Incidental Mutation 'R9414:Lair1'
| ID |
711937 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9414 (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 4013819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 143
(I143V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083589
(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
AA Change: I33V
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000070712
Gene: ENSMUSG00000055541
AA Change: I33V
| 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: I143V
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000083588
Gene: ENSMUSG00000055541
AA Change: I143V
| 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: I143V
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000083589
Gene: ENSMUSG00000055541
AA Change: I143V
| 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 |
probably benign
Transcript: ENSMUST00000205296
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.7%
|
| Validation Efficiency |
98% (59/60) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
T |
11: 110,035,100 (GRCm39) |
I689K |
probably damaging |
Het |
| Agtpbp1 |
G |
T |
13: 59,609,902 (GRCm39) |
T1076K |
probably damaging |
Het |
| Ammecr1l |
A |
G |
18: 31,904,962 (GRCm39) |
T68A |
probably benign |
Het |
| Arvcf |
A |
G |
16: 18,215,580 (GRCm39) |
E264G |
probably damaging |
Het |
| Cacna1b |
C |
T |
2: 24,538,514 (GRCm39) |
D1542N |
probably damaging |
Het |
| Cacna2d2 |
A |
G |
9: 107,392,395 (GRCm39) |
T512A |
probably damaging |
Het |
| Crebbp |
A |
G |
16: 3,925,356 (GRCm39) |
C1213R |
probably damaging |
Het |
| Cybrd1 |
G |
T |
2: 70,948,567 (GRCm39) |
R35L |
probably damaging |
Het |
| Dcaf1 |
G |
A |
9: 106,757,158 (GRCm39) |
W1412* |
probably null |
Het |
| Eif4e |
T |
A |
3: 138,253,495 (GRCm39) |
D67E |
probably benign |
Het |
| Epb41 |
G |
A |
4: 131,702,162 (GRCm39) |
T491I |
probably damaging |
Het |
| Fez1 |
G |
A |
9: 36,779,247 (GRCm39) |
S308N |
probably benign |
Het |
| Fgfr3 |
A |
G |
5: 33,887,298 (GRCm39) |
S206G |
possibly damaging |
Het |
| Flcn |
A |
T |
11: 59,684,998 (GRCm39) |
N484K |
possibly damaging |
Het |
| Gdap2 |
T |
C |
3: 100,090,071 (GRCm39) |
|
probably null |
Het |
| Gfpt1 |
T |
A |
6: 87,062,265 (GRCm39) |
D541E |
probably benign |
Het |
| Gm5089 |
A |
G |
14: 122,673,604 (GRCm39) |
F39S |
unknown |
Het |
| Gm7694 |
C |
T |
1: 170,130,173 (GRCm39) |
G75D |
probably benign |
Het |
| Gpr15 |
A |
G |
16: 58,538,516 (GRCm39) |
L191S |
probably benign |
Het |
| Hmcn1 |
T |
G |
1: 150,545,187 (GRCm39) |
T2807P |
probably damaging |
Het |
| Iqgap2 |
T |
C |
13: 95,783,349 (GRCm39) |
T1276A |
|
Het |
| Itgae |
G |
T |
11: 73,002,629 (GRCm39) |
A129S |
possibly damaging |
Het |
| Kcns1 |
T |
C |
2: 164,010,378 (GRCm39) |
E127G |
probably damaging |
Het |
| Kmt2b |
T |
C |
7: 30,282,307 (GRCm39) |
E1118G |
probably damaging |
Het |
| Lcmt2 |
T |
C |
2: 120,970,621 (GRCm39) |
D154G |
possibly damaging |
Het |
| Ly9 |
T |
C |
1: 171,427,275 (GRCm39) |
T427A |
probably damaging |
Het |
| Man2c1 |
A |
G |
9: 57,044,030 (GRCm39) |
T281A |
possibly damaging |
Het |
| Map4k2 |
T |
C |
19: 6,394,515 (GRCm39) |
F332L |
probably benign |
Het |
| Meak7 |
A |
T |
8: 120,495,081 (GRCm39) |
S226T |
probably benign |
Het |
| Mmp10 |
A |
T |
9: 7,502,489 (GRCm39) |
D32V |
probably benign |
Het |
| Mroh2a |
C |
T |
1: 88,179,096 (GRCm39) |
R1110W |
probably benign |
Het |
| Naip2 |
T |
A |
13: 100,298,243 (GRCm39) |
S598C |
probably damaging |
Het |
| Npnt |
T |
C |
3: 132,612,116 (GRCm39) |
N300S |
probably benign |
Het |
| Or13a20 |
C |
A |
7: 140,232,263 (GRCm39) |
R124S |
probably damaging |
Het |
| Or5b95 |
T |
C |
19: 12,657,712 (GRCm39) |
V80A |
probably benign |
Het |
| Or5k15 |
G |
A |
16: 58,710,565 (GRCm39) |
T6I |
probably benign |
Het |
| Pacsin1 |
T |
C |
17: 27,926,985 (GRCm39) |
V387A |
probably damaging |
Het |
| Pald1 |
G |
T |
10: 61,178,932 (GRCm39) |
A489E |
probably benign |
Het |
| Pcnx1 |
G |
T |
12: 81,964,978 (GRCm39) |
G382W |
probably damaging |
Het |
| Pde6b |
T |
A |
5: 108,567,592 (GRCm39) |
M294K |
possibly damaging |
Het |
| Phf20 |
T |
C |
2: 156,136,167 (GRCm39) |
V662A |
probably benign |
Het |
| Plcg1 |
T |
C |
2: 160,603,276 (GRCm39) |
I1149T |
possibly damaging |
Het |
| Prdx2 |
T |
C |
8: 85,697,196 (GRCm39) |
S79P |
probably damaging |
Het |
| Rab19 |
T |
C |
6: 39,360,855 (GRCm39) |
M1T |
probably null |
Het |
| Retn |
T |
G |
8: 3,706,908 (GRCm39) |
F44C |
probably damaging |
Het |
| Rp1 |
A |
T |
1: 4,313,841 (GRCm39) |
W507R |
unknown |
Het |
| Rsf1 |
A |
C |
7: 97,313,765 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
C |
T |
2: 112,501,011 (GRCm39) |
E3561K |
possibly damaging |
Het |
| Scaf1 |
T |
A |
7: 44,652,716 (GRCm39) |
Y1220F |
unknown |
Het |
| Sowahc |
A |
G |
10: 59,058,491 (GRCm39) |
K209R |
probably benign |
Het |
| Supt20 |
T |
A |
3: 54,610,504 (GRCm39) |
I103N |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,545,367 (GRCm39) |
E2498G |
probably benign |
Het |
| Tet1 |
T |
C |
10: 62,674,935 (GRCm39) |
N1047S |
probably benign |
Het |
| Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
| Tub |
T |
A |
7: 108,626,265 (GRCm39) |
I267N |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,223,507 (GRCm39) |
E594G |
probably benign |
Het |
| Vmn2r104 |
T |
A |
17: 20,250,250 (GRCm39) |
I674F |
probably damaging |
Het |
| Zbed6 |
T |
C |
1: 133,585,015 (GRCm39) |
D774G |
probably damaging |
Het |
| Zcchc4 |
T |
C |
5: 52,953,964 (GRCm39) |
S215P |
probably benign |
Het |
| Zfc3h1 |
T |
G |
10: 115,249,916 (GRCm39) |
S1177A |
possibly damaging |
Het |
| Zfp646 |
G |
A |
7: 127,481,050 (GRCm39) |
A1076T |
probably damaging |
Het |
| Zfp735 |
T |
A |
11: 73,602,023 (GRCm39) |
Y322* |
probably null |
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 |
|
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 |
|
R9787:Lair1
|
UTSW |
7 |
4,013,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGGGAGTCCTGAGAATAGTCAG -3'
(R):5'- TCAGGCCAACACTTATGACCAG -3'
Sequencing Primer
(F):5'- GTCAGAATCAGTTCACATTTAGGAGG -3'
(R):5'- ACTTATGACCAGTGACACAAGG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation