Mutagenetix > Incidental Mutation

Incidental Mutation 'R4345:Loxhd1'

324314

Institutional Source

Beutler Lab

Gene Symbol

Loxhd1

Ensembl Gene

ENSMUSG00000032818

Gene Name

lipoxygenase homology domains 1

Synonyms

1700096C21Rik, sba

MMRRC Submission

041666-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.183) question?

Stock #

R4345 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77369654-77530626 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77486697 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1261 (I1261V)

Ref Sequence

ENSEMBL: ENSMUSP00000094294 (fasta)

Gene Model

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

AlphaFold

C8YR32

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096547
AA Change: I1261V

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000094294
Gene: ENSMUSG00000032818
AA Change: I1261V

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: ENSMUST00000123410
AA Change: I395V

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000120991
Gene: ENSMUSG00000032818
AA Change: I395V

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
AA Change: I1152V

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000114988
Gene: ENSMUSG00000032818
AA Change: I1152V

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

0.1254

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

96% (47/49)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asap2	T	C	12: 21,280,832 (GRCm39)	W449R	probably damaging	Het
Astn1	T	A	1: 158,329,602 (GRCm39)		probably null	Het
C3ar1	T	C	6: 122,827,659 (GRCm39)	D186G	probably damaging	Het
Fbf1	A	G	11: 116,038,568 (GRCm39)	V851A	probably benign	Het
Foxp4	G	A	17: 48,185,573 (GRCm39)	T500M	unknown	Het
Gm5878	G	A	6: 85,102,633 (GRCm39)	R31*	probably null	Het
Gramd4	T	C	15: 86,019,094 (GRCm39)	S581P	probably damaging	Het
Heatr5b	A	T	17: 79,067,940 (GRCm39)	V1816E	possibly damaging	Het
Igf2r	C	T	17: 12,928,398 (GRCm39)	E982K	possibly damaging	Het
Il1r1	A	G	1: 40,337,084 (GRCm39)	D224G	probably benign	Het
Kcnv1	G	A	15: 44,977,840 (GRCm39)	T66M	probably damaging	Het
Lactb2	T	A	1: 13,730,574 (GRCm39)	Y34F	probably damaging	Het
Lepr	G	A	4: 101,622,349 (GRCm39)		probably null	Het
Map4k3	A	G	17: 80,904,980 (GRCm39)		probably null	Het
Mcee	T	C	7: 64,061,686 (GRCm39)	L109P	probably damaging	Het
Mier3	A	G	13: 111,841,817 (GRCm39)	D124G	probably damaging	Het
Mrpl43	T	C	19: 44,994,549 (GRCm39)	Y64C	probably damaging	Het
Nfasc	A	G	1: 132,559,443 (GRCm39)	F229S	probably damaging	Het
Nsd3	G	C	8: 26,131,333 (GRCm39)	G233R	probably benign	Het
Or2ak7	A	G	11: 58,574,771 (GRCm39)	D24G	possibly damaging	Het
Or8k27	T	A	2: 86,276,189 (GRCm39)	I46F	probably damaging	Het
Pdzd8	T	C	19: 59,288,560 (GRCm39)	T947A	probably benign	Het
Plod3	G	C	5: 137,017,000 (GRCm39)	A50P	probably benign	Het
Pno1	A	G	11: 17,159,095 (GRCm39)	S158P	possibly damaging	Het
Prr14l	A	G	5: 32,985,920 (GRCm39)	S1192P	probably damaging	Het
Setbp1	T	A	18: 79,129,794 (GRCm39)	E146V	probably damaging	Het
Slc9a5	T	C	8: 106,076,087 (GRCm39)	S27P	probably benign	Het
Sri	G	T	5: 8,109,427 (GRCm39)		probably null	Het
Stard9	G	A	2: 120,532,427 (GRCm39)	V2895I	probably benign	Het
Tgfbrap1	T	C	1: 43,095,866 (GRCm39)	D524G	probably benign	Het
Them4	A	G	3: 94,237,172 (GRCm39)	T211A	possibly damaging	Het
Thoc2l	A	G	5: 104,669,315 (GRCm39)	E1279G	probably benign	Het
Trpm3	A	T	19: 22,875,061 (GRCm39)	S568C	probably damaging	Het
Ttl	T	C	2: 128,917,778 (GRCm39)	L80P	probably damaging	Het
Ttn	G	T	2: 76,586,660 (GRCm39)	N13423K	possibly damaging	Het
Usp10	T	A	8: 120,681,553 (GRCm39)	L670Q	probably damaging	Het
Usp4	T	A	9: 108,245,222 (GRCm39)		probably benign	Het
Vmn1r72	T	A	7: 11,403,963 (GRCm39)	T162S	possibly damaging	Het
Zmym5	T	C	14: 57,034,083 (GRCm39)	N376S	probably benign	Het
Zswim6	G	T	13: 107,863,466 (GRCm39)		noncoding transcript	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
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'- TCTGAGGGGTGACATCTGAC -3'
(R):5'- ACAGAATTCCAAAAGTTGTGGC -3'

Sequencing Primer
(F):5'- GTGACATCTGACTGAAGCCC -3'
(R):5'- TCCAAAAGTTGTGGCTTTCAG -3'

Posted On

2015-06-24