Incidental Mutation 'R1675:Lilrb4a'
ID |
188006 |
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 |
039711-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.114)
|
Stock # |
R1675 (G1)
|
Quality Score |
212 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
51367052-51372707 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 51372281 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 222
(T222A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151225
(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: T317A
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000077833 Gene: ENSMUSG00000112148 AA Change: T317A
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: T317A
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000101121 Gene: ENSMUSG00000062593 AA Change: T317A
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: T278A
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
AA Change: T222A
PolyPhen 2
Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217706
AA Change: T278A
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218123
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219696
AA Change: T317A
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218217
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218340
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218413
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218753
|
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 |
probably benign
Transcript: ENSMUST00000218617
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219388
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220182
AA Change: T278A
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220402
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220226
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.5%
- 20x: 93.1%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
C |
T |
1: 71,302,570 (GRCm39) |
|
probably null |
Het |
Adam6b |
T |
C |
12: 113,454,664 (GRCm39) |
Y494H |
probably benign |
Het |
Adamtsl2 |
GC |
G |
2: 26,972,497 (GRCm39) |
|
probably null |
Het |
Anapc2 |
G |
A |
2: 25,162,651 (GRCm39) |
V42M |
possibly damaging |
Het |
Aph1a |
T |
A |
3: 95,802,211 (GRCm39) |
D64E |
possibly damaging |
Het |
Arhgef11 |
C |
T |
3: 87,638,518 (GRCm39) |
A1111V |
possibly damaging |
Het |
Atoh1 |
T |
C |
6: 64,707,141 (GRCm39) |
S279P |
probably benign |
Het |
Atp10b |
A |
G |
11: 43,116,475 (GRCm39) |
T941A |
probably damaging |
Het |
Barhl1 |
C |
T |
2: 28,805,423 (GRCm39) |
R90Q |
possibly damaging |
Het |
Calr3 |
T |
C |
8: 73,185,302 (GRCm39) |
D91G |
probably damaging |
Het |
Ccdc148 |
T |
C |
2: 58,870,566 (GRCm39) |
D317G |
probably damaging |
Het |
Cnn3 |
C |
T |
3: 121,250,818 (GRCm39) |
Q19* |
probably null |
Het |
Cul5 |
T |
C |
9: 53,557,983 (GRCm39) |
D207G |
probably benign |
Het |
Cyp4x1 |
T |
C |
4: 114,984,757 (GRCm39) |
E41G |
possibly damaging |
Het |
Dagla |
T |
A |
19: 10,246,687 (GRCm39) |
M138L |
probably benign |
Het |
Dnah6 |
A |
T |
6: 73,106,523 (GRCm39) |
M1738K |
probably damaging |
Het |
Eif4enif1 |
T |
A |
11: 3,165,686 (GRCm39) |
S88T |
probably benign |
Het |
Eno3 |
T |
C |
11: 70,549,492 (GRCm39) |
|
probably null |
Het |
Erbb3 |
C |
A |
10: 128,407,073 (GRCm39) |
S1029I |
probably damaging |
Het |
Erbin |
C |
A |
13: 103,977,686 (GRCm39) |
V624L |
probably damaging |
Het |
Fam170b |
C |
T |
14: 32,557,359 (GRCm39) |
Q65* |
probably null |
Het |
Gin1 |
T |
A |
1: 97,713,780 (GRCm39) |
L360* |
probably null |
Het |
Gldc |
A |
T |
19: 30,120,853 (GRCm39) |
D359E |
probably damaging |
Het |
Gpr107 |
A |
T |
2: 31,057,063 (GRCm39) |
T52S |
possibly damaging |
Het |
Hip1r |
A |
G |
5: 124,132,883 (GRCm39) |
Y227C |
probably damaging |
Het |
Hmgxb3 |
A |
G |
18: 61,268,631 (GRCm39) |
L1004P |
probably damaging |
Het |
Hspa1l |
A |
G |
17: 35,196,419 (GRCm39) |
N153D |
probably damaging |
Het |
Itga8 |
C |
A |
2: 12,204,974 (GRCm39) |
V488L |
probably damaging |
Het |
Kcnk10 |
G |
A |
12: 98,462,547 (GRCm39) |
A134V |
probably benign |
Het |
Kif18a |
T |
A |
2: 109,128,748 (GRCm39) |
C406S |
probably benign |
Het |
Klhl28 |
A |
T |
12: 64,998,593 (GRCm39) |
S300R |
probably damaging |
Het |
Kmt2e |
C |
T |
5: 23,687,451 (GRCm39) |
Q434* |
probably null |
Het |
Lipn |
G |
A |
19: 34,058,110 (GRCm39) |
R277Q |
probably damaging |
Het |
Lrrc61 |
G |
A |
6: 48,545,708 (GRCm39) |
R177Q |
possibly damaging |
Het |
Lrrc74a |
G |
A |
12: 86,787,800 (GRCm39) |
E144K |
probably damaging |
Het |
Mal |
T |
C |
2: 127,476,964 (GRCm39) |
Y77C |
probably benign |
Het |
Map1a |
T |
A |
2: 121,133,136 (GRCm39) |
C1079* |
probably null |
Het |
Mbd5 |
T |
A |
2: 49,146,230 (GRCm39) |
S147T |
possibly damaging |
Het |
Nsd2 |
T |
A |
5: 34,018,493 (GRCm39) |
M509K |
probably benign |
Het |
Or13p4 |
C |
T |
4: 118,547,145 (GRCm39) |
R168H |
probably benign |
Het |
Or1ad8 |
T |
C |
11: 50,898,464 (GRCm39) |
F222L |
probably benign |
Het |
Or5an1c |
C |
T |
19: 12,218,195 (GRCm39) |
V277I |
probably benign |
Het |
Or6p1 |
T |
C |
1: 174,258,663 (GRCm39) |
V223A |
probably benign |
Het |
Rcor2 |
C |
T |
19: 7,247,546 (GRCm39) |
L45F |
probably damaging |
Het |
Rpl12 |
T |
A |
2: 32,853,537 (GRCm39) |
D107E |
probably benign |
Het |
Rpl7l1 |
A |
T |
17: 47,089,117 (GRCm39) |
F205I |
probably damaging |
Het |
Samd4b |
C |
T |
7: 28,113,435 (GRCm39) |
G177R |
probably damaging |
Het |
Sema4a |
A |
T |
3: 88,362,073 (GRCm39) |
F18I |
possibly damaging |
Het |
Slc37a1 |
A |
T |
17: 31,557,048 (GRCm39) |
T405S |
probably damaging |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Syt14 |
T |
C |
1: 192,579,790 (GRCm39) |
D781G |
probably damaging |
Het |
Tasor2 |
T |
C |
13: 3,619,507 (GRCm39) |
I2241M |
possibly damaging |
Het |
Tprn |
T |
G |
2: 25,154,421 (GRCm39) |
D574E |
probably benign |
Het |
Trim75 |
T |
A |
8: 65,435,163 (GRCm39) |
E429V |
probably damaging |
Het |
Trit1 |
C |
T |
4: 122,948,029 (GRCm39) |
R450C |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Unc13c |
A |
G |
9: 73,546,332 (GRCm39) |
|
probably null |
Het |
Usp49 |
C |
A |
17: 47,984,335 (GRCm39) |
L447I |
probably damaging |
Het |
Vmn1r20 |
T |
C |
6: 57,408,937 (GRCm39) |
C88R |
probably benign |
Het |
Zfp94 |
T |
A |
7: 24,002,259 (GRCm39) |
K394N |
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 |
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'- CAGGTAAAACCCTCCAGGCTTCAG -3'
(R):5'- TGAGTTACCATCATGCAGGGCCAG -3'
Sequencing Primer
(F):5'- CTCCAGGCTTCAGAAGGTAG -3'
(R):5'- CACATGAGGTATTCATGATGGC -3'
|
Posted On |
2014-05-09 |