Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00474:Lrig1'

12711

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrig1

Ensembl Gene

ENSMUSG00000030029

Gene Name

leucine-rich repeats and immunoglobulin-like domains 1

Synonyms

LIG-1, Img

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00474

Quality Score

Status

Chromosome

Chromosomal Location

94581510-94677139 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 94588385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 588 (T588K)

Ref Sequence

ENSEMBL: ENSMUSP00000144963 (fasta)

Gene Model

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

AlphaFold

P70193

Predicted Effect

probably damaging
Transcript: ENSMUST00000032105
AA Change: T588K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032105
Gene: ENSMUSG00000030029
AA Change: T588K

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 damaging
Transcript: ENSMUST00000101126
AA Change: T588K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000098686
Gene: ENSMUSG00000030029
AA Change: T588K

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

probably damaging
Transcript: ENSMUST00000204645
AA Change: T588K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144963
Gene: ENSMUSG00000030029
AA Change: T588K

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

Coding Region Coverage

Validation Efficiency

MGI Phenotype

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: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	T	C	7: 133,511,610 (GRCm39)	K730R	possibly damaging	Het
Adgrf4	T	C	17: 42,986,650 (GRCm39)	I36M	probably damaging	Het
Atp2a1	A	T	7: 126,049,466 (GRCm39)	C525*	probably null	Het
Col11a1	A	C	3: 113,860,182 (GRCm39)	M203L	unknown	Het
Duox2	T	A	2: 122,114,056 (GRCm39)	M1159L	probably benign	Het
Harbi1	T	G	2: 91,542,971 (GRCm39)	V144G	probably damaging	Het
Kcp	A	G	6: 29,482,656 (GRCm39)	V1471A	probably benign	Het
Lyst	A	G	13: 13,818,121 (GRCm39)	I1264V	possibly damaging	Het
Slc4a11	A	T	2: 130,530,058 (GRCm39)	M240K	probably benign	Het
Vmn1r120	T	A	7: 20,786,935 (GRCm39)	I259F	probably benign	Het

Other mutations in Lrig1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01356:Lrig1	APN	6	94,586,874 (GRCm39)	missense	probably damaging	1.00
IGL01356:Lrig1	APN	6	94,631,901 (GRCm39)	missense	probably benign	0.00
IGL02001:Lrig1	APN	6	94,584,305 (GRCm39)	missense	probably benign	0.00
IGL02019:Lrig1	APN	6	94,593,410 (GRCm39)	missense	probably damaging	0.98
IGL02177:Lrig1	APN	6	94,640,977 (GRCm39)	missense	possibly damaging	0.76
IGL02274:Lrig1	APN	6	94,640,919 (GRCm39)	missense	possibly damaging	0.90
IGL03197:Lrig1	APN	6	94,583,099 (GRCm39)	missense	probably benign
IGL03263:Lrig1	APN	6	94,588,628 (GRCm39)	missense	probably benign	0.00
IGL03327:Lrig1	APN	6	94,583,104 (GRCm39)	missense	probably benign	0.10
N/A - 293:Lrig1	UTSW	6	94,586,068 (GRCm39)	missense	probably benign
R0019:Lrig1	UTSW	6	94,584,330 (GRCm39)	nonsense	probably null
R0019:Lrig1	UTSW	6	94,584,330 (GRCm39)	nonsense	probably null
R0961:Lrig1	UTSW	6	94,640,895 (GRCm39)	splice site	probably benign
R1018:Lrig1	UTSW	6	94,599,583 (GRCm39)	splice site	probably benign
R1381:Lrig1	UTSW	6	94,583,111 (GRCm39)	missense	probably benign	0.04
R1473:Lrig1	UTSW	6	94,584,294 (GRCm39)	missense	probably benign	0.16
R1498:Lrig1	UTSW	6	94,604,968 (GRCm39)	missense	possibly damaging	0.89
R1888:Lrig1	UTSW	6	94,631,859 (GRCm39)	missense	probably benign	0.03
R1888:Lrig1	UTSW	6	94,631,859 (GRCm39)	missense	probably benign	0.03
R2273:Lrig1	UTSW	6	94,585,124 (GRCm39)	missense	probably damaging	1.00
R2513:Lrig1	UTSW	6	94,594,347 (GRCm39)	splice site	probably null
R3001:Lrig1	UTSW	6	94,585,758 (GRCm39)	missense	probably damaging	1.00
R3002:Lrig1	UTSW	6	94,585,758 (GRCm39)	missense	probably damaging	1.00
R3732:Lrig1	UTSW	6	94,588,557 (GRCm39)	missense	possibly damaging	0.86
R3732:Lrig1	UTSW	6	94,588,557 (GRCm39)	missense	possibly damaging	0.86
R3733:Lrig1	UTSW	6	94,588,557 (GRCm39)	missense	possibly damaging	0.86
R3772:Lrig1	UTSW	6	94,582,798 (GRCm39)	missense	probably benign	0.00
R4089:Lrig1	UTSW	6	94,586,840 (GRCm39)	missense	possibly damaging	0.83
R4093:Lrig1	UTSW	6	94,590,559 (GRCm39)	missense	probably benign	0.10
R4095:Lrig1	UTSW	6	94,590,559 (GRCm39)	missense	probably benign	0.10
R4225:Lrig1	UTSW	6	94,599,639 (GRCm39)	missense	probably damaging	1.00
R4917:Lrig1	UTSW	6	94,586,700 (GRCm39)	missense	probably damaging	1.00
R4951:Lrig1	UTSW	6	94,640,959 (GRCm39)	missense	probably damaging	1.00
R4976:Lrig1	UTSW	6	94,602,043 (GRCm39)	missense	probably damaging	1.00
R5000:Lrig1	UTSW	6	94,588,430 (GRCm39)	missense	probably damaging	1.00
R5149:Lrig1	UTSW	6	94,605,025 (GRCm39)	missense	possibly damaging	0.93
R5732:Lrig1	UTSW	6	94,676,520 (GRCm39)	nonsense	probably null
R5988:Lrig1	UTSW	6	94,605,023 (GRCm39)	missense	probably damaging	0.99
R6064:Lrig1	UTSW	6	94,603,428 (GRCm39)	missense	probably damaging	1.00
R6292:Lrig1	UTSW	6	94,593,426 (GRCm39)	missense	probably damaging	1.00
R6723:Lrig1	UTSW	6	94,603,386 (GRCm39)	missense	probably damaging	1.00
R6815:Lrig1	UTSW	6	94,602,010 (GRCm39)	missense	probably damaging	1.00
R6889:Lrig1	UTSW	6	94,602,044 (GRCm39)	missense	probably benign	0.07
R6995:Lrig1	UTSW	6	94,588,610 (GRCm39)	missense	possibly damaging	0.95
R7404:Lrig1	UTSW	6	94,603,452 (GRCm39)	missense	probably damaging	1.00
R7487:Lrig1	UTSW	6	94,583,099 (GRCm39)	missense	probably benign
R7732:Lrig1	UTSW	6	94,603,358 (GRCm39)	missense	probably benign	0.05
R7915:Lrig1	UTSW	6	94,607,082 (GRCm39)	critical splice donor site	probably null
R8133:Lrig1	UTSW	6	94,588,610 (GRCm39)	missense	possibly damaging	0.95
R8768:Lrig1	UTSW	6	94,631,840 (GRCm39)	missense	possibly damaging	0.88
R9045:Lrig1	UTSW	6	94,585,688 (GRCm39)	critical splice donor site	probably null
R9227:Lrig1	UTSW	6	94,607,113 (GRCm39)	missense	probably damaging	1.00
Z1176:Lrig1	UTSW	6	94,586,007 (GRCm39)	missense	possibly damaging	0.50

Posted On

2012-12-06