Mutagenetix > Incidental Mutation

Incidental Mutation 'R9568:Alox12b'

721779

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9568 (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 A at 69054836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 280 (C280S)

Ref Sequence

ENSEMBL: ENSMUSP00000035250 (fasta)

Gene Model

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

AlphaFold

O70582

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036424
AA Change: C280S

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000035250
Gene: ENSMUSG00000032807
AA Change: C280S

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: 99.6%
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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	T	G	12: 113,508,020 (GRCm39)	V131G	possibly damaging	Het
Agr3	G	T	12: 35,998,349 (GRCm39)	M149I	probably benign	Het
Amhr2	C	A	15: 102,353,954 (GRCm39)	Q16K	probably benign	Het
Ank1	A	G	8: 23,609,381 (GRCm39)	T1387A	probably benign	Het
B3gnt9	A	C	8: 105,980,203 (GRCm39)	F395C	probably damaging	Het
BC048562	A	G	9: 108,322,905 (GRCm39)	D80G	probably damaging	Het
Ccdc65	T	A	15: 98,620,819 (GRCm39)	M438K	possibly damaging	Het
Ccz1	T	C	5: 143,938,251 (GRCm39)	R240G	probably damaging	Het
Cish	A	T	9: 107,177,593 (GRCm39)	S90C	probably benign	Het
Col5a2	A	T	1: 45,430,998 (GRCm39)	S881T	possibly damaging	Het
Col6a6	G	A	9: 105,657,926 (GRCm39)	T762I	possibly damaging	Het
Cpa1	A	G	6: 30,640,060 (GRCm39)	K49E	probably benign	Het
Cpb1	T	C	3: 20,320,697 (GRCm39)		probably null	Het
Csmd3	A	G	15: 48,150,942 (GRCm39)	S483P	probably damaging	Het
Cul9	G	A	17: 46,831,044 (GRCm39)	T1643I	possibly damaging	Het
Dock2	T	C	11: 34,599,638 (GRCm39)	K314E	possibly damaging	Het
Elp1	G	T	4: 56,786,711 (GRCm39)	P411T	probably damaging	Het
Fam186b	T	G	15: 99,176,571 (GRCm39)	K773T	probably damaging	Het
Fancl	T	A	11: 26,418,672 (GRCm39)	V259E	probably benign	Het
Fat4	T	G	3: 38,946,156 (GRCm39)	I1683S	probably damaging	Het
Fcamr	T	A	1: 130,732,356 (GRCm39)	H114Q	probably damaging	Het
Fndc11	T	C	2: 180,864,046 (GRCm39)	F284L	probably damaging	Het
Galns	A	G	8: 123,311,649 (GRCm39)		probably null	Het
Gch1	A	G	14: 47,426,637 (GRCm39)	S30P	probably benign	Het
Gcnt3	A	G	9: 69,942,346 (GRCm39)	I74T	probably benign	Het
Gfral	A	T	9: 76,104,383 (GRCm39)	C210S	probably damaging	Het
Gm26566	G	A	4: 88,640,247 (GRCm39)	A13T	unknown	Het
Gm9936	A	T	5: 114,995,166 (GRCm39)	D150E	unknown	Het
Gsn	C	A	2: 35,174,003 (GRCm39)	D75E	probably benign	Het
Ighd2-7	T	C	12: 113,420,344 (GRCm39)	T5A	possibly damaging	Het
Itsn1	G	T	16: 91,649,782 (GRCm39)	R152L	probably benign	Het
Klhl3	A	T	13: 58,157,126 (GRCm39)	L620Q	probably damaging	Het
Larp7-ps	G	T	4: 92,079,915 (GRCm39)	Y24*	probably null	Het
Lpl	G	A	8: 69,340,235 (GRCm39)	V77M	probably benign	Het
Lrfn3	A	T	7: 30,058,916 (GRCm39)	H436Q	probably benign	Het
Lrp1b	A	G	2: 40,569,227 (GRCm39)	C3965R		Het
Lrrc2	G	A	9: 110,799,228 (GRCm39)		probably null	Het
Manea	C	A	4: 26,340,468 (GRCm39)	D165Y	probably damaging	Het
Myom1	A	T	17: 71,394,476 (GRCm39)	Q992L	probably damaging	Het
Naip5	T	C	13: 100,359,821 (GRCm39)	T472A	probably benign	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nyap1	C	T	5: 137,733,394 (GRCm39)	W546*	probably null	Het
Olfml3	T	G	3: 103,644,282 (GRCm39)	Y129S	possibly damaging	Het
Or4d5	A	T	9: 40,011,864 (GRCm39)	D307E	probably benign	Het
Or5h19	C	A	16: 58,856,213 (GRCm39)	V296F	probably damaging	Het
Or6z5	A	G	7: 6,477,334 (GRCm39)	E75G	probably damaging	Het
Or9k2b	T	A	10: 130,015,814 (GRCm39)	I312F	probably benign	Het
P2rx6	A	C	16: 17,385,300 (GRCm39)		probably null	Het
Plxnb2	A	T	15: 89,045,160 (GRCm39)	Y1095*	probably null	Het
Pmepa1	G	A	2: 173,069,794 (GRCm39)	R216C	probably damaging	Het
Prodh	A	G	16: 17,902,619 (GRCm39)		probably benign	Het
Ptch1	A	G	13: 63,689,987 (GRCm39)	Y389H	probably damaging	Het
Ptgs2	G	T	1: 149,976,842 (GRCm39)		probably null	Het
Rbm14	A	G	19: 4,861,464 (GRCm39)	Y25H	probably damaging	Het
Rfc2	T	C	5: 134,622,112 (GRCm39)	L197P	probably damaging	Het
Rnf19b	G	T	4: 128,967,397 (GRCm39)	W313L	probably damaging	Het
Sh3rf1	G	T	8: 61,825,585 (GRCm39)	A527S	probably benign	Het
Slc12a1	A	G	2: 125,032,218 (GRCm39)	Y623C	probably damaging	Het
Slc25a54	T	A	3: 109,005,932 (GRCm39)	W147R	probably damaging	Het
Slc4a1	A	G	11: 102,247,680 (GRCm39)	L401P	probably damaging	Het
Slc4a7	A	G	14: 14,796,073 (GRCm38)		probably null	Het
Stab2	A	G	10: 86,699,420 (GRCm39)	Y1933H	probably damaging	Het
Supt5	A	T	7: 28,014,688 (GRCm39)	V1037E	probably damaging	Het
Sv2b	A	T	7: 74,775,428 (GRCm39)	H466Q	probably benign	Het
Tmco5	G	A	2: 116,710,730 (GRCm39)	E17K	probably damaging	Het
Tmem69	G	A	4: 116,411,972 (GRCm39)	S12F	probably damaging	Het
Trp53	C	A	11: 69,478,392 (GRCm39)	Y100*	probably null	Het
Trpm7	A	T	2: 126,664,510 (GRCm39)	H956Q	probably benign	Het
Tsnaxip1	G	A	8: 106,569,135 (GRCm39)	R495H	probably benign	Het
Vmn1r237	A	T	17: 21,534,777 (GRCm39)	I167F	probably benign	Het
Vmn1r70	A	G	7: 10,368,292 (GRCm39)	D260G	probably benign	Het
Zbtb38	G	A	9: 96,570,944 (GRCm39)	H47Y	probably damaging	Het
Zfp184	G	T	13: 22,142,897 (GRCm39)	C201F	probably benign	Het
Zfp384	T	A	6: 125,001,796 (GRCm39)	I147N	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
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
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'- TCAACACAAAGCTAAGGGGC -3'
(R):5'- TGATTGAGACTCAAATGGACCTTG -3'

Sequencing Primer
(F):5'- AGCTAAGGGGCTTCATGTTCCC -3'
(R):5'- GAGACTCAAATGGACCTTGTTGATG -3'

Posted On

2022-08-09