Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02086:Lgi2'

285488

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: 0.114) question?

Stock #

IGL02086

Quality Score

Status

Chromosome

Chromosomal Location

52533517-52566462 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 52565957 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 50 (S50F)

Ref Sequence

ENSEMBL: ENSMUSP00000143707 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000039750
AA Change: S50F

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000040436
Gene: ENSMUSG00000039252
AA Change: S50F

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

probably damaging
Transcript: ENSMUST00000199942
AA Change: S50F

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000143707
Gene: ENSMUSG00000039252
AA Change: S50F

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930426L09Rik	T	C	2: 18,998,812		probably benign	Het
Abi3bp	A	G	16: 56,642,567		probably benign	Het
Asb4	T	C	6: 5,398,386	I117T	probably benign	Het
BC005561	A	G	5: 104,519,001	E463G	possibly damaging	Het
Birc6	T	G	17: 74,639,827	L2847R	probably damaging	Het
C2cd2	A	G	16: 97,890,008		probably benign	Het
Ccdc77	C	A	6: 120,339,158	C186F	possibly damaging	Het
Cd300ld2	T	A	11: 115,012,558		probably benign	Het
Cd55b	A	T	1: 130,418,182	D166E	probably benign	Het
Cfap100	A	G	6: 90,413,972	F8L	probably damaging	Het
Col2a1	C	T	15: 97,986,737		probably null	Het
Dbf4	A	G	5: 8,403,189	I270T	probably benign	Het
Dkk3	T	C	7: 112,149,029	S123G	probably benign	Het
Ep400	A	G	5: 110,676,943		probably benign	Het
Fam184a	A	G	10: 53,699,255	I30T	probably damaging	Het
Fam20a	T	C	11: 109,673,413	I505V	probably benign	Het
Fbxo18	T	C	2: 11,764,127	D285G	probably benign	Het
Fcho1	T	C	8: 71,716,800	E154G	probably damaging	Het
Klhdc1	A	G	12: 69,283,184	I362M	probably benign	Het
Knl1	A	T	2: 119,100,774	E1990D	probably benign	Het
Lancl2	A	G	6: 57,734,039	Y394C	probably damaging	Het
Map2k7	A	G	8: 4,238,950	E14G	probably damaging	Het
Mga	A	G	2: 119,924,036	I1009V	probably damaging	Het
Nat9	C	A	11: 115,183,408		probably null	Het
Nek2	G	A	1: 191,831,289	A422T	probably benign	Het
Nfkbiz	A	T	16: 55,815,671	L509Q	probably damaging	Het
Olfr661	A	T	7: 104,688,427	R137S	probably benign	Het
Pgap1	T	A	1: 54,547,988	Q143L	probably damaging	Het
Pkd1l3	C	T	8: 109,665,585	T1937I	probably damaging	Het
Pou1f1	A	G	16: 65,529,898	E128G	probably damaging	Het
Ppfia3	T	C	7: 45,340,572		probably benign	Het
Prkd1	T	C	12: 50,387,263	I566V	probably benign	Het
Psd2	A	G	18: 36,005,906	R528G	probably damaging	Het
Ptprg	G	T	14: 12,110,080	E263*	probably null	Het
Radil	T	C	5: 142,543,821	D40G	probably benign	Het
Ryr2	T	A	13: 11,735,556	Y1943F	probably damaging	Het
Slc30a4	C	T	2: 122,702,027		probably benign	Het
Slc31a1	A	T	4: 62,388,004	T120S	possibly damaging	Het
Snrpe	A	G	1: 133,609,749		probably benign	Het
Stx3	G	T	19: 11,818,682		probably benign	Het
Ufsp1	T	A	5: 137,294,916	C43S	probably damaging	Het
Vac14	T	A	8: 110,653,318	M416K	possibly damaging	Het
Vmn1r81	A	C	7: 12,259,865	V272G	possibly damaging	Het
Vmn2r107	T	A	17: 20,357,800	I457K	probably benign	Het
Vmn2r72	A	T	7: 85,738,166	V730E	probably benign	Het
Vmn2r9	T	C	5: 108,847,567	Y405C	probably damaging	Het
Zcchc17	T	C	4: 130,316,647	*242W	probably null	Het
Zfp503	T	C	14: 21,987,286	K83R	possibly damaging	Het

Other mutations in Lgi2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00861:Lgi2	APN	5	52538121	missense	probably benign
IGL01310:Lgi2	APN	5	52554465	missense	probably benign	0.44
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

Posted On

2015-04-16