Mutagenetix > Incidental Mutation

Incidental Mutation 'R7314:Lgi3'

567843

Institutional Source

Beutler Lab

Gene Symbol

Lgi3

Ensembl Gene

ENSMUSG00000033595

Gene Name

leucine-rich repeat LGI family, member 3

Synonyms

MMRRC Submission

045412-MU

Accession Numbers

Essential gene?

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

Stock #

R7314 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70768125-70775764 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70769552 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 84 (F84S)

Ref Sequence

ENSEMBL: ENSMUSP00000046705 (fasta)

Gene Model

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

AlphaFold

Q8K406

Predicted Effect

probably damaging
Transcript: ENSMUST00000047331
AA Change: F84S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046705
Gene: ENSMUSG00000033595
AA Change: F84S

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

probably damaging
Transcript: ENSMUST00000226548
AA Change: F84S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.9466

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (44/44)

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L13Rik	G	A	7: 29,989,320 (GRCm39)	V177I	unknown	Het
4930596D02Rik	A	G	14: 35,533,606 (GRCm39)	V54A	probably benign	Het
Abcc10	C	A	17: 46,626,330 (GRCm39)	A704S	probably damaging	Het
Adss2	A	G	1: 177,595,317 (GRCm39)	W408R	probably damaging	Het
Aplp1	T	C	7: 30,135,414 (GRCm39)	E548G	probably damaging	Het
C4b	C	T	17: 34,959,330 (GRCm39)	V415I	probably benign	Het
Celsr3	T	C	9: 108,706,343 (GRCm39)	V942A	probably damaging	Het
Cstf1	A	G	2: 172,214,954 (GRCm39)	D25G	probably damaging	Het
Dnah14	A	T	1: 181,612,819 (GRCm39)		probably null	Het
Dnah9	G	A	11: 65,880,677 (GRCm39)	T2640I	probably benign	Het
Dnase2b	T	C	3: 146,288,151 (GRCm39)	I315V	probably damaging	Het
Endod1	T	C	9: 14,268,295 (GRCm39)	S397G	probably benign	Het
Eps8	A	G	6: 137,504,090 (GRCm39)	V171A	possibly damaging	Het
Ghdc	T	C	11: 100,659,928 (GRCm39)	E273G	probably damaging	Het
Hmgn2-ps	C	T	8: 73,058,839 (GRCm39)	G63R	probably damaging	Het
Hspbap1	T	A	16: 35,645,541 (GRCm39)	S409T	probably benign	Het
Ireb2	T	C	9: 54,799,794 (GRCm39)	Y412H	probably damaging	Het
Jph4	TCCATTCTCGTATACCCCA	TCCA	14: 55,347,196 (GRCm39)		probably benign	Het
Klhl6	A	G	16: 19,775,755 (GRCm39)	Y268H	probably damaging	Het
Krt16	T	C	11: 100,138,695 (GRCm39)	D197G	probably damaging	Het
Lca5	T	C	9: 83,277,563 (GRCm39)	K594E	possibly damaging	Het
Lingo3	T	C	10: 80,670,707 (GRCm39)	I408V	possibly damaging	Het
Map3k7	G	T	4: 31,985,769 (GRCm39)	E231*	probably null	Het
Nrip1	A	G	16: 76,088,078 (GRCm39)	S1160P	probably benign	Het
Oas1g	A	T	5: 121,016,526 (GRCm39)	L301Q	probably damaging	Het
Obox3	T	A	7: 15,361,079 (GRCm39)	Q62L	possibly damaging	Het
Or5d37	A	G	2: 87,923,458 (GRCm39)	L274P	probably benign	Het
Or6b13	A	T	7: 139,782,326 (GRCm39)	V119D	probably damaging	Het
Parp8	G	T	13: 117,004,996 (GRCm39)	F727L	probably benign	Het
Pcdha1	T	C	18: 37,064,553 (GRCm39)	Y406H	probably damaging	Het
Pcdhgb8	A	G	18: 37,896,052 (GRCm39)	D374G	probably damaging	Het
Pdzd8	A	T	19: 59,289,783 (GRCm39)	L539*	probably null	Het
Phkb	A	G	8: 86,669,021 (GRCm39)		probably null	Het
Ppp1r13b	T	C	12: 111,812,790 (GRCm39)	E143G	probably damaging	Het
Rpap2	T	C	5: 107,768,245 (GRCm39)	V361A	probably damaging	Het
Setd4	T	C	16: 93,384,711 (GRCm39)	T326A	probably benign	Het
Smad9	A	G	3: 54,696,744 (GRCm39)	N270D	probably benign	Het
Sntg2	A	G	12: 30,317,107 (GRCm39)	S172P	probably benign	Het
Tecpr1	A	G	5: 144,154,150 (GRCm39)	L101P	probably damaging	Het
Tmco3	G	A	8: 13,369,605 (GRCm39)		probably null	Het
Tmprss11f	T	C	5: 86,671,912 (GRCm39)	T427A	possibly damaging	Het
Trhr2	A	G	8: 123,085,489 (GRCm39)	V165A	possibly damaging	Het
Ubr3	T	A	2: 69,821,944 (GRCm39)	L1402Q	probably damaging	Het
Vps13c	T	A	9: 67,850,622 (GRCm39)		probably null	Het
Zfp369	T	C	13: 65,439,918 (GRCm39)	S201P	probably damaging	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
IGL02203:Lgi3	APN	14	70,771,958 (GRCm39)	missense	possibly damaging	0.68
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
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

Predicted Primers

PCR Primer
(F):5'- CTCTTGGCTGAGAGGGAAGG -3'
(R):5'- CGGACTCCTGACCTCATGTC -3'

Sequencing Primer
(F):5'- ACTGTCGCTTCTGGAGGC -3'
(R):5'- GACCTCATGTCACTCCACC -3'

Posted On

2019-06-26