Mutagenetix > Incidental Mutation

Incidental Mutation 'R5329:Loxhd1'

422250

Institutional Source

Beutler Lab

Gene Symbol

Loxhd1

Ensembl Gene

ENSMUSG00000032818

Gene Name

lipoxygenase homology domains 1

Synonyms

1700096C21Rik, sba

MMRRC Submission

042911-MU

Accession Numbers

Essential gene?

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

Stock #

R5329 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77369654-77530626 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77420378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 334 (L334P)

Ref Sequence

ENSEMBL: ENSMUSP00000094294 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035501] [ENSMUST00000096547] [ENSMUST00000148341]

AlphaFold

C8YR32

Predicted Effect

unknown
Transcript: ENSMUST00000035501
AA Change: L101P

SMART Domains

Protein: ENSMUSP00000045450
Gene: ENSMUSG00000032818
AA Change: L101P

Domain	Start	End	E-Value	Type
Pfam:PLAT	1	53	3.2e-7	PFAM
LH2	63	176	1.1e-4	SMART
LH2	192	306	4.02e-4	SMART
LH2	320	442	3.79e-6	SMART
LH2	451	567	5.92e-6	SMART
LH2	581	696	7.67e-3	SMART
LH2	793	913	1.47e-11	SMART
low complexity region	922	931	N/A	INTRINSIC
SCOP:d1lox_2	949	974	1e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000096547
AA Change: L334P

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000094294
Gene: ENSMUSG00000032818
AA Change: L334P

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

unknown
Transcript: ENSMUST00000148341
AA Change: L15P

SMART Domains

Protein: ENSMUSP00000114988
Gene: ENSMUSG00000032818
AA Change: L15P

Domain	Start	End	E-Value	Type
Pfam:PLAT	1	91	1.7e-11	PFAM
LH2	106	220	4.02e-4	SMART
LH2	234	356	3.79e-6	SMART
LH2	365	481	5.92e-6	SMART
LH2	495	610	7.67e-3	SMART
LH2	707	827	1.47e-11	SMART
low complexity region	836	845	N/A	INTRINSIC
LH2	861	977	4.81e-7	SMART
LH2	992	1119	5.73e-3	SMART
LH2	1146	1266	8.82e-5	SMART
Pfam:PLAT	1384	1469	8.9e-14	PFAM

Meta Mutation Damage Score

0.8166

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (61/62)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430005L14Rik	G	A	4: 154,044,284 (GRCm39)	V32I	probably benign	Het
Abcg4	A	T	9: 44,190,842 (GRCm39)	M19K	probably benign	Het
Acsm1	A	G	7: 119,255,274 (GRCm39)	T392A	probably benign	Het
Adam19	A	T	11: 46,015,853 (GRCm39)	I338F	probably damaging	Het
Adamdec1	C	T	14: 68,807,612 (GRCm39)	M349I	probably damaging	Het
Arhgef11	T	A	3: 87,587,059 (GRCm39)		probably benign	Het
Bptf	T	C	11: 106,964,121 (GRCm39)	D1628G	probably benign	Het
Camk2d	C	T	3: 126,391,131 (GRCm39)	Q15*	probably null	Het
Camk2g	T	G	14: 20,843,999 (GRCm39)	D12A	possibly damaging	Het
Cemip2	T	C	19: 21,775,693 (GRCm39)	I312T	probably benign	Het
Cgn	T	C	3: 94,687,300 (GRCm39)	M1V	probably null	Het
Clec16a	G	A	16: 10,549,543 (GRCm39)	C872Y	probably damaging	Het
Dcbld1	C	A	10: 52,160,353 (GRCm39)		probably benign	Het
Ear-ps2	G	A	14: 44,284,517 (GRCm39)		noncoding transcript	Het
Efcab3	T	G	11: 104,644,632 (GRCm39)		probably null	Het
Espl1	T	A	15: 102,220,953 (GRCm39)	L903Q	probably damaging	Het
Gm5117	T	A	8: 32,227,910 (GRCm39)		noncoding transcript	Het
Gm5150	T	C	3: 16,017,588 (GRCm39)	T228A	probably benign	Het
Gm5435	A	T	12: 82,543,250 (GRCm39)		noncoding transcript	Het
Gpr156	T	A	16: 37,825,810 (GRCm39)	C676S	probably benign	Het
Gstt3	C	T	10: 75,610,685 (GRCm39)	E230K	possibly damaging	Het
Jarid2	A	G	13: 45,059,747 (GRCm39)	I660V	possibly damaging	Het
Kif13a	A	G	13: 46,928,877 (GRCm39)		probably null	Het
Kntc1	T	A	5: 123,902,254 (GRCm39)	V299D	probably benign	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Lipk	T	A	19: 33,997,613 (GRCm39)		probably null	Het
Macc1	T	A	12: 119,410,212 (GRCm39)	Y327N	probably damaging	Het
Man2a2	G	A	7: 80,010,876 (GRCm39)	S705L	possibly damaging	Het
Mmp1b	T	C	9: 7,384,897 (GRCm39)	I251V	possibly damaging	Het
Ncam2	A	T	16: 81,231,707 (GRCm39)	Q57L	probably damaging	Het
Nedd1	T	C	10: 92,522,102 (GRCm39)	E645G	probably damaging	Het
Nfatc1	A	T	18: 80,751,332 (GRCm39)	M1K	probably null	Het
Nlrp9b	A	T	7: 19,757,916 (GRCm39)	R384S	probably damaging	Het
Nrxn3	A	G	12: 89,780,354 (GRCm39)	H62R	possibly damaging	Het
Or2h2b-ps1	T	A	17: 37,480,891 (GRCm39)	Y216F	probably damaging	Het
Or4c125	T	A	2: 89,169,803 (GRCm39)	Y281F	probably damaging	Het
Or51i1	T	C	7: 103,671,204 (GRCm39)	H107R	probably damaging	Het
Or8b39	A	T	9: 37,996,422 (GRCm39)	M97L	probably benign	Het
Or8h7	A	G	2: 86,720,964 (GRCm39)	L185S	probably damaging	Het
Pdzph1	T	A	17: 59,281,875 (GRCm39)	I136F	probably damaging	Het
Pigg	T	C	5: 108,462,026 (GRCm39)	I119T	probably damaging	Het
R3hdm2	A	G	10: 127,294,762 (GRCm39)	H215R	probably damaging	Het
Septin14	C	T	5: 129,762,978 (GRCm39)		probably null	Het
Slc9a3	T	C	13: 74,299,079 (GRCm39)	M166T	possibly damaging	Het
Spock3	A	G	8: 63,798,816 (GRCm39)	D279G	probably damaging	Het
Suco	T	C	1: 161,660,999 (GRCm39)	I967V	probably damaging	Het
Tgtp1	A	G	11: 48,878,003 (GRCm39)	L234P	probably damaging	Het
Tmem176a	A	G	6: 48,819,151 (GRCm39)	D4G	probably benign	Het
Ugt1a10	G	A	1: 88,143,976 (GRCm39)	A199T	probably damaging	Het
Uox	A	G	3: 146,330,300 (GRCm39)	D152G	probably damaging	Het
Vmn1r35	C	T	6: 66,656,490 (GRCm39)	W60*	probably null	Het
Vmn2r103	T	C	17: 20,032,433 (GRCm39)	C736R	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
R0367:Loxhd1	UTSW	18	77,513,453 (GRCm39)	splice site	probably benign
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
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'- AGACTGGTCTGAGTGTGTAAAATG -3'
(R):5'- TACTGACCCAGAGACCGTTC -3'

Sequencing Primer
(F):5'- TGGAGACAGAGGGATGTTCC -3'
(R):5'- AGAGACCGTTCACAGGCTG -3'

Posted On

2016-08-04