Mutagenetix > Incidental Mutation

Incidental Mutation 'R7519:Alox12b'

582575

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

045591-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7519 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69047898-69060617 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 69054039 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 207 (T207I)

Ref Sequence

ENSEMBL: ENSMUSP00000035250 (fasta)

Gene Model

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

AlphaFold

O70582

Predicted Effect

probably benign
Transcript: ENSMUST00000036424
AA Change: T207I

PolyPhen 2 Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000035250
Gene: ENSMUSG00000032807
AA Change: T207I

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

0.0898

Coding Region Coverage

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

Validation Efficiency

100% (54/54)

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: 27,274,155 (GRCm39)	R132K		Het
Acaca	T	C	11: 84,136,682 (GRCm39)	S571P	probably damaging	Het
Adamts20	T	G	15: 94,223,869 (GRCm39)	K1286N	possibly damaging	Het
Adamts7	A	G	9: 90,079,132 (GRCm39)	D1477G	probably benign	Het
Arid1b	GGGCGGCGGCGGCGGCGGCGGCGG	GGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	17: 5,046,119 (GRCm39)		probably benign	Het
Arid1b	CGGCGG	CGGCGGTGGCGG	17: 5,046,128 (GRCm39)		probably benign	Het
Aspm	T	A	1: 139,418,074 (GRCm39)	N2934K	possibly damaging	Het
Axin2	T	G	11: 108,833,072 (GRCm39)	V419G	probably benign	Het
B4galnt4	A	G	7: 140,644,257 (GRCm39)	T108A	probably damaging	Het
Cacna1s	G	A	1: 135,998,494 (GRCm39)	R174Q	probably damaging	Het
Cdh18	G	T	15: 23,474,298 (GRCm39)	A723S	possibly damaging	Het
Ces4a	T	C	8: 105,871,851 (GRCm39)	M307T	probably damaging	Het
Cobl	T	A	11: 12,203,124 (GRCm39)	I1193F	probably damaging	Het
Crb2	G	T	2: 37,683,332 (GRCm39)	G945W	probably damaging	Het
Ctnna1	T	G	18: 35,307,424 (GRCm39)	I140M	probably benign	Het
Dnah5	T	C	15: 28,390,629 (GRCm39)	S3213P	probably damaging	Het
Fbln7	A	G	2: 128,735,785 (GRCm39)	S258G	probably benign	Het
Fbxo15	T	G	18: 84,982,359 (GRCm39)		probably benign	Het
Fcgbp	A	G	7: 27,785,724 (GRCm39)	Y387C	probably damaging	Het
Flt3l	G	A	7: 44,783,269 (GRCm39)	T176I	unknown	Het
Galk2	G	A	2: 125,825,172 (GRCm39)	R456H	possibly damaging	Het
Gm10840	T	C	11: 106,051,716 (GRCm39)	L14P	unknown	Het
Gm5591	T	C	7: 38,220,094 (GRCm39)	T260A	possibly damaging	Het
Gm6370	T	A	5: 146,430,638 (GRCm39)	D274E	probably damaging	Het
Grhl2	T	A	15: 37,336,556 (GRCm39)	D484E	probably damaging	Het
Hbp1	A	T	12: 31,983,374 (GRCm39)	V360D	probably damaging	Het
Heatr5b	G	T	17: 79,062,646 (GRCm39)	Q1968K	probably benign	Het
Igsf8	C	T	1: 172,143,874 (GRCm39)	T72M	probably benign	Het
Kera	A	T	10: 97,444,884 (GRCm39)	N81I	probably damaging	Het
Klhl14	C	T	18: 21,784,900 (GRCm39)	V176I	probably benign	Het
Klrb1	A	T	6: 128,689,252 (GRCm39)	V73E	probably damaging	Het
Krtap31-2	T	C	11: 99,827,501 (GRCm39)	L111P	possibly damaging	Het
Mbtd1	T	C	11: 93,799,725 (GRCm39)	S106P	probably damaging	Het
Nckap5l	T	C	15: 99,324,128 (GRCm39)	T792A	probably benign	Het
Ndufaf4	A	C	4: 24,901,847 (GRCm39)	T132P	probably damaging	Het
Neo1	A	G	9: 58,785,348 (GRCm39)	V1453A	probably benign	Het
Or5w13	T	C	2: 87,523,753 (GRCm39)	I158V	probably benign	Het
Or6c76	A	C	10: 129,612,091 (GRCm39)	I103L	probably benign	Het
Pcdha11	T	A	18: 37,139,319 (GRCm39)	L316*	probably null	Het
Pcdha7	T	C	18: 37,109,285 (GRCm39)	M770T	possibly damaging	Het
Pcsk1	T	C	13: 75,258,984 (GRCm39)	S253P	probably damaging	Het
Phtf1	T	C	3: 103,876,435 (GRCm39)	Y12H	probably damaging	Het
Pkd1l2	T	C	8: 117,792,268 (GRCm39)	N508S	probably benign	Het
Pla1a	A	G	16: 38,235,208 (GRCm39)	I162T	possibly damaging	Het
Rb1	A	T	14: 73,502,048 (GRCm39)	L446M	probably damaging	Het
Retn	A	T	8: 3,706,079 (GRCm39)	S22C	probably damaging	Het
Snx25	A	G	8: 46,569,309 (GRCm39)	L196P	probably damaging	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Spata31d1b	G	A	13: 59,864,726 (GRCm39)	D625N	probably benign	Het
Sycp2	T	C	2: 177,988,126 (GRCm39)	*1501W	probably null	Het
Tarbp1	T	G	8: 127,160,639 (GRCm39)	T1271P	possibly damaging	Het
Uba1y	T	C	Y: 821,567 (GRCm39)	F154L	probably benign	Het
Ubr1	T	A	2: 120,705,925 (GRCm39)	I1513F	possibly damaging	Het
Vmn2r110	T	A	17: 20,804,524 (GRCm39)	Q132L	probably benign	Het
Vwf	A	T	6: 125,644,506 (GRCm39)	T2454S		Het
Wdr33	C	A	18: 32,029,823 (GRCm39)	F1007L	unknown	Het
Zfp398	A	G	6: 47,836,407 (GRCm39)	H201R	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
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
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'- TGGCCTTCCCAACTATGTGG -3'
(R):5'- GTTCTAAACCCTGTGTCTCTGG -3'

Sequencing Primer
(F):5'- AACTATGTGGATATCCCCAGTTACC -3'
(R):5'- CTCTGGGTCTTTGTCTCTAGGTC -3'

Posted On

2019-10-17