000329] [ENSMUST00000021180] [ENSMUST00000021181] [ENSMUST00000040428] [ENSMUST00000102569] [ENSMUST00000108575] [ENSMUST00000108576] [ENSMUST00000108577] [ENSMUST00000108578] [ENSMUST00000108579] [ENSMUST00000141880] [ENSMUST00000125752] [ENSMUST00000176116] [ENSMUST00000176268]

AlphaFold

P39655

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000329
AA Change: V572L

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000000329
Gene: ENSMUSG00000000320
AA Change: V572L

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: ENSMUST00000021180

SMART Domains

Protein: ENSMUSP00000021180
Gene: ENSMUSG00000020831

Domain	Start	End	E-Value	Type
Blast:SANT	38	69	1e-16	BLAST
SCOP:d1ba5__	41	59	9e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000021181

SMART Domains

Protein: ENSMUSP00000021181
Gene: ENSMUSG00000020831

Domain	Start	End	E-Value	Type
SANT	38	83	7.29e-1	SMART
low complexity region	106	129	N/A	INTRINSIC
low complexity region	135	150	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000040428

SMART Domains

Protein: ENSMUSP00000048271
Gene: ENSMUSG00000093989

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	65	87	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102569

SMART Domains

Protein: ENSMUSP00000099629
Gene: ENSMUSG00000020831

Domain	Start	End	E-Value	Type
low complexity region	72	95	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108575

SMART Domains

Protein: ENSMUSP00000104215
Gene: ENSMUSG00000020831

Domain	Start	End	E-Value	Type
low complexity region	72	95	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108576

SMART Domains

Protein: ENSMUSP00000104216
Gene: ENSMUSG00000020831

Domain	Start	End	E-Value	Type
SANT	38	83	7.29e-1	SMART
low complexity region	106	129	N/A	INTRINSIC
low complexity region	169	183	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108577

SMART Domains

Protein: ENSMUSP00000104218
Gene: ENSMUSG00000020831

Domain	Start	End	E-Value	Type
low complexity region	72	95	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108578

SMART Domains

Protein: ENSMUSP00000104219
Gene: ENSMUSG00000020831

Domain	Start	End	E-Value	Type
SANT	38	83	7.29e-1	SMART
low complexity region	106	129	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108579

SMART Domains

Protein: ENSMUSP00000104220
Gene: ENSMUSG00000020831

Domain	Start	End	E-Value	Type
low complexity region	72	95	N/A	INTRINSIC
low complexity region	101	116	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150504

Predicted Effect

probably benign
Transcript: ENSMUST00000141880

SMART Domains

Protein: ENSMUSP00000135383
Gene: ENSMUSG00000093989

Domain	Start	End	E-Value	Type
transmembrane domain	38	60	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125752

Predicted Effect

probably benign
Transcript: ENSMUST00000176116

SMART Domains

Protein: ENSMUSP00000135134
Gene: ENSMUSG00000040904

Domain	Start	End	E-Value	Type
transmembrane domain	38	60	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176268

SMART Domains

Protein: ENSMUSP00000135088
Gene: ENSMUSG00000040904

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	65	87	N/A	INTRINSIC

Meta Mutation Damage Score

0.1604

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

98% (80/82)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	T	3: 36,969,221	T2233I	possibly damaging	Het
9430038I01Rik	T	C	7: 137,387,292		probably benign	Het
Abhd14a	A	T	9: 106,443,951		probably null	Het
Actn2	T	C	13: 12,340,497	N2D	probably benign	Het
Adcy9	T	C	16: 4,311,567	E722G	probably damaging	Het
Ankrd11	T	C	8: 122,889,749	I2434V	possibly damaging	Het
Anks1	T	A	17: 27,991,447		probably null	Het
Bpifa3	T	A	2: 154,136,321	S148T	probably damaging	Het
Bptf	C	T	11: 107,035,864		probably benign	Het
Cabin1	A	T	10: 75,657,839	L1655H	probably damaging	Het
Ccdc13	G	T	9: 121,827,235	Q171K	probably benign	Het
Ccdc33	T	A	9: 58,117,478	Q155L	possibly damaging	Het
Cckbr	G	A	7: 105,470,619	G280E	probably benign	Het
Cdk11b	G	A	4: 155,648,240		probably benign	Het
Celsr1	G	T	15: 85,919,038		probably null	Het
Cenpj	A	T	14: 56,564,066	I150N	possibly damaging	Het
Cep135	C	A	5: 76,640,890	A1110E	possibly damaging	Het
Chit1	C	A	1: 134,146,626	H224N	probably damaging	Het
Cul5	T	C	9: 53,622,793	R680G	probably damaging	Het
Dhx58	C	A	11: 100,702,209	R224L	probably damaging	Het
Dlx1	C	A	2: 71,531,009	N122K	probably damaging	Het
Dnah5	A	C	15: 28,234,282	D279A	probably damaging	Het
Enpp3	A	G	10: 24,774,842	W799R	probably benign	Het
Ercc5	A	G	1: 44,173,406	T675A	probably benign	Het
Farsa	T	A	8: 84,864,432		probably null	Het
Fbxw15	A	T	9: 109,555,252	V397D	probably damaging	Het
Fcrl5	G	A	3: 87,442,103	V62I	probably benign	Het
Gart	A	G	16: 91,624,336	S815P	probably damaging	Het
Glrx5	A	G	12: 105,040,323	N111S	possibly damaging	Het
Gm10845	A	G	14: 79,863,174		noncoding transcript	Het
Gm11639	A	G	11: 104,687,549		probably benign	Het
Gm8882	A	G	6: 132,362,073	S61P	unknown	Het
Gm9925	T	A	18: 74,065,516		probably benign	Het
Gsdme	T	C	6: 50,227,359	N206S	probably benign	Het
Helz2	T	C	2: 181,231,050	S2459G	probably benign	Het
Hnrnpul1	A	G	7: 25,754,359	S93P	possibly damaging	Het
Ints2	A	T	11: 86,226,748	I716N	possibly damaging	Het
Lmnb2	G	A	10: 80,905,128	Q248*	probably null	Het
Map3k7cl	A	G	16: 87,570,321	I32V	probably benign	Het
Mfsd4b4	A	T	10: 39,892,470	I255N	probably benign	Het
Myh6	A	G	14: 54,950,508	I1163T	probably benign	Het
Nphs1	A	T	7: 30,466,115	T636S	possibly damaging	Het
Ntsr1	T	A	2: 180,500,788	L124Q	probably damaging	Het
Obscn	C	T	11: 59,122,619		probably null	Het
P4ha2	G	A	11: 54,126,412		probably null	Het
Pcdha9	T	A	18: 36,999,111	V411D	probably benign	Het
Pkhd1l1	A	T	15: 44,525,988	I1380F	probably damaging	Het
Plekha1	T	C	7: 130,892,253	V106A	probably benign	Het
Plekhm1	A	T	11: 103,376,691	V818E	possibly damaging	Het
Pprc1	T	G	19: 46,065,370		probably benign	Het
Prmt9	T	C	8: 77,561,018		probably benign	Het
Rab26	T	C	17: 24,530,399	N193D	possibly damaging	Het
Rnf111	A	G	9: 70,429,580	S942P	probably damaging	Het
Scgb2b18	T	C	7: 33,173,225	T52A	probably damaging	Het
Syt3	C	T	7: 44,392,763	Q349*	probably null	Het
Tas2r107	T	C	6: 131,659,780	N102S	probably benign	Het
Tas2r126	T	A	6: 42,435,000	Y156N	possibly damaging	Het
Tcaf2	A	T	6: 42,642,778	I105N	probably benign	Het
Tet1	A	C	10: 62,879,773	M81R	probably benign	Het
Togaram2	T	C	17: 71,729,205	Y897H	probably damaging	Het
Trerf1	A	T	17: 47,314,271		noncoding transcript	Het
Ttn	G	A	2: 76,761,235	T12703I	probably damaging	Het
Unc79	A	G	12: 103,125,626	K1735E	possibly damaging	Het
Usp54	G	A	14: 20,583,351	T372I	possibly damaging	Het
Wdr24	T	C	17: 25,827,128	S476P	probably benign	Het
Wdr78	G	A	4: 103,049,589	P676S	probably benign	Het
Zbtb1	T	C	12: 76,386,275	I345T	possibly damaging	Het
Zcrb1	T	A	15: 93,395,615	I29L	probably benign	Het
Zfp341	T	A	2: 154,630,441	C315S	probably damaging	Het
Zfp623	C	A	15: 75,948,163	R323S	probably benign	Het
Zfp831	T	A	2: 174,644,092	Y187N	possibly 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
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
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
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'- GAAAGGACCATTCAGGCTCCAG -3'
(R):5'- GTATGGAAAGCTGAAGGCCC -3'

Sequencing Primer
(F):5'- CCATTCAGGCTCCAGTAGGAAG -3'
(R):5'- AAAGCTGAAGGCCCAGGCTC -3'

Posted On

2017-03-31