Mutagenetix > Incidental Mutation

Incidental Mutation 'R4605:Loxhd1'

345982

Institutional Source

Beutler Lab

Gene Symbol

Loxhd1

Ensembl Gene

ENSMUSG00000032818

Gene Name

lipoxygenase homology domains 1

Synonyms

1700096C21Rik, sba

Accession Numbers

Essential gene?

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

Stock #

R4605 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77369654-77530626 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 77493642 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 668 (V668I)

Ref Sequence

ENSEMBL: ENSMUSP00000120991 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096547] [ENSMUST00000123166] [ENSMUST00000123410] [ENSMUST00000148341]

AlphaFold

C8YR32

Predicted Effect

probably benign
Transcript: ENSMUST00000096547
AA Change: V1534I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000094294
Gene: ENSMUSG00000032818
AA Change: V1534I

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
AA Change: V668I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000120991
Gene: ENSMUSG00000032818
AA Change: V668I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000148341

SMART Domains

Protein: ENSMUSP00000114988
Gene: ENSMUSG00000032818

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankra2	A	G	13: 98,402,742 (GRCm39)		probably benign	Het
Atp9b	T	A	18: 80,796,364 (GRCm39)		probably null	Het
Birc6	G	A	17: 74,946,929 (GRCm39)	D2885N	probably damaging	Het
Chaf1b	A	T	16: 93,684,977 (GRCm39)	N142I	possibly damaging	Het
Ckap5	G	A	2: 91,406,559 (GRCm39)	G787S	probably damaging	Het
Ctc1	G	T	11: 68,920,552 (GRCm39)	C372F	possibly damaging	Het
Dip2b	A	G	15: 100,107,517 (GRCm39)	T1176A	probably benign	Het
Epha10	A	G	4: 124,779,550 (GRCm39)	E132G	probably damaging	Het
Extl1	A	G	4: 134,087,145 (GRCm39)	V471A	probably benign	Het
Fgd6	T	C	10: 93,880,217 (GRCm39)	L357P	probably benign	Het
Gapvd1	A	T	2: 34,618,549 (GRCm39)	C275S	probably damaging	Het
Kcnj2	G	A	11: 110,963,676 (GRCm39)	C356Y	probably damaging	Het
Kcnk10	T	C	12: 98,456,219 (GRCm39)	D204G	probably damaging	Het
Krtap9-1	A	C	11: 99,764,579 (GRCm39)	E105A	unknown	Het
Ly86	T	C	13: 37,558,987 (GRCm39)	I62T	possibly damaging	Het
Maip1	A	G	1: 57,450,891 (GRCm39)	I178V	probably benign	Het
Mical3	G	A	6: 121,011,041 (GRCm39)	Q386*	probably null	Het
Or5an11	T	C	19: 12,246,532 (GRCm39)	*313Q	probably null	Het
Or5b107	T	A	19: 13,142,612 (GRCm39)	V78D	probably damaging	Het
Or5p52	A	C	7: 107,502,445 (GRCm39)	I174L	probably benign	Het
Or8j3b	G	A	2: 86,205,141 (GRCm39)	T205I	probably benign	Het
Pcdha12	T	C	18: 37,154,576 (GRCm39)	S432P	probably damaging	Het
Prex1	A	T	2: 166,555,464 (GRCm39)	Y59N	probably benign	Het
Sbf1	A	G	15: 89,187,684 (GRCm39)	F654L	probably damaging	Het
Sh2d5	T	A	4: 137,984,566 (GRCm39)	Y187*	probably null	Het
Slc9a4	T	C	1: 40,640,195 (GRCm39)		probably null	Het
Smyd2	A	G	1: 189,629,623 (GRCm39)	S136P	probably damaging	Het
Spata31e2	T	C	1: 26,722,267 (GRCm39)	K971R	probably benign	Het
Srsf11	A	T	3: 157,728,560 (GRCm39)	L115*	probably null	Het
Tbx19	C	T	1: 164,981,153 (GRCm39)	V114I	possibly damaging	Het
Unc5b	A	G	10: 60,610,182 (GRCm39)	V545A	probably benign	Het
Ush2a	A	G	1: 188,642,998 (GRCm39)	Y4120C	probably damaging	Het
Vps13a	T	C	19: 16,617,403 (GRCm39)	T3002A	probably damaging	Het
Zkscan2	A	T	7: 123,097,947 (GRCm39)	W150R	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
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'- AGCTCTGCCGAGATTCTCAC -3'
(R):5'- CCAGGAGACTTCTCGAATGTC -3'

Sequencing Primer
(F):5'- TGCCGAGATTCTCACAGGGATTC -3'
(R):5'- CAGGAGACTTCTCGAATGTCATACAG -3'

Posted On

2015-09-25