Mutagenetix > Incidental Mutation

Incidental Mutation 'R7998:Alox12b'

616206

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

046038-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7998 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69047898-69060617 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69059663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 572 (Y572H)

Ref Sequence

ENSEMBL: ENSMUSP00000035250 (fasta)

Gene Model

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

AlphaFold

O70582

Predicted Effect

probably damaging
Transcript: ENSMUST00000036424
AA Change: Y572H

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000035250
Gene: ENSMUSG00000032807
AA Change: Y572H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	C	T	14: 35,818,649 (GRCm39)	R216C	probably benign	Het
Acsl3	C	T	1: 78,671,988 (GRCm39)	P294L	probably damaging	Het
Arid1b	A	G	17: 5,377,959 (GRCm39)	D1236G	probably damaging	Het
Astl	T	C	2: 127,192,419 (GRCm39)	L254P	probably damaging	Het
Btbd7	A	C	12: 102,761,499 (GRCm39)	L562R	probably damaging	Het
Chl1	T	C	6: 103,706,250 (GRCm39)	V1195A	probably benign	Het
Ciao2b	T	A	8: 105,367,668 (GRCm39)	S94C	probably damaging	Het
Cib1	A	T	7: 79,878,162 (GRCm39)	Y105*	probably null	Het
Cog3	G	T	14: 75,984,533 (GRCm39)	S94Y	possibly damaging	Het
Cpne6	A	C	14: 55,753,751 (GRCm39)	Q403P	probably damaging	Het
Csn1s1	A	G	5: 87,822,087 (GRCm39)	N119S	possibly damaging	Het
Cux2	T	C	5: 122,006,648 (GRCm39)	D874G	possibly damaging	Het
Dicer1	A	T	12: 104,670,328 (GRCm39)	F1079Y	probably damaging	Het
Dsc2	T	A	18: 20,167,720 (GRCm39)	Q724H	possibly damaging	Het
Fbxw16	A	G	9: 109,265,766 (GRCm39)	V351A	probably damaging	Het
G2e3	A	T	12: 51,400,624 (GRCm39)	E59D	probably benign	Het
Gm10800	A	AC	2: 98,497,378 (GRCm39)		probably null	Het
Gm10837	G	T	14: 122,728,053 (GRCm39)		probably benign	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gpr18	T	C	14: 122,149,393 (GRCm39)	I211V	probably benign	Het
Gstm7	T	A	3: 107,837,657 (GRCm39)	D98V	probably damaging	Het
Hspa8	A	G	9: 40,715,810 (GRCm39)	Y525C	probably damaging	Het
Itga7	T	C	10: 128,770,020 (GRCm39)	S55P	probably damaging	Het
Itpr1	T	C	6: 108,394,909 (GRCm39)	V1674A	possibly damaging	Het
Itsn1	G	T	16: 91,647,824 (GRCm39)	G893C	unknown	Het
Kcnc1	A	G	7: 46,047,223 (GRCm39)	D41G	probably benign	Het
Larp6	A	G	9: 60,631,638 (GRCm39)	K137E	probably damaging	Het
Leo1	G	T	9: 75,352,558 (GRCm39)	G34C	probably benign	Het
Map4	G	A	9: 109,908,929 (GRCm39)	V1050M	probably damaging	Het
Mast3	A	G	8: 71,236,214 (GRCm39)	V722A	probably benign	Het
Med28	T	A	5: 45,682,541 (GRCm39)	V69D	probably damaging	Het
Mier1	T	C	4: 103,019,812 (GRCm39)	F512S	probably benign	Het
Mix23	T	A	16: 35,905,403 (GRCm39)	V65D	probably benign	Het
Mov10l1	T	A	15: 88,937,642 (GRCm39)	V1147E	probably damaging	Het
Mroh7	T	C	4: 106,568,478 (GRCm39)	E409G	probably benign	Het
Muc16	G	T	9: 18,551,188 (GRCm39)	P5035Q	probably benign	Het
Nemp1	C	A	10: 127,529,358 (GRCm39)	S213R	probably damaging	Het
Npffr2	T	C	5: 89,731,149 (GRCm39)	Y360H	probably damaging	Het
Nrxn2	T	C	19: 6,559,905 (GRCm39)	V1221A	probably damaging	Het
Nup107	A	G	10: 117,593,899 (GRCm39)	F765L	probably damaging	Het
Nup188	T	C	2: 30,220,983 (GRCm39)	L991P	probably damaging	Het
Or13f5	A	T	4: 52,825,970 (GRCm39)	D191V	possibly damaging	Het
Or5ac23	T	A	16: 59,149,633 (GRCm39)	M80L	probably benign	Het
Pla2g7	A	T	17: 43,922,209 (GRCm39)	I363L	probably benign	Het
Ppp2r1a	T	C	17: 21,181,901 (GRCm39)	F473S	possibly damaging	Het
Prex1	A	G	2: 166,428,965 (GRCm39)		probably null	Het
Ptov1	A	G	7: 44,514,353 (GRCm39)	V263A	probably damaging	Het
Reg3a	T	C	6: 78,358,132 (GRCm39)	V21A	probably benign	Het
Sdk2	T	A	11: 113,750,764 (GRCm39)	I550F	probably benign	Het
Shprh	T	A	10: 11,061,085 (GRCm39)	W1133R	probably damaging	Het
Slc28a2b	T	C	2: 122,324,839 (GRCm39)	L137P	probably damaging	Het
Syne2	T	C	12: 76,134,632 (GRCm39)	V1297A	probably damaging	Het
Themis2	A	G	4: 132,519,875 (GRCm39)	I50T	probably damaging	Het
Tmprss15	C	A	16: 78,798,731 (GRCm39)	L650F	possibly damaging	Het
Ttc41	C	A	10: 86,572,711 (GRCm39)	N694K	probably benign	Het
Ttll9	T	C	2: 152,833,546 (GRCm39)	Y215H	possibly damaging	Het
Ttn	C	A	2: 76,733,653 (GRCm39)	V4541L	unknown	Het
Usp32	G	T	11: 84,885,252 (GRCm39)	A1265E	probably damaging	Het
Vcan	T	A	13: 89,852,446 (GRCm39)	D838V	probably damaging	Het
Vmn2r88	T	C	14: 51,651,565 (GRCm39)	I293T		Het
Wdr36	T	G	18: 32,985,572 (GRCm39)	D496E	probably damaging	Het
Wrn	T	C	8: 33,782,671 (GRCm39)	N753S	probably benign	Het
Zmat3	T	C	3: 32,395,815 (GRCm39)	R231G	possibly damaging	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
R0305:Alox12b	UTSW	11	69,058,205 (GRCm39)	missense	probably benign	0.25
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
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'- AGCTCTTTGAAGGAGGGAGTC -3'
(R):5'- ATGAGACTGGACCAGGGTTTC -3'

Sequencing Primer
(F):5'- GGAGTCCCAGCAGCCAAC -3'
(R):5'- CAGGGTTTCCATGGACACTGAG -3'

Posted On

2020-01-23