Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02203:Lgi3'

284400

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lgi3

Ensembl Gene

ENSMUSG00000033595

Gene Name

leucine-rich repeat LGI family, member 3

Synonyms

Accession Numbers

NCBI RefSeq: NM_145219.4; MGI: 2182619

Is this an essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

IGL02203

Quality Score

Status

Chromosome

Chromosomal Location

70530685-70538324 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70534518 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 215 (E215G)

Ref Sequence

ENSEMBL: ENSMUSP00000046705 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047331] [ENSMUST00000226548]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047331
AA Change: E215G

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000046705
Gene: ENSMUSG00000033595
AA Change: E215G

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
low complexity region	31	47	N/A	INTRINSIC
LRR	87	110	2.63e0	SMART
LRR	111	134	1.07e0	SMART
LRR_TYP	135	158	2.84e-5	SMART
LRRCT	170	219	2.76e-4	SMART
Pfam:EPTP	222	263	7.6e-13	PFAM
Pfam:EPTP	268	309	1.3e-12	PFAM
Pfam:EPTP	314	360	1.1e-14	PFAM
Pfam:EPTP	363	405	2.4e-9	PFAM
Pfam:EPTP	410	452	1.2e-11	PFAM
Pfam:EPTP	455	496	2.2e-12	PFAM
Pfam:EPTP	501	541	2.4e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226376

Predicted Effect

probably benign
Transcript: ENSMUST00000226548

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	C	3: 122,179,808	D1095A	probably benign	Het
Acmsd	T	C	1: 127,738,605		probably benign	Het
Ap5m1	G	A	14: 49,080,258	G324D	probably damaging	Het
Api5	T	G	2: 94,425,074	N252T	probably benign	Het
Arhgap45	T	A	10: 80,027,553	C743*	probably null	Het
Clpb	A	G	7: 101,779,337	T435A	probably damaging	Het
Csmd3	C	T	15: 47,849,677		probably null	Het
Cyp3a11	T	G	5: 145,869,166	R130S	probably damaging	Het
Dennd4c	A	G	4: 86,802,936	T612A	probably benign	Het
Eng	A	G	2: 32,671,486	I170V	probably benign	Het
Fam69a	A	G	5: 107,911,781	L57S	probably benign	Het
Gfra2	T	A	14: 70,967,084	M74K	possibly damaging	Het
Gpr137c	A	G	14: 45,277,487	T268A	possibly damaging	Het
Gramd3	T	C	18: 56,478,954		probably null	Het
Il13ra2	A	G	X: 147,383,673	L367P	possibly damaging	Het
Insr	T	C	8: 3,155,817	H1324R	probably benign	Het
Mst1r	A	G	9: 107,907,869	Y242C	probably damaging	Het
Mst1r	A	G	9: 107,913,149	T654A	possibly damaging	Het
Myo16	A	T	8: 10,570,132	Q1561L	possibly damaging	Het
Obscn	A	C	11: 59,082,308	M2222R	probably damaging	Het
Olfr1020	T	G	2: 85,850,088	F212C	probably damaging	Het
Olfr1337	A	T	4: 118,782,429	V52D	possibly damaging	Het
Olfr62	A	T	4: 118,666,182	I222F	probably benign	Het
Olfr705	A	G	7: 106,714,630	I17T	probably benign	Het
Olfr914	A	G	9: 38,607,423		probably benign	Het
Plch1	G	A	3: 63,698,739	P1239L	possibly damaging	Het
Ptprm	A	T	17: 66,953,123	I499K	probably damaging	Het
Rabep2	G	T	7: 126,440,394	R331L	possibly damaging	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Sema7a	A	G	9: 57,957,606	T397A	probably benign	Het
Sftpc	A	C	14: 70,521,869	M124R	probably damaging	Het
Slc25a38	A	G	9: 120,120,812	Y198C	probably damaging	Het
Sppl2a	A	T	2: 126,904,941	M489K	possibly damaging	Het
Swt1	T	A	1: 151,370,626	K849N	probably benign	Het
Ttc3	T	A	16: 94,418,598		probably benign	Het
Vmn2r63	A	G	7: 42,904,008	V608A	probably benign	Het
Vwf	A	G	6: 125,642,406	Y1349C	probably damaging	Het
Ybx3	A	G	6: 131,368,408	V265A	probably benign	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het

Other mutations in Lgi3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01639:Lgi3	APN	14	70533385	missense	probably benign	0.05
P0007:Lgi3	UTSW	14	70536712	missense	probably damaging	1.00
R0114:Lgi3	UTSW	14	70531029	start gained	probably benign
R0225:Lgi3	UTSW	14	70532821	missense	probably benign
R0242:Lgi3	UTSW	14	70534815	nonsense	probably null
R0242:Lgi3	UTSW	14	70534815	nonsense	probably null
R0244:Lgi3	UTSW	14	70534698	missense	probably benign	0.30
R0396:Lgi3	UTSW	14	70534840	missense	probably damaging	1.00
R0479:Lgi3	UTSW	14	70534552	unclassified	probably benign
R1652:Lgi3	UTSW	14	70531216	missense	probably damaging	0.99
R1840:Lgi3	UTSW	14	70534776	splice site	probably null
R1930:Lgi3	UTSW	14	70536268	missense	probably damaging	0.98
R1931:Lgi3	UTSW	14	70536268	missense	probably damaging	0.98
R2474:Lgi3	UTSW	14	70533249	critical splice donor site	probably null
R4672:Lgi3	UTSW	14	70534457	missense	possibly damaging	0.62
R5979:Lgi3	UTSW	14	70536460	missense	probably damaging	1.00
R6385:Lgi3	UTSW	14	70531170	missense	possibly damaging	0.66
R7146:Lgi3	UTSW	14	70533392	missense	probably damaging	1.00
R7314:Lgi3	UTSW	14	70532112	missense	probably damaging	1.00
R7712:Lgi3	UTSW	14	70531111	missense	unknown
R8124:Lgi3	UTSW	14	70534738	missense	probably damaging	1.00
R8417:Lgi3	UTSW	14	70534806	missense	probably benign	0.00

Posted On

2015-04-16