Mutagenetix > Incidental Mutation

Incidental Mutation 'R8179:Lingo1'

634556

Institutional Source

Beutler Lab

Gene Symbol

Lingo1

Ensembl Gene

ENSMUSG00000049556

Gene Name

leucine rich repeat and Ig domain containing 1

Synonyms

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

MMRRC Submission

067604-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.228) question?

Stock #

R8179 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56525759-56703752 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56527134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 491 (D491G)

Ref Sequence

ENSEMBL: ENSMUSP00000109894 (fasta)

Gene Model

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

AlphaFold

Q9D1T0

Predicted Effect

probably damaging
Transcript: ENSMUST00000053568
AA Change: D485G

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

SMART Domains

Protein: ENSMUSP00000059050
Gene: ENSMUSG00000049556
AA Change: D485G

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 damaging
Transcript: ENSMUST00000114247
AA Change: D485G

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

SMART Domains

Protein: ENSMUSP00000109885
Gene: ENSMUSG00000049556
AA Change: D485G

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 damaging
Transcript: ENSMUST00000114256
AA Change: D491G

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

SMART Domains

Protein: ENSMUSP00000109894
Gene: ENSMUSG00000049556
AA Change: D491G

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 damaging
Transcript: ENSMUST00000210032
AA Change: D485G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	G	11: 110,136,100 (GRCm39)	Y170H	probably damaging	Het
Ace3	G	T	11: 105,895,383 (GRCm39)	V602L	probably benign	Het
Ahr	T	C	12: 35,560,050 (GRCm39)	Q201R	probably benign	Het
Aldh18a1	A	C	19: 40,545,952 (GRCm39)	C612G	probably damaging	Het
Ankrd40	G	A	11: 94,225,541 (GRCm39)	A191T	probably benign	Het
Aox1	A	G	1: 58,137,117 (GRCm39)	D1169G	probably damaging	Het
Arfgap2	T	C	2: 91,105,668 (GRCm39)	F505L	probably damaging	Het
Arhgap40	T	C	2: 158,381,776 (GRCm39)	F423L	probably damaging	Het
Atf6b	T	C	17: 34,872,968 (GRCm39)	M628T	probably damaging	Het
Casp8ap2	T	A	4: 32,643,939 (GRCm39)	L1004*	probably null	Het
Cc2d2a	T	A	5: 43,857,295 (GRCm39)	L494Q	probably damaging	Het
Cd180	T	C	13: 102,842,141 (GRCm39)	S396P	probably benign	Het
Cdk19	T	C	10: 40,270,368 (GRCm39)	I59T	possibly damaging	Het
Cfap54	G	T	10: 92,833,178 (GRCm39)	F1149L	possibly damaging	Het
Chp1	C	T	2: 119,378,253 (GRCm39)		probably benign	Het
Clmp	T	C	9: 40,692,475 (GRCm39)	F248S	probably benign	Het
Ctc1	T	A	11: 68,915,050 (GRCm39)	I237K	probably benign	Het
Dcaf1	G	T	9: 106,735,115 (GRCm39)	V688L	probably damaging	Het
Ddx54	T	A	5: 120,765,167 (GRCm39)	M812K	probably benign	Het
Disc1	C	T	8: 125,814,316 (GRCm39)	P60L	probably benign	Het
Disp2	C	G	2: 118,623,030 (GRCm39)	P1254R	probably damaging	Het
Dnah11	T	A	12: 117,842,284 (GRCm39)	I4432F	possibly damaging	Het
Dnajc15	A	T	14: 78,090,393 (GRCm39)	I58N		Het
Elovl5	A	G	9: 77,884,181 (GRCm39)	N159S	probably damaging	Het
Fgfr3	T	C	5: 33,885,099 (GRCm39)	V71A	probably benign	Het
Frs2	A	T	10: 116,912,791 (GRCm39)	H167Q	probably damaging	Het
Gm4553	A	T	7: 141,718,594 (GRCm39)	V278E	unknown	Het
Grin2d	A	T	7: 45,507,452 (GRCm39)	Y416*	probably null	Het
Hmcn1	A	T	1: 150,598,265 (GRCm39)	V1679E	probably benign	Het
Igkv18-36	T	C	6: 69,969,479 (GRCm39)	Y105C	probably damaging	Het
Map3k1	A	C	13: 111,885,581 (GRCm39)	I1445M	probably damaging	Het
Med30	A	T	15: 52,575,964 (GRCm39)	Q20L	probably damaging	Het
Mgat5b	A	G	11: 116,822,554 (GRCm39)	E96G	probably benign	Het
Mmp16	T	A	4: 17,853,854 (GRCm39)		probably null	Het
Mogat1	A	G	1: 78,504,255 (GRCm39)	D176G	possibly damaging	Het
Mre11a	T	A	9: 14,708,362 (GRCm39)	D142E	probably null	Het
Mybpc2	C	A	7: 44,159,254 (GRCm39)	V599L	probably benign	Het
Myot	A	T	18: 44,487,197 (GRCm39)	R345*	probably null	Het
Or10d5	G	A	9: 39,861,708 (GRCm39)	R120C	probably benign	Het
Or10z1	T	G	1: 174,078,130 (GRCm39)	D121A	possibly damaging	Het
Or8g53	C	T	9: 39,683,200 (GRCm39)	V299I	probably benign	Het
Pglyrp2	T	C	17: 32,635,003 (GRCm39)	Y453C	possibly damaging	Het
Phrf1	A	G	7: 140,836,493 (GRCm39)	Y255C	unknown	Het
Plppr4	A	G	3: 117,125,327 (GRCm39)	S171P	probably damaging	Het
Ppip5k1	A	T	2: 121,172,095 (GRCm39)		probably null	Het
Pramel57	T	C	5: 95,667,753 (GRCm39)	V111A	probably benign	Het
Rapgef3	A	T	15: 97,658,621 (GRCm39)	H170Q	probably benign	Het
Rnf10	ACCTCATCTCGTC	AC	5: 115,398,176 (GRCm39)		probably null	Het
Rpe65	A	G	3: 159,330,336 (GRCm39)	Y501C	probably benign	Het
Ruvbl2	A	G	7: 45,072,196 (GRCm39)	I346T	probably damaging	Het
Sema3g	A	G	14: 30,942,542 (GRCm39)	I48V	probably benign	Het
Slc4a10	A	C	2: 62,073,792 (GRCm39)	S285R	possibly damaging	Het
Slc6a11	G	A	6: 114,222,567 (GRCm39)	G521S	probably benign	Het
Slit3	A	G	11: 35,554,903 (GRCm39)	N912D	probably benign	Het
Traf3ip1	T	C	1: 91,428,523 (GRCm39)	V128A	unknown	Het
Trpc7	T	A	13: 57,035,693 (GRCm39)	N80I	probably damaging	Het
Ttc21b	G	A	2: 66,031,824 (GRCm39)	H1031Y	probably benign	Het
Tubg2	A	T	11: 101,051,082 (GRCm39)	I235F	probably benign	Het
Ube2q2l	A	G	6: 136,378,240 (GRCm39)	S197P	probably damaging	Het
Vmn2r118	A	T	17: 55,915,484 (GRCm39)	Y489N	probably benign	Het
Vmn2r54	G	T	7: 12,366,018 (GRCm39)	C305*	probably null	Het
Vmn2r86	G	A	10: 130,288,953 (GRCm39)	H183Y	probably benign	Het
Xrcc5	T	C	1: 72,396,016 (GRCm39)	V603A	probably damaging	Het
Zfp110	T	A	7: 12,578,498 (GRCm39)	Y136*	probably null	Het
Zfp112	C	T	7: 23,825,063 (GRCm39)	P348S	probably benign	Het

Other mutations in Lingo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01648:Lingo1	APN	9	56,527,111 (GRCm39)	missense	probably damaging	1.00
IGL02335:Lingo1	APN	9	56,527,365 (GRCm39)	missense	probably damaging	1.00
IGL03093:Lingo1	APN	9	56,526,748 (GRCm39)	missense	possibly damaging	0.90
3-1:Lingo1	UTSW	9	56,527,704 (GRCm39)	missense	probably benign	0.02
R1840:Lingo1	UTSW	9	56,527,842 (GRCm39)	missense	probably benign	0.38
R1932:Lingo1	UTSW	9	56,526,934 (GRCm39)	missense	possibly damaging	0.89
R2475:Lingo1	UTSW	9	56,526,910 (GRCm39)	missense	probably benign	0.03
R3439:Lingo1	UTSW	9	56,528,017 (GRCm39)	missense	probably benign	0.23
R3870:Lingo1	UTSW	9	56,527,009 (GRCm39)	missense	probably benign	0.00
R4241:Lingo1	UTSW	9	56,527,386 (GRCm39)	missense	probably damaging	1.00
R4701:Lingo1	UTSW	9	56,527,542 (GRCm39)	missense	probably damaging	1.00
R4757:Lingo1	UTSW	9	56,527,209 (GRCm39)	missense	probably benign	0.14
R5451:Lingo1	UTSW	9	56,527,711 (GRCm39)	missense	probably damaging	1.00
R6190:Lingo1	UTSW	9	56,526,934 (GRCm39)	missense	possibly damaging	0.89
R6254:Lingo1	UTSW	9	56,527,371 (GRCm39)	missense	possibly damaging	0.55
R6836:Lingo1	UTSW	9	56,527,056 (GRCm39)	missense	probably damaging	0.99
R6849:Lingo1	UTSW	9	56,526,900 (GRCm39)	missense	probably damaging	1.00
R6935:Lingo1	UTSW	9	56,527,149 (GRCm39)	missense	probably damaging	1.00
R7051:Lingo1	UTSW	9	56,527,467 (GRCm39)	missense	probably benign	0.35
R7116:Lingo1	UTSW	9	56,527,911 (GRCm39)	missense	probably benign	0.17
R7196:Lingo1	UTSW	9	56,527,903 (GRCm39)	missense	probably damaging	1.00
R7470:Lingo1	UTSW	9	56,527,908 (GRCm39)	missense	probably damaging	1.00
R7471:Lingo1	UTSW	9	56,528,167 (GRCm39)	nonsense	probably null
R7804:Lingo1	UTSW	9	56,526,798 (GRCm39)	missense	probably benign	0.00
R8534:Lingo1	UTSW	9	56,528,353 (GRCm39)	missense	probably benign	0.00
R8684:Lingo1	UTSW	9	56,528,106 (GRCm39)	missense	probably damaging	0.98
R9430:Lingo1	UTSW	9	56,527,512 (GRCm39)	missense	probably benign	0.09
R9794:Lingo1	UTSW	9	56,528,592 (GRCm39)	missense	probably benign
X0023:Lingo1	UTSW	9	56,527,312 (GRCm39)	nonsense	probably null
Z1177:Lingo1	UTSW	9	56,528,226 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- AGATGAAGCCCATGGTGGTG -3'
(R):5'- CACAGCAGGTGTTTGTAGATG -3'

Sequencing Primer
(F):5'- ATAATGAGCGTCTTGATGTCGAAG -3'
(R):5'- TTTGTAGATGAGGGCCACAC -3'

Posted On

2020-07-13