Mutagenetix > Incidental Mutation

Incidental Mutation 'R7116:Lingo1'

551782

Institutional Source

Beutler Lab

Gene Symbol

Lingo1

Ensembl Gene

ENSMUSG00000049556

Gene Name

leucine rich repeat and Ig domain containing 1

Synonyms

LINGO-1, LERN1, Lrrn6a, UNQ201, 4930471K13Rik

MMRRC Submission

Accession Numbers

Genbank: NM_181074; MGI: 1915522

Essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R7116 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56618475-56796468 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56620627 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 232 (D232G)

Ref Sequence

ENSEMBL: ENSMUSP00000109894 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053568] [ENSMUST00000114247] [ENSMUST00000114256] [ENSMUST00000210032]

AlphaFold

Q9D1T0

Predicted Effect

probably benign
Transcript: ENSMUST00000053568
AA Change: D226G

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000059050
Gene: ENSMUSG00000049556
AA Change: D226G

Domain	Start	End	E-Value	Type
low complexity region	21	32	N/A	INTRINSIC
LRRNT	35	69	1.6e-3	SMART
LRR	88	111	6.22e0	SMART
LRR_TYP	112	135	5.81e-2	SMART
LRR	136	159	6.57e-1	SMART
LRR	160	183	3.02e0	SMART
LRR	184	207	1.51e0	SMART
LRR	208	231	1.81e2	SMART
LRR	280	303	8.26e1	SMART
LRR	304	327	9.24e1	SMART
LRR	328	351	1.43e-1	SMART
LRRCT	363	416	4.15e-2	SMART
IGc2	431	498	1.58e-10	SMART
transmembrane domain	554	576	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114247
AA Change: D226G

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000109885
Gene: ENSMUSG00000049556
AA Change: D226G

Domain	Start	End	E-Value	Type
low complexity region	21	32	N/A	INTRINSIC
LRRNT	35	69	1.6e-3	SMART
LRR	88	111	6.22e0	SMART
LRR_TYP	112	135	5.81e-2	SMART
LRR	136	159	6.57e-1	SMART
LRR	160	183	3.02e0	SMART
LRR	184	207	1.51e0	SMART
LRR	208	231	1.81e2	SMART
LRR	280	303	8.26e1	SMART
LRR	304	327	9.24e1	SMART
LRR	328	351	1.43e-1	SMART
LRRCT	363	416	4.15e-2	SMART
IGc2	431	498	1.58e-10	SMART
transmembrane domain	554	576	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114256
AA Change: D232G

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000109894
Gene: ENSMUSG00000049556
AA Change: D232G

Domain	Start	End	E-Value	Type
low complexity region	27	38	N/A	INTRINSIC
LRRNT	41	75	1.6e-3	SMART
LRR	94	117	6.22e0	SMART
LRR_TYP	118	141	5.81e-2	SMART
LRR	142	165	6.57e-1	SMART
LRR	166	189	3.02e0	SMART
LRR	190	213	1.51e0	SMART
LRR	214	237	1.81e2	SMART
LRR	286	309	8.26e1	SMART
LRR	310	333	9.24e1	SMART
LRR	334	357	1.43e-1	SMART
LRRCT	369	422	4.15e-2	SMART
IGc2	437	504	1.58e-10	SMART
transmembrane domain	560	582	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000210032
AA Change: D226G

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit early-onset CNS myelination. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	G	12: 80,204,977	S109P	probably damaging	Het
Afg3l1	T	G	8: 123,489,862	L280R	probably damaging	Het
Akap13	T	A	7: 75,720,195	S129T	probably benign	Het
Ankrd11	A	G	8: 122,896,130	S328P	probably damaging	Het
Aox3	A	T	1: 58,153,530	E554D	probably benign	Het
Bcl11a	T	C	11: 24,163,839	V394A	probably damaging	Het
Cass4	A	G	2: 172,427,969	Y657C	unknown	Het
Ccdc88a	C	T	11: 29,504,051	A1738V	probably benign	Het
Cfap74	T	C	4: 155,455,061	F948L	unknown	Het
Chgb	A	T	2: 132,781,317		probably benign	Het
Coro1c	C	T	5: 113,852,206	W138*	probably null	Het
Dgkb	A	G	12: 37,981,990	Q17R	probably benign	Het
Esco2	A	G	14: 65,826,557	Y393H	probably damaging	Het
Eya3	T	A	4: 132,694,799	D228E	probably benign	Het
Fat2	T	C	11: 55,282,336	D2517G	probably damaging	Het
Fry	T	A	5: 150,395,869		probably null	Het
Gal3st2b	A	T	1: 93,940,776	Q243L	possibly damaging	Het
Gimap9	C	T	6: 48,678,055	A192V	probably benign	Het
Glg1	T	A	8: 111,178,957	Q564L	probably benign	Het
H2-Aa	A	T	17: 34,283,627	Y188*	probably null	Het
Hira	T	C	16: 18,912,114	Y188H	probably damaging	Het
Ighv8-8	C	T	12: 115,294,194	D76N	probably benign	Het
Irf6	T	C	1: 193,167,597	F276L	probably damaging	Het
Itpr1	T	C	6: 108,481,268	C2000R	probably damaging	Het
Jakmip3	T	C	7: 139,020,250	V293A	possibly damaging	Het
Kcnh7	A	G	2: 62,877,270	V132A	probably benign	Het
Kcnj1	A	G	9: 32,396,981	T234A	possibly damaging	Het
Kpna3	T	A	14: 61,368,186	N470I	probably benign	Het
Lamb2	T	C	9: 108,487,323	F1121L	probably damaging	Het
Lpxn	T	A	19: 12,811,258	N70K	probably benign	Het
Ltbp4	T	A	7: 27,305,427	H1657L	probably damaging	Het
Luzp2	C	A	7: 55,265,330	F334L	possibly damaging	Het
Mgat5b	A	T	11: 116,944,959	S142C	possibly damaging	Het
Mroh7	G	A	4: 106,711,320	T396I	probably benign	Het
Muc5b	T	C	7: 141,863,750	S3478P	probably benign	Het
Nfatc2	A	T	2: 168,507,349	M626K	probably benign	Het
Nlrp14	A	G	7: 107,183,048	D484G	possibly damaging	Het
Npc1	T	C	18: 12,211,544	Y423C	probably damaging	Het
Nrsn1	A	G	13: 25,253,405	I180T	probably damaging	Het
Olfr570	T	A	7: 102,900,635	N89K	probably benign	Het
Olfr741	A	T	14: 50,485,568	I37F	probably benign	Het
Osbpl6	A	T	2: 76,595,881	I935F	probably benign	Het
Otog	T	C	7: 46,298,265	F96L	probably damaging	Het
Pde1b	T	C	15: 103,528,318	L534P	possibly damaging	Het
Pdzd8	C	T	19: 59,299,693	E1092K	probably damaging	Het
Pfkl	T	C	10: 78,001,415	H108R	probably benign	Het
Pkhd1l1	G	A	15: 44,557,976	V3047I	probably benign	Het
Plag1	A	T	4: 3,904,812	C126*	probably null	Het
Pphln1	T	A	15: 93,455,525	S229T	probably benign	Het
Pramel5	C	T	4: 144,273,881	D42N	possibly damaging	Het
Psd3	A	G	8: 67,713,738	V915A	probably benign	Het
Ptdss1	T	A	13: 66,945,327	I77N	probably benign	Het
Rsbn1	T	A	3: 103,914,576	C3*	probably null	Het
Shank1	C	T	7: 44,327,161	A561V	unknown	Het
Stip1	C	T	19: 7,021,810	G467S	possibly damaging	Het
Sv2c	A	T	13: 95,976,644	V599E	probably damaging	Het
Vmn2r37	T	C	7: 9,217,899	T322A	probably benign	Het
Vmn2r60	T	A	7: 42,137,063	M430K	probably benign	Het
Wipf3	T	A	6: 54,481,919		probably null	Het

Other mutations in Lingo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01648:Lingo1	APN	9	56619827	missense	probably damaging	1.00
IGL02335:Lingo1	APN	9	56620081	missense	probably damaging	1.00
IGL03093:Lingo1	APN	9	56619464	missense	possibly damaging	0.90
3-1:Lingo1	UTSW	9	56620420	missense	probably benign	0.02
R1840:Lingo1	UTSW	9	56620558	missense	probably benign	0.38
R1932:Lingo1	UTSW	9	56619650	missense	possibly damaging	0.89
R2475:Lingo1	UTSW	9	56619626	missense	probably benign	0.03
R3439:Lingo1	UTSW	9	56620733	missense	probably benign	0.23
R3870:Lingo1	UTSW	9	56619725	missense	probably benign	0.00
R4241:Lingo1	UTSW	9	56620102	missense	probably damaging	1.00
R4701:Lingo1	UTSW	9	56620258	missense	probably damaging	1.00
R4757:Lingo1	UTSW	9	56619925	missense	probably benign	0.14
R5451:Lingo1	UTSW	9	56620427	missense	probably damaging	1.00
R6190:Lingo1	UTSW	9	56619650	missense	possibly damaging	0.89
R6254:Lingo1	UTSW	9	56620087	missense	possibly damaging	0.55
R6836:Lingo1	UTSW	9	56619772	missense	probably damaging	0.99
R6849:Lingo1	UTSW	9	56619616	missense	probably damaging	1.00
R6935:Lingo1	UTSW	9	56619865	missense	probably damaging	1.00
R7051:Lingo1	UTSW	9	56620183	missense	probably benign	0.35
R7196:Lingo1	UTSW	9	56620619	missense	probably damaging	1.00
R7470:Lingo1	UTSW	9	56620624	missense	probably damaging	1.00
R7471:Lingo1	UTSW	9	56620883	nonsense	probably null
R7804:Lingo1	UTSW	9	56619514	missense	probably benign	0.00
R8179:Lingo1	UTSW	9	56619850	missense	probably damaging	1.00
R8534:Lingo1	UTSW	9	56621069	missense	probably benign	0.00
R8684:Lingo1	UTSW	9	56620822	missense	probably damaging	0.98
R9430:Lingo1	UTSW	9	56620228	missense	probably benign	0.09
R9794:Lingo1	UTSW	9	56621308	missense	probably benign
X0023:Lingo1	UTSW	9	56620028	nonsense	probably null
Z1177:Lingo1	UTSW	9	56620942	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- AGATAGACCAGGTGACGCAC -3'
(R):5'- CAAGATCGTCATCCTGCTAGAC -3'

Sequencing Primer
(F):5'- TGACGCACTGCCAGATAGG -3'
(R):5'- AGATCGTCATCCTGCTAGACTACATG -3'

Posted On

2019-05-15