Incidental Mutation 'R6224:Lilrb4a'
ID |
504199 |
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 |
044355-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.114)
|
Stock # |
R6224 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
51367052-51372707 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 51367745 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 96
(Y96N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151694
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078778]
[ENSMUST00000102894]
[ENSMUST00000217705]
[ENSMUST00000217706]
[ENSMUST00000218123]
[ENSMUST00000219696]
[ENSMUST00000219960]
[ENSMUST00000218617]
[ENSMUST00000220182]
[ENSMUST00000220226]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000078778
AA Change: Y96N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000077833 Gene: ENSMUSG00000112148 AA Change: Y96N
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: ENSMUST00000217705
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000217706
AA Change: Y96N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000218123
AA Change: Y96N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218217
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000219696
AA Change: Y96N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218340
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219388
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218753
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219960
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218617
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220166
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219848
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219828
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219029
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218413
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219175
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220182
AA Change: Y96N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220226
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220402
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (55/55) |
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 |
2300003K06Rik |
A |
C |
11: 99,728,840 (GRCm39) |
M1R |
probably null |
Het |
4930505A04Rik |
A |
C |
11: 30,404,815 (GRCm39) |
N29K |
probably benign |
Het |
Adamtsl4 |
T |
C |
3: 95,589,039 (GRCm39) |
Y464C |
probably damaging |
Het |
Asgr2 |
T |
C |
11: 69,989,072 (GRCm39) |
V172A |
probably damaging |
Het |
Atad1 |
T |
C |
19: 32,676,028 (GRCm39) |
Y132C |
probably damaging |
Het |
Bpifa6 |
G |
A |
2: 153,829,073 (GRCm39) |
R200H |
probably damaging |
Het |
Brd1 |
A |
T |
15: 88,572,558 (GRCm39) |
M1171K |
possibly damaging |
Het |
Cadm2 |
A |
T |
16: 66,461,281 (GRCm39) |
L392Q |
probably damaging |
Het |
Ccdc183 |
C |
T |
2: 25,500,594 (GRCm39) |
E333K |
possibly damaging |
Het |
Cenpe |
T |
C |
3: 134,949,536 (GRCm39) |
I1335T |
possibly damaging |
Het |
Cpxm2 |
T |
C |
7: 131,745,460 (GRCm39) |
N122D |
probably benign |
Het |
Crls1 |
T |
A |
2: 132,691,770 (GRCm39) |
|
probably null |
Het |
Cyp46a1 |
T |
C |
12: 108,327,819 (GRCm39) |
F460S |
probably damaging |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dcps |
T |
A |
9: 35,047,777 (GRCm39) |
T128S |
probably benign |
Het |
Dcun1d3 |
A |
T |
7: 119,458,714 (GRCm39) |
L107* |
probably null |
Het |
Eml1 |
T |
C |
12: 108,480,767 (GRCm39) |
F397S |
probably damaging |
Het |
Fanca |
T |
A |
8: 124,032,020 (GRCm39) |
H348L |
possibly damaging |
Het |
Foxo1 |
T |
A |
3: 52,253,093 (GRCm39) |
S419T |
probably benign |
Het |
Gli3 |
T |
C |
13: 15,899,730 (GRCm39) |
V1039A |
probably benign |
Het |
Gng14 |
A |
T |
8: 85,794,220 (GRCm39) |
*73R |
probably null |
Het |
Gp6 |
A |
T |
7: 4,397,211 (GRCm39) |
F75I |
probably benign |
Het |
Gpha2 |
T |
A |
19: 6,277,142 (GRCm39) |
I81N |
possibly damaging |
Het |
Gspt1 |
C |
A |
16: 11,042,406 (GRCm39) |
V493L |
probably benign |
Het |
Igsf10 |
C |
A |
3: 59,232,931 (GRCm39) |
C1934F |
probably damaging |
Het |
Irgm1 |
T |
C |
11: 48,757,713 (GRCm39) |
T49A |
probably benign |
Het |
Klc4 |
A |
G |
17: 46,950,988 (GRCm39) |
I207T |
possibly damaging |
Het |
Krt1 |
A |
T |
15: 101,758,702 (GRCm39) |
V154D |
possibly damaging |
Het |
Lama1 |
T |
C |
17: 68,109,982 (GRCm39) |
V2201A |
possibly damaging |
Het |
Lrfn2 |
A |
G |
17: 49,403,379 (GRCm39) |
T501A |
probably damaging |
Het |
Lrriq1 |
A |
G |
10: 103,051,618 (GRCm39) |
I378T |
probably damaging |
Het |
Mphosph8 |
T |
C |
14: 56,905,810 (GRCm39) |
M1T |
probably null |
Het |
Nsd1 |
T |
C |
13: 55,460,945 (GRCm39) |
S2391P |
possibly damaging |
Het |
Ogdhl |
G |
A |
14: 32,064,018 (GRCm39) |
G647D |
probably benign |
Het |
Or5p57 |
T |
C |
7: 107,665,949 (GRCm39) |
I19V |
probably benign |
Het |
Or6c76b |
A |
G |
10: 129,693,061 (GRCm39) |
K225E |
probably benign |
Het |
Pbrm1 |
T |
A |
14: 30,772,068 (GRCm39) |
H387Q |
probably benign |
Het |
Pdgfrb |
C |
A |
18: 61,215,011 (GRCm39) |
Y1013* |
probably null |
Het |
Pitrm1 |
T |
C |
13: 6,615,090 (GRCm39) |
V562A |
probably damaging |
Het |
Pnpla8 |
T |
C |
12: 44,329,811 (GRCm39) |
V121A |
possibly damaging |
Het |
Psd4 |
T |
C |
2: 24,291,569 (GRCm39) |
L639P |
probably damaging |
Het |
Psmc3 |
G |
T |
2: 90,884,975 (GRCm39) |
R47L |
probably damaging |
Het |
Rptn |
C |
G |
3: 93,305,437 (GRCm39) |
H923Q |
possibly damaging |
Het |
Sesn2 |
A |
G |
4: 132,229,881 (GRCm39) |
V50A |
probably benign |
Het |
Skic3 |
C |
T |
13: 76,266,410 (GRCm39) |
T219M |
probably benign |
Het |
Slc6a16 |
G |
A |
7: 44,910,572 (GRCm39) |
G377S |
probably damaging |
Het |
Slitrk1 |
A |
G |
14: 109,149,454 (GRCm39) |
F419S |
probably damaging |
Het |
Slitrk5 |
GACTAC |
GACTACTAC |
14: 111,917,248 (GRCm39) |
|
probably benign |
Het |
Spata31d1a |
T |
A |
13: 59,854,134 (GRCm39) |
|
probably benign |
Homo |
Tgoln1 |
A |
T |
6: 72,592,984 (GRCm39) |
D165E |
possibly damaging |
Het |
Tmprss15 |
T |
A |
16: 78,821,266 (GRCm39) |
T492S |
probably benign |
Het |
Zc3h13 |
T |
A |
14: 75,574,849 (GRCm39) |
M1565K |
probably damaging |
Het |
Zcwpw1 |
T |
C |
5: 137,810,298 (GRCm39) |
V358A |
possibly damaging |
Het |
Zfp607a |
A |
G |
7: 27,578,007 (GRCm39) |
H359R |
probably damaging |
Het |
Zzef1 |
T |
A |
11: 72,746,209 (GRCm39) |
V837E |
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 |
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 |
|
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'- TCGCTGCGTATACATCTGTG -3'
(R):5'- AGGCTGGGATTTTCATATGCTC -3'
Sequencing Primer
(F):5'- GCTGCGTATACATCTGTGATTAC -3'
(R):5'- TCATATGCTCCTAGAATACAAGGGAC -3'
|
Posted On |
2018-02-28 |