Incidental Mutation 'IGL02999:Lilrb4a'
| ID |
407224 |
| 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 # |
IGL02999
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
51367052-51372707 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 51370239 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 259
(L259P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151486
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078778]
[ENSMUST00000217705]
[ENSMUST00000217706]
[ENSMUST00000218123]
[ENSMUST00000219696]
[ENSMUST00000220182]
[ENSMUST00000218617]
[ENSMUST00000220226]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078778
AA Change: L259P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000077833
Gene: ENSMUSG00000112148
AA Change: L259P
| 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 damaging
Transcript: ENSMUST00000105481
AA Change: L259P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101121
Gene: ENSMUSG00000062593
AA Change: L259P
| 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 damaging
Transcript: ENSMUST00000217705
AA Change: L164P
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217706
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218123
AA Change: L259P
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218217
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218340
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219696
AA Change: L259P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219029
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220182
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218617
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218413
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219388
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220166
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219175
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220402
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219828
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219848
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220226
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218753
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
A |
10: 78,903,424 (GRCm39) |
R297S |
possibly damaging |
Het |
| Abca13 |
G |
A |
11: 9,531,757 (GRCm39) |
|
probably benign |
Het |
| Acot12 |
T |
A |
13: 91,908,100 (GRCm39) |
V94D |
probably damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,726,973 (GRCm39) |
A460T |
probably benign |
Het |
| Atp8a2 |
C |
A |
14: 60,162,571 (GRCm39) |
E717* |
probably null |
Het |
| Brinp3 |
A |
T |
1: 146,577,587 (GRCm39) |
|
probably null |
Het |
| Camk1d |
C |
A |
2: 5,359,516 (GRCm39) |
V177L |
probably benign |
Het |
| Chst11 |
A |
G |
10: 83,027,538 (GRCm39) |
I322V |
possibly damaging |
Het |
| Cobl |
T |
C |
11: 12,293,869 (GRCm39) |
T296A |
possibly damaging |
Het |
| Dcc |
A |
C |
18: 71,511,749 (GRCm39) |
F869V |
possibly damaging |
Het |
| Dock2 |
G |
T |
11: 34,583,086 (GRCm39) |
T609K |
probably damaging |
Het |
| Ercc5 |
A |
G |
1: 44,206,814 (GRCm39) |
T576A |
probably benign |
Het |
| Faf1 |
A |
G |
4: 109,719,090 (GRCm39) |
I399V |
probably benign |
Het |
| Fndc3b |
T |
G |
3: 27,592,388 (GRCm39) |
E170A |
probably damaging |
Het |
| Ggt7 |
C |
A |
2: 155,344,633 (GRCm39) |
V237L |
probably benign |
Het |
| Hectd1 |
G |
T |
12: 51,874,205 (GRCm39) |
Q24K |
possibly damaging |
Het |
| Krt19 |
T |
C |
11: 100,032,235 (GRCm39) |
|
probably benign |
Het |
| Limd1 |
T |
C |
9: 123,345,864 (GRCm39) |
Y548H |
probably damaging |
Het |
| Lingo2 |
A |
G |
4: 35,708,744 (GRCm39) |
I412T |
probably damaging |
Het |
| Lrrc34 |
T |
A |
3: 30,688,782 (GRCm39) |
Q173L |
probably damaging |
Het |
| Lrrn3 |
A |
T |
12: 41,502,750 (GRCm39) |
N522K |
probably benign |
Het |
| Mgat4e |
A |
C |
1: 134,468,928 (GRCm39) |
L372R |
probably damaging |
Het |
| Nedd4l |
A |
G |
18: 65,331,778 (GRCm39) |
D638G |
probably damaging |
Het |
| Olfm3 |
T |
C |
3: 114,916,397 (GRCm39) |
M423T |
probably damaging |
Het |
| Or8g54 |
T |
C |
9: 39,706,752 (GRCm39) |
L27P |
probably damaging |
Het |
| Pcsk7 |
T |
A |
9: 45,838,897 (GRCm39) |
I603N |
possibly damaging |
Het |
| Ptpn2 |
A |
G |
18: 67,814,580 (GRCm39) |
V143A |
probably damaging |
Het |
| Rabgap1 |
C |
A |
2: 37,373,838 (GRCm39) |
D283E |
possibly damaging |
Het |
| Reln |
G |
A |
5: 22,200,363 (GRCm39) |
S1379F |
probably damaging |
Het |
| Rpap2 |
T |
A |
5: 107,749,697 (GRCm39) |
F74I |
possibly damaging |
Het |
| Sel1l2 |
T |
C |
2: 140,072,724 (GRCm39) |
E637G |
probably damaging |
Het |
| Slc28a2b |
T |
C |
2: 122,344,995 (GRCm39) |
|
probably benign |
Het |
| St18 |
T |
A |
1: 6,887,829 (GRCm39) |
V466E |
probably benign |
Het |
| Stac |
C |
A |
9: 111,433,198 (GRCm39) |
G207C |
probably damaging |
Het |
| Stra6 |
T |
A |
9: 58,042,396 (GRCm39) |
N8K |
probably benign |
Het |
| Sytl4 |
C |
T |
X: 132,838,727 (GRCm39) |
R649Q |
probably benign |
Het |
| Tas1r3 |
A |
G |
4: 155,946,816 (GRCm39) |
V263A |
probably damaging |
Het |
| Tprg1 |
T |
C |
16: 25,136,218 (GRCm39) |
Y70H |
probably damaging |
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 |
|
|
IGL03292:Lilrb4a
|
APN |
10 |
51,370,942 (GRCm39) |
splice site |
probably null |
|
|
IGL03382:Lilrb4a
|
APN |
10 |
51,367,616 (GRCm39) |
missense |
probably benign |
0.10 |
|
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 |
Incidental Mutation