Incidental Mutation 'IGL03382:Lilrb4a'
ID |
420718 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lilrb4a
|
Ensembl Gene |
ENSMUSG00000112148 |
Gene Name |
leukocyte immunoglobulin-like receptor, subfamily B, member 4A |
Synonyms |
Gp49b, CD85K, ILT3, Lilrb4, HM18 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.114)
|
Stock # |
IGL03382
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
51367052-51372707 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 51367616 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 53
(W53R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151694
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078778]
[ENSMUST00000102894]
[ENSMUST00000217705]
[ENSMUST00000217706]
[ENSMUST00000219696]
[ENSMUST00000218123]
[ENSMUST00000218617]
[ENSMUST00000220226]
[ENSMUST00000220182]
[ENSMUST00000219960]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000078778
AA Change: W53R
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000077833 Gene: ENSMUSG00000112148 AA Change: W53R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
IG_like
|
28 |
118 |
4.91e1 |
SMART |
IG_like
|
129 |
219 |
1.84e1 |
SMART |
transmembrane domain
|
239 |
261 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102894
|
SMART Domains |
Protein: ENSMUSP00000099958 Gene: ENSMUSG00000112023
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
SCOP:d1nkr_2
|
24 |
118 |
3e-14 |
SMART |
Blast:IG_like
|
28 |
118 |
5e-49 |
BLAST |
Pfam:Ig_3
|
123 |
200 |
6.5e-8 |
PFAM |
Pfam:Ig_2
|
123 |
218 |
5.9e-8 |
PFAM |
Pfam:ig
|
127 |
211 |
8.4e-9 |
PFAM |
transmembrane domain
|
239 |
261 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105481
AA Change: W53R
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000101121 Gene: ENSMUSG00000062593 AA Change: W53R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
IG_like
|
28 |
118 |
4.91e1 |
SMART |
IG_like
|
129 |
219 |
1.84e1 |
SMART |
transmembrane domain
|
239 |
261 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105482
AA Change: W53R
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000101122 Gene: ENSMUSG00000062593 AA Change: W53R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
IG_like
|
28 |
118 |
4.91e1 |
SMART |
IG_like
|
129 |
219 |
1.84e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217705
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217706
AA Change: W53R
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219696
AA Change: W53R
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219388
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218123
AA Change: W53R
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218617
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218340
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218413
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219848
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219828
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219175
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218217
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219029
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218753
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220226
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220166
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220402
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220182
AA Change: W53R
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219960
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygotes for a targeted null mutation exhibit increased sensitivity to IgE-dependent passive cutaneous anaphylaxis and a reduced threshold for antigen challenge in active cutaneous anaphylaxis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aff1 |
A |
G |
5: 103,988,926 (GRCm39) |
D831G |
possibly damaging |
Het |
Amer2 |
A |
G |
14: 60,617,331 (GRCm39) |
K509E |
possibly damaging |
Het |
Ankrd6 |
T |
C |
4: 32,808,771 (GRCm39) |
K449E |
probably damaging |
Het |
Atp8b2 |
G |
A |
3: 89,855,828 (GRCm39) |
P459L |
probably benign |
Het |
Atr |
C |
T |
9: 95,802,875 (GRCm39) |
R1846* |
probably null |
Het |
Brd10 |
C |
T |
19: 29,694,676 (GRCm39) |
G1606R |
probably damaging |
Het |
Ccdc159 |
C |
A |
9: 21,842,992 (GRCm39) |
|
probably null |
Het |
Ccna1 |
A |
C |
3: 54,954,698 (GRCm39) |
Y338D |
probably damaging |
Het |
Cpq |
A |
T |
15: 33,213,089 (GRCm39) |
E36V |
probably damaging |
Het |
Cyp2c23 |
A |
G |
19: 44,003,371 (GRCm39) |
I268T |
probably damaging |
Het |
Dctn2 |
G |
T |
10: 127,114,057 (GRCm39) |
Q332H |
probably damaging |
Het |
Dnah17 |
T |
A |
11: 117,972,769 (GRCm39) |
I2055F |
probably damaging |
Het |
Dnmt3b |
A |
G |
2: 153,528,279 (GRCm39) |
H764R |
probably damaging |
Het |
Gphn |
T |
A |
12: 78,528,087 (GRCm39) |
I135K |
probably damaging |
Het |
Hnrnpul1 |
A |
G |
7: 25,450,409 (GRCm39) |
M1T |
probably null |
Het |
Htra4 |
T |
C |
8: 25,519,714 (GRCm39) |
D406G |
probably benign |
Het |
Klk10 |
G |
T |
7: 43,433,883 (GRCm39) |
|
probably benign |
Het |
Magel2 |
T |
C |
7: 62,028,461 (GRCm39) |
V455A |
probably benign |
Het |
Mrgprb5 |
T |
C |
7: 47,818,442 (GRCm39) |
T98A |
probably benign |
Het |
Mrps35 |
T |
A |
6: 146,951,373 (GRCm39) |
C76* |
probably null |
Het |
Myh7b |
C |
T |
2: 155,465,399 (GRCm39) |
R701C |
probably damaging |
Het |
Nbeal1 |
G |
A |
1: 60,300,745 (GRCm39) |
|
probably null |
Het |
Neb |
T |
A |
2: 52,215,720 (GRCm39) |
M196L |
probably benign |
Het |
Nmd3 |
A |
G |
3: 69,642,421 (GRCm39) |
K207R |
probably damaging |
Het |
Plxna4 |
C |
T |
6: 32,179,129 (GRCm39) |
R962Q |
probably benign |
Het |
Pom121 |
T |
C |
5: 135,421,261 (GRCm39) |
K230E |
unknown |
Het |
Psme4 |
A |
G |
11: 30,757,788 (GRCm39) |
D307G |
possibly damaging |
Het |
Rnf41 |
T |
G |
10: 128,274,149 (GRCm39) |
M267R |
possibly damaging |
Het |
Sis |
T |
C |
3: 72,836,052 (GRCm39) |
N846D |
probably benign |
Het |
Slc22a19 |
T |
A |
19: 7,659,227 (GRCm39) |
I463L |
probably benign |
Het |
Slc25a39 |
A |
T |
11: 102,297,030 (GRCm39) |
|
probably null |
Het |
Slc35b2 |
C |
T |
17: 45,877,571 (GRCm39) |
R233C |
probably damaging |
Het |
Slc4a4 |
T |
C |
5: 89,376,695 (GRCm39) |
L983P |
probably damaging |
Het |
Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
Tbc1d10a |
A |
G |
11: 4,159,984 (GRCm39) |
Y123C |
probably damaging |
Het |
Thbs4 |
A |
C |
13: 92,906,056 (GRCm39) |
I395S |
probably benign |
Het |
Triml2 |
A |
G |
8: 43,646,776 (GRCm39) |
T422A |
probably benign |
Het |
Ubn2 |
T |
C |
6: 38,417,382 (GRCm39) |
|
probably benign |
Het |
Vmn1r15 |
T |
A |
6: 57,235,555 (GRCm39) |
M141K |
probably benign |
Het |
Vmn2r80 |
A |
G |
10: 79,005,362 (GRCm39) |
E333G |
probably damaging |
Het |
Zfp169 |
T |
C |
13: 48,644,639 (GRCm39) |
|
probably benign |
Het |
Zfp942 |
G |
A |
17: 22,148,083 (GRCm39) |
P182L |
probably benign |
Het |
|
Other mutations in Lilrb4a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01399:Lilrb4a
|
APN |
10 |
51,370,161 (GRCm39) |
missense |
probably benign |
0.42 |
IGL02057:Lilrb4a
|
APN |
10 |
51,368,103 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL02386:Lilrb4a
|
APN |
10 |
51,367,322 (GRCm39) |
nonsense |
probably null |
|
IGL02999:Lilrb4a
|
APN |
10 |
51,370,239 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03292:Lilrb4a
|
APN |
10 |
51,370,942 (GRCm39) |
splice site |
probably null |
|
R0276:Lilrb4a
|
UTSW |
10 |
51,367,677 (GRCm39) |
missense |
probably benign |
0.01 |
R0470:Lilrb4a
|
UTSW |
10 |
51,370,923 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1313:Lilrb4a
|
UTSW |
10 |
51,356,832 (GRCm39) |
missense |
probably benign |
0.25 |
R1459:Lilrb4a
|
UTSW |
10 |
51,367,683 (GRCm39) |
missense |
probably benign |
0.44 |
R1675:Lilrb4a
|
UTSW |
10 |
51,372,281 (GRCm39) |
missense |
probably benign |
0.37 |
R1819:Lilrb4a
|
UTSW |
10 |
51,372,124 (GRCm39) |
missense |
probably damaging |
1.00 |
R1914:Lilrb4a
|
UTSW |
10 |
51,368,045 (GRCm39) |
missense |
probably benign |
0.04 |
R2265:Lilrb4a
|
UTSW |
10 |
51,367,633 (GRCm39) |
nonsense |
probably null |
|
R2338:Lilrb4a
|
UTSW |
10 |
51,367,796 (GRCm39) |
missense |
probably benign |
0.13 |
R2884:Lilrb4a
|
UTSW |
10 |
51,367,709 (GRCm39) |
missense |
probably benign |
0.01 |
R2886:Lilrb4a
|
UTSW |
10 |
51,367,709 (GRCm39) |
missense |
probably benign |
0.01 |
R4322:Lilrb4a
|
UTSW |
10 |
51,367,707 (GRCm39) |
missense |
probably damaging |
1.00 |
R4624:Lilrb4a
|
UTSW |
10 |
51,367,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R4923:Lilrb4a
|
UTSW |
10 |
51,368,139 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5001:Lilrb4a
|
UTSW |
10 |
51,367,516 (GRCm39) |
splice site |
probably null |
|
R5262:Lilrb4a
|
UTSW |
10 |
51,369,303 (GRCm39) |
critical splice donor site |
probably null |
|
R6224:Lilrb4a
|
UTSW |
10 |
51,367,745 (GRCm39) |
missense |
probably damaging |
1.00 |
R7447:Lilrb4a
|
UTSW |
10 |
51,367,149 (GRCm39) |
critical splice donor site |
probably null |
|
R7763:Lilrb4a
|
UTSW |
10 |
51,367,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2016-08-02 |