Incidental Mutation 'IGL01475:Lair1'
ID |
88450 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lair1
|
Ensembl Gene |
ENSMUSG00000055541 |
Gene Name |
leukocyte-associated Ig-like receptor 1 |
Synonyms |
5133400O11Rik, Lair-1, D7Bwg0421e, mLair-1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01475
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
4006401-4066203 bp(-) (GRCm39) |
Type of Mutation |
utr 3 prime |
DNA Base Change (assembly) |
C to A
at 4012683 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 |
probably benign
Transcript: ENSMUST00000131126
|
SMART Domains |
Protein: ENSMUSP00000121738 Gene: ENSMUSG00000055541
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136616
|
SMART Domains |
Protein: ENSMUSP00000122037 Gene: ENSMUSG00000055541
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149395
|
SMART Domains |
Protein: ENSMUSP00000116800 Gene: ENSMUSG00000055541
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206445
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205296
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700129C05Rik |
A |
T |
14: 59,380,252 (GRCm39) |
N15K |
possibly damaging |
Het |
Adam32 |
A |
T |
8: 25,362,664 (GRCm39) |
I587K |
probably damaging |
Het |
Adamtsl4 |
T |
C |
3: 95,584,843 (GRCm39) |
S942G |
probably benign |
Het |
Adamtsl5 |
A |
G |
10: 80,180,750 (GRCm39) |
F104S |
probably damaging |
Het |
Adgrf5 |
A |
G |
17: 43,761,245 (GRCm39) |
D980G |
probably benign |
Het |
Apba1 |
A |
T |
19: 23,894,950 (GRCm39) |
D462V |
possibly damaging |
Het |
Arhgef11 |
T |
C |
3: 87,634,433 (GRCm39) |
|
probably benign |
Het |
Cd74 |
T |
C |
18: 60,943,393 (GRCm39) |
|
probably benign |
Het |
Cdc16 |
T |
C |
8: 13,831,542 (GRCm39) |
S592P |
probably benign |
Het |
Cenpj |
A |
G |
14: 56,802,502 (GRCm39) |
M21T |
possibly damaging |
Het |
Col28a1 |
A |
G |
6: 8,103,521 (GRCm39) |
L425S |
probably damaging |
Het |
Dbt |
C |
T |
3: 116,313,908 (GRCm39) |
T25I |
possibly damaging |
Het |
Dguok |
C |
A |
6: 83,467,552 (GRCm39) |
M98I |
possibly damaging |
Het |
Dmxl1 |
T |
C |
18: 50,004,781 (GRCm39) |
L943P |
probably damaging |
Het |
Eloa |
G |
A |
4: 135,738,231 (GRCm39) |
S243L |
probably benign |
Het |
Enkur |
C |
A |
2: 21,201,530 (GRCm39) |
A52S |
probably damaging |
Het |
Ezh1 |
T |
C |
11: 101,083,787 (GRCm39) |
E744G |
probably damaging |
Het |
Fbxw11 |
T |
C |
11: 32,672,101 (GRCm39) |
S190P |
possibly damaging |
Het |
Foxb1 |
G |
A |
9: 69,666,550 (GRCm39) |
|
probably benign |
Het |
Gabra5 |
C |
T |
7: 57,058,432 (GRCm39) |
G439S |
probably damaging |
Het |
Gtf2h2 |
A |
T |
13: 100,617,541 (GRCm39) |
V207D |
probably damaging |
Het |
Hoatz |
A |
G |
9: 51,011,358 (GRCm39) |
I93T |
probably benign |
Het |
Krt76 |
A |
G |
15: 101,796,948 (GRCm39) |
V317A |
probably benign |
Het |
Lrit2 |
T |
A |
14: 36,791,051 (GRCm39) |
H243Q |
probably damaging |
Het |
Mast3 |
C |
T |
8: 71,232,174 (GRCm39) |
A1268T |
probably damaging |
Het |
Matn2 |
G |
A |
15: 34,316,671 (GRCm39) |
M4I |
possibly damaging |
Het |
Mob1b |
T |
A |
5: 88,897,502 (GRCm39) |
F137I |
probably damaging |
Het |
Mreg |
T |
C |
1: 72,203,325 (GRCm39) |
|
probably benign |
Het |
Nom1 |
T |
C |
5: 29,651,272 (GRCm39) |
V684A |
possibly damaging |
Het |
Pate2 |
T |
A |
9: 35,580,998 (GRCm39) |
L1Q |
probably null |
Het |
Pla2r1 |
T |
C |
2: 60,271,425 (GRCm39) |
|
probably benign |
Het |
Plxna1 |
A |
G |
6: 89,331,870 (GRCm39) |
F447L |
possibly damaging |
Het |
Pno1 |
A |
T |
11: 17,160,992 (GRCm39) |
I114N |
probably damaging |
Het |
Ppp1r7 |
T |
G |
1: 93,288,540 (GRCm39) |
|
probably benign |
Het |
Pprc1 |
T |
A |
19: 46,059,968 (GRCm39) |
Y1503N |
probably benign |
Het |
Rab30 |
T |
C |
7: 92,484,930 (GRCm39) |
V132A |
probably damaging |
Het |
Slc15a4 |
T |
C |
5: 127,679,024 (GRCm39) |
T439A |
probably benign |
Het |
Slc29a3 |
A |
G |
10: 60,559,596 (GRCm39) |
V186A |
possibly damaging |
Het |
Stxbp5l |
G |
A |
16: 37,165,454 (GRCm39) |
T88I |
possibly damaging |
Het |
Tarbp1 |
A |
G |
8: 127,160,701 (GRCm39) |
V1250A |
probably benign |
Het |
Tcte2 |
A |
T |
17: 13,937,824 (GRCm39) |
|
probably benign |
Het |
Trp53bp1 |
A |
T |
2: 121,100,800 (GRCm39) |
|
probably null |
Het |
Trpc4 |
A |
T |
3: 54,173,828 (GRCm39) |
L407F |
possibly damaging |
Het |
Vmn1r6 |
T |
C |
6: 56,979,896 (GRCm39) |
F164S |
probably damaging |
Het |
Zfp579 |
C |
A |
7: 4,997,743 (GRCm39) |
R56L |
probably benign |
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 |
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 |
R6265:Lair1
|
UTSW |
7 |
4,058,826 (GRCm39) |
intron |
probably benign |
|
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 |
|
Posted On |
2013-11-18 |