Incidental Mutation 'R5125:Lair1'
| ID |
393497 |
| 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 |
042713-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5125 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
4006401-4066203 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 4013488 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 82
(T82I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070712
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068865]
[ENSMUST00000086400]
[ENSMUST00000086401]
[ENSMUST00000108600]
[ENSMUST00000131126]
[ENSMUST00000136616]
[ENSMUST00000149395]
[ENSMUST00000205296]
|
| AlphaFold |
Q8BG84 |
| PDB Structure |
Crystal structure of a strand-swapped dimer of Mouse Leukocyte-associated immunoglobulin-like receptor 1 (NYSGRC-006047)IG-like domain [X-RAY DIFFRACTION]
Crystal structure of a strand-swapped dimer of Mouse Leukocyte-associated immunoglobulin-like receptor 1 (NYSGRC-006047) Extra Cellular Domain [X-RAY DIFFRACTION]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068865
AA Change: T82I
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000070712
Gene: ENSMUSG00000055541
AA Change: T82I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
transmembrane domain
|
33 |
55 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086400
AA Change: T192I
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000083588
Gene: ENSMUSG00000055541
AA Change: T192I
| 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 |
possibly damaging
Transcript: ENSMUST00000086401
AA Change: T192I
PolyPhen 2
Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000083589
Gene: ENSMUSG00000055541
AA Change: T192I
| 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 |
possibly damaging
Transcript: ENSMUST00000108600
AA Change: T153I
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000104241
Gene: ENSMUSG00000055541
AA Change: T153I
| 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 |
possibly damaging
Transcript: ENSMUST00000205296
AA Change: T43I
PolyPhen 2
Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206445
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
| Validation Efficiency |
96% (49/51) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abt1 |
G |
T |
13: 23,606,819 (GRCm39) |
A94E |
possibly damaging |
Het |
| Carmil2 |
G |
T |
8: 106,423,521 (GRCm39) |
G1207V |
probably damaging |
Het |
| Cyp2c66 |
A |
G |
19: 39,159,473 (GRCm39) |
Y308C |
probably damaging |
Het |
| Dcc |
A |
G |
18: 71,589,948 (GRCm39) |
F683L |
probably benign |
Het |
| Denr |
A |
T |
5: 124,065,144 (GRCm39) |
I166F |
probably damaging |
Het |
| Dhx29 |
T |
G |
13: 113,069,134 (GRCm39) |
S155A |
possibly damaging |
Het |
| Dsg1b |
G |
A |
18: 20,530,560 (GRCm39) |
G405E |
probably damaging |
Het |
| Ei24 |
T |
A |
9: 36,693,742 (GRCm39) |
|
probably benign |
Het |
| Exo5 |
A |
T |
4: 120,778,734 (GRCm39) |
|
probably null |
Het |
| Gm7356 |
T |
C |
17: 14,221,576 (GRCm39) |
D151G |
probably damaging |
Het |
| Grin1 |
T |
C |
2: 25,186,839 (GRCm39) |
|
probably benign |
Het |
| Grin2b |
C |
T |
6: 135,900,297 (GRCm39) |
V195M |
possibly damaging |
Het |
| Hephl1 |
T |
A |
9: 14,997,468 (GRCm39) |
K399N |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,489,379 (GRCm39) |
V4520A |
probably damaging |
Het |
| Lmx1a |
C |
T |
1: 167,658,256 (GRCm39) |
S213L |
possibly damaging |
Het |
| Ly6g6d |
A |
G |
17: 35,293,418 (GRCm39) |
I8T |
possibly damaging |
Het |
| Mcm4 |
T |
A |
16: 15,453,167 (GRCm39) |
D174V |
probably benign |
Het |
| Mcph1 |
T |
A |
8: 18,657,342 (GRCm39) |
D60E |
probably damaging |
Het |
| Med12l |
G |
A |
3: 59,174,635 (GRCm39) |
G1851D |
possibly damaging |
Het |
| Or13c7b |
T |
A |
4: 43,820,480 (GRCm39) |
I294F |
probably benign |
Het |
| Or7e174 |
T |
A |
9: 20,012,488 (GRCm39) |
C144* |
probably null |
Het |
| P2rx2 |
G |
A |
5: 110,490,517 (GRCm39) |
T66I |
possibly damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,419,912 (GRCm39) |
E1197G |
probably damaging |
Het |
| Pira1 |
T |
A |
7: 3,742,396 (GRCm39) |
K44* |
probably null |
Het |
| Ppwd1 |
A |
T |
13: 104,356,943 (GRCm39) |
S191T |
probably benign |
Het |
| Rbm39 |
A |
T |
2: 156,004,785 (GRCm39) |
M184K |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,118,239 (GRCm39) |
V2935A |
possibly damaging |
Het |
| Robo4 |
T |
C |
9: 37,319,256 (GRCm39) |
W535R |
probably damaging |
Het |
| Rsf1 |
A |
G |
7: 97,311,079 (GRCm39) |
D603G |
possibly damaging |
Het |
| Sh3rf3 |
C |
G |
10: 58,967,012 (GRCm39) |
P785A |
probably benign |
Het |
| Slc22a26 |
T |
C |
19: 7,767,540 (GRCm39) |
T289A |
possibly damaging |
Het |
| Slc24a3 |
T |
C |
2: 145,360,767 (GRCm39) |
V120A |
possibly damaging |
Het |
| Sost |
C |
T |
11: 101,854,767 (GRCm39) |
G181R |
probably damaging |
Het |
| Sp2 |
A |
G |
11: 96,846,664 (GRCm39) |
F554L |
probably benign |
Het |
| Stim2 |
T |
C |
5: 54,267,939 (GRCm39) |
S87P |
probably damaging |
Het |
| Tecta |
T |
C |
9: 42,286,481 (GRCm39) |
D725G |
probably damaging |
Het |
| Trgc4 |
A |
G |
13: 19,528,932 (GRCm39) |
|
probably benign |
Het |
| Ube4b |
T |
C |
4: 149,427,449 (GRCm39) |
M900V |
probably damaging |
Het |
| Ugt2b38 |
A |
G |
5: 87,559,671 (GRCm39) |
M407T |
probably damaging |
Het |
| Vmn1r87 |
G |
T |
7: 12,865,792 (GRCm39) |
A165E |
possibly damaging |
Het |
| Zc3h6 |
A |
G |
2: 128,856,399 (GRCm39) |
H493R |
possibly damaging |
Het |
| Zfhx2 |
A |
T |
14: 55,312,232 (GRCm39) |
F154Y |
probably benign |
Het |
| Zfp729a |
A |
G |
13: 67,785,764 (GRCm39) |
|
probably null |
Het |
| Zfp976 |
A |
G |
7: 42,261,925 (GRCm39) |
|
probably null |
Het |
| Zhx1 |
C |
G |
15: 57,917,470 (GRCm39) |
G259R |
probably damaging |
Het |
| Znfx1 |
A |
T |
2: 166,888,859 (GRCm39) |
V783E |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCATCTGTCCTCAGGAAGC -3'
(R):5'- TCCCTCCTAAATGTGAACTGATTC -3'
Sequencing Primer
(F):5'- GGAAGCCTGTCATCTGCAACTATG -3'
(R):5'- GTGAACTGATTCTGACTATTCTCAGG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation