Incidental Mutation 'IGL01399:Lilrb4a'
| ID |
79580 |
| 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 # |
IGL01399
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
51367052-51372707 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 51370161 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 233
(L233P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151486
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078778]
[ENSMUST00000217705]
[ENSMUST00000217706]
[ENSMUST00000218123]
[ENSMUST00000219696]
[ENSMUST00000218617]
[ENSMUST00000220226]
[ENSMUST00000220182]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078778
AA Change: L233P
PolyPhen 2
Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000077833
Gene: ENSMUSG00000112148
AA Change: L233P
| 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: ENSMUST00000105481
AA Change: L233P
PolyPhen 2
Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000101121
Gene: ENSMUSG00000062593
AA Change: L233P
| 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: ENSMUST00000217705
AA Change: L138P
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217706
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218123
AA Change: L233P
PolyPhen 2
Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218217
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218340
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218413
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219828
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219388
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219696
AA Change: L233P
PolyPhen 2
Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219175
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220166
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220402
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219029
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218617
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220226
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220182
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219848
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol11b |
G |
A |
15: 77,522,219 (GRCm39) |
T26M |
probably damaging |
Het |
| Asic4 |
T |
A |
1: 75,445,790 (GRCm39) |
N206K |
possibly damaging |
Het |
| Bsn |
A |
G |
9: 107,984,386 (GRCm39) |
Y3223H |
unknown |
Het |
| Btaf1 |
C |
T |
19: 36,977,570 (GRCm39) |
R1463* |
probably null |
Het |
| Ccdc146 |
A |
G |
5: 21,499,611 (GRCm39) |
I857T |
possibly damaging |
Het |
| Ccnf |
G |
A |
17: 24,443,986 (GRCm39) |
S594L |
probably damaging |
Het |
| Chd5 |
T |
C |
4: 152,441,144 (GRCm39) |
W195R |
probably damaging |
Het |
| Cntn1 |
A |
G |
15: 92,203,025 (GRCm39) |
Y769C |
probably damaging |
Het |
| Cwc22 |
T |
C |
2: 77,747,408 (GRCm39) |
E435G |
probably benign |
Het |
| Dct |
A |
G |
14: 118,273,890 (GRCm39) |
F339S |
probably damaging |
Het |
| Ddx54 |
G |
T |
5: 120,761,968 (GRCm39) |
E554* |
probably null |
Het |
| Dock3 |
G |
T |
9: 106,870,670 (GRCm39) |
S581R |
probably benign |
Het |
| Dst |
A |
G |
1: 34,156,598 (GRCm39) |
H176R |
probably benign |
Het |
| Emc8 |
A |
G |
8: 121,385,745 (GRCm39) |
M123T |
probably damaging |
Het |
| Evc |
T |
A |
5: 37,490,357 (GRCm39) |
D55V |
probably damaging |
Het |
| Gm5424 |
A |
G |
10: 61,907,272 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr149 |
A |
T |
3: 62,511,852 (GRCm39) |
L49Q |
probably damaging |
Het |
| Hcfc1 |
C |
T |
X: 72,993,515 (GRCm39) |
V1217I |
possibly damaging |
Het |
| Hoxa4 |
G |
T |
6: 52,167,393 (GRCm39) |
Q263K |
probably damaging |
Het |
| Ift172 |
T |
C |
5: 31,423,592 (GRCm39) |
E790G |
probably benign |
Het |
| Ipp |
A |
G |
4: 116,372,384 (GRCm39) |
N138D |
probably damaging |
Het |
| Isg20 |
A |
T |
7: 78,569,836 (GRCm39) |
T158S |
possibly damaging |
Het |
| Klf17 |
A |
G |
4: 117,616,356 (GRCm39) |
F325S |
probably damaging |
Het |
| Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
| Myh9 |
A |
T |
15: 77,651,470 (GRCm39) |
L1544Q |
probably damaging |
Het |
| Nexmif |
T |
A |
X: 103,130,786 (GRCm39) |
D377V |
probably damaging |
Het |
| Nobox |
T |
C |
6: 43,280,972 (GRCm39) |
T501A |
probably benign |
Het |
| Noc3l |
T |
C |
19: 38,804,099 (GRCm39) |
D93G |
possibly damaging |
Het |
| Nrcam |
G |
T |
12: 44,622,667 (GRCm39) |
A938S |
probably benign |
Het |
| Nup205 |
T |
C |
6: 35,196,624 (GRCm39) |
I1120T |
possibly damaging |
Het |
| Or5b96 |
A |
T |
19: 12,867,803 (GRCm39) |
M46K |
probably benign |
Het |
| Or5h18 |
C |
T |
16: 58,847,629 (GRCm39) |
V214I |
probably benign |
Het |
| Ptpn3 |
T |
C |
4: 57,225,775 (GRCm39) |
D480G |
probably benign |
Het |
| Selenof |
C |
T |
3: 144,302,669 (GRCm39) |
T148I |
probably damaging |
Het |
| Sgce |
C |
A |
6: 4,746,997 (GRCm39) |
G31V |
probably damaging |
Het |
| Slc35e1 |
C |
A |
8: 73,238,534 (GRCm39) |
A325S |
probably damaging |
Het |
| Slc4a4 |
A |
G |
5: 89,376,794 (GRCm39) |
D1016G |
probably damaging |
Het |
| Synj2 |
T |
G |
17: 6,060,046 (GRCm39) |
C149W |
probably damaging |
Het |
| Tecpr1 |
A |
G |
5: 144,145,411 (GRCm39) |
|
probably null |
Het |
| Utp20 |
A |
G |
10: 88,594,164 (GRCm39) |
|
probably null |
Het |
| Vmn2r63 |
T |
A |
7: 42,553,543 (GRCm39) |
K571M |
probably damaging |
Het |
| Wdr53 |
A |
G |
16: 32,070,718 (GRCm39) |
D21G |
possibly damaging |
Het |
| Zbtb3 |
T |
C |
19: 8,780,819 (GRCm39) |
L144S |
probably damaging |
Het |
| Zfp185 |
T |
A |
X: 72,043,654 (GRCm39) |
S154T |
probably damaging |
Het |
|
| Other mutations in Lilrb4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2013-11-05 |
Incidental Mutation