Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

IGL02203

Quality Score

Status

Chromosome

Chromosomal Location

70768125-70775764 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70771958 bp (GRCm39)

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]

AlphaFold

Q8K406

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: 121,973,457 (GRCm39)	D1095A	probably benign	Het
Acmsd	T	C	1: 127,666,342 (GRCm39)		probably benign	Het
Ap5m1	G	A	14: 49,317,715 (GRCm39)	G324D	probably damaging	Het
Api5	T	G	2: 94,255,419 (GRCm39)	N252T	probably benign	Het
Arhgap45	T	A	10: 79,863,387 (GRCm39)	C743*	probably null	Het
Clpb	A	G	7: 101,428,544 (GRCm39)	T435A	probably damaging	Het
Csmd3	C	T	15: 47,713,073 (GRCm39)		probably null	Het
Cyp3a11	T	G	5: 145,805,976 (GRCm39)	R130S	probably damaging	Het
Dennd4c	A	G	4: 86,721,173 (GRCm39)	T612A	probably benign	Het
Dipk1a	A	G	5: 108,059,647 (GRCm39)	L57S	probably benign	Het
Eng	A	G	2: 32,561,498 (GRCm39)	I170V	probably benign	Het
Gfra2	T	A	14: 71,204,524 (GRCm39)	M74K	possibly damaging	Het
Gpr137c	A	G	14: 45,514,944 (GRCm39)	T268A	possibly damaging	Het
Gramd2b	T	C	18: 56,612,026 (GRCm39)		probably null	Het
Il13ra2	A	G	X: 146,166,669 (GRCm39)	L367P	possibly damaging	Het
Insr	T	C	8: 3,205,817 (GRCm39)	H1324R	probably benign	Het
Mst1r	A	G	9: 107,790,348 (GRCm39)	T654A	possibly damaging	Het
Mst1r	A	G	9: 107,785,068 (GRCm39)	Y242C	probably damaging	Het
Myo16	A	T	8: 10,620,132 (GRCm39)	Q1561L	possibly damaging	Het
Obscn	A	C	11: 58,973,134 (GRCm39)	M2222R	probably damaging	Het
Or10ak13	A	T	4: 118,639,626 (GRCm39)	V52D	possibly damaging	Het
Or13p10	A	T	4: 118,523,379 (GRCm39)	I222F	probably benign	Het
Or2ag1	A	G	7: 106,313,837 (GRCm39)	I17T	probably benign	Het
Or5ap2	T	G	2: 85,680,432 (GRCm39)	F212C	probably damaging	Het
Or8b50	A	G	9: 38,518,719 (GRCm39)		probably benign	Het
Plch1	G	A	3: 63,606,160 (GRCm39)	P1239L	possibly damaging	Het
Ptprm	A	T	17: 67,260,118 (GRCm39)	I499K	probably damaging	Het
Rabep2	G	T	7: 126,039,566 (GRCm39)	R331L	possibly damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Sema7a	A	G	9: 57,864,889 (GRCm39)	T397A	probably benign	Het
Sftpc	A	C	14: 70,759,309 (GRCm39)	M124R	probably damaging	Het
Slc25a38	A	G	9: 119,949,878 (GRCm39)	Y198C	probably damaging	Het
Sppl2a	A	T	2: 126,746,861 (GRCm39)	M489K	possibly damaging	Het
Swt1	T	A	1: 151,246,377 (GRCm39)	K849N	probably benign	Het
Ttc3	T	A	16: 94,219,457 (GRCm39)		probably benign	Het
Vmn2r63	A	G	7: 42,553,432 (GRCm39)	V608A	probably benign	Het
Vwf	A	G	6: 125,619,369 (GRCm39)	Y1349C	probably damaging	Het
Ybx3	A	G	6: 131,345,371 (GRCm39)	V265A	probably benign	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het

Other mutations in Lgi3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01639:Lgi3	APN	14	70,770,825 (GRCm39)	missense	probably benign	0.05
P0007:Lgi3	UTSW	14	70,774,152 (GRCm39)	missense	probably damaging	1.00
R0114:Lgi3	UTSW	14	70,768,469 (GRCm39)	start gained	probably benign
R0225:Lgi3	UTSW	14	70,770,261 (GRCm39)	missense	probably benign
R0242:Lgi3	UTSW	14	70,772,255 (GRCm39)	nonsense	probably null
R0242:Lgi3	UTSW	14	70,772,255 (GRCm39)	nonsense	probably null
R0244:Lgi3	UTSW	14	70,772,138 (GRCm39)	missense	probably benign	0.30
R0396:Lgi3	UTSW	14	70,772,280 (GRCm39)	missense	probably damaging	1.00
R0479:Lgi3	UTSW	14	70,771,992 (GRCm39)	unclassified	probably benign
R1652:Lgi3	UTSW	14	70,768,656 (GRCm39)	missense	probably damaging	0.99
R1840:Lgi3	UTSW	14	70,772,216 (GRCm39)	splice site	probably null
R1930:Lgi3	UTSW	14	70,773,708 (GRCm39)	missense	probably damaging	0.98
R1931:Lgi3	UTSW	14	70,773,708 (GRCm39)	missense	probably damaging	0.98
R2474:Lgi3	UTSW	14	70,770,689 (GRCm39)	critical splice donor site	probably null
R4672:Lgi3	UTSW	14	70,771,897 (GRCm39)	missense	possibly damaging	0.62
R5979:Lgi3	UTSW	14	70,773,900 (GRCm39)	missense	probably damaging	1.00
R6385:Lgi3	UTSW	14	70,768,610 (GRCm39)	missense	possibly damaging	0.66
R7146:Lgi3	UTSW	14	70,770,832 (GRCm39)	missense	probably damaging	1.00
R7314:Lgi3	UTSW	14	70,769,552 (GRCm39)	missense	probably damaging	1.00
R7712:Lgi3	UTSW	14	70,768,551 (GRCm39)	missense	unknown
R8124:Lgi3	UTSW	14	70,772,178 (GRCm39)	missense	probably damaging	1.00
R8417:Lgi3	UTSW	14	70,772,246 (GRCm39)	missense	probably benign	0.00
R8826:Lgi3	UTSW	14	70,768,712 (GRCm39)	critical splice donor site	probably null
R8881:Lgi3	UTSW	14	70,770,282 (GRCm39)	missense	probably damaging	1.00
R9186:Lgi3	UTSW	14	70,772,193 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16