Incidental Mutation 'IGL00323:Lilrb4b'
| ID |
11070 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lilrb4b
|
| Ensembl Gene |
ENSMUSG00000112023 |
| Gene Name |
leukocyte immunoglobulin-like receptor, subfamily B, member 4B |
| Synonyms |
gp49, Lilr4b, Gp49a |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
IGL00323
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
51356757-51362417 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 51357347 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 61
(D61V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099958
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102894]
[ENSMUST00000217706]
[ENSMUST00000218123]
[ENSMUST00000218704]
[ENSMUST00000219661]
[ENSMUST00000219960]
[ENSMUST00000219696]
|
| AlphaFold |
Q61450 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102894
AA Change: D61V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000099958
Gene: ENSMUSG00000112023
AA Change: D61V
| 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 |
noncoding transcript
Transcript: ENSMUST00000139982
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217706
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218123
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218179
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218649
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218704
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219661
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219262
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218900
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219178
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219717
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219053
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219151
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219960
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219696
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219598
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap5m1 |
T |
C |
14: 49,311,247 (GRCm39) |
Y106H |
probably damaging |
Het |
| Atrnl1 |
C |
A |
19: 57,680,249 (GRCm39) |
N716K |
probably benign |
Het |
| Ccnq |
A |
G |
11: 78,641,782 (GRCm39) |
V236A |
probably benign |
Het |
| Cdk13 |
A |
T |
13: 17,895,683 (GRCm39) |
N1075K |
possibly damaging |
Het |
| Daam1 |
G |
A |
12: 72,005,517 (GRCm39) |
|
probably benign |
Het |
| Exd2 |
T |
C |
12: 80,522,940 (GRCm39) |
V133A |
probably damaging |
Het |
| Glrb |
T |
C |
3: 80,769,262 (GRCm39) |
D155G |
probably damaging |
Het |
| Gm13941 |
T |
A |
2: 110,935,198 (GRCm39) |
M11L |
unknown |
Het |
| Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
| Inpp5d |
G |
T |
1: 87,611,537 (GRCm39) |
V329F |
probably benign |
Het |
| Malt1 |
T |
A |
18: 65,582,034 (GRCm39) |
C299* |
probably null |
Het |
| Or10j27 |
G |
A |
1: 172,957,978 (GRCm39) |
Q269* |
probably null |
Het |
| Or4f14 |
A |
T |
2: 111,742,381 (GRCm39) |
M298K |
possibly damaging |
Het |
| Pigk |
C |
A |
3: 152,453,269 (GRCm39) |
S282* |
probably null |
Het |
| Pik3r1 |
T |
A |
13: 101,827,044 (GRCm39) |
M1L |
probably benign |
Het |
| Pnpla1 |
A |
G |
17: 29,096,416 (GRCm39) |
Y165C |
probably damaging |
Het |
| Rfx7 |
A |
G |
9: 72,524,702 (GRCm39) |
N631D |
probably damaging |
Het |
| Rp1 |
T |
A |
1: 4,416,969 (GRCm39) |
D1381V |
probably damaging |
Het |
| Rrp8 |
T |
C |
7: 105,382,223 (GRCm39) |
|
probably benign |
Het |
| Scn4a |
A |
T |
11: 106,210,745 (GRCm39) |
D1757E |
probably benign |
Het |
| Sec62 |
T |
C |
3: 30,864,591 (GRCm39) |
|
probably benign |
Het |
| Smarca5 |
G |
A |
8: 81,440,670 (GRCm39) |
T598M |
probably benign |
Het |
| Sptbn5 |
T |
C |
2: 119,884,948 (GRCm39) |
|
probably benign |
Het |
| Srcap |
T |
C |
7: 127,141,885 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
T |
A |
14: 30,861,263 (GRCm39) |
E71D |
probably benign |
Het |
| Trhde |
A |
T |
10: 114,322,652 (GRCm39) |
S716R |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,726,859 (GRCm39) |
|
probably benign |
Het |
| Wscd2 |
A |
C |
5: 113,689,236 (GRCm39) |
T81P |
possibly damaging |
Het |
| Zfp335 |
G |
A |
2: 164,734,302 (GRCm39) |
T1295I |
probably damaging |
Het |
|
| Other mutations in Lilrb4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R6404:Lilrb4b
|
UTSW |
10 |
51,361,825 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation