Mutagenetix > Incidental Mutation

Incidental Mutation 'R7220:Alox12e'

561750

Institutional Source

Beutler Lab

Gene Symbol

Alox12e

Ensembl Gene

ENSMUSG00000018907

Gene Name

arachidonate lipoxygenase, epidermal

Synonyms

8-LOX, Aloxe, Alox12-ps2, e-LOX1, Alox12-ps1

MMRRC Submission

045292-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7220 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70206436-70213454 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 70206731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 652 (R652L)

Ref Sequence

ENSEMBL: ENSMUSP00000019051 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019051]

AlphaFold

P55249

Predicted Effect

probably benign
Transcript: ENSMUST00000019051
AA Change: R652L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000019051
Gene: ENSMUSG00000018907
AA Change: R652L

Domain	Start	End	E-Value	Type
LH2	2	111	9.49e-38	SMART
Pfam:Lipoxygenase	163	649	1.2e-60	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	A	T	15: 84,837,337 (GRCm39)	H325Q	probably damaging	Het
Aasdh	T	C	5: 77,049,772 (GRCm39)	I75V	probably benign	Het
Abca14	G	A	7: 119,826,667 (GRCm39)	D438N	possibly damaging	Het
Abca8a	T	A	11: 109,980,793 (GRCm39)	I82F	probably benign	Het
Abca8b	G	T	11: 109,872,543 (GRCm39)	N19K	probably damaging	Het
Acan	A	G	7: 78,757,896 (GRCm39)	N506S		Het
Atad3a	A	G	4: 155,838,498 (GRCm39)	V173A	probably benign	Het
Atl3	A	G	19: 7,506,433 (GRCm39)	K326R	probably null	Het
Atm	G	T	9: 53,423,217 (GRCm39)	C636*	probably null	Het
Atp2c2	G	A	8: 120,472,300 (GRCm39)	M451I	probably benign	Het
Best1	A	T	19: 9,969,479 (GRCm39)	M193K	probably benign	Het
Bmper	G	T	9: 23,310,651 (GRCm39)	G362C	probably damaging	Het
Brd4	T	A	17: 32,444,557 (GRCm39)	Y139F	unknown	Het
Bzw2	A	T	12: 36,173,950 (GRCm39)	I108N	possibly damaging	Het
Cbs	C	A	17: 31,838,191 (GRCm39)	V353L	probably benign	Het
Ceacam20	A	G	7: 19,701,678 (GRCm39)	T22A	probably damaging	Het
Ckap2l	C	T	2: 129,117,436 (GRCm39)	E580K	probably damaging	Het
Ckmt1	T	C	2: 121,189,374 (GRCm39)	L15P	possibly damaging	Het
Clec18a	G	T	8: 111,808,204 (GRCm39)	P66H	probably benign	Het
Cma1	G	T	14: 56,180,120 (GRCm39)	T95K	probably benign	Het
Csmd3	A	G	15: 48,320,994 (GRCm39)	V272A	probably damaging	Het
Ctnna3	A	T	10: 64,670,368 (GRCm39)	E632D	probably benign	Het
Ctsc	T	C	7: 87,946,361 (GRCm39)	L130P	probably damaging	Het
Frmpd2	A	T	14: 33,229,432 (GRCm39)	R339S	probably damaging	Het
Frrs1	C	A	3: 116,674,425 (GRCm39)	S69*	probably null	Het
Gcc2	A	T	10: 58,116,416 (GRCm39)	E1108D	probably benign	Het
Gkn1	A	T	6: 87,326,135 (GRCm39)		probably null	Het
Gtf2a1	A	T	12: 91,534,498 (GRCm39)	M252K	probably benign	Het
H2-Ob	T	C	17: 34,460,234 (GRCm39)	F115S	probably damaging	Het
Ighv1-53	T	C	12: 115,122,135 (GRCm39)	N80S	probably benign	Het
Ighv1-67	T	C	12: 115,567,666 (GRCm39)	K82R	probably benign	Het
Ints1	A	T	5: 139,747,828 (GRCm39)	I1193N	possibly damaging	Het
Kmt2c	A	G	5: 25,549,923 (GRCm39)	F1353L	probably damaging	Het
Luc7l	C	T	17: 26,472,219 (GRCm39)		probably benign	Het
Man1a	A	C	10: 53,796,331 (GRCm39)	S454A	possibly damaging	Het
Mars2	C	A	1: 55,277,222 (GRCm39)	A275D	probably damaging	Het
Nrde2	A	G	12: 100,097,178 (GRCm39)	V874A	probably benign	Het
Ociad1	A	G	5: 73,470,809 (GRCm39)	T244A	probably benign	Het
Or10j2	A	G	1: 173,097,811 (GRCm39)	Y23C	possibly damaging	Het
Or3a10	A	T	11: 73,935,589 (GRCm39)	D170E	possibly damaging	Het
Or8c9	A	T	9: 38,241,046 (GRCm39)	L51F	probably damaging	Het
Ovca2	A	G	11: 75,069,501 (GRCm39)	C41R	possibly damaging	Het
Pacsin2	A	T	15: 83,269,260 (GRCm39)	D11E	probably damaging	Het
Pcdh15	G	A	10: 74,178,441 (GRCm39)	S566N	possibly damaging	Het
Pde3b	A	G	7: 114,135,297 (GRCm39)	I1038M	probably damaging	Het
Pi16	C	A	17: 29,538,208 (GRCm39)	P7Q	possibly damaging	Het
Pkhd1	T	A	1: 20,593,350 (GRCm39)	T1588S	possibly damaging	Het
Ppig	A	G	2: 69,580,320 (GRCm39)	D618G	unknown	Het
Pramel17	A	G	4: 101,694,565 (GRCm39)	F106S	probably benign	Het
Prorp	G	A	12: 55,351,200 (GRCm39)	V170M	possibly damaging	Het
Prss51	A	T	14: 64,333,444 (GRCm39)	K18*	probably null	Het
Ptpra	T	A	2: 130,386,417 (GRCm39)	D622E	probably damaging	Het
Ptprs	A	T	17: 56,725,988 (GRCm39)	F1431L	probably benign	Het
Pxdn	A	G	12: 30,044,479 (GRCm39)	I486V	probably benign	Het
Rnpc3	G	A	3: 113,422,004 (GRCm39)	A77V	probably benign	Het
Rtl10	T	A	16: 18,320,026 (GRCm39)	C85*	probably null	Het
Skint10	A	G	4: 112,586,170 (GRCm39)	S149P	probably benign	Het
Slc17a8	A	C	10: 89,412,275 (GRCm39)	V570G	probably benign	Het
Slc25a42	A	T	8: 70,642,148 (GRCm39)	V98E	probably damaging	Het
Smco2	A	G	6: 146,760,363 (GRCm39)	E73G	probably benign	Het
Ss18	T	C	18: 14,812,477 (GRCm39)	Y38C	probably damaging	Het
Sspo	T	A	6: 48,453,540 (GRCm39)	C2909*	probably null	Het
Tbccd1	A	G	16: 22,652,747 (GRCm39)	Y125H	probably benign	Het
Tdrd9	A	G	12: 111,980,888 (GRCm39)	T446A	probably damaging	Het
Tecta	G	T	9: 42,255,183 (GRCm39)	Q1672K	probably benign	Het
Tek	G	C	4: 94,692,541 (GRCm39)	W216C	probably damaging	Het
Timm17a	C	T	1: 135,241,313 (GRCm39)		probably null	Het
Tlr4	A	T	4: 66,758,188 (GRCm39)	H327L	probably benign	Het
Trim33	T	C	3: 103,234,109 (GRCm39)	I449T	possibly damaging	Het
Vmn1r57	A	G	7: 5,223,559 (GRCm39)	N28S	probably null	Het
Vmn2r117	T	A	17: 23,696,177 (GRCm39)	H410L	probably damaging	Het
Vmn2r16	A	G	5: 109,508,772 (GRCm39)	E500G	probably damaging	Het
Wif1	A	G	10: 120,926,019 (GRCm39)	N245S	possibly damaging	Het

Other mutations in Alox12e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00837:Alox12e	APN	11	70,211,880 (GRCm39)	missense	probably benign
IGL01781:Alox12e	APN	11	70,212,282 (GRCm39)	missense	probably damaging	1.00
R0284:Alox12e	UTSW	11	70,211,725 (GRCm39)	splice site	probably benign
R0417:Alox12e	UTSW	11	70,212,691 (GRCm39)	missense	probably benign	0.12
R0557:Alox12e	UTSW	11	70,212,274 (GRCm39)	missense	possibly damaging	0.80
R0593:Alox12e	UTSW	11	70,211,723 (GRCm39)	splice site	probably benign
R1479:Alox12e	UTSW	11	70,211,608 (GRCm39)	missense	probably benign	0.04
R1967:Alox12e	UTSW	11	70,208,682 (GRCm39)	missense	probably benign	0.18
R1996:Alox12e	UTSW	11	70,207,034 (GRCm39)	missense	probably benign	0.00
R2062:Alox12e	UTSW	11	70,206,828 (GRCm39)	missense	probably damaging	1.00
R2063:Alox12e	UTSW	11	70,206,828 (GRCm39)	missense	probably damaging	1.00
R2067:Alox12e	UTSW	11	70,206,828 (GRCm39)	missense	probably damaging	1.00
R2068:Alox12e	UTSW	11	70,206,828 (GRCm39)	missense	probably damaging	1.00
R2147:Alox12e	UTSW	11	70,210,771 (GRCm39)	missense	probably damaging	1.00
R2307:Alox12e	UTSW	11	70,212,087 (GRCm39)	missense	probably damaging	1.00
R3034:Alox12e	UTSW	11	70,207,079 (GRCm39)	missense	probably benign	0.01
R3739:Alox12e	UTSW	11	70,210,668 (GRCm39)	missense	probably damaging	1.00
R4463:Alox12e	UTSW	11	70,209,082 (GRCm39)	missense	probably damaging	1.00
R4572:Alox12e	UTSW	11	70,212,007 (GRCm39)	intron	probably benign
R5004:Alox12e	UTSW	11	70,212,330 (GRCm39)	missense	probably benign	0.00
R5113:Alox12e	UTSW	11	70,206,821 (GRCm39)	missense	possibly damaging	0.70
R5155:Alox12e	UTSW	11	70,207,081 (GRCm39)	missense	possibly damaging	0.61
R5464:Alox12e	UTSW	11	70,208,505 (GRCm39)	missense	probably damaging	0.99
R5471:Alox12e	UTSW	11	70,210,850 (GRCm39)	missense	probably benign	0.17
R5501:Alox12e	UTSW	11	70,207,055 (GRCm39)	missense	probably benign	0.01
R5915:Alox12e	UTSW	11	70,209,050 (GRCm39)	missense	possibly damaging	0.81
R6033:Alox12e	UTSW	11	70,206,839 (GRCm39)	missense	probably benign	0.03
R6033:Alox12e	UTSW	11	70,206,839 (GRCm39)	missense	probably benign	0.03
R6102:Alox12e	UTSW	11	70,210,849 (GRCm39)	missense	possibly damaging	0.65
R6380:Alox12e	UTSW	11	70,211,927 (GRCm39)	missense	probably benign	0.00
R6452:Alox12e	UTSW	11	70,210,831 (GRCm39)	missense	probably damaging	0.96
R7175:Alox12e	UTSW	11	70,210,534 (GRCm39)	missense	probably damaging	1.00
R7353:Alox12e	UTSW	11	70,212,261 (GRCm39)	missense	probably damaging	1.00
R7542:Alox12e	UTSW	11	70,212,582 (GRCm39)	missense	possibly damaging	0.69
R7916:Alox12e	UTSW	11	70,212,111 (GRCm39)	missense	probably benign
R8314:Alox12e	UTSW	11	70,206,998 (GRCm39)	missense	possibly damaging	0.83
R8331:Alox12e	UTSW	11	70,211,923 (GRCm39)	missense	probably benign	0.01
R9027:Alox12e	UTSW	11	70,212,600 (GRCm39)	missense	possibly damaging	0.68
R9380:Alox12e	UTSW	11	70,206,994 (GRCm39)	critical splice donor site	probably null
R9641:Alox12e	UTSW	11	70,212,261 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGATAATCGCTGTGCATTCCC -3'
(R):5'- TTGGGGAAGACACCTTGACCTC -3'

Sequencing Primer
(F):5'- ATTCCCCAGGGCTGTGTG -3'
(R):5'- TTCTTGCCTGAGAGAGACCCAATG -3'

Posted On

2019-06-26