Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00861:Lgi2'

11750

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lgi2

Ensembl Gene

ENSMUSG00000039252

Gene Name

leucine-rich repeat LGI family, member 2

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

IGL00861

Quality Score

Status

Chromosome

Chromosomal Location

52533517-52566462 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52538121 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 491 (K491E)

Ref Sequence

ENSEMBL: ENSMUSP00000143707 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039750] [ENSMUST00000199942]

Predicted Effect

probably benign
Transcript: ENSMUST00000039750
AA Change: K499E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000040436
Gene: ENSMUSG00000039252
AA Change: K499E

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Blast:LRRNT	32	62	9e-15	BLAST
LRR_TYP	81	104	7.26e-3	SMART
LRR_TYP	105	128	4.72e-2	SMART
LRRCT	140	189	4.49e-4	SMART
Pfam:EPTP	224	265	3.9e-12	PFAM
Pfam:EPTP	270	311	2e-13	PFAM
Pfam:EPTP	316	362	2.1e-16	PFAM
Pfam:EPTP	365	407	2.3e-9	PFAM
Pfam:EPTP	412	454	4.8e-12	PFAM
Pfam:EPTP	457	498	2.7e-14	PFAM
low complexity region	499	509	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197351

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198876

Predicted Effect

probably benign
Transcript: ENSMUST00000199942
AA Change: K491E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000143707
Gene: ENSMUSG00000039252
AA Change: K491E

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Blast:LRRNT	32	62	7e-15	BLAST
LRR_TYP	81	104	7.26e-3	SMART
LRR_TYP	105	128	4.72e-2	SMART
LRR_TYP	129	152	5.99e-4	SMART
LRRCT	164	213	4.49e-4	SMART
Pfam:EPTP	216	257	5.6e-12	PFAM
Pfam:EPTP	262	303	2.8e-13	PFAM
Pfam:EPTP	308	354	3e-16	PFAM
Pfam:EPTP	357	399	3.3e-9	PFAM
Pfam:EPTP	404	446	6.8e-12	PFAM
Pfam:EPTP	449	490	3.8e-14	PFAM
low complexity region	491	501	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adm2	G	A	15: 89,323,285		probably benign	Het
Ambra1	T	A	2: 91,770,926	D189E	possibly damaging	Het
Atg16l1	G	A	1: 87,774,838	G274S	probably damaging	Het
Cdh7	C	A	1: 110,060,988		probably benign	Het
Chat	T	C	14: 32,449,023	Y173C	probably damaging	Het
Crygd	C	T	1: 65,062,091	R115Q	probably benign	Het
Ctnnd1	T	C	2: 84,603,752	D874G	probably damaging	Het
Dbt	G	A	3: 116,546,114	G384S	probably benign	Het
Depdc5	T	C	5: 32,967,814		probably null	Het
Eef1b2	G	A	1: 63,178,506	G91R	probably damaging	Het
Fut10	G	T	8: 31,235,705	V163F	probably damaging	Het
Glmn	A	T	5: 107,570,139	M304K	possibly damaging	Het
Klra6	A	G	6: 130,023,700	V47A	possibly damaging	Het
Lrrc72	T	A	12: 36,221,508	Q138L	probably benign	Het
Nxph2	T	A	2: 23,399,962	F109I	probably damaging	Het
Oosp3	A	G	19: 11,711,640	D84G	probably benign	Het
Pdzd3	A	G	9: 44,249,636	L211P	possibly damaging	Het
Poc1b	C	T	10: 99,129,652	R106C	probably benign	Het
Ptk2	A	G	15: 73,262,547	S568P	probably damaging	Het
Slc4a5	A	G	6: 83,299,471	I1093V	probably benign	Het
Snx2	G	A	18: 53,210,797		probably null	Het
Washc5	G	T	15: 59,337,276	T1033K	probably damaging	Het

Other mutations in Lgi2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01310:Lgi2	APN	5	52554465	missense	probably benign	0.44
IGL02086:Lgi2	APN	5	52565957	missense	probably damaging	0.96
IGL03091:Lgi2	APN	5	52563965	critical splice donor site	probably null
IGL03367:Lgi2	APN	5	52562160	missense	probably damaging	1.00
IGL03388:Lgi2	APN	5	52538477	missense	probably damaging	1.00
R0388:Lgi2	UTSW	5	52554549	missense	probably damaging	0.99
R0602:Lgi2	UTSW	5	52554423	missense	probably damaging	0.98
R0633:Lgi2	UTSW	5	52554460	missense	probably damaging	0.97
R1616:Lgi2	UTSW	5	52546638	missense	probably benign	0.00
R1916:Lgi2	UTSW	5	52546632	missense	probably benign
R2072:Lgi2	UTSW	5	52538505	missense	probably damaging	1.00
R2512:Lgi2	UTSW	5	52537965	makesense	probably null
R4614:Lgi2	UTSW	5	52538433	missense	probably damaging	0.99
R4855:Lgi2	UTSW	5	52538507	missense	probably damaging	1.00
R5092:Lgi2	UTSW	5	52538087	missense	probably damaging	1.00
R5181:Lgi2	UTSW	5	52554450	missense	probably damaging	1.00
R5311:Lgi2	UTSW	5	52554485	missense	probably damaging	0.99
R6074:Lgi2	UTSW	5	52546642	missense	probably benign
R7089:Lgi2	UTSW	5	52538490	missense	probably damaging	0.99
R7376:Lgi2	UTSW	5	52538262	missense	probably damaging	0.99
R7396:Lgi2	UTSW	5	52538411	missense	probably damaging	1.00
R7733:Lgi2	UTSW	5	52538531	missense	probably benign	0.03
R8007:Lgi2	UTSW	5	52566033	missense	probably benign	0.01
R8073:Lgi2	UTSW	5	52546671	missense	probably benign

Posted On

2012-12-06