Incidental Mutation 'R6404:Lilrb4b'
| ID |
518901 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lilrb4b
|
| Ensembl Gene |
ENSMUSG00000112023 |
| Gene Name |
leukocyte immunoglobulin-like receptor, subfamily B, member 4B |
| Synonyms |
gp49, Lilr4b, Gp49a |
| MMRRC Submission |
044549-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R6404 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
51356757-51362417 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 51361825 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 199
(D199G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151625
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102894]
[ENSMUST00000217706]
[ENSMUST00000218123]
[ENSMUST00000218704]
[ENSMUST00000219661]
[ENSMUST00000219696]
[ENSMUST00000219960]
|
| AlphaFold |
Q61450 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102894
AA Change: D294G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099958
Gene: ENSMUSG00000112023
AA Change: D294G
| 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: ENSMUST00000217706
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218123
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218179
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218413
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218649
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218704
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219661
AA Change: D199G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219696
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219262
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219960
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219598
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219828
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219053
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219151
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219178
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219717
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218900
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.4%
|
| Validation Efficiency |
98% (40/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,484,892 (GRCm39) |
D1540G |
probably benign |
Het |
| Adamts7 |
A |
T |
9: 90,062,509 (GRCm39) |
|
probably null |
Het |
| Apol10a |
C |
A |
15: 77,373,241 (GRCm39) |
F292L |
probably benign |
Het |
| Atp13a4 |
A |
T |
16: 29,290,719 (GRCm39) |
Y243* |
probably null |
Het |
| Cc2d2a |
A |
G |
5: 43,861,416 (GRCm39) |
N660D |
possibly damaging |
Het |
| Ccdc57 |
T |
C |
11: 120,785,538 (GRCm39) |
T466A |
probably benign |
Het |
| Ccdc74a |
A |
T |
16: 17,467,889 (GRCm39) |
N249Y |
possibly damaging |
Het |
| Cd3e |
T |
A |
9: 44,912,426 (GRCm39) |
E106V |
probably damaging |
Het |
| Col4a1 |
G |
T |
8: 11,257,409 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
T |
C |
4: 128,415,743 (GRCm39) |
Y2691H |
possibly damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,282,820 (GRCm39) |
R2786G |
probably damaging |
Het |
| Dpyd |
A |
G |
3: 119,059,606 (GRCm39) |
T768A |
probably benign |
Het |
| Endou |
T |
A |
15: 97,610,012 (GRCm39) |
Q428L |
probably damaging |
Het |
| Fam13c |
T |
C |
10: 70,284,646 (GRCm39) |
|
probably null |
Het |
| Fhip1b |
G |
A |
7: 105,034,198 (GRCm39) |
R478* |
probably null |
Het |
| Frmd5 |
G |
A |
2: 121,379,699 (GRCm39) |
R70* |
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
| Gm4131 |
T |
A |
14: 62,718,598 (GRCm39) |
R3* |
probably null |
Het |
| Habp4 |
A |
G |
13: 64,330,000 (GRCm39) |
T302A |
possibly damaging |
Het |
| Ift81 |
A |
T |
5: 122,749,069 (GRCm39) |
D27E |
probably damaging |
Het |
| Iqcf3 |
T |
C |
9: 106,430,083 (GRCm39) |
I107V |
probably benign |
Het |
| Iqgap2 |
A |
G |
13: 95,865,985 (GRCm39) |
I298T |
probably benign |
Het |
| Lsm8 |
C |
T |
6: 18,848,739 (GRCm39) |
S3F |
possibly damaging |
Het |
| Meox1 |
T |
C |
11: 101,769,482 (GRCm39) |
E238G |
probably benign |
Het |
| Naip1 |
A |
T |
13: 100,559,727 (GRCm39) |
D1092E |
probably benign |
Het |
| Neb |
T |
C |
2: 52,097,737 (GRCm39) |
Y901C |
probably damaging |
Het |
| Nfat5 |
A |
G |
8: 108,097,220 (GRCm39) |
M121V |
probably benign |
Het |
| Notch2 |
G |
A |
3: 97,989,314 (GRCm39) |
G278D |
probably damaging |
Het |
| Or4c121 |
T |
C |
2: 89,023,906 (GRCm39) |
I157M |
probably damaging |
Het |
| Pbld2 |
T |
A |
10: 62,890,107 (GRCm39) |
S172T |
probably damaging |
Het |
| Pla2g7 |
T |
A |
17: 43,905,688 (GRCm39) |
Y83N |
probably damaging |
Het |
| Plxnb1 |
A |
T |
9: 108,945,705 (GRCm39) |
I2079F |
probably damaging |
Het |
| Rara |
T |
C |
11: 98,851,839 (GRCm39) |
F17L |
probably benign |
Het |
| Skint5 |
G |
A |
4: 113,799,806 (GRCm39) |
T121I |
probably damaging |
Het |
| Slco6c1 |
T |
C |
1: 97,046,330 (GRCm39) |
Y251C |
probably damaging |
Het |
| Slmap |
T |
A |
14: 26,143,566 (GRCm39) |
|
probably null |
Het |
| Uba2 |
A |
T |
7: 33,853,985 (GRCm39) |
L319Q |
probably damaging |
Het |
| Vmn2r96 |
A |
T |
17: 18,817,793 (GRCm39) |
I457F |
probably damaging |
Het |
| Zfp57 |
A |
T |
17: 37,320,716 (GRCm39) |
H190L |
probably damaging |
Het |
| Zfp738 |
A |
G |
13: 67,819,179 (GRCm39) |
S271P |
possibly damaging |
Het |
| Zp2 |
A |
T |
7: 119,734,765 (GRCm39) |
H474Q |
possibly damaging |
Het |
|
| Other mutations in Lilrb4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00323:Lilrb4b
|
APN |
10 |
51,357,347 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02457:Lilrb4b
|
APN |
10 |
51,357,334 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03221:Lilrb4b
|
APN |
10 |
51,357,524 (GRCm39) |
splice site |
probably benign |
|
|
IGL03396:Lilrb4b
|
APN |
10 |
51,357,253 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0145:Lilrb4b
|
UTSW |
10 |
51,360,614 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0336:Lilrb4b
|
UTSW |
10 |
51,357,389 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1313:Lilrb4b
|
UTSW |
10 |
51,356,832 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1543:Lilrb4b
|
UTSW |
10 |
51,357,517 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1984:Lilrb4b
|
UTSW |
10 |
51,357,831 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1985:Lilrb4b
|
UTSW |
10 |
51,357,831 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2243:Lilrb4b
|
UTSW |
10 |
51,357,704 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4094:Lilrb4b
|
UTSW |
10 |
51,357,506 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4887:Lilrb4b
|
UTSW |
10 |
51,360,616 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5588:Lilrb4b
|
UTSW |
10 |
51,357,422 (GRCm39) |
missense |
probably benign |
|
|
R8347:Lilrb4b
|
UTSW |
10 |
51,357,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9158:Lilrb4b
|
UTSW |
10 |
51,357,829 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9253:Lilrb4b
|
UTSW |
10 |
51,357,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9301:Lilrb4b
|
UTSW |
10 |
51,356,801 (GRCm39) |
start gained |
probably benign |
|
|
R9400:Lilrb4b
|
UTSW |
10 |
51,357,319 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9673:Lilrb4b
|
UTSW |
10 |
51,357,753 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Lilrb4b
|
UTSW |
10 |
51,357,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGATACAGTCCTCAGACATG -3'
(R):5'- CTTTGCATGCAGTGTCCTGG -3'
Sequencing Primer
(F):5'- TCCTCAGACATGAAAATGGGAATC -3'
(R):5'- CAGTGTCCTGGGGTTGGATAGAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation