Mutagenetix > Incidental Mutations

Incidental Mutation 'R7595:Alox12'

587686

Institutional Source

Beutler Lab

Gene Symbol

Alox12

Ensembl Gene

ENSMUSG00000000320

Gene Name

arachidonate 12-lipoxygenase

Synonyms

P-12LO, 9930022G08Rik, Alox12p

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R7595 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70241457-70255353 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70242404 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 658 (E658V)

Ref Sequence

ENSEMBL: ENSMUSP00000000329 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000329] [ENSMUST00000021180] [ENSMUST00000021181] [ENSMUST00000040428] [ENSMUST00000100950] [ENSMUST00000102569] [ENSMUST00000108575] [ENSMUST00000108576] [ENSMUST00000108577] [ENSMUST00000108578] [ENSMUST00000108579] [ENSMUST00000125752] [ENSMUST00000141880] [ENSMUST00000176116] [ENSMUST00000176268]

Predicted Effect

probably damaging
Transcript: ENSMUST00000000329
AA Change: E658V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000000329
Gene: ENSMUSG00000000320
AA Change: E658V

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: ENSMUST00000100950

SMART Domains

Protein: ENSMUSP00000098510
Gene: ENSMUSG00000020831

Domain	Start	End	E-Value	Type
SANT	37	82	7.29e-1	SMART
low complexity region	105	128	N/A	INTRINSIC
low complexity region	134	149	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

probably benign
Transcript: ENSMUST00000125752

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: 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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (44/44)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930516K23Rik	T	C	7: 104,059,263	E113G	probably damaging	Het
Adamts16	A	G	13: 70,730,115	F1177S	probably damaging	Het
Anxa6	C	A	11: 54,985,085	V591L	probably benign	Het
Atp6ap1l	A	T	13: 90,891,016	S141T	probably damaging	Het
Bcar1	A	C	8: 111,720,993	N117K	probably benign	Het
Cdh22	A	G	2: 165,112,463	S713P	probably benign	Het
Cideb	T	C	14: 55,754,804	D144G	probably damaging	Het
Coch	T	A	12: 51,598,233	V190D	probably damaging	Het
Cyp4a12a	C	A	4: 115,331,892	L473M	probably damaging	Het
Dennd1c	A	C	17: 57,071,633	L331R	probably damaging	Het
Dthd1	A	G	5: 62,818,715	D244G	probably benign	Het
Dytn	T	C	1: 63,659,002	E282G	probably damaging	Het
Eml4	A	G	17: 83,456,084	Q576R	probably benign	Het
Fa2h	T	A	8: 111,355,490	I175F	probably benign	Het
Fv1	A	G	4: 147,870,170	T398A	possibly damaging	Het
Ggh	C	G	4: 20,049,833	S88C	probably damaging	Het
Gm4778	A	G	3: 94,266,678	E327G	probably benign	Het
Gm5286	A	G	3: 94,198,417	D14G	probably benign	Het
Gm5592	A	G	7: 41,286,443	D123G	probably damaging	Het
Golph3l	A	G	3: 95,609,783	T201A	probably benign	Het
Ikbip	A	G	10: 91,096,585	S364G	probably benign	Het
Kcnc3	G	A	7: 44,591,469	R195H	probably damaging	Het
Kdm5b	T	A	1: 134,608,966	D641E	probably benign	Het
Kif26a	C	T	12: 112,179,325	P1757S	probably benign	Het
Klf14	T	C	6: 30,958,540	K53R	probably benign	Het
Klk1b4	A	G	7: 44,210,708	D82G	probably benign	Het
Ly75	A	G	2: 60,293,827	F1702S	probably benign	Het
Mfsd4b1	A	T	10: 40,003,225	Y225*	probably null	Het
Olfr44	A	C	9: 39,484,315	F313V	probably benign	Het
Pcsk4	T	A	10: 80,322,101	D601V	possibly damaging	Het
Pkhd1l1	T	A	15: 44,495,521	D375E	probably damaging	Het
Primpol	A	G	8: 46,610,615	L2S	probably benign	Het
Ralgapb	G	A	2: 158,426,165	V63I	possibly damaging	Het
Rptor	T	A	11: 119,743,953	N198K	possibly damaging	Het
Samd5	T	C	10: 9,628,994	N172S	probably benign	Het
Sorbs1	A	T	19: 40,314,653	H542Q	probably damaging	Het
Srgn	T	A	10: 62,508,006		probably benign	Het
Taar6	C	T	10: 23,985,070	V193I	probably benign	Het
Tmem132a	G	A	19: 10,858,205	A987V	probably damaging	Het
Trank1	T	C	9: 111,365,991	Y1028H	probably damaging	Het
Ttc21a	T	C	9: 119,958,069	L714P	probably benign	Het
Wdfy4	C	T	14: 32,974,154		probably null	Het
Zswim9	T	C	7: 13,261,072	D386G	probably benign	Het
Zwilch	A	G	9: 64,149,264		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
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
R7972:Alox12	UTSW	11	70242687	missense	probably benign	0.15
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'- GCCCTCCAAAGACTAAATTGTTCC -3'
(R):5'- TGGAGCCTGAATGGTCCTTTC -3'

Sequencing Primer
(F):5'- TAACAGCAAGACATTTAGTGCCCTG -3'
(R):5'- GAGCCTGAATGGTCCTTTCTTTCTG -3'

Posted On

2019-10-24