Incidental Mutation 'R5262:Lilrb4a'
| ID |
401511 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lilrb4a
|
| Ensembl Gene |
ENSMUSG00000112148 |
| Gene Name |
leukocyte immunoglobulin-like receptor, subfamily B, member 4A |
| Synonyms |
Gp49b, CD85K, ILT3, Lilrb4, HM18 |
| MMRRC Submission |
042857-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R5262 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
51367052-51372707 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 51369303 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151303
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078778]
[ENSMUST00000078778]
[ENSMUST00000078778]
[ENSMUST00000078778]
[ENSMUST00000217705]
[ENSMUST00000217705]
[ENSMUST00000217706]
[ENSMUST00000217706]
[ENSMUST00000218123]
[ENSMUST00000219696]
[ENSMUST00000219696]
[ENSMUST00000220182]
[ENSMUST00000220182]
[ENSMUST00000218617]
[ENSMUST00000220226]
[ENSMUST00000220226]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000078778
|
| SMART Domains |
Protein: ENSMUSP00000077833
Gene: ENSMUSG00000112148
| 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 null
Transcript: ENSMUST00000078778
|
| SMART Domains |
Protein: ENSMUSP00000077833
Gene: ENSMUSG00000112148
| 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 null
Transcript: ENSMUST00000078778
|
| SMART Domains |
Protein: ENSMUSP00000077833
Gene: ENSMUSG00000112148
| 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 null
Transcript: ENSMUST00000078778
|
| SMART Domains |
Protein: ENSMUSP00000077833
Gene: ENSMUSG00000112148
| 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 null
Transcript: ENSMUST00000105481
|
| SMART Domains |
Protein: ENSMUSP00000101121
Gene: ENSMUSG00000062593
| 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 null
Transcript: ENSMUST00000105481
|
| SMART Domains |
Protein: ENSMUSP00000101121
Gene: ENSMUSG00000062593
| 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 null
Transcript: ENSMUST00000105482
|
| SMART Domains |
Protein: ENSMUSP00000101122
Gene: ENSMUSG00000062593
| 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 null
Transcript: ENSMUST00000105482
|
| SMART Domains |
Protein: ENSMUSP00000101122
Gene: ENSMUSG00000062593
| 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 null
Transcript: ENSMUST00000217705
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000217705
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000217706
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000217706
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218123
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218217
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000219696
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000219696
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000220182
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000220182
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218617
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000220226
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000220226
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219848
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218413
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219828
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218340
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219388
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220166
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219029
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220402
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219175
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218753
|
| Meta Mutation Damage Score |
0.8602 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.5%
|
| Validation Efficiency |
98% (61/62) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago4 |
T |
A |
4: 126,390,557 (GRCm39) |
D821V |
possibly damaging |
Het |
| Ankdd1b |
C |
A |
13: 96,557,281 (GRCm39) |
R384L |
probably damaging |
Het |
| Ces1e |
A |
G |
8: 93,950,586 (GRCm39) |
F65S |
probably damaging |
Het |
| Cfap53 |
A |
C |
18: 74,462,530 (GRCm39) |
S425R |
probably benign |
Het |
| Corin |
A |
G |
5: 72,462,298 (GRCm39) |
V837A |
probably damaging |
Het |
| Cyp2d34 |
A |
T |
15: 82,502,572 (GRCm39) |
V188E |
probably damaging |
Het |
| Defb26 |
A |
T |
2: 152,349,878 (GRCm39) |
M134K |
unknown |
Het |
| Dnah10 |
A |
C |
5: 124,862,220 (GRCm39) |
K2158N |
probably damaging |
Het |
| Dnah9 |
C |
T |
11: 66,003,159 (GRCm39) |
V882M |
probably benign |
Het |
| Dpyd |
C |
A |
3: 118,591,071 (GRCm39) |
Y186* |
probably null |
Het |
| Elovl1 |
G |
A |
4: 118,288,124 (GRCm39) |
|
probably benign |
Het |
| Fars2 |
T |
A |
13: 36,526,001 (GRCm39) |
I329N |
probably damaging |
Het |
| Gstm1 |
T |
A |
3: 107,923,679 (GRCm39) |
M109L |
probably benign |
Het |
| Gtf2e1 |
T |
C |
16: 37,356,293 (GRCm39) |
T80A |
probably damaging |
Het |
| Gtf2h2 |
A |
G |
13: 100,618,356 (GRCm39) |
|
probably benign |
Het |
| Hrh4 |
G |
T |
18: 13,148,870 (GRCm39) |
L77F |
probably damaging |
Het |
| Ifi47 |
A |
G |
11: 48,986,559 (GRCm39) |
T109A |
probably benign |
Het |
| Igsf5 |
G |
T |
16: 96,192,237 (GRCm39) |
E179* |
probably null |
Het |
| Ints8 |
A |
G |
4: 11,211,916 (GRCm39) |
I885T |
probably damaging |
Het |
| Iqgap1 |
T |
G |
7: 80,376,490 (GRCm39) |
I1341L |
probably benign |
Het |
| Kmt2b |
A |
G |
7: 30,269,219 (GRCm39) |
L2567P |
probably damaging |
Het |
| Maip1 |
G |
A |
1: 57,446,131 (GRCm39) |
R67H |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,237,375 (GRCm39) |
I254F |
possibly damaging |
Het |
| Nfkb1 |
A |
T |
3: 135,318,173 (GRCm39) |
|
probably null |
Het |
| Nlrp4a |
T |
C |
7: 26,159,236 (GRCm39) |
|
probably null |
Het |
| Nrap |
A |
T |
19: 56,308,655 (GRCm39) |
I1477N |
possibly damaging |
Het |
| Pdgfa |
A |
G |
5: 138,979,049 (GRCm39) |
S52P |
probably benign |
Het |
| Pou1f1 |
G |
T |
16: 65,328,868 (GRCm39) |
E196* |
probably null |
Het |
| Ppp2r5e |
G |
A |
12: 75,640,045 (GRCm39) |
R19W |
probably damaging |
Het |
| Ptn |
T |
A |
6: 36,721,419 (GRCm39) |
Q7L |
probably benign |
Het |
| Rbp3 |
G |
T |
14: 33,676,807 (GRCm39) |
A252S |
probably damaging |
Het |
| Rcor2 |
G |
T |
19: 7,251,426 (GRCm39) |
V313L |
probably damaging |
Het |
| Rtp3 |
A |
T |
9: 110,815,195 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,787,323 (GRCm39) |
T1017A |
probably damaging |
Het |
| Scgb2b11 |
T |
C |
7: 31,908,776 (GRCm39) |
N108S |
probably benign |
Het |
| Sgo2b |
C |
A |
8: 64,396,171 (GRCm39) |
L28F |
probably damaging |
Het |
| Shroom3 |
A |
G |
5: 93,112,432 (GRCm39) |
E1850G |
probably damaging |
Het |
| Slc16a14 |
A |
G |
1: 84,890,612 (GRCm39) |
L231P |
probably benign |
Het |
| Slfn5 |
A |
G |
11: 82,847,496 (GRCm39) |
E127G |
possibly damaging |
Het |
| Snx16 |
C |
T |
3: 10,502,892 (GRCm39) |
M118I |
probably damaging |
Het |
| Snx21 |
T |
C |
2: 164,633,741 (GRCm39) |
F176L |
probably damaging |
Het |
| Tap2 |
A |
G |
17: 34,432,990 (GRCm39) |
N424S |
probably benign |
Het |
| Tcf7l1 |
T |
C |
6: 72,613,449 (GRCm39) |
|
probably benign |
Het |
| Trappc8 |
C |
T |
18: 20,951,247 (GRCm39) |
V1400I |
probably benign |
Het |
| Trim58 |
T |
C |
11: 58,542,494 (GRCm39) |
Y485H |
possibly damaging |
Het |
| U2af1l4 |
C |
T |
7: 30,263,638 (GRCm39) |
T65I |
probably benign |
Het |
| Ufl1 |
G |
T |
4: 25,251,294 (GRCm39) |
|
probably benign |
Het |
| Usp8 |
A |
G |
2: 126,593,031 (GRCm39) |
N762S |
probably damaging |
Het |
| Virma |
A |
T |
4: 11,539,926 (GRCm39) |
D1465V |
probably benign |
Het |
| Vmn1r48 |
A |
T |
6: 90,013,016 (GRCm39) |
S270T |
probably benign |
Het |
| Vrk2 |
T |
A |
11: 26,541,697 (GRCm39) |
Y9F |
possibly damaging |
Het |
| Wwp1 |
A |
G |
4: 19,631,057 (GRCm39) |
F659L |
probably damaging |
Het |
| Zbtb24 |
C |
T |
10: 41,340,556 (GRCm39) |
Q529* |
probably null |
Het |
| Zranb1 |
CTGATGATGATG |
CTGATGATGATGATG |
7: 132,584,556 (GRCm39) |
|
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTCACAAAACCTTGTCTGC -3'
(R):5'- TGTTCAGGGAGATGGAGCCTAG -3'
Sequencing Primer
(F):5'- GTCTGCAACAGGGTCATATCC -3'
(R):5'- GCCATCAGAACATCTTGTAAAGG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation