Mutagenetix > Incidental Mutation

Incidental Mutation 'R0305:Alox12b'

24910

Institutional Source

Beutler Lab

Gene Symbol

Alox12b

Ensembl Gene

ENSMUSG00000032807

Gene Name

arachidonate 12-lipoxygenase, 12R type

Synonyms

e-LOX2, 12R-LOX, Aloxe2

MMRRC Submission

038516-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0305 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69047898-69060617 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69058205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 519 (Y519F)

Ref Sequence

ENSEMBL: ENSMUSP00000035250 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036424]

AlphaFold

O70582

Predicted Effect

probably benign
Transcript: ENSMUST00000036424
AA Change: Y519F

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000035250
Gene: ENSMUSG00000032807
AA Change: Y519F

Domain	Start	End	E-Value	Type
LH2	2	116	9.9e-32	SMART
low complexity region	164	175	N/A	INTRINSIC
Pfam:Lipoxygenase	228	686	5.3e-59	PFAM

Meta Mutation Damage Score

0.0841

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.5%
20x: 91.2%

Validation Efficiency

100% (59/59)

MGI Phenotype

FUNCTION: This gene encodes an enzyme involved in the conversion of arachidonic acid to 12R-hydroxyeicosatetraenoic acid. Mutations in this gene can prevent the formation of the epidermal permeability barrier and cause an ichthyosiform phenotype. [provided by RefSeq, Sep 2015]
PHENOTYPE: Neonatal homozygous mutant mice exhibit reddened skin that quickly dehydrates and appears scaly. The epidermis is hyperkeratotic, and its permeability barrier function is compromised. Homozygotes die within 24 hours of birth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	G	A	7: 27,274,061 (GRCm39)	R183Q	probably damaging	Het
Abca5	A	G	11: 110,164,137 (GRCm39)		probably benign	Het
Ada	T	C	2: 163,570,077 (GRCm39)	K312R	probably benign	Het
Adam21	C	A	12: 81,607,059 (GRCm39)	K234N	possibly damaging	Het
Afdn	T	A	17: 14,108,776 (GRCm39)		probably null	Het
Aimp1	T	G	3: 132,379,747 (GRCm39)	K132Q	possibly damaging	Het
Aldh16a1	C	T	7: 44,797,403 (GRCm39)	R135Q	probably damaging	Het
Alppl2	T	C	1: 87,017,324 (GRCm39)	E25G	probably benign	Het
Apob	A	T	12: 8,062,210 (GRCm39)	N3531I	probably damaging	Het
Arhgap23	T	C	11: 97,391,935 (GRCm39)	L321P	probably damaging	Het
Cab39l	C	T	14: 59,757,028 (GRCm39)	Q137*	probably null	Het
Cenpo	A	T	12: 4,266,660 (GRCm39)	H149Q	possibly damaging	Het
Cpt1a	A	G	19: 3,428,455 (GRCm39)	T610A	probably benign	Het
Dcbld2	A	G	16: 58,269,302 (GRCm39)	T271A	probably damaging	Het
Dcps	A	G	9: 35,087,065 (GRCm39)		probably null	Het
Dnai2	A	G	11: 114,643,720 (GRCm39)	D462G	probably benign	Het
Dsg2	T	A	18: 20,715,752 (GRCm39)		probably benign	Het
Eomes	A	T	9: 118,313,825 (GRCm39)	E623D	probably benign	Het
Fras1	A	T	5: 96,744,747 (GRCm39)	H594L	probably benign	Het
Gad1-ps	T	G	10: 99,280,665 (GRCm39)		noncoding transcript	Het
Galk2	A	G	2: 125,729,808 (GRCm39)	Y63C	probably damaging	Het
H2-T10	A	G	17: 36,430,260 (GRCm39)	L227P	probably damaging	Het
Itgb4	T	G	11: 115,870,238 (GRCm39)	C73G	probably damaging	Het
Itpr2	T	C	6: 146,212,601 (GRCm39)	H1472R	possibly damaging	Het
Kcnh5	C	T	12: 75,161,171 (GRCm39)	A246T	probably benign	Het
Kpna6	G	T	4: 129,543,042 (GRCm39)	R458S	probably benign	Het
Lifr	A	G	15: 7,206,982 (GRCm39)	T498A	probably damaging	Het
Lrrd1	T	G	5: 3,915,707 (GRCm39)	I768S	probably damaging	Het
Map2	T	C	1: 66,452,253 (GRCm39)	V223A	probably benign	Het
Nod2	G	A	8: 89,391,951 (GRCm39)	A731T	probably damaging	Het
Nrxn2	G	A	19: 6,569,313 (GRCm39)	C1403Y	probably damaging	Het
Nxph1	A	T	6: 9,247,754 (GRCm39)	I242F	probably damaging	Het
Or5p79	G	A	7: 108,221,792 (GRCm39)	V258I	probably benign	Het
Pgr	A	G	9: 8,902,088 (GRCm39)		probably benign	Het
Pik3cb	A	G	9: 98,946,129 (GRCm39)	S566P	possibly damaging	Het
Sema4d	T	C	13: 51,866,764 (GRCm39)	Y242C	probably damaging	Het
Sftpc	T	A	14: 70,761,518 (GRCm39)		probably benign	Het
Sh3tc1	T	G	5: 35,881,343 (GRCm39)	E33D	probably benign	Het
Slc17a5	A	G	9: 78,464,819 (GRCm39)	L344P	probably benign	Het
Slc39a5	T	A	10: 128,234,265 (GRCm39)		probably benign	Het
Slc7a13	C	A	4: 19,839,401 (GRCm39)	H335N	probably benign	Het
Slco1a4	A	C	6: 141,763,479 (GRCm39)	N412K	possibly damaging	Het
Sox1	A	T	8: 12,446,736 (GRCm39)	T126S	probably damaging	Het
Specc1l	T	A	10: 75,081,663 (GRCm39)	V353E	probably damaging	Het
Stat5b	T	C	11: 100,693,329 (GRCm39)	E104G	probably benign	Het
Sult4a1	A	G	15: 83,970,868 (GRCm39)	V179A	probably damaging	Het
Tafa5	T	A	15: 87,604,709 (GRCm39)	I83N	probably damaging	Het
Tbl3	G	A	17: 24,924,435 (GRCm39)	R134C	probably damaging	Het
Tmem256	T	A	11: 69,729,737 (GRCm39)		probably benign	Het
Tmigd1	A	G	11: 76,797,960 (GRCm39)	T101A	probably damaging	Het
Unc5b	C	A	10: 60,615,437 (GRCm39)		probably benign	Het
Unc79	T	A	12: 103,079,459 (GRCm39)	S1679T	probably benign	Het
Vmn2r1	T	G	3: 63,997,087 (GRCm39)	C248G	probably damaging	Het
Vmn2r57	T	C	7: 41,076,967 (GRCm39)	I400V	probably benign	Het
Vwa8	T	A	14: 79,246,713 (GRCm39)	L685H	probably damaging	Het
Yeats4	A	G	10: 117,051,741 (GRCm39)	F172S	probably damaging	Het
Zfpm2	T	G	15: 40,637,431 (GRCm39)		probably benign	Het

Other mutations in Alox12b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00959:Alox12b	APN	11	69,057,069 (GRCm39)	missense	probably damaging	1.00
IGL02990:Alox12b	APN	11	69,054,032 (GRCm39)	missense	probably benign	0.17
IGL03106:Alox12b	APN	11	69,059,702 (GRCm39)	nonsense	probably null
R0126:Alox12b	UTSW	11	69,058,297 (GRCm39)	missense	probably benign	0.36
R0135:Alox12b	UTSW	11	69,053,574 (GRCm39)	missense	probably benign	0.06
R0432:Alox12b	UTSW	11	69,060,382 (GRCm39)	missense	probably damaging	1.00
R0828:Alox12b	UTSW	11	69,057,132 (GRCm39)	missense	possibly damaging	0.89
R0854:Alox12b	UTSW	11	69,055,302 (GRCm39)	critical splice donor site	probably null
R1139:Alox12b	UTSW	11	69,055,231 (GRCm39)	missense	probably damaging	1.00
R1558:Alox12b	UTSW	11	69,056,711 (GRCm39)	missense	probably damaging	1.00
R1870:Alox12b	UTSW	11	69,049,199 (GRCm39)	missense	possibly damaging	0.94
R4088:Alox12b	UTSW	11	69,049,211 (GRCm39)	missense	probably benign	0.14
R4195:Alox12b	UTSW	11	69,060,426 (GRCm39)	missense	probably benign	0.02
R4248:Alox12b	UTSW	11	69,054,431 (GRCm39)	missense	probably benign
R4371:Alox12b	UTSW	11	69,060,442 (GRCm39)	missense	possibly damaging	0.86
R4774:Alox12b	UTSW	11	69,054,033 (GRCm39)	missense	probably benign	0.00
R5108:Alox12b	UTSW	11	69,048,208 (GRCm39)	missense	probably benign	0.11
R5252:Alox12b	UTSW	11	69,056,762 (GRCm39)	missense	probably damaging	1.00
R5579:Alox12b	UTSW	11	69,053,758 (GRCm39)	missense	probably benign	0.04
R6000:Alox12b	UTSW	11	69,060,394 (GRCm39)	missense	probably damaging	0.98
R6168:Alox12b	UTSW	11	69,060,460 (GRCm39)	missense	probably damaging	1.00
R6322:Alox12b	UTSW	11	69,049,199 (GRCm39)	missense	possibly damaging	0.94
R6634:Alox12b	UTSW	11	69,059,647 (GRCm39)	nonsense	probably null
R7026:Alox12b	UTSW	11	69,048,131 (GRCm39)	missense	possibly damaging	0.66
R7519:Alox12b	UTSW	11	69,054,039 (GRCm39)	missense	probably benign	0.37
R7669:Alox12b	UTSW	11	69,060,167 (GRCm39)	missense	probably benign	0.07
R7863:Alox12b	UTSW	11	69,057,753 (GRCm39)	missense	probably damaging	1.00
R7870:Alox12b	UTSW	11	69,060,135 (GRCm39)	missense	possibly damaging	0.76
R7998:Alox12b	UTSW	11	69,059,663 (GRCm39)	missense	probably damaging	0.99
R8228:Alox12b	UTSW	11	69,054,755 (GRCm39)	missense	probably damaging	0.99
R8674:Alox12b	UTSW	11	69,054,801 (GRCm39)	missense	possibly damaging	0.49
R9055:Alox12b	UTSW	11	69,054,884 (GRCm39)	missense	possibly damaging	0.70
R9306:Alox12b	UTSW	11	69,060,396 (GRCm39)	missense	possibly damaging	0.76
R9544:Alox12b	UTSW	11	69,054,812 (GRCm39)	missense	possibly damaging	0.65
R9568:Alox12b	UTSW	11	69,054,836 (GRCm39)	missense	possibly damaging	0.95
X0018:Alox12b	UTSW	11	69,048,125 (GRCm39)	missense	probably damaging	1.00
Z1176:Alox12b	UTSW	11	69,048,151 (GRCm39)	missense	possibly damaging	0.69
Z1176:Alox12b	UTSW	11	69,048,149 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GGGACCCCATTATCCTTGCTTTGG -3'
(R):5'- CATGCCTAGTAAAGTGCCTTGAGCC -3'

Sequencing Primer
(F):5'- ATCTCTGCTCGACAGGTCC -3'
(R):5'- TATCTCCTGTACCCAGCACT -3'

Posted On

2013-04-16