Incidental Mutation 'R2884:Lilrb4a'
| ID |
260970 |
| 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 |
040472-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R2884 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
51367052-51372707 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 51367709 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 84
(N84Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151827
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078778]
[ENSMUST00000102894]
[ENSMUST00000217705]
[ENSMUST00000217706]
[ENSMUST00000218123]
[ENSMUST00000219696]
[ENSMUST00000220182]
[ENSMUST00000218617]
[ENSMUST00000219960]
[ENSMUST00000220226]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078778
AA Change: N84Y
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000077833
Gene: ENSMUSG00000112148
AA Change: N84Y
| 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: N84Y
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000101121
Gene: ENSMUSG00000062593
AA Change: N84Y
| 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: N84Y
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000101122
Gene: ENSMUSG00000062593
AA Change: N84Y
| 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: N84Y
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218123
AA Change: N84Y
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219696
AA Change: N84Y
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220182
AA Change: N84Y
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218340
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218413
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219175
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219388
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219828
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219848
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220166
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218617
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219960
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218753
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218217
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219029
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220402
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220226
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
G |
T |
8: 120,872,250 (GRCm39) |
E59D |
possibly damaging |
Het |
| Arhgap27 |
T |
C |
11: 103,251,669 (GRCm39) |
|
probably null |
Het |
| BC061237 |
A |
G |
14: 44,738,627 (GRCm39) |
R9G |
possibly damaging |
Het |
| Brsk1 |
A |
G |
7: 4,694,122 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cspg4b |
G |
T |
13: 113,505,725 (GRCm39) |
A2285S |
probably benign |
Het |
| Cspg4b |
A |
T |
13: 113,457,216 (GRCm39) |
Q1087H |
probably damaging |
Het |
| Dnajb5 |
A |
T |
4: 42,957,355 (GRCm39) |
D284V |
probably damaging |
Het |
| Dnmt3a |
A |
G |
12: 3,946,132 (GRCm39) |
D329G |
probably damaging |
Het |
| Ecd |
C |
T |
14: 20,370,841 (GRCm39) |
G626D |
probably damaging |
Het |
| Exoc3l4 |
A |
G |
12: 111,394,956 (GRCm39) |
D551G |
possibly damaging |
Het |
| Fam227b |
A |
T |
2: 125,942,846 (GRCm39) |
I317N |
probably benign |
Het |
| Fam3c |
G |
A |
6: 22,329,581 (GRCm39) |
R49C |
probably damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,364,698 (GRCm39) |
Y566C |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,848,127 (GRCm39) |
N1779S |
probably benign |
Het |
| Gm19965 |
T |
A |
1: 116,749,313 (GRCm39) |
N331K |
probably benign |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| H2ac8 |
A |
G |
13: 23,755,047 (GRCm39) |
I79T |
probably damaging |
Het |
| H2-DMa |
A |
G |
17: 34,356,121 (GRCm39) |
N41S |
probably damaging |
Het |
| Habp4 |
A |
T |
13: 64,330,080 (GRCm39) |
R328S |
probably benign |
Het |
| Hexb |
C |
T |
13: 97,320,208 (GRCm39) |
G272D |
probably damaging |
Het |
| Mtnr1a |
A |
G |
8: 45,540,305 (GRCm39) |
T89A |
probably benign |
Het |
| Myh13 |
T |
A |
11: 67,228,469 (GRCm39) |
N336K |
probably benign |
Het |
| Naca |
T |
C |
10: 127,877,547 (GRCm39) |
|
probably benign |
Het |
| Naif1 |
C |
T |
2: 32,344,887 (GRCm39) |
P197L |
probably benign |
Het |
| Nprl3 |
A |
G |
11: 32,198,163 (GRCm39) |
L179P |
probably damaging |
Het |
| Nup93 |
A |
G |
8: 95,030,266 (GRCm39) |
Y375C |
probably damaging |
Het |
| Or52b4 |
A |
G |
7: 102,184,439 (GRCm39) |
I162V |
probably benign |
Het |
| Pcdha12 |
G |
A |
18: 37,153,757 (GRCm39) |
D159N |
probably damaging |
Het |
| Plekhs1 |
G |
A |
19: 56,459,258 (GRCm39) |
G39R |
probably benign |
Het |
| Ppp4r3a |
T |
C |
12: 101,034,936 (GRCm39) |
E53G |
probably damaging |
Het |
| Prss48 |
A |
T |
3: 85,904,562 (GRCm39) |
M212K |
probably benign |
Het |
| Pth |
A |
T |
7: 112,985,235 (GRCm39) |
L46Q |
probably damaging |
Het |
| Rin2 |
A |
T |
2: 145,702,911 (GRCm39) |
T536S |
probably benign |
Het |
| Setx |
T |
G |
2: 29,038,637 (GRCm39) |
C1707W |
probably damaging |
Het |
| Stau2 |
A |
T |
1: 16,301,290 (GRCm39) |
F519Y |
possibly damaging |
Het |
| Syne2 |
T |
G |
12: 76,010,533 (GRCm39) |
V2481G |
probably benign |
Het |
| Tpte |
C |
T |
8: 22,825,439 (GRCm39) |
Q331* |
probably null |
Het |
| Ttn |
G |
T |
2: 76,730,596 (GRCm39) |
|
probably benign |
Het |
| Utrn |
A |
T |
10: 12,615,105 (GRCm39) |
|
probably null |
Het |
| Vmn2r82 |
A |
G |
10: 79,232,082 (GRCm39) |
I694V |
probably benign |
Het |
| Vmn2r88 |
G |
A |
14: 51,651,391 (GRCm39) |
C235Y |
probably damaging |
Het |
| Xrn2 |
T |
A |
2: 146,889,576 (GRCm39) |
V653E |
probably damaging |
Het |
| Znrf3 |
A |
T |
11: 5,239,693 (GRCm39) |
D58E |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGAAGATGTTCAGGGCCTTTG -3'
(R):5'- TGGACTCTGAGAGAAGAGCTC -3'
Sequencing Primer
(F):5'- GGGCCTTTGATTTCTTCACAGGAC -3'
(R):5'- CCTGGAAAATAGATCTCCTTCTGAGG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation