Mutagenetix > Incidental Mutation

Incidental Mutation 'R6265:Lair1'

527955

Institutional Source

Beutler Lab

Gene Symbol

Lair1

Ensembl Gene

ENSMUSG00000055541

Gene Name

leukocyte-associated Ig-like receptor 1

Synonyms

5133400O11Rik, Lair-1, D7Bwg0421e, mLair-1

MMRRC Submission

044438-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6265 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4006401-4066203 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 4058826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145940 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068865] [ENSMUST00000086400] [ENSMUST00000086401] [ENSMUST00000108600] [ENSMUST00000131126] [ENSMUST00000136616] [ENSMUST00000149395] [ENSMUST00000205296]

AlphaFold

Q8BG84

Predicted Effect

probably benign
Transcript: ENSMUST00000068865

SMART Domains

Protein: ENSMUSP00000070712
Gene: ENSMUSG00000055541

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
transmembrane domain	33	55	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000086400

SMART Domains

Protein: ENSMUSP00000083588
Gene: ENSMUSG00000055541

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
PDB:4ETY\|D	22	134	5e-79	PDB
SCOP:d1nkr_2	24	118	2e-9	SMART
Blast:IG	38	119	9e-27	BLAST
transmembrane domain	143	165	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000086401

SMART Domains

Protein: ENSMUSP00000083589
Gene: ENSMUSG00000055541

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
PDB:4ETY\|D	22	134	1e-78	PDB
SCOP:d1nkr_2	24	118	2e-9	SMART
Blast:IG	38	119	2e-26	BLAST
transmembrane domain	143	165	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108600

SMART Domains

Protein: ENSMUSP00000104241
Gene: ENSMUSG00000055541

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
PDB:4ETY\|D	22	133	8e-79	PDB
SCOP:d1nkr_2	24	118	1e-9	SMART
Blast:IG	38	119	6e-27	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119711

SMART Domains

Protein: ENSMUSP00000113871
Gene: ENSMUSG00000055541

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
PDB:4ETY\|D	22	133	4e-79	PDB
SCOP:d1nkr_2	24	118	7e-9	SMART
Blast:IG	38	119	2e-27	BLAST

Predicted Effect

unknown
Transcript: ENSMUST00000131126
AA Change: Y54F

SMART Domains

Protein: ENSMUSP00000121738
Gene: ENSMUSG00000055541
AA Change: Y54F

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000136616
AA Change: Y54F

SMART Domains

Protein: ENSMUSP00000122037
Gene: ENSMUSG00000055541
AA Change: Y54F

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000149395
AA Change: Y54F

SMART Domains

Protein: ENSMUSP00000116800
Gene: ENSMUSG00000055541
AA Change: Y54F

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205296

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an inhibitory receptor found on peripheral mononuclear cells, including natural killer cells, T cells, and B cells. Inhibitory receptors regulate the immune response to prevent lysis of cells recognized as self. The gene is a member of both the immunoglobulin superfamily and the leukocyte-associated inhibitory receptor family. The gene maps to a region of 19q13.4 called the leukocyte receptor cluster, which contains at least 29 genes encoding leukocyte-expressed receptors of the immunoglobulin superfamily. The encoded protein has been identified as an anchor for tyrosine phosphatase SHP-1, and may induce cell death in myeloid leukemias. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a knock-out allele are healthy and of normal longevity but show increased numbers of splenic B, regulatory T, and dendritic cells, and eosinophilia at a young age. Aging homozygotes display a higher frequency of activated and effector/memory T cells and a decreased IgG1 level. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	C	T	4: 137,181,986 (GRCm39)	P47L	probably damaging	Het
Acot1	T	C	12: 84,063,687 (GRCm39)	I265T	probably benign	Het
Amotl1	T	C	9: 14,482,951 (GRCm39)	D587G	possibly damaging	Het
Anks1b	T	G	10: 90,777,362 (GRCm39)	D1117E	probably damaging	Het
Art4	T	G	6: 136,831,886 (GRCm39)	N85T	probably damaging	Het
Asb3	C	A	11: 31,035,143 (GRCm39)	Q462K	probably benign	Het
Atcay	C	T	10: 81,049,114 (GRCm39)	E163K	possibly damaging	Het
Atp6v0e	T	C	17: 26,895,507 (GRCm39)	V20A	possibly damaging	Het
Atp7b	G	A	8: 22,505,943 (GRCm39)	Q520*	probably null	Het
Baat	A	T	4: 49,502,836 (GRCm39)	D95E	possibly damaging	Het
Cars2	TCCCC	TCCC	8: 11,579,599 (GRCm39)		probably null	Het
Ccdc24	G	A	4: 117,728,374 (GRCm39)	Q47*	probably null	Het
Cep170b	C	A	12: 112,710,993 (GRCm39)	Q1488K	probably damaging	Het
Cldn24	A	C	8: 48,275,374 (GRCm39)	D66A	probably benign	Het
Cln5	C	A	14: 103,310,663 (GRCm39)	T110K	probably damaging	Het
Clvs2	C	A	10: 33,404,511 (GRCm39)	S235I	possibly damaging	Het
Col5a3	C	T	9: 20,705,060 (GRCm39)	G730R	unknown	Het
Crim1	C	T	17: 78,677,514 (GRCm39)	P905L	probably benign	Het
Cxxc4	T	C	3: 133,963,824 (GRCm39)	V356A	probably benign	Het
Dctn6	G	T	8: 34,562,057 (GRCm39)	N93K	probably damaging	Het
Dnah9	G	A	11: 66,058,920 (GRCm39)	A125V	probably benign	Het
Dnhd1	T	C	7: 105,342,577 (GRCm39)	I1307T	probably benign	Het
Dpy19l1	T	A	9: 24,343,667 (GRCm39)	I493F	possibly damaging	Het
Ebf2	A	G	14: 67,661,509 (GRCm39)	I546V	probably benign	Het
Fbll1	T	C	11: 35,688,636 (GRCm39)	E209G	probably damaging	Het
Foxj2	G	A	6: 122,805,133 (GRCm39)	A2T	probably damaging	Het
Foxs1	A	T	2: 152,774,098 (GRCm39)	C318*	probably null	Het
Gorab	T	C	1: 163,214,199 (GRCm39)	T244A	possibly damaging	Het
Gtsf1l	C	A	2: 162,929,583 (GRCm39)		probably benign	Het
Herc1	T	C	9: 66,279,298 (GRCm39)	S69P	probably benign	Het
Hpca	C	T	4: 129,012,445 (GRCm39)	W30*	probably null	Het
Ing3	C	A	6: 21,953,813 (GRCm39)	Q85K	probably damaging	Het
Klhdc8b	T	C	9: 108,325,624 (GRCm39)	E264G	probably damaging	Het
Lama1	T	C	17: 68,057,650 (GRCm39)	Y575H	probably damaging	Het
Lamtor2	C	A	3: 88,458,020 (GRCm39)	G29*	probably null	Het
Loxhd1	A	T	18: 77,449,426 (GRCm39)	D341V	probably damaging	Het
Lrp2	T	A	2: 69,296,684 (GRCm39)	D3290V	probably damaging	Het
Matn2	A	T	15: 34,399,301 (GRCm39)	D396V	probably damaging	Het
Me3	T	A	7: 89,498,951 (GRCm39)	D510E	probably benign	Het
Melk	A	G	4: 44,318,109 (GRCm39)	Y170C	probably damaging	Het
Mgat2	T	C	12: 69,231,567 (GRCm39)	V47A	probably benign	Het
Mindy4	T	C	6: 55,278,049 (GRCm39)	I631T	probably damaging	Het
Myo5b	T	A	18: 74,710,511 (GRCm39)		probably null	Het
Myo7b	A	T	18: 32,131,203 (GRCm39)	D521E	probably damaging	Het
Nlrp9b	T	A	7: 19,796,608 (GRCm39)	F986I	probably benign	Het
Or8k39	A	G	2: 86,563,299 (GRCm39)	L219P	probably damaging	Het
Patj	A	G	4: 98,357,804 (GRCm39)	D690G	probably benign	Het
Pias2	T	C	18: 77,184,954 (GRCm39)	S5P	probably damaging	Het
Reep4	A	T	14: 70,785,143 (GRCm39)	S150C	probably damaging	Het
Slc25a21	T	C	12: 57,243,685 (GRCm39)	R14G	probably benign	Het
Slc6a6	G	C	6: 91,731,896 (GRCm39)	R575T	probably damaging	Het
Speg	T	A	1: 75,383,323 (GRCm39)	Y886*	probably null	Het
Tas2r103	A	C	6: 133,013,494 (GRCm39)	F191V	probably damaging	Het
Tbc1d19	A	G	5: 53,995,266 (GRCm39)	D145G	probably benign	Het
Tex47	T	A	5: 7,355,461 (GRCm39)	I214N	probably damaging	Het
Tnnt3	A	T	7: 142,055,382 (GRCm39)	D3V	probably damaging	Het
Trdv2-1	T	G	14: 54,183,842 (GRCm39)	S24A	probably benign	Het
Ubr4	A	G	4: 139,179,951 (GRCm39)	D3377G	possibly damaging	Het
Ugt3a1	A	T	15: 9,361,665 (GRCm39)	D147V	probably damaging	Het
Usp9y	A	T	Y: 1,446,843 (GRCm39)	D103E	probably benign	Homo
Vmn1r168	A	G	7: 23,240,961 (GRCm39)	I273V	probably benign	Het
Vmn2r61	T	C	7: 41,915,915 (GRCm39)	I176T	probably benign	Het
Vmn2r8	T	A	5: 108,956,463 (GRCm39)	D53V	probably benign	Het
Zbtb8os	A	T	4: 129,229,775 (GRCm39)		probably benign	Het
Zfp551	C	T	7: 12,149,339 (GRCm39)	R690Q	probably damaging	Het

Other mutations in Lair1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00672:Lair1	APN	7	4,031,730 (GRCm39)	missense	probably benign	0.01
IGL01475:Lair1	APN	7	4,012,683 (GRCm39)	utr 3 prime	probably benign
IGL02696:Lair1	APN	7	4,013,848 (GRCm39)	intron	probably benign
IGL02749:Lair1	APN	7	4,031,900 (GRCm39)	missense	possibly damaging	0.50
R0396:Lair1	UTSW	7	4,013,785 (GRCm39)	missense	probably damaging	1.00
R0703:Lair1	UTSW	7	4,013,759 (GRCm39)	missense	probably null	0.99
R1053:Lair1	UTSW	7	4,031,784 (GRCm39)	missense	probably damaging	1.00
R1332:Lair1	UTSW	7	4,013,595 (GRCm39)	missense	possibly damaging	0.77
R1717:Lair1	UTSW	7	4,013,788 (GRCm39)	missense	probably damaging	1.00
R2022:Lair1	UTSW	7	4,066,063 (GRCm39)	splice site	probably null
R2509:Lair1	UTSW	7	4,013,782 (GRCm39)	missense	probably damaging	1.00
R3721:Lair1	UTSW	7	4,013,782 (GRCm39)	missense	probably damaging	1.00
R4021:Lair1	UTSW	7	4,058,915 (GRCm39)	critical splice donor site	probably null
R4784:Lair1	UTSW	7	4,012,731 (GRCm39)	missense	probably benign	0.15
R4873:Lair1	UTSW	7	4,032,033 (GRCm39)	missense	probably benign	0.05
R4875:Lair1	UTSW	7	4,032,033 (GRCm39)	missense	probably benign	0.05
R4940:Lair1	UTSW	7	4,031,948 (GRCm39)	missense	probably benign	0.00
R5125:Lair1	UTSW	7	4,013,488 (GRCm39)	missense	possibly damaging	0.92
R5178:Lair1	UTSW	7	4,013,488 (GRCm39)	missense	possibly damaging	0.92
R5888:Lair1	UTSW	7	4,013,844 (GRCm39)	missense	probably damaging	0.96
R5965:Lair1	UTSW	7	4,032,023 (GRCm39)	missense	possibly damaging	0.46
R6119:Lair1	UTSW	7	4,031,895 (GRCm39)	missense	probably benign	0.43
R6305:Lair1	UTSW	7	4,013,727 (GRCm39)	critical splice donor site	probably null
R6915:Lair1	UTSW	7	4,058,952 (GRCm39)	missense	possibly damaging	0.89
R7964:Lair1	UTSW	7	4,013,803 (GRCm39)	missense	probably benign	0.22
R7991:Lair1	UTSW	7	4,031,969 (GRCm39)	missense	probably damaging	1.00
R9414:Lair1	UTSW	7	4,013,819 (GRCm39)	missense	probably benign	0.09
R9787:Lair1	UTSW	7	4,013,794 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACTCTCAAGAGATTGGAGTCCC -3'
(R):5'- TCATCTCTAAGCAAACTGTGGG -3'

Sequencing Primer
(F):5'- GGGGAAGTCCTCATGGAGAC -3'
(R):5'- CTCTAAGCAAACTGTGGGTAATG -3'

Posted On

2018-07-23