Incidental Mutation 'R6119:Lair1'
ID |
485655 |
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 |
044429-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6119 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
4006401-4066203 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 4031895 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 71
(M71V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104241
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068865]
[ENSMUST00000086400]
[ENSMUST00000086401]
[ENSMUST00000108600]
[ENSMUST00000131126]
[ENSMUST00000205296]
[ENSMUST00000136616]
[ENSMUST00000149395]
|
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
AA Change: M71V
PolyPhen 2
Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000083588 Gene: ENSMUSG00000055541 AA Change: M71V
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
AA Change: M71V
PolyPhen 2
Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000083589 Gene: ENSMUSG00000055541 AA Change: M71V
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
AA Change: M71V
PolyPhen 2
Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000104241 Gene: ENSMUSG00000055541 AA Change: M71V
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 |
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: ENSMUST00000205296
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206445
|
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.2%
|
Validation Efficiency |
100% (53/53) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022A10Rik |
C |
T |
7: 27,265,138 (GRCm39) |
R97* |
probably null |
Het |
4930544D05Rik |
G |
A |
11: 70,507,317 (GRCm39) |
A121T |
probably damaging |
Het |
Abtb2 |
A |
T |
2: 103,532,655 (GRCm39) |
E484D |
probably benign |
Het |
Ankk1 |
A |
T |
9: 49,338,183 (GRCm39) |
W37R |
possibly damaging |
Het |
Arhgap11a |
C |
A |
2: 113,664,695 (GRCm39) |
M529I |
probably benign |
Het |
Btd |
G |
A |
14: 31,363,065 (GRCm39) |
|
probably benign |
Het |
Ddx47 |
T |
C |
6: 135,000,318 (GRCm39) |
I438T |
probably benign |
Het |
Dnhd1 |
A |
G |
7: 105,358,647 (GRCm39) |
T3379A |
probably benign |
Het |
Dusp3 |
A |
G |
11: 101,871,495 (GRCm39) |
|
probably benign |
Het |
Dync1h1 |
A |
G |
12: 110,594,440 (GRCm39) |
K1289E |
possibly damaging |
Het |
Egf |
A |
T |
3: 129,530,421 (GRCm39) |
I247N |
probably benign |
Het |
Erich1 |
A |
G |
8: 14,083,692 (GRCm39) |
L126P |
probably benign |
Het |
Fat3 |
T |
A |
9: 16,287,864 (GRCm39) |
H553L |
possibly damaging |
Het |
Gdpgp1 |
T |
C |
7: 79,888,740 (GRCm39) |
L257P |
probably damaging |
Het |
Gimap8 |
T |
C |
6: 48,635,888 (GRCm39) |
I551T |
possibly damaging |
Het |
Gnptab |
C |
A |
10: 88,267,257 (GRCm39) |
D449E |
probably damaging |
Het |
Grb10 |
T |
C |
11: 11,883,551 (GRCm39) |
D513G |
probably damaging |
Het |
Grin1 |
T |
G |
2: 25,195,170 (GRCm39) |
D283A |
probably damaging |
Het |
Gtf2i |
A |
T |
5: 134,315,911 (GRCm39) |
|
probably null |
Het |
Ip6k3 |
A |
G |
17: 27,367,599 (GRCm39) |
V199A |
possibly damaging |
Het |
Kif17 |
T |
A |
4: 138,015,643 (GRCm39) |
Y405* |
probably null |
Het |
Mamdc2 |
G |
A |
19: 23,330,679 (GRCm39) |
T376M |
probably damaging |
Het |
Msra |
G |
A |
14: 64,678,183 (GRCm39) |
R38C |
probably damaging |
Het |
Mthfd1 |
A |
T |
12: 76,350,447 (GRCm39) |
I462F |
probably damaging |
Het |
Nbr1 |
A |
G |
11: 101,457,938 (GRCm39) |
|
probably null |
Het |
Neb |
A |
G |
2: 52,110,943 (GRCm39) |
M181T |
probably benign |
Het |
Noxo1 |
A |
G |
17: 24,915,545 (GRCm39) |
|
probably benign |
Het |
Optn |
C |
A |
2: 5,026,134 (GRCm39) |
|
probably null |
Het |
Or10ag58 |
A |
T |
2: 87,265,733 (GRCm39) |
K301* |
probably null |
Het |
Or4c103 |
A |
G |
2: 88,513,935 (GRCm39) |
I47T |
probably damaging |
Het |
Or5k17 |
A |
T |
16: 58,746,895 (GRCm39) |
I13N |
possibly damaging |
Het |
Or6c215 |
G |
A |
10: 129,637,689 (GRCm39) |
A235V |
probably damaging |
Het |
Or6c215 |
C |
A |
10: 129,637,690 (GRCm39) |
A235S |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,727,033 (GRCm39) |
|
probably benign |
Het |
Ppp1r16b |
A |
G |
2: 158,593,047 (GRCm39) |
I209V |
probably benign |
Het |
Prss12 |
A |
G |
3: 123,283,258 (GRCm39) |
I517V |
possibly damaging |
Het |
Pwwp3a |
A |
G |
10: 80,064,865 (GRCm39) |
K32E |
probably benign |
Het |
Ripor2 |
C |
T |
13: 24,798,627 (GRCm39) |
|
probably benign |
Het |
Rmnd5b |
A |
G |
11: 51,516,536 (GRCm39) |
S274P |
probably benign |
Het |
Sftpa1 |
T |
A |
14: 40,854,509 (GRCm39) |
I32N |
probably damaging |
Het |
Slc2a12 |
T |
A |
10: 22,541,246 (GRCm39) |
I367N |
probably damaging |
Het |
Sorcs1 |
T |
C |
19: 50,276,532 (GRCm39) |
D340G |
probably damaging |
Het |
Synj1 |
T |
C |
16: 90,735,877 (GRCm39) |
K1359E |
probably benign |
Het |
Tasor2 |
C |
T |
13: 3,631,891 (GRCm39) |
R870H |
possibly damaging |
Het |
Tcf12 |
T |
A |
9: 71,775,547 (GRCm39) |
E421V |
probably damaging |
Het |
Tecta |
A |
T |
9: 42,284,371 (GRCm39) |
F905I |
probably benign |
Het |
Tmem106a |
T |
A |
11: 101,474,576 (GRCm39) |
C58* |
probably null |
Het |
Tmem131l |
A |
T |
3: 83,805,689 (GRCm39) |
F1585I |
probably damaging |
Het |
Tnks2 |
T |
C |
19: 36,856,752 (GRCm39) |
S208P |
possibly damaging |
Het |
Trim50 |
A |
G |
5: 135,382,274 (GRCm39) |
N42S |
probably benign |
Het |
Tsc22d2 |
T |
A |
3: 58,367,674 (GRCm39) |
|
probably benign |
Het |
Ttll3 |
T |
A |
6: 113,371,702 (GRCm39) |
L23H |
probably damaging |
Het |
Vmn1r10 |
A |
G |
6: 57,091,218 (GRCm39) |
Y270C |
probably benign |
Het |
Ypel3 |
T |
C |
7: 126,377,537 (GRCm39) |
V74A |
possibly damaging |
Het |
Zfp677 |
A |
G |
17: 21,618,070 (GRCm39) |
T376A |
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 |
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 |
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'- GTTGTAAGAACAAACCTGAGGTTG -3'
(R):5'- TGTTATGGCACTGTCCTCACTG -3'
Sequencing Primer
(F):5'- GGTTGGACCTGGGGCAG -3'
(R):5'- CACTGTCCTCACTGTGTATATTAAG -3'
|
Posted On |
2017-08-16 |