Mutagenetix > Incidental Mutations

Incidental Mutation 'R7475:Loxhd1'

579457

Institutional Source

Beutler Lab

Gene Symbol

Loxhd1

Ensembl Gene

ENSMUSG00000032818

Gene Name

lipoxygenase homology domains 1

Synonyms

sba, 1700096C21Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R7475 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

77281958-77442341 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 77412305 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1690 (D1690E)

Ref Sequence

ENSEMBL: ENSMUSP00000094294 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096547
AA Change: D1690E

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000094294
Gene: ENSMUSG00000032818
AA Change: D1690E

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: D138E

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000116287
Gene: ENSMUSG00000032818
AA Change: D138E

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

possibly damaging
Transcript: ENSMUST00000123410
AA Change: D824E

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000120991
Gene: ENSMUSG00000032818
AA Change: D824E

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	T	16: 20,399,989	N214K	probably benign	Het
Abcf1	A	G	17: 35,963,567		probably null	Het
Agxt2	A	T	15: 10,409,537	M508L	probably benign	Het
Akr1c21	A	T	13: 4,576,319	Y114F	probably benign	Het
Amz1	T	C	5: 140,744,186		probably null	Het
Ank1	G	T	8: 23,132,630	A1732S	probably benign	Het
Atg16l1	T	C	1: 87,760,083	S50P	possibly damaging	Het
AW551984	A	G	9: 39,597,940	S302P	probably damaging	Het
Dedd	C	A	1: 171,340,313	P185Q	probably benign	Het
Fam186a	A	T	15: 99,947,514	V283E	unknown	Het
Fat2	C	A	11: 55,303,653	V1187F	probably benign	Het
Fbxw11	T	C	11: 32,711,999		probably null	Het
Fcgbp	C	T	7: 28,102,976	T1443I	probably damaging	Het
Foxj2	A	G	6: 122,837,842	D279G	probably benign	Het
Gbp5	A	G	3: 142,501,361	D97G	probably damaging	Het
Gm49368	A	T	7: 128,107,982	T661S	possibly damaging	Het
Gria4	T	G	9: 4,513,330	T260P	probably damaging	Het
Gtf2ird2	T	A	5: 134,201,426	D195E	possibly damaging	Het
Ikzf5	A	T	7: 131,392,059	C280S	probably benign	Het
Ints9	G	T	14: 65,026,465	E395D	probably null	Het
Isoc2b	T	C	7: 4,851,085	D96G	probably benign	Het
Jmjd1c	T	G	10: 67,225,313	S967R	probably benign	Het
Kcnj3	A	T	2: 55,437,326	K42N	probably benign	Het
Kiz	T	C	2: 146,891,086	V394A	possibly damaging	Het
Knl1	A	T	2: 119,087,546	H1795L	probably damaging	Het
Lmntd2	A	G	7: 141,210,689		probably null	Het
Lrp1b	T	C	2: 41,344,576	D1121G		Het
Map3k2	T	C	18: 32,199,962	V63A	possibly damaging	Het
Mcc	G	T	18: 44,476,236	A499D	probably damaging	Het
Mcpt9	T	A	14: 56,026,943	I232F	probably damaging	Het
Meltf	A	G	16: 31,881,938	K92R	probably benign	Het
Mrgpra3	T	A	7: 47,589,947	Y77F	probably damaging	Het
Ndufv2	A	G	17: 66,087,537	V111A	possibly damaging	Het
Nkd2	T	C	13: 73,825,742	E99G	probably damaging	Het
Nlk	C	A	11: 78,583,399	G358V	probably damaging	Het
Nnmt	A	T	9: 48,592,232	C165S	probably damaging	Het
Nxpe4	T	A	9: 48,393,340	C242*	probably null	Het
Oas1b	A	T	5: 120,817,640	N162I	probably damaging	Het
Olfr1191-ps1	A	G	2: 88,643,210	I148V	probably benign	Het
Otog	A	G	7: 46,267,276	N879S	probably damaging	Het
Park2	A	G	17: 11,434,614	D199G	probably benign	Het
Pcsk7	T	A	9: 45,927,625	Y612N	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pgbd5	T	C	8: 124,434,011	D39G	probably benign	Het
Pkhd1l1	C	T	15: 44,505,185	Q800*	probably null	Het
Pkn3	T	C	2: 30,087,110	S621P	probably benign	Het
Polr3c	T	C	3: 96,715,185	I385V	probably benign	Het
Ppp1r21	G	T	17: 88,555,603	G257W	probably benign	Het
Pxylp1	C	T	9: 96,856,367		probably null	Het
Rasgrp1	T	C	2: 117,286,108	T613A	probably benign	Het
Robo3	C	T	9: 37,425,378	V387I	probably benign	Het
Rxfp2	T	A	5: 150,049,581	Y174N	possibly damaging	Het
Sec24a	T	C	11: 51,713,552	M746V	probably damaging	Het
Sema4f	T	A	6: 82,914,374	E571D	possibly damaging	Het
Sept3	T	C	15: 82,286,456	V217A	probably benign	Het
Serpinb1b	A	C	13: 33,093,565	K260N	probably benign	Het
Sin3b	A	G	8: 72,749,872	T645A	possibly damaging	Het
Sobp	C	T	10: 43,021,834	R585Q	probably damaging	Het
Specc1l	T	A	10: 75,246,447	L559Q	possibly damaging	Het
Srxn1	C	T	2: 152,105,653		probably benign	Het
Sspo	G	A	6: 48,455,860	R890Q	probably benign	Het
Stard9	A	G	2: 120,688,110	D505G	probably damaging	Het
Tjp1	A	T	7: 65,322,339	I653K	probably damaging	Het
Tnks	C	T	8: 34,831,712	E1296K	probably damaging	Het
Ttbk2	A	T	2: 120,748,640	I667N	probably benign	Het
Usp24	T	C	4: 106,342,353	S165P	possibly damaging	Het
Usp46	T	A	5: 74,028,937	K109*	probably null	Het
Vmn1r191	A	G	13: 22,178,772	C271R	probably benign	Het
Wisp3	T	A	10: 39,158,300	Y102F	probably damaging	Het
Zfp592	T	C	7: 81,023,452	S55P	probably damaging	Het
Zmynd15	T	C	11: 70,461,041	S158P	probably benign	Het
Zscan22	T	G	7: 12,906,737	C303G	probably damaging	Het

Other mutations in Loxhd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00330:Loxhd1	APN	18	77395450	missense	probably damaging	0.99
IGL00490:Loxhd1	APN	18	77431074	missense	possibly damaging	0.94
IGL00507:Loxhd1	APN	18	77332567	missense	probably benign	0.03
IGL00546:Loxhd1	APN	18	77405976	missense	probably damaging	0.97
IGL01369:Loxhd1	APN	18	77329201	missense	possibly damaging	0.85
IGL01767:Loxhd1	APN	18	77286424	missense	possibly damaging	0.71
IGL02245:Loxhd1	APN	18	77340101	missense	possibly damaging	0.71
IGL02388:Loxhd1	APN	18	77369137	missense	probably benign	0.18
IGL02410:Loxhd1	APN	18	77402952	missense	probably benign	0.02
IGL02593:Loxhd1	APN	18	77410539	missense	possibly damaging	0.91
IGL02632:Loxhd1	APN	18	77405932	missense	probably damaging	0.99
IGL02692:Loxhd1	APN	18	77356913	missense	probably damaging	0.99
IGL02796:Loxhd1	APN	18	77369115	splice site	probably benign
IGL03032:Loxhd1	APN	18	77286473	missense	possibly damaging	0.93
IGL03074:Loxhd1	APN	18	77441784	missense	possibly damaging	0.75
IGL03094:Loxhd1	APN	18	77431113	missense	possibly damaging	0.88
IGL03118:Loxhd1	APN	18	77380464	missense	probably damaging	1.00
IGL03232:Loxhd1	APN	18	77408750	missense	probably damaging	1.00
IGL03377:Loxhd1	APN	18	77441673	missense	possibly damaging	0.91
H8562:Loxhd1	UTSW	18	77341931	missense	possibly damaging	0.93
PIT4494001:Loxhd1	UTSW	18	77441768	missense	probably damaging	0.99
R0003:Loxhd1	UTSW	18	77339500	missense	probably damaging	0.98
R0003:Loxhd1	UTSW	18	77339500	missense	probably damaging	0.98
R0048:Loxhd1	UTSW	18	77408778	missense	probably damaging	0.99
R0049:Loxhd1	UTSW	18	77380560	splice site	probably benign
R0049:Loxhd1	UTSW	18	77380560	splice site	probably benign
R0206:Loxhd1	UTSW	18	77404866	missense	possibly damaging	0.90
R0206:Loxhd1	UTSW	18	77404866	missense	possibly damaging	0.90
R0208:Loxhd1	UTSW	18	77404866	missense	possibly damaging	0.90
R0323:Loxhd1	UTSW	18	77369137	missense	probably benign	0.18
R0332:Loxhd1	UTSW	18	77383830	synonymous	probably null
R0367:Loxhd1	UTSW	18	77425757	splice site	probably benign
R0709:Loxhd1	UTSW	18	77404969	missense	probably benign	0.23
R0783:Loxhd1	UTSW	18	77429984	missense	possibly damaging	0.58
R1132:Loxhd1	UTSW	18	77429943	missense	possibly damaging	0.71
R1232:Loxhd1	UTSW	18	77406003	critical splice donor site	probably null
R1331:Loxhd1	UTSW	18	77402936	missense	possibly damaging	0.86
R1465:Loxhd1	UTSW	18	77380573	intron	probably null
R1465:Loxhd1	UTSW	18	77380573	intron	probably null
R1501:Loxhd1	UTSW	18	77356832	missense	probably damaging	1.00
R1640:Loxhd1	UTSW	18	77402563	missense	probably damaging	1.00
R1656:Loxhd1	UTSW	18	77321668	missense	possibly damaging	0.71
R1671:Loxhd1	UTSW	18	77404802	missense	probably damaging	1.00
R1725:Loxhd1	UTSW	18	77293241	missense	probably benign	0.32
R1735:Loxhd1	UTSW	18	77404889	missense	probably damaging	0.98
R1796:Loxhd1	UTSW	18	77405907	missense	probably damaging	0.96
R1796:Loxhd1	UTSW	18	77425639	missense	possibly damaging	0.88
R1800:Loxhd1	UTSW	18	77402502	missense	probably damaging	1.00
R1848:Loxhd1	UTSW	18	77281971	missense	possibly damaging	0.53
R1912:Loxhd1	UTSW	18	77340137	missense	probably benign	0.32
R1945:Loxhd1	UTSW	18	77404808	missense	probably damaging	1.00
R1978:Loxhd1	UTSW	18	77321642	missense	possibly damaging	0.86
R1997:Loxhd1	UTSW	18	77295769	missense	probably damaging	0.98
R2086:Loxhd1	UTSW	18	77384946	missense	probably damaging	1.00
R2153:Loxhd1	UTSW	18	77356166	missense	possibly damaging	0.72
R3124:Loxhd1	UTSW	18	77431078	missense	probably damaging	0.97
R3896:Loxhd1	UTSW	18	77382023	missense	possibly damaging	0.65
R3907:Loxhd1	UTSW	18	77408768	missense	possibly damaging	0.60
R3980:Loxhd1	UTSW	18	77414159	missense	probably damaging	1.00
R4165:Loxhd1	UTSW	18	77372329	missense	probably damaging	0.99
R4166:Loxhd1	UTSW	18	77372329	missense	probably damaging	0.99
R4176:Loxhd1	UTSW	18	77331059	missense	possibly damaging	0.53
R4345:Loxhd1	UTSW	18	77399001	missense	possibly damaging	0.89
R4354:Loxhd1	UTSW	18	77395427	missense	probably damaging	1.00
R4385:Loxhd1	UTSW	18	77372911	missense	probably damaging	0.99
R4402:Loxhd1	UTSW	18	77441760	missense	possibly damaging	0.94
R4404:Loxhd1	UTSW	18	77431132	missense	probably damaging	1.00
R4456:Loxhd1	UTSW	18	77399089	missense	probably damaging	1.00
R4525:Loxhd1	UTSW	18	77356912	missense	probably damaging	0.98
R4605:Loxhd1	UTSW	18	77405946	missense	probably benign	0.00
R4661:Loxhd1	UTSW	18	77402885	missense	possibly damaging	0.79
R4698:Loxhd1	UTSW	18	77372291	missense	possibly damaging	0.82
R4725:Loxhd1	UTSW	18	77395457	missense	probably damaging	1.00
R4820:Loxhd1	UTSW	18	77384967	missense	probably damaging	1.00
R5163:Loxhd1	UTSW	18	77361736	missense	possibly damaging	0.92
R5288:Loxhd1	UTSW	18	77363612	missense	probably damaging	1.00
R5328:Loxhd1	UTSW	18	77410572	missense	probably damaging	1.00
R5329:Loxhd1	UTSW	18	77332682	missense	probably damaging	0.98
R5347:Loxhd1	UTSW	18	77366541	missense	probably damaging	1.00
R5589:Loxhd1	UTSW	18	77342055	missense	possibly damaging	0.86
R5616:Loxhd1	UTSW	18	77404951	missense	probably damaging	1.00
R5703:Loxhd1	UTSW	18	77356877	missense	probably damaging	1.00
R5837:Loxhd1	UTSW	18	77286409	missense	possibly damaging	0.71
R5888:Loxhd1	UTSW	18	77402515	missense	probably damaging	0.99
R6021:Loxhd1	UTSW	18	77412250	missense	probably damaging	1.00
R6032:Loxhd1	UTSW	18	77381558	missense	probably damaging	1.00
R6032:Loxhd1	UTSW	18	77381558	missense	probably damaging	1.00
R6153:Loxhd1	UTSW	18	77295758	missense	possibly damaging	0.71
R6174:Loxhd1	UTSW	18	77412178	missense	probably damaging	1.00
R6265:Loxhd1	UTSW	18	77361730	missense	probably damaging	0.99
R6377:Loxhd1	UTSW	18	77380432	missense	probably damaging	1.00
R6530:Loxhd1	UTSW	18	77412151	missense	probably benign	0.30
R6555:Loxhd1	UTSW	18	77293269	missense	possibly damaging	0.51
R6782:Loxhd1	UTSW	18	77431177	missense	probably damaging	0.99
R6834:Loxhd1	UTSW	18	77441526	missense	probably damaging	1.00
R7000:Loxhd1	UTSW	18	77372433	critical splice donor site	probably null
R7112:Loxhd1	UTSW	18	77388514	missense	probably damaging	1.00
R7203:Loxhd1	UTSW	18	77414196	missense	probably damaging	0.97
R7206:Loxhd1	UTSW	18	77441817	missense	probably damaging	0.97
R7260:Loxhd1	UTSW	18	77332642	missense	possibly damaging	0.93
R7432:Loxhd1	UTSW	18	77295851	missense	possibly damaging	0.51
R7555:Loxhd1	UTSW	18	77395365	missense	probably damaging	0.99
R7590:Loxhd1	UTSW	18	77321634	missense	possibly damaging	0.84
R7612:Loxhd1	UTSW	18	77429975	missense	possibly damaging	0.95
R7626:Loxhd1	UTSW	18	77431186	missense	possibly damaging	0.75
R7768:Loxhd1	UTSW	18	77384941	missense	probably damaging	0.99
R7791:Loxhd1	UTSW	18	77383729	missense	probably damaging	1.00
R7829:Loxhd1	UTSW	18	77408787	missense	probably damaging	0.99
X0020:Loxhd1	UTSW	18	77339562	nonsense	probably null
X0024:Loxhd1	UTSW	18	77395403	missense	probably damaging	1.00
X0062:Loxhd1	UTSW	18	77441516	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCAGGGAATGGTGCTCAGG -3'
(R):5'- GACAGAGAAGAAACCAGTTTTGTC -3'

Sequencing Primer
(F):5'- AATGGTGCTCAGGTATCTCAGAGTAC -3'
(R):5'- GAAACCAGTTTTGTCACTGTGAG -3'

Posted On

2019-10-07