Incidental Mutation 'R0470:Lilrb4a'
ID |
41803 |
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 |
038670-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.114)
|
Stock # |
R0470 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
51367052-51372707 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 51370923 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 282
(N282K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151827
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078778]
[ENSMUST00000217705]
[ENSMUST00000217706]
[ENSMUST00000218123]
[ENSMUST00000219696]
[ENSMUST00000218617]
[ENSMUST00000220182]
[ENSMUST00000220226]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000078778
AA Change: N282K
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000077833 Gene: ENSMUSG00000112148 AA Change: N282K
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: N282K
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000101121 Gene: ENSMUSG00000062593 AA Change: N282K
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 |
|
SMART Domains |
Protein: ENSMUSP00000101122 Gene: ENSMUSG00000062593 AA Change: N243K
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 |
possibly damaging
Transcript: ENSMUST00000217705
AA Change: N187K
PolyPhen 2
Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217706
AA Change: N243K
PolyPhen 2
Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218123
AA Change: N282K
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219696
AA Change: N282K
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218217
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218340
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218413
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219029
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219175
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219828
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219848
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220166
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219388
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218617
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218753
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220182
AA Change: N243K
PolyPhen 2
Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220402
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220226
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 93.0%
|
Validation Efficiency |
98% (55/56) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
T |
G |
19: 8,986,331 (GRCm39) |
D2538E |
probably benign |
Het |
Akr1c13 |
T |
A |
13: 4,248,500 (GRCm39) |
L235H |
probably damaging |
Het |
Ank |
G |
A |
15: 27,571,721 (GRCm39) |
C331Y |
probably damaging |
Het |
Ankrd12 |
T |
C |
17: 66,293,129 (GRCm39) |
E768G |
probably benign |
Het |
Atm |
A |
T |
9: 53,372,266 (GRCm39) |
V2172E |
probably damaging |
Het |
Atp10b |
T |
A |
11: 43,093,866 (GRCm39) |
L470Q |
possibly damaging |
Het |
Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
Ccn4 |
A |
G |
15: 66,789,227 (GRCm39) |
I238V |
probably benign |
Het |
Cdadc1 |
A |
T |
14: 59,811,290 (GRCm39) |
|
probably benign |
Het |
Cfhr2 |
A |
T |
1: 139,749,517 (GRCm39) |
V155E |
probably damaging |
Het |
Chp1 |
C |
T |
2: 119,391,244 (GRCm39) |
R34C |
probably damaging |
Het |
Cilp2 |
A |
T |
8: 70,338,055 (GRCm39) |
V192E |
possibly damaging |
Het |
Cyth1 |
T |
C |
11: 118,023,074 (GRCm39) |
|
probably benign |
Het |
Dnah8 |
T |
A |
17: 30,927,514 (GRCm39) |
|
probably benign |
Het |
Gja3 |
T |
C |
14: 57,273,884 (GRCm39) |
T163A |
probably damaging |
Het |
Gsdmcl1 |
C |
T |
15: 63,722,280 (GRCm39) |
|
noncoding transcript |
Het |
Herc6 |
C |
T |
6: 57,596,437 (GRCm39) |
T459M |
probably damaging |
Het |
Hexb |
A |
G |
13: 97,314,507 (GRCm39) |
L412P |
probably damaging |
Het |
Il17ra |
T |
G |
6: 120,458,767 (GRCm39) |
D639E |
probably benign |
Het |
Kcnh5 |
G |
A |
12: 75,161,188 (GRCm39) |
T240I |
probably benign |
Het |
Lef1 |
T |
C |
3: 130,906,475 (GRCm39) |
|
probably benign |
Het |
Mbnl2 |
A |
T |
14: 120,642,062 (GRCm39) |
H342L |
probably damaging |
Het |
Minar2 |
C |
T |
18: 59,208,711 (GRCm39) |
R120C |
probably damaging |
Het |
Nipal3 |
A |
G |
4: 135,174,683 (GRCm39) |
V356A |
probably damaging |
Het |
Or2a54 |
C |
G |
6: 43,093,558 (GRCm39) |
A294G |
probably null |
Het |
Or51i1 |
A |
T |
7: 103,670,877 (GRCm39) |
I216N |
probably damaging |
Het |
Plekha6 |
G |
A |
1: 133,200,045 (GRCm39) |
R208Q |
probably benign |
Het |
Prkar1b |
A |
G |
5: 139,036,504 (GRCm39) |
I82T |
probably damaging |
Het |
Prrc1 |
C |
T |
18: 57,496,469 (GRCm39) |
T140M |
probably damaging |
Het |
Psg22 |
A |
C |
7: 18,453,589 (GRCm39) |
S95R |
probably damaging |
Het |
Ptk6 |
T |
C |
2: 180,837,732 (GRCm39) |
T396A |
probably benign |
Het |
Ptov1 |
A |
G |
7: 44,514,235 (GRCm39) |
S9P |
probably damaging |
Het |
Scin |
A |
C |
12: 40,123,291 (GRCm39) |
|
probably benign |
Het |
Sec13 |
T |
C |
6: 113,717,593 (GRCm39) |
|
probably benign |
Het |
Setd1a |
G |
A |
7: 127,384,229 (GRCm39) |
|
probably benign |
Het |
Sf3a2 |
G |
A |
10: 80,640,388 (GRCm39) |
|
probably benign |
Het |
Shmt1 |
T |
C |
11: 60,683,789 (GRCm39) |
Y341C |
possibly damaging |
Het |
Slc27a4 |
T |
A |
2: 29,694,197 (GRCm39) |
L7Q |
probably benign |
Het |
Slc41a2 |
T |
C |
10: 83,152,086 (GRCm39) |
M130V |
possibly damaging |
Het |
Sorcs3 |
T |
C |
19: 48,785,956 (GRCm39) |
|
probably null |
Het |
Tex24 |
C |
T |
8: 27,834,936 (GRCm39) |
R155* |
probably null |
Het |
Tgfb1 |
T |
A |
7: 25,387,355 (GRCm39) |
|
probably benign |
Het |
Tmc5 |
A |
G |
7: 118,239,154 (GRCm39) |
D349G |
possibly damaging |
Het |
Trappc13 |
C |
T |
13: 104,297,512 (GRCm39) |
V131I |
possibly damaging |
Het |
Trim66 |
A |
G |
7: 109,056,749 (GRCm39) |
|
probably benign |
Het |
Tspoap1 |
T |
C |
11: 87,666,988 (GRCm39) |
S1027P |
probably damaging |
Het |
Usp34 |
C |
T |
11: 23,386,001 (GRCm39) |
H2143Y |
possibly damaging |
Het |
Vmn1r179 |
A |
C |
7: 23,627,818 (GRCm39) |
Y3S |
probably benign |
Het |
Vmn1r231 |
G |
A |
17: 21,110,265 (GRCm39) |
Q217* |
probably null |
Het |
Vmn1r62 |
T |
A |
7: 5,679,066 (GRCm39) |
L249* |
probably null |
Het |
Vmn1r71 |
G |
C |
7: 10,482,019 (GRCm39) |
S223C |
possibly damaging |
Het |
Vmn2r109 |
T |
C |
17: 20,773,148 (GRCm39) |
Q491R |
probably benign |
Het |
Vwf |
G |
A |
6: 125,605,391 (GRCm39) |
V925M |
possibly damaging |
Het |
Zbtb6 |
A |
C |
2: 37,319,505 (GRCm39) |
L141W |
probably damaging |
Het |
Zranb1 |
G |
T |
7: 132,584,500 (GRCm39) |
L615F |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAGCTCGTGGAGGAAAAGAACCC -3'
(R):5'- AGGCATCTGATGCTAAGCAACAGAC -3'
Sequencing Primer
(F):5'- CCCTTACAATGGATCTGGAGATG -3'
(R):5'- TGATGCTAAGCAACAGACAGATAAC -3'
|
Posted On |
2013-05-23 |