Incidental Mutation 'A4554:Bpifb5'
ID |
94 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bpifb5
|
Ensembl Gene |
ENSMUSG00000038572 |
Gene Name |
BPI fold containing family B, member 5 |
Synonyms |
BC018465 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
A4554
of strain
gemini
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
154065662-154082822 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 154069100 bp (GRCm39)
|
Zygosity |
Homozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 139
(Y139F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046683
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045959]
|
AlphaFold |
Q3UQ05 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045959
AA Change: Y139F
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000046683 Gene: ENSMUSG00000038572 AA Change: Y139F
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
coiled coil region
|
26 |
54 |
N/A |
INTRINSIC |
Pfam:LBP_BPI_CETP
|
94 |
231 |
7.6e-14 |
PFAM |
Blast:BPI2
|
291 |
488 |
4e-91 |
BLAST |
SCOP:d1ewfa2
|
433 |
486 |
8e-3 |
SMART |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
|
Validation Efficiency |
84% (92/109) |
Allele List at MGI |
All alleles(1) : Targeted, other(1) |
Other mutations in this stock |
Total: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asap1 |
T |
C |
15: 63,996,560 (GRCm39) |
|
probably benign |
Het |
Chd2 |
A |
C |
7: 73,130,716 (GRCm39) |
V782G |
probably benign |
Homo |
Chst4 |
G |
T |
8: 110,756,520 (GRCm39) |
Q448K |
probably benign |
Homo |
Dido1 |
T |
C |
2: 180,317,164 (GRCm39) |
K8E |
probably damaging |
Homo |
Evpl |
A |
G |
11: 116,111,660 (GRCm39) |
L2010P |
probably damaging |
Homo |
Fgl2 |
A |
G |
5: 21,577,776 (GRCm39) |
E21G |
probably benign |
Homo |
Greb1l |
A |
T |
18: 10,532,862 (GRCm39) |
M919L |
possibly damaging |
Homo |
Kel |
T |
A |
6: 41,674,353 (GRCm39) |
D359V |
possibly damaging |
Homo |
Lmtk2 |
A |
G |
5: 144,103,135 (GRCm39) |
D298G |
possibly damaging |
Homo |
Masp1 |
A |
T |
16: 23,273,690 (GRCm39) |
|
probably null |
Homo |
Mrgprb8 |
A |
T |
7: 48,039,156 (GRCm39) |
I276F |
probably damaging |
Homo |
Nde1 |
T |
C |
16: 14,006,274 (GRCm39) |
|
probably benign |
Homo |
Rbck1 |
G |
T |
2: 152,161,092 (GRCm39) |
N385K |
probably damaging |
Homo |
Senp6 |
G |
T |
9: 80,055,740 (GRCm39) |
|
probably benign |
Het |
Tm4sf4 |
T |
A |
3: 57,345,188 (GRCm39) |
|
probably null |
Homo |
Ubn2 |
A |
T |
6: 38,461,045 (GRCm39) |
H488L |
probably damaging |
Homo |
Vmn2r120 |
A |
G |
17: 57,832,715 (GRCm39) |
F155L |
probably benign |
Homo |
Vmn2r65 |
T |
A |
7: 84,595,791 (GRCm39) |
T298S |
probably damaging |
Homo |
|
Other mutations in Bpifb5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01543:Bpifb5
|
APN |
2 |
154,075,169 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL01676:Bpifb5
|
APN |
2 |
154,070,969 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL02065:Bpifb5
|
APN |
2 |
154,069,103 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02141:Bpifb5
|
APN |
2 |
154,071,477 (GRCm39) |
splice site |
probably null |
|
IGL02244:Bpifb5
|
APN |
2 |
154,067,068 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03118:Bpifb5
|
APN |
2 |
154,078,673 (GRCm39) |
splice site |
probably benign |
|
R0022:Bpifb5
|
UTSW |
2 |
154,072,268 (GRCm39) |
missense |
probably damaging |
0.98 |
R0492:Bpifb5
|
UTSW |
2 |
154,070,820 (GRCm39) |
missense |
probably benign |
0.11 |
R0654:Bpifb5
|
UTSW |
2 |
154,070,820 (GRCm39) |
missense |
probably benign |
0.11 |
R0692:Bpifb5
|
UTSW |
2 |
154,076,616 (GRCm39) |
missense |
probably benign |
0.33 |
R0707:Bpifb5
|
UTSW |
2 |
154,070,820 (GRCm39) |
missense |
probably benign |
0.11 |
R0898:Bpifb5
|
UTSW |
2 |
154,075,254 (GRCm39) |
missense |
probably benign |
|
R1534:Bpifb5
|
UTSW |
2 |
154,071,419 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1539:Bpifb5
|
UTSW |
2 |
154,065,776 (GRCm39) |
missense |
probably benign |
|
R1874:Bpifb5
|
UTSW |
2 |
154,069,122 (GRCm39) |
splice site |
probably benign |
|
R1971:Bpifb5
|
UTSW |
2 |
154,072,264 (GRCm39) |
missense |
probably benign |
0.18 |
R2001:Bpifb5
|
UTSW |
2 |
154,075,199 (GRCm39) |
missense |
possibly damaging |
0.53 |
R3013:Bpifb5
|
UTSW |
2 |
154,070,775 (GRCm39) |
missense |
possibly damaging |
0.59 |
R3916:Bpifb5
|
UTSW |
2 |
154,070,101 (GRCm39) |
missense |
probably benign |
|
R4499:Bpifb5
|
UTSW |
2 |
154,082,678 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5250:Bpifb5
|
UTSW |
2 |
154,066,881 (GRCm39) |
missense |
probably benign |
|
R6301:Bpifb5
|
UTSW |
2 |
154,072,139 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6836:Bpifb5
|
UTSW |
2 |
154,069,985 (GRCm39) |
missense |
probably benign |
0.02 |
R6869:Bpifb5
|
UTSW |
2 |
154,075,143 (GRCm39) |
missense |
probably benign |
0.33 |
R7014:Bpifb5
|
UTSW |
2 |
154,066,876 (GRCm39) |
nonsense |
probably null |
|
R7300:Bpifb5
|
UTSW |
2 |
154,070,066 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7427:Bpifb5
|
UTSW |
2 |
154,067,042 (GRCm39) |
missense |
probably benign |
|
R7428:Bpifb5
|
UTSW |
2 |
154,067,042 (GRCm39) |
missense |
probably benign |
|
R7439:Bpifb5
|
UTSW |
2 |
154,070,853 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7448:Bpifb5
|
UTSW |
2 |
154,072,105 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7935:Bpifb5
|
UTSW |
2 |
154,070,975 (GRCm39) |
missense |
probably benign |
0.01 |
R8964:Bpifb5
|
UTSW |
2 |
154,072,198 (GRCm39) |
missense |
possibly damaging |
0.96 |
R9049:Bpifb5
|
UTSW |
2 |
154,070,096 (GRCm39) |
missense |
probably benign |
0.00 |
R9058:Bpifb5
|
UTSW |
2 |
154,080,817 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9349:Bpifb5
|
UTSW |
2 |
154,067,005 (GRCm39) |
missense |
possibly damaging |
0.96 |
T0975:Bpifb5
|
UTSW |
2 |
154,071,384 (GRCm39) |
splice site |
probably null |
|
|
Nature of Mutation |
DNA sequencing using the SOLiD technique identified an A to T transversion at position 459 of the BC018465transcript. The mutated nucleotide causes a tyrosine to phenylanine substitution at amino acid 139 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
|
Protein Function and Prediction |
The BC018465 gene encodes a predicted 490 amino acid lipid-binding serum glycoprotein. This protein is predicted to contain a signal peptide and an N-terminal domain at amino acids 83-232 characteristic of the protein family. These proteins also contain a C-terminal domain that has no sequence homology, but the same structure as the N-terminal domain. Interestingly, some of the proteins containing this domain are implicated in immunity by binding to and neutralizing lipopolysaccharides.
The Y139F change is predicted to be benign by the PolyPhen program.
|
Posted On |
2010-03-16 |