Mutagenetix > Incidental Mutations

Incidental Mutation 'R3772:Lrig1'

273351

Institutional Source

Beutler Lab

Gene Symbol

Lrig1

Ensembl Gene

ENSMUSG00000030029

Gene Name

leucine-rich repeats and immunoglobulin-like domains 1

Synonyms

LIG-1, Img

MMRRC Submission

040748-MU

Accession Numbers

Genbank: NM_008377; MGI: 107935

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3772 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94604529-94700158 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94605817 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1073 (L1073P)

Ref Sequence

ENSEMBL: ENSMUSP00000144963 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032105] [ENSMUST00000061118] [ENSMUST00000101126] [ENSMUST00000204235] [ENSMUST00000204645] [ENSMUST00000204764]

Predicted Effect

probably benign
Transcript: ENSMUST00000032105
AA Change: L1073P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000032105
Gene: ENSMUSG00000030029
AA Change: L1073P

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
LRRNT	42	74	5.82e-6	SMART
LRR	68	92	4.83e0	SMART
LRR	93	115	9.96e-1	SMART
LRR	142	163	6.22e0	SMART
LRR	166	187	1.81e1	SMART
LRR	190	212	5.72e0	SMART
LRR	213	235	1.06e1	SMART
LRR_TYP	236	259	2.79e-4	SMART
LRR	260	283	2.54e1	SMART
LRR	284	307	9.96e-1	SMART
LRR	308	331	4.21e1	SMART
LRR_TYP	332	355	8.6e-5	SMART
LRR	356	382	1.06e1	SMART
LRR	383	406	9.96e-1	SMART
LRR_TYP	407	430	3.34e-2	SMART
LRRCT	442	492	3.5e-15	SMART
IGc2	509	586	1.34e-4	SMART
IGc2	613	681	2.87e-13	SMART
IGc2	707	772	6.44e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000061118

SMART Domains

Protein: ENSMUSP00000058028
Gene: ENSMUSG00000045100

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	2	82	7e-14	PFAM
Pfam:Mito_carr	84	173	4e-16	PFAM
Pfam:Mito_carr	176	269	2.8e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000101126
AA Change: L1073P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000098686
Gene: ENSMUSG00000030029
AA Change: L1073P

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
LRRNT	42	74	5.82e-6	SMART
LRR	68	92	4.83e0	SMART
LRR	93	115	9.96e-1	SMART
LRR	142	163	6.22e0	SMART
LRR	166	187	1.81e1	SMART
LRR	190	212	5.72e0	SMART
LRR	213	235	1.06e1	SMART
LRR_TYP	236	259	2.79e-4	SMART
LRR	260	283	2.54e1	SMART
LRR	284	307	9.96e-1	SMART
LRR	308	331	4.21e1	SMART
LRR_TYP	332	355	8.6e-5	SMART
LRR	356	382	1.06e1	SMART
LRR	383	406	9.96e-1	SMART
LRR_TYP	407	430	3.34e-2	SMART
LRRCT	442	492	3.5e-15	SMART
IGc2	509	586	1.34e-4	SMART
IGc2	613	681	2.87e-13	SMART
IGc2	707	772	6.44e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183891

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203484

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203876

Predicted Effect

probably benign
Transcript: ENSMUST00000204235

SMART Domains

Protein: ENSMUSP00000145328
Gene: ENSMUSG00000045100

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	2	43	2.7e-7	PFAM
Pfam:Mito_carr	38	82	8.2e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204645
AA Change: L1073P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000144963
Gene: ENSMUSG00000030029
AA Change: L1073P

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
LRRNT	42	74	5.82e-6	SMART
LRR	68	92	4.83e0	SMART
LRR	93	115	9.96e-1	SMART
LRR	142	163	6.22e0	SMART
LRR	166	187	1.81e1	SMART
LRR	190	212	5.72e0	SMART
LRR	213	235	1.06e1	SMART
LRR_TYP	236	259	2.79e-4	SMART
LRR	260	283	2.54e1	SMART
LRR	284	307	9.96e-1	SMART
LRR	308	331	4.21e1	SMART
LRR_TYP	332	355	8.6e-5	SMART
LRR	356	382	1.06e1	SMART
LRR	383	406	9.96e-1	SMART
LRR_TYP	407	430	3.34e-2	SMART
LRRCT	442	492	3.5e-15	SMART
IGc2	509	586	1.34e-4	SMART
IGc2	613	681	2.87e-13	SMART
IGc2	707	772	6.44e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204764

SMART Domains

Protein: ENSMUSP00000144816
Gene: ENSMUSG00000045100

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	2	44	1e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205173

Meta Mutation Damage Score

0.0614

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (77/77)

MGI Phenotype

Strain: 2675424
PHENOTYPE: Homozygous null mice developed psoriasiform epidermal hyperplasia. Homozygotes exhibit hair follicle, epidermis, vertebral, eye and hearing abnormalities, decreased body size and fat amount, and increased susceptibility to bacterial infection. [provided by MGI curators]

Allele List at MGI

All alleles(5) : Targeted(4) Gene trapped(1)

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810041L15Rik	A	T	15: 84,406,685	Y120*	probably null	Het
Abcb11	T	A	2: 69,329,376		probably benign	Het
Adgrl1	A	G	8: 83,923,004	N97S	possibly damaging	Het
Aldh1a2	A	G	9: 71,252,920	D76G	probably damaging	Het
Aldh3a1	A	G	11: 61,214,605	E179G	possibly damaging	Het
Ap1g1	A	G	8: 109,837,786	D324G	probably damaging	Het
Arfgap2	A	G	2: 91,265,366	T12A	probably benign	Het
Aurka	A	G	2: 172,366,960	L85P	probably benign	Het
Birc6	T	A	17: 74,618,429		probably benign	Het
Bmp7	A	T	2: 172,870,222	I403N	probably damaging	Het
Carns1	A	G	19: 4,170,916		probably benign	Het
Ccdc88c	G	A	12: 100,966,100		probably benign	Het
Ccl2	C	T	11: 82,036,958	A76V	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Clstn2	A	G	9: 97,582,562	I180T	probably damaging	Het
Col24a1	T	C	3: 145,545,286	L1680P	probably damaging	Het
Col4a6	C	A	X: 141,172,200	G1416C	probably damaging	Het
Ctnna2	T	G	6: 76,973,769	N573T	probably damaging	Het
Cts8	G	A	13: 61,250,901		probably benign	Het
Cxcl17	A	G	7: 25,400,329		probably benign	Het
Defb18	T	C	1: 18,236,621	H37R	possibly damaging	Het
Dis3l2	T	C	1: 86,854,408	I229T	probably benign	Het
Dysf	G	A	6: 84,152,351	S1474N	possibly damaging	Het
Elf1	T	C	14: 79,567,210	V105A	possibly damaging	Het
F13a1	T	C	13: 36,898,134	K532R	probably benign	Het
Fmn1	T	G	2: 113,582,118	S996A	probably damaging	Het
Focad	A	C	4: 88,336,161		probably benign	Het
Frmd4a	A	T	2: 4,590,622	E109D	probably damaging	Het
Frrs1	T	G	3: 116,878,387	S45A	possibly damaging	Het
Gm5422	T	A	10: 31,248,514		noncoding transcript	Het
Gm5866	T	C	5: 52,582,746		noncoding transcript	Het
Hmcn2	C	T	2: 31,360,896	T790M	probably damaging	Het
Iglon5	A	T	7: 43,480,613	Y42*	probably null	Het
Khdrbs2	C	T	1: 32,244,076	Q90*	probably null	Het
Krt74	T	C	15: 101,762,195		noncoding transcript	Het
Lamc2	T	A	1: 153,124,251	M1121L	probably benign	Het
Lrp5	G	A	19: 3,612,330	R173C	probably damaging	Het
Man2c1	C	A	9: 57,140,377		probably benign	Het
Megf10	G	A	18: 57,283,862	D768N	probably benign	Het
Mycbp2	T	C	14: 103,133,788	N4108S	possibly damaging	Het
Nid1	A	G	13: 13,476,418		probably benign	Het
Nnt	A	G	13: 119,396,952	V59A	probably damaging	Het
Nsd1	G	A	13: 55,246,673	V696I	probably benign	Het
Olfr99	T	C	17: 37,279,854	T189A	probably benign	Het
Pag1	G	A	3: 9,699,628	T155M	probably benign	Het
Pgam5	T	C	5: 110,265,593	H176R	probably damaging	Het
Pid1	T	C	1: 84,038,197	D149G	probably damaging	Het
Pkp3	G	A	7: 141,082,346	M1I	probably null	Het
Pld2	C	T	11: 70,544,123		probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Ptprs	T	C	17: 56,428,978	T152A	possibly damaging	Het
Rab9b	T	A	X: 136,861,449	E67D	probably damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Rnf214	T	C	9: 45,866,634	M625V	possibly damaging	Het
Rwdd2a	A	C	9: 86,574,161	N130T	possibly damaging	Het
Scn9a	T	C	2: 66,483,648	N1909D	probably benign	Het
Sept10	A	T	10: 59,176,887	M303K	probably damaging	Het
Sez6l2	A	G	7: 126,959,203	E339G	probably damaging	Het
Sf3b1	C	A	1: 54,999,991		probably benign	Het
Ska3	C	T	14: 57,810,077	V334I	probably benign	Het
Srebf2	A	G	15: 82,182,108	K579R	probably benign	Het
St18	A	T	1: 6,844,329	K799I	probably damaging	Het
Strada	C	T	11: 106,164,822	R333Q	probably damaging	Het
Stradb	A	T	1: 58,985,385	I64L	probably benign	Het
Sun1	A	G	5: 139,238,820		probably benign	Het
Tecta	T	C	9: 42,330,996	T2094A	probably damaging	Het
Tenm4	A	T	7: 96,694,880	R227W	probably damaging	Het
Tnk2	A	G	16: 32,679,822	D651G	probably damaging	Het
Trim43c	A	T	9: 88,847,757	D417V	probably damaging	Het
Tsc22d4	T	C	5: 137,759,233	L374P	possibly damaging	Het
Ttn	T	C	2: 76,771,367	T16872A	probably benign	Het
Ubr4	T	C	4: 139,452,700	V262A	possibly damaging	Het
Vmn2r60	A	T	7: 42,116,556	N29I	probably benign	Het
Xrn2	T	C	2: 147,061,287	V765A	probably benign	Het
Zbed4	C	T	15: 88,780,787	P353S	probably benign	Het
Zfp251	A	G	15: 76,853,636	I414T	possibly damaging	Het
Zfp426	A	T	9: 20,473,117		probably null	Het
Zwilch	A	T	9: 64,156,034	F286I	probably benign	Het

Other mutations in Lrig1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00474:Lrig1	APN	6	94611404	missense	probably damaging	0.99
IGL01356:Lrig1	APN	6	94654920	missense	probably benign	0.00
IGL01356:Lrig1	APN	6	94609893	missense	probably damaging	1.00
IGL02001:Lrig1	APN	6	94607324	missense	probably benign	0.00
IGL02019:Lrig1	APN	6	94616429	missense	probably damaging	0.98
IGL02177:Lrig1	APN	6	94663996	missense	possibly damaging	0.76
IGL02274:Lrig1	APN	6	94663938	missense	possibly damaging	0.90
IGL03197:Lrig1	APN	6	94606118	missense	probably benign
IGL03263:Lrig1	APN	6	94611647	missense	probably benign	0.00
IGL03327:Lrig1	APN	6	94606123	missense	probably benign	0.10
N/A - 293:Lrig1	UTSW	6	94609087	missense	probably benign
R0019:Lrig1	UTSW	6	94607349	nonsense	probably null
R0019:Lrig1	UTSW	6	94607349	nonsense	probably null
R0961:Lrig1	UTSW	6	94663914	splice site	probably benign
R1018:Lrig1	UTSW	6	94622602	splice site	probably benign
R1381:Lrig1	UTSW	6	94606130	missense	probably benign	0.04
R1473:Lrig1	UTSW	6	94607313	missense	probably benign	0.16
R1498:Lrig1	UTSW	6	94627987	missense	possibly damaging	0.89
R1888:Lrig1	UTSW	6	94654878	missense	probably benign	0.03
R1888:Lrig1	UTSW	6	94654878	missense	probably benign	0.03
R2273:Lrig1	UTSW	6	94608143	missense	probably damaging	1.00
R2513:Lrig1	UTSW	6	94617366	splice site	probably null
R3001:Lrig1	UTSW	6	94608777	missense	probably damaging	1.00
R3002:Lrig1	UTSW	6	94608777	missense	probably damaging	1.00
R3732:Lrig1	UTSW	6	94611576	missense	possibly damaging	0.86
R3732:Lrig1	UTSW	6	94611576	missense	possibly damaging	0.86
R3733:Lrig1	UTSW	6	94611576	missense	possibly damaging	0.86
R4089:Lrig1	UTSW	6	94609859	missense	possibly damaging	0.83
R4093:Lrig1	UTSW	6	94613578	missense	probably benign	0.10
R4095:Lrig1	UTSW	6	94613578	missense	probably benign	0.10
R4225:Lrig1	UTSW	6	94622658	missense	probably damaging	1.00
R4917:Lrig1	UTSW	6	94609719	missense	probably damaging	1.00
R4951:Lrig1	UTSW	6	94663978	missense	probably damaging	1.00
R4976:Lrig1	UTSW	6	94625062	missense	probably damaging	1.00
R5000:Lrig1	UTSW	6	94611449	missense	probably damaging	1.00
R5149:Lrig1	UTSW	6	94628044	missense	possibly damaging	0.93
R5732:Lrig1	UTSW	6	94699539	nonsense	probably null
R5988:Lrig1	UTSW	6	94628042	missense	probably damaging	0.99
R6064:Lrig1	UTSW	6	94626447	missense	probably damaging	1.00
R6292:Lrig1	UTSW	6	94616445	missense	probably damaging	1.00
R6723:Lrig1	UTSW	6	94626405	missense	probably damaging	1.00
R6815:Lrig1	UTSW	6	94625029	missense	probably damaging	1.00
R6889:Lrig1	UTSW	6	94625063	missense	probably benign	0.07
R6995:Lrig1	UTSW	6	94611629	missense	possibly damaging	0.95
R7404:Lrig1	UTSW	6	94626471	missense	probably damaging	1.00
R7487:Lrig1	UTSW	6	94606118	missense	probably benign
R7732:Lrig1	UTSW	6	94626377	missense	probably benign	0.05
R7915:Lrig1	UTSW	6	94630101	critical splice donor site	probably null
R8133:Lrig1	UTSW	6	94611629	missense	possibly damaging	0.95
Z1176:Lrig1	UTSW	6	94609026	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- CTCACGTTTCTGAGCTCCAG -3'
(R):5'- GAGATTCCTCTTGGACTTTAGCAAAG -3'

Sequencing Primer
(F):5'- TAGCCGACTGACTGACATTC -3'
(R):5'- GTTACATGAAGCAGACTGCATAGACC -3'

Posted On

2015-03-25