Mutagenetix > Incidental Mutation

Incidental Mutation 'R0367:Loxhd1'

30299

Institutional Source

Beutler Lab

Gene Symbol

Loxhd1

Ensembl Gene

ENSMUSG00000032818

Gene Name

lipoxygenase homology domains 1

Synonyms

1700096C21Rik, sba

MMRRC Submission

038573-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

R0367 (G1)

Quality Score

208

Status

Validated

Chromosome

Chromosomal Location

77369654-77530626 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 77513453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120991 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096547] [ENSMUST00000123166] [ENSMUST00000123410]

AlphaFold

C8YR32

Predicted Effect

probably benign
Transcript: ENSMUST00000096547

SMART Domains

Protein: ENSMUSP00000094294
Gene: ENSMUSG00000032818

Domain	Start	End	E-Value	Type
LH2	43	158	5.64e-5	SMART
LH2	172	290	1.64e-9	SMART
LH2	296	409	1.1e-4	SMART
LH2	425	539	4.02e-4	SMART
LH2	553	675	3.79e-6	SMART
LH2	684	800	5.92e-6	SMART
LH2	814	936	6.91e-8	SMART
low complexity region	945	954	N/A	INTRINSIC
LH2	970	1086	4.81e-7	SMART
LH2	1101	1228	5.73e-3	SMART
LH2	1255	1375	8.82e-5	SMART
Pfam:PLAT	1424	1540	5.4e-10	PFAM
LH2	1553	1666	6.41e-3	SMART
LH2	1680	1799	6.76e-6	SMART
Pfam:PLAT	1813	1929	3.8e-9	PFAM
LH2	1949	2067	7.23e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123166

SMART Domains

Protein: ENSMUSP00000116287
Gene: ENSMUSG00000032818

Domain	Start	End	E-Value	Type
LH2	1	114	6.41e-3	SMART
LH2	128	247	6.76e-6	SMART
Pfam:PLAT	261	379	1.3e-8	PFAM
LH2	397	515	7.23e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123410

SMART Domains

Protein: ENSMUSP00000120991
Gene: ENSMUSG00000032818

Domain	Start	End	E-Value	Type
Pfam:PLAT	1	67	4.4e-15	PFAM
low complexity region	79	88	N/A	INTRINSIC
LH2	104	220	4.81e-7	SMART
LH2	235	362	5.73e-3	SMART
LH2	389	509	8.82e-5	SMART
Pfam:PLAT	558	674	9.9e-12	PFAM
LH2	687	800	6.41e-3	SMART
LH2	814	933	6.76e-6	SMART
Pfam:PLAT	947	1065	8.8e-9	PFAM
Pfam:PLAT	1085	1174	4.2e-11	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.8%

Validation Efficiency

100% (60/60)

MGI Phenotype

PHENOTYPE: Mice honozygous for an ENU-induced mutation exhibit hearing loss associated with hair cell and spiral ganglion degeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,049,961 (GRCm39)	S12P	probably damaging	Het
Alx4	T	A	2: 93,498,953 (GRCm39)	D228E	probably damaging	Het
Antxr2	T	C	5: 98,177,455 (GRCm39)	E71G	probably benign	Het
Arhgap19	C	A	19: 41,790,417 (GRCm39)	G17V	probably benign	Het
C8a	A	C	4: 104,719,791 (GRCm39)		probably null	Het
Ccne2	T	A	4: 11,201,426 (GRCm39)		probably benign	Het
Cdc42bpg	G	A	19: 6,361,425 (GRCm39)	C317Y	probably damaging	Het
Cend1	C	A	7: 141,007,808 (GRCm39)	R4L	probably damaging	Het
Cfap44	T	C	16: 44,253,839 (GRCm39)		probably null	Het
Cpt1c	T	C	7: 44,608,999 (GRCm39)	N774S	probably benign	Het
Csmd1	C	T	8: 15,967,270 (GRCm39)	D3198N	probably damaging	Het
Dapk2	C	T	9: 66,176,168 (GRCm39)	S323F	probably damaging	Het
Ddx60	T	G	8: 62,470,783 (GRCm39)	I1425R	possibly damaging	Het
Edem1	T	A	6: 108,823,713 (GRCm39)	Y370N	probably damaging	Het
Elp5	A	G	11: 69,865,967 (GRCm39)	V103A	probably benign	Het
Fads1	C	T	19: 10,160,429 (GRCm39)	P5L	probably benign	Het
Fat1	A	G	8: 45,477,350 (GRCm39)	D2132G	probably damaging	Het
Fat2	A	T	11: 55,182,919 (GRCm39)		probably benign	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gp2	C	T	7: 119,053,791 (GRCm39)	D57N	probably damaging	Het
Gpr161	T	C	1: 165,144,805 (GRCm39)		probably benign	Het
Gstcd	G	A	3: 132,692,138 (GRCm39)		probably benign	Het
Hipk3	A	T	2: 104,261,594 (GRCm39)	C980*	probably null	Het
Htr2a	A	T	14: 74,879,649 (GRCm39)	I93L	probably damaging	Het
Itpr2	T	G	6: 146,135,506 (GRCm39)	K1775N	probably damaging	Het
Kcnt1	G	A	2: 25,797,640 (GRCm39)	V864I	probably damaging	Het
Kcnt2	A	T	1: 140,278,963 (GRCm39)	Y38F	probably damaging	Het
Limch1	G	A	5: 67,015,297 (GRCm39)		probably null	Het
Lmtk2	C	T	5: 144,111,103 (GRCm39)	R608C	possibly damaging	Het
Lpin2	A	T	17: 71,522,017 (GRCm39)	E17V	probably damaging	Het
Lrrc34	A	T	3: 30,684,142 (GRCm39)	F342I	probably benign	Het
Lyzl6	A	G	11: 103,527,578 (GRCm39)		probably null	Het
Map3k4	A	C	17: 12,476,928 (GRCm39)		probably benign	Het
Mocs3	C	T	2: 168,073,602 (GRCm39)	P350S	probably benign	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Or1ad8	A	G	11: 50,897,904 (GRCm39)	Y35C	probably damaging	Het
Or4c52	A	C	2: 89,846,116 (GRCm39)	I281L	probably damaging	Het
Or7e168	G	T	9: 19,719,839 (GRCm39)	S75I	probably damaging	Het
Pcare	G	T	17: 72,057,471 (GRCm39)	F735L	probably damaging	Het
Pdzrn4	A	G	15: 92,655,538 (GRCm39)	E477G	possibly damaging	Het
Rab5b	C	T	10: 128,518,772 (GRCm39)	R120Q	probably benign	Het
Rims2	G	T	15: 39,326,011 (GRCm39)		probably null	Het
Samd4b	C	T	7: 28,122,873 (GRCm39)	A62T	probably damaging	Het
Scamp1	T	C	13: 94,347,088 (GRCm39)	N192S	probably benign	Het
Scnn1g	T	C	7: 121,345,802 (GRCm39)		probably benign	Het
Setd1a	T	G	7: 127,387,358 (GRCm39)		probably benign	Het
Setdb1	A	G	3: 95,257,192 (GRCm39)		probably benign	Het
Slc2a7	T	C	4: 150,250,823 (GRCm39)	S415P	probably benign	Het
Sp140l2	G	T	1: 85,247,824 (GRCm39)		probably benign	Het
Strip2	A	T	6: 29,937,650 (GRCm39)	Y526F	possibly damaging	Het
Styxl2	T	A	1: 165,928,332 (GRCm39)	T427S	probably benign	Het
Syne2	A	G	12: 75,926,951 (GRCm39)	D69G	probably damaging	Het
Syt13	C	A	2: 92,745,596 (GRCm39)	A22E	probably benign	Het
Tm9sf2	T	C	14: 122,392,780 (GRCm39)	F432S	probably benign	Het
Vmn2r49	A	T	7: 9,710,357 (GRCm39)	W792R	probably damaging	Het
Zfp292	T	C	4: 34,808,227 (GRCm39)	S1606G	probably benign	Het
Zfp518a	A	T	19: 40,900,665 (GRCm39)	H198L	probably damaging	Het

Other mutations in Loxhd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00330:Loxhd1	APN	18	77,483,146 (GRCm39)	missense	probably damaging	0.99
IGL00490:Loxhd1	APN	18	77,518,770 (GRCm39)	missense	possibly damaging	0.94
IGL00507:Loxhd1	APN	18	77,420,263 (GRCm39)	missense	probably benign	0.03
IGL00546:Loxhd1	APN	18	77,493,672 (GRCm39)	missense	probably damaging	0.97
IGL01369:Loxhd1	APN	18	77,416,897 (GRCm39)	missense	possibly damaging	0.85
IGL01767:Loxhd1	APN	18	77,374,120 (GRCm39)	missense	possibly damaging	0.71
IGL02245:Loxhd1	APN	18	77,427,797 (GRCm39)	missense	possibly damaging	0.71
IGL02388:Loxhd1	APN	18	77,456,833 (GRCm39)	missense	probably benign	0.18
IGL02410:Loxhd1	APN	18	77,490,648 (GRCm39)	missense	probably benign	0.02
IGL02593:Loxhd1	APN	18	77,498,235 (GRCm39)	missense	possibly damaging	0.91
IGL02632:Loxhd1	APN	18	77,493,628 (GRCm39)	missense	probably damaging	0.99
IGL02692:Loxhd1	APN	18	77,444,609 (GRCm39)	missense	probably damaging	0.99
IGL02796:Loxhd1	APN	18	77,456,811 (GRCm39)	splice site	probably benign
IGL03032:Loxhd1	APN	18	77,374,169 (GRCm39)	missense	possibly damaging	0.93
IGL03074:Loxhd1	APN	18	77,529,480 (GRCm39)	missense	possibly damaging	0.75
IGL03094:Loxhd1	APN	18	77,518,809 (GRCm39)	missense	possibly damaging	0.88
IGL03118:Loxhd1	APN	18	77,468,160 (GRCm39)	missense	probably damaging	1.00
IGL03232:Loxhd1	APN	18	77,496,446 (GRCm39)	missense	probably damaging	1.00
IGL03377:Loxhd1	APN	18	77,529,369 (GRCm39)	missense	possibly damaging	0.91
H8562:Loxhd1	UTSW	18	77,429,627 (GRCm39)	missense	possibly damaging	0.93
PIT4494001:Loxhd1	UTSW	18	77,529,464 (GRCm39)	missense	probably damaging	0.99
R0003:Loxhd1	UTSW	18	77,427,196 (GRCm39)	missense	probably damaging	0.98
R0003:Loxhd1	UTSW	18	77,427,196 (GRCm39)	missense	probably damaging	0.98
R0048:Loxhd1	UTSW	18	77,496,474 (GRCm39)	missense	probably damaging	0.99
R0049:Loxhd1	UTSW	18	77,468,256 (GRCm39)	splice site	probably benign
R0049:Loxhd1	UTSW	18	77,468,256 (GRCm39)	splice site	probably benign
R0206:Loxhd1	UTSW	18	77,492,562 (GRCm39)	missense	possibly damaging	0.90
R0206:Loxhd1	UTSW	18	77,492,562 (GRCm39)	missense	possibly damaging	0.90
R0208:Loxhd1	UTSW	18	77,492,562 (GRCm39)	missense	possibly damaging	0.90
R0323:Loxhd1	UTSW	18	77,456,833 (GRCm39)	missense	probably benign	0.18
R0332:Loxhd1	UTSW	18	77,471,526 (GRCm39)	splice site	probably null
R0709:Loxhd1	UTSW	18	77,492,665 (GRCm39)	missense	probably benign	0.23
R0783:Loxhd1	UTSW	18	77,517,680 (GRCm39)	missense	possibly damaging	0.58
R1132:Loxhd1	UTSW	18	77,517,639 (GRCm39)	missense	possibly damaging	0.71
R1232:Loxhd1	UTSW	18	77,493,699 (GRCm39)	critical splice donor site	probably null
R1331:Loxhd1	UTSW	18	77,490,632 (GRCm39)	missense	possibly damaging	0.86
R1465:Loxhd1	UTSW	18	77,468,269 (GRCm39)	splice site	probably null
R1465:Loxhd1	UTSW	18	77,468,269 (GRCm39)	splice site	probably null
R1501:Loxhd1	UTSW	18	77,444,528 (GRCm39)	missense	probably damaging	1.00
R1640:Loxhd1	UTSW	18	77,490,259 (GRCm39)	missense	probably damaging	1.00
R1656:Loxhd1	UTSW	18	77,409,364 (GRCm39)	missense	possibly damaging	0.71
R1671:Loxhd1	UTSW	18	77,492,498 (GRCm39)	missense	probably damaging	1.00
R1725:Loxhd1	UTSW	18	77,380,937 (GRCm39)	missense	probably benign	0.32
R1735:Loxhd1	UTSW	18	77,492,585 (GRCm39)	missense	probably damaging	0.98
R1796:Loxhd1	UTSW	18	77,513,335 (GRCm39)	missense	possibly damaging	0.88
R1796:Loxhd1	UTSW	18	77,493,603 (GRCm39)	missense	probably damaging	0.96
R1800:Loxhd1	UTSW	18	77,490,198 (GRCm39)	missense	probably damaging	1.00
R1848:Loxhd1	UTSW	18	77,369,667 (GRCm39)	missense	possibly damaging	0.53
R1912:Loxhd1	UTSW	18	77,427,833 (GRCm39)	missense	probably benign	0.32
R1945:Loxhd1	UTSW	18	77,492,504 (GRCm39)	missense	probably damaging	1.00
R1978:Loxhd1	UTSW	18	77,409,338 (GRCm39)	missense	possibly damaging	0.86
R1997:Loxhd1	UTSW	18	77,383,465 (GRCm39)	missense	probably damaging	0.98
R2086:Loxhd1	UTSW	18	77,472,642 (GRCm39)	missense	probably damaging	1.00
R2153:Loxhd1	UTSW	18	77,443,862 (GRCm39)	missense	possibly damaging	0.72
R3124:Loxhd1	UTSW	18	77,518,774 (GRCm39)	missense	probably damaging	0.97
R3896:Loxhd1	UTSW	18	77,469,719 (GRCm39)	missense	possibly damaging	0.65
R3907:Loxhd1	UTSW	18	77,496,464 (GRCm39)	missense	possibly damaging	0.60
R3980:Loxhd1	UTSW	18	77,501,855 (GRCm39)	missense	probably damaging	1.00
R4165:Loxhd1	UTSW	18	77,460,025 (GRCm39)	missense	probably damaging	0.99
R4166:Loxhd1	UTSW	18	77,460,025 (GRCm39)	missense	probably damaging	0.99
R4176:Loxhd1	UTSW	18	77,418,755 (GRCm39)	missense	possibly damaging	0.53
R4345:Loxhd1	UTSW	18	77,486,697 (GRCm39)	missense	possibly damaging	0.89
R4354:Loxhd1	UTSW	18	77,483,123 (GRCm39)	missense	probably damaging	1.00
R4385:Loxhd1	UTSW	18	77,460,607 (GRCm39)	missense	probably damaging	0.99
R4402:Loxhd1	UTSW	18	77,529,456 (GRCm39)	missense	possibly damaging	0.94
R4404:Loxhd1	UTSW	18	77,518,828 (GRCm39)	missense	probably damaging	1.00
R4456:Loxhd1	UTSW	18	77,486,785 (GRCm39)	missense	probably damaging	1.00
R4525:Loxhd1	UTSW	18	77,444,608 (GRCm39)	missense	probably damaging	0.98
R4605:Loxhd1	UTSW	18	77,493,642 (GRCm39)	missense	probably benign	0.00
R4661:Loxhd1	UTSW	18	77,490,581 (GRCm39)	missense	possibly damaging	0.79
R4698:Loxhd1	UTSW	18	77,459,987 (GRCm39)	missense	possibly damaging	0.82
R4725:Loxhd1	UTSW	18	77,483,153 (GRCm39)	missense	probably damaging	1.00
R4820:Loxhd1	UTSW	18	77,472,663 (GRCm39)	missense	probably damaging	1.00
R5163:Loxhd1	UTSW	18	77,449,432 (GRCm39)	missense	possibly damaging	0.92
R5288:Loxhd1	UTSW	18	77,451,308 (GRCm39)	missense	probably damaging	1.00
R5328:Loxhd1	UTSW	18	77,498,268 (GRCm39)	missense	probably damaging	1.00
R5329:Loxhd1	UTSW	18	77,420,378 (GRCm39)	missense	probably damaging	0.98
R5347:Loxhd1	UTSW	18	77,454,237 (GRCm39)	missense	probably damaging	1.00
R5589:Loxhd1	UTSW	18	77,429,751 (GRCm39)	missense	possibly damaging	0.86
R5616:Loxhd1	UTSW	18	77,492,647 (GRCm39)	missense	probably damaging	1.00
R5703:Loxhd1	UTSW	18	77,444,573 (GRCm39)	missense	probably damaging	1.00
R5837:Loxhd1	UTSW	18	77,374,105 (GRCm39)	missense	possibly damaging	0.71
R5888:Loxhd1	UTSW	18	77,490,211 (GRCm39)	missense	probably damaging	0.99
R6021:Loxhd1	UTSW	18	77,499,946 (GRCm39)	missense	probably damaging	1.00
R6032:Loxhd1	UTSW	18	77,469,254 (GRCm39)	missense	probably damaging	1.00
R6032:Loxhd1	UTSW	18	77,469,254 (GRCm39)	missense	probably damaging	1.00
R6153:Loxhd1	UTSW	18	77,383,454 (GRCm39)	missense	possibly damaging	0.71
R6174:Loxhd1	UTSW	18	77,499,874 (GRCm39)	missense	probably damaging	1.00
R6265:Loxhd1	UTSW	18	77,449,426 (GRCm39)	missense	probably damaging	0.99
R6377:Loxhd1	UTSW	18	77,468,128 (GRCm39)	missense	probably damaging	1.00
R6530:Loxhd1	UTSW	18	77,499,847 (GRCm39)	missense	probably benign	0.30
R6555:Loxhd1	UTSW	18	77,380,965 (GRCm39)	missense	possibly damaging	0.51
R6782:Loxhd1	UTSW	18	77,518,873 (GRCm39)	missense	probably damaging	0.99
R6834:Loxhd1	UTSW	18	77,529,222 (GRCm39)	missense	probably damaging	1.00
R7000:Loxhd1	UTSW	18	77,460,129 (GRCm39)	critical splice donor site	probably null
R7112:Loxhd1	UTSW	18	77,476,210 (GRCm39)	missense	probably damaging	1.00
R7203:Loxhd1	UTSW	18	77,501,892 (GRCm39)	missense	probably damaging	0.97
R7206:Loxhd1	UTSW	18	77,529,513 (GRCm39)	missense	probably damaging	0.97
R7260:Loxhd1	UTSW	18	77,420,338 (GRCm39)	missense	possibly damaging	0.93
R7432:Loxhd1	UTSW	18	77,383,547 (GRCm39)	missense	possibly damaging	0.51
R7475:Loxhd1	UTSW	18	77,500,001 (GRCm39)	missense	possibly damaging	0.83
R7555:Loxhd1	UTSW	18	77,483,061 (GRCm39)	missense	probably damaging	0.99
R7590:Loxhd1	UTSW	18	77,409,330 (GRCm39)	missense	possibly damaging	0.84
R7612:Loxhd1	UTSW	18	77,517,671 (GRCm39)	missense	possibly damaging	0.95
R7626:Loxhd1	UTSW	18	77,518,882 (GRCm39)	missense	possibly damaging	0.75
R7768:Loxhd1	UTSW	18	77,472,637 (GRCm39)	missense	probably damaging	0.99
R7791:Loxhd1	UTSW	18	77,471,425 (GRCm39)	missense	probably damaging	1.00
R7829:Loxhd1	UTSW	18	77,496,483 (GRCm39)	missense	probably damaging	0.99
R7884:Loxhd1	UTSW	18	77,518,909 (GRCm39)	missense	probably damaging	0.98
R7960:Loxhd1	UTSW	18	77,472,746 (GRCm39)	missense	probably damaging	0.99
R7986:Loxhd1	UTSW	18	77,462,890 (GRCm39)	missense	possibly damaging	0.88
R8042:Loxhd1	UTSW	18	77,518,888 (GRCm39)	missense	probably damaging	0.99
R8084:Loxhd1	UTSW	18	77,427,845 (GRCm39)	missense	possibly damaging	0.71
R8088:Loxhd1	UTSW	18	77,429,709 (GRCm39)	missense	possibly damaging	0.52
R8100:Loxhd1	UTSW	18	77,492,512 (GRCm39)	missense	possibly damaging	0.69
R8139:Loxhd1	UTSW	18	77,468,192 (GRCm39)	missense	possibly damaging	0.95
R8152:Loxhd1	UTSW	18	77,476,095 (GRCm39)	missense	possibly damaging	0.62
R8199:Loxhd1	UTSW	18	77,469,334 (GRCm39)	missense	possibly damaging	0.77
R8246:Loxhd1	UTSW	18	77,451,242 (GRCm39)	missense	possibly damaging	0.71
R8263:Loxhd1	UTSW	18	77,462,858 (GRCm39)	missense	probably damaging	1.00
R8324:Loxhd1	UTSW	18	77,427,275 (GRCm39)	critical splice donor site	probably null
R8342:Loxhd1	UTSW	18	77,493,681 (GRCm39)	missense	possibly damaging	0.88
R8401:Loxhd1	UTSW	18	77,468,156 (GRCm39)	missense	probably damaging	1.00
R8480:Loxhd1	UTSW	18	77,518,827 (GRCm39)	missense	probably damaging	1.00
R8490:Loxhd1	UTSW	18	77,529,162 (GRCm39)	missense	possibly damaging	0.96
R8807:Loxhd1	UTSW	18	77,444,468 (GRCm39)	missense	possibly damaging	0.93
R8961:Loxhd1	UTSW	18	77,472,765 (GRCm39)	missense	probably damaging	1.00
R8974:Loxhd1	UTSW	18	77,518,899 (GRCm39)	missense	possibly damaging	0.88
R9079:Loxhd1	UTSW	18	77,490,593 (GRCm39)	missense	probably benign
R9284:Loxhd1	UTSW	18	77,501,826 (GRCm39)	missense	probably damaging	0.97
R9312:Loxhd1	UTSW	18	77,498,285 (GRCm39)	missense	probably benign	0.05
R9619:Loxhd1	UTSW	18	77,443,871 (GRCm39)	missense	probably benign	0.32
X0020:Loxhd1	UTSW	18	77,427,258 (GRCm39)	nonsense	probably null
X0024:Loxhd1	UTSW	18	77,483,099 (GRCm39)	missense	probably damaging	1.00
X0062:Loxhd1	UTSW	18	77,529,212 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTCCTGGATGGCACCTGAGCTAC -3'
(R):5'- CTCTGGATTGGCCTCCATCAACAC -3'

Sequencing Primer
(F):5'- CGTTGATGTGAAGGACAACTCC -3'
(R):5'- cgcacgcctttagtccc -3'

Posted On

2013-04-24