Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03074:Loxhd1'

417628

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL03074

Quality Score

Status

Chromosome

Chromosomal Location

77369654-77530626 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77529480 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 2041 (V2041A)

Ref Sequence

ENSEMBL: ENSMUSP00000094294 (fasta)

Gene Model

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

AlphaFold

C8YR32

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096547
AA Change: V2041A

PolyPhen 2 Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000094294
Gene: ENSMUSG00000032818
AA Change: V2041A

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

possibly damaging
Transcript: ENSMUST00000123166
AA Change: V489A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000116287
Gene: ENSMUSG00000032818
AA Change: V489A

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

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	A	11: 110,201,101 (GRCm39)	Y433F	probably benign	Het
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Anks4b	A	T	7: 119,781,140 (GRCm39)	D57V	probably damaging	Het
Brwd1	A	G	16: 95,813,050 (GRCm39)	V1486A	probably benign	Het
Cd163	A	G	6: 124,294,945 (GRCm39)	T670A	probably benign	Het
Dmtf1	T	C	5: 9,174,435 (GRCm39)		probably benign	Het
Dnajc22	T	A	15: 98,999,403 (GRCm39)	L196Q	probably damaging	Het
Dock9	A	G	14: 121,844,682 (GRCm39)	L1097P	possibly damaging	Het
Dtna	T	C	18: 23,735,662 (GRCm39)	V339A	possibly damaging	Het
Dysf	T	A	6: 84,165,208 (GRCm39)	S1646T	probably benign	Het
Ermp1	A	T	19: 29,589,935 (GRCm39)	Y893N	probably damaging	Het
Etv6	A	T	6: 134,199,888 (GRCm39)	N76I	probably damaging	Het
Farp2	T	C	1: 93,488,049 (GRCm39)	V92A	probably benign	Het
Fgf21	T	C	7: 45,263,605 (GRCm39)	T158A	probably benign	Het
Gcm1	T	C	9: 77,972,057 (GRCm39)	S333P	possibly damaging	Het
Grm7	T	A	6: 111,472,604 (GRCm39)		probably null	Het
Itgae	T	C	11: 73,016,136 (GRCm39)	F782L	probably benign	Het
Kbtbd8	A	G	6: 95,099,333 (GRCm39)	T204A	probably damaging	Het
Kcp	A	G	6: 29,496,630 (GRCm39)	C627R	probably damaging	Het
Mcm5	T	C	8: 75,845,929 (GRCm39)	M379T	possibly damaging	Het
Mcu	A	G	10: 59,303,580 (GRCm39)	S86P	probably damaging	Het
Naa25	T	C	5: 121,546,400 (GRCm39)		probably null	Het
Or10ag59	T	A	2: 87,405,680 (GRCm39)	L84H	possibly damaging	Het
Or5b117	A	G	19: 13,431,417 (GRCm39)	S155P	probably damaging	Het
Osbpl9	T	C	4: 108,929,158 (GRCm39)	H400R	probably damaging	Het
Pip5kl1	A	G	2: 32,470,353 (GRCm39)	N278D	probably damaging	Het
Ppp1r12b	T	C	1: 134,763,758 (GRCm39)	T759A	probably benign	Het
Psg27	T	C	7: 18,294,454 (GRCm39)	T318A	probably benign	Het
Rtkn2	T	G	10: 67,877,551 (GRCm39)	L537R	probably damaging	Het
Sdr39u1	C	T	14: 56,137,103 (GRCm39)		probably null	Het
Slc38a1	A	T	15: 96,490,405 (GRCm39)	I124N	possibly damaging	Het
Sumf2	T	A	5: 129,888,674 (GRCm39)		probably benign	Het
Thsd7a	A	G	6: 12,324,680 (GRCm39)	Y1464H	probably damaging	Het
Unc80	C	T	1: 66,710,877 (GRCm39)		probably benign	Het
Zfp366	A	G	13: 99,382,913 (GRCm39)	D692G	probably benign	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
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
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

Posted On

2016-08-02