Incidental Mutation 'IGL02001:Bpifb2'
ID |
183067 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Bpifb2
|
Ensembl Gene |
ENSMUSG00000027481 |
Gene Name |
BPI fold containing family B, member 2 |
Synonyms |
2310069A01Rik, Bpil1, 2310034L21Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.150)
|
Stock # |
IGL02001
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
153716965-153737190 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 153733195 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028983
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028983]
|
AlphaFold |
Q8C1E1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028983
|
SMART Domains |
Protein: ENSMUSP00000028983 Gene: ENSMUSG00000027481
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:LBP_BPI_CETP
|
36 |
194 |
2.4e-27 |
PFAM |
BPI2
|
253 |
456 |
2.67e-26 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the lipid transfer/lipopolysaccharide binding protein (LT/LBP) gene family. It is highly expressed in hypertrophic tonsils. This gene and three other members of the LT/LBP gene family form a cluster on the long arm of chromosome 20. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530064D06Rik |
T |
C |
17: 48,473,842 (GRCm39) |
N25S |
possibly damaging |
Het |
Als2 |
A |
T |
1: 59,219,347 (GRCm39) |
|
probably benign |
Het |
Asah2 |
T |
A |
19: 32,020,939 (GRCm39) |
K255* |
probably null |
Het |
Bclaf1 |
A |
G |
10: 20,198,762 (GRCm39) |
|
probably benign |
Het |
Cacna2d2 |
G |
A |
9: 107,399,315 (GRCm39) |
V669I |
probably benign |
Het |
Cep89 |
T |
A |
7: 35,102,432 (GRCm39) |
|
probably benign |
Het |
Chl1 |
T |
G |
6: 103,619,017 (GRCm39) |
L29R |
possibly damaging |
Het |
Defb2 |
T |
C |
8: 22,333,353 (GRCm39) |
Y43H |
probably damaging |
Het |
Disc1 |
A |
G |
8: 125,977,781 (GRCm39) |
Y799C |
probably damaging |
Het |
Egf |
G |
T |
3: 129,510,417 (GRCm39) |
A34E |
probably damaging |
Het |
Fat2 |
A |
T |
11: 55,203,071 (GRCm39) |
M1K |
probably null |
Het |
Gprin1 |
T |
C |
13: 54,887,005 (GRCm39) |
E423G |
probably damaging |
Het |
Kcnh6 |
T |
C |
11: 105,918,375 (GRCm39) |
|
probably benign |
Het |
Kcnt1 |
A |
G |
2: 25,798,164 (GRCm39) |
E925G |
probably damaging |
Het |
Kctd16 |
A |
T |
18: 40,391,733 (GRCm39) |
K107I |
possibly damaging |
Het |
Lrig1 |
T |
C |
6: 94,584,305 (GRCm39) |
K913R |
probably benign |
Het |
Marchf7 |
A |
G |
2: 60,065,235 (GRCm39) |
T504A |
possibly damaging |
Het |
Mrpl11 |
C |
T |
19: 5,013,680 (GRCm39) |
R154* |
probably null |
Het |
Nlrp4a |
T |
C |
7: 26,149,394 (GRCm39) |
F334L |
probably benign |
Het |
Or2z2 |
C |
T |
11: 58,346,335 (GRCm39) |
V147M |
probably benign |
Het |
Or55b10 |
T |
A |
7: 102,143,746 (GRCm39) |
T79S |
probably benign |
Het |
Parp6 |
A |
G |
9: 59,557,244 (GRCm39) |
T610A |
possibly damaging |
Het |
Pcdhb15 |
T |
G |
18: 37,607,091 (GRCm39) |
L108V |
probably benign |
Het |
Pomgnt1 |
G |
T |
4: 116,010,105 (GRCm39) |
E156* |
probably null |
Het |
Psma2 |
T |
G |
13: 14,798,192 (GRCm39) |
F105V |
possibly damaging |
Het |
Rapgef4 |
A |
G |
2: 72,055,396 (GRCm39) |
|
probably benign |
Het |
Sclt1 |
A |
T |
3: 41,636,156 (GRCm39) |
S282T |
possibly damaging |
Het |
Semp2l2b |
A |
T |
10: 21,943,176 (GRCm39) |
M268K |
probably benign |
Het |
Serpina3f |
A |
G |
12: 104,185,725 (GRCm39) |
Y310C |
probably damaging |
Het |
Sh3pxd2a |
T |
C |
19: 47,261,886 (GRCm39) |
K331R |
probably damaging |
Het |
Tectb |
T |
C |
19: 55,178,027 (GRCm39) |
F183L |
possibly damaging |
Het |
Tgfbr1 |
A |
G |
4: 47,403,388 (GRCm39) |
H327R |
probably damaging |
Het |
Try10 |
T |
A |
6: 41,333,523 (GRCm39) |
D89E |
probably benign |
Het |
Ttn |
G |
A |
2: 76,587,128 (GRCm39) |
S21623L |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,612,282 (GRCm39) |
L15489P |
probably damaging |
Het |
Vdac3-ps1 |
A |
G |
13: 18,205,973 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r69 |
T |
A |
7: 85,056,434 (GRCm39) |
Q568L |
probably benign |
Het |
Wdr36 |
T |
A |
18: 32,985,941 (GRCm39) |
D548E |
probably damaging |
Het |
Zfand4 |
T |
A |
6: 116,250,613 (GRCm39) |
H14Q |
probably benign |
Het |
|
Other mutations in Bpifb2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02164:Bpifb2
|
APN |
2 |
153,725,482 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03063:Bpifb2
|
APN |
2 |
153,731,044 (GRCm39) |
missense |
probably damaging |
1.00 |
R0044:Bpifb2
|
UTSW |
2 |
153,724,599 (GRCm39) |
splice site |
probably benign |
|
R0044:Bpifb2
|
UTSW |
2 |
153,724,599 (GRCm39) |
splice site |
probably benign |
|
R0084:Bpifb2
|
UTSW |
2 |
153,733,011 (GRCm39) |
missense |
probably benign |
0.03 |
R0791:Bpifb2
|
UTSW |
2 |
153,720,439 (GRCm39) |
missense |
probably benign |
0.05 |
R1503:Bpifb2
|
UTSW |
2 |
153,731,430 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2278:Bpifb2
|
UTSW |
2 |
153,720,399 (GRCm39) |
nonsense |
probably null |
|
R3810:Bpifb2
|
UTSW |
2 |
153,733,871 (GRCm39) |
missense |
probably benign |
0.04 |
R3812:Bpifb2
|
UTSW |
2 |
153,733,871 (GRCm39) |
missense |
probably benign |
0.04 |
R4030:Bpifb2
|
UTSW |
2 |
153,733,237 (GRCm39) |
missense |
probably benign |
0.30 |
R4573:Bpifb2
|
UTSW |
2 |
153,731,412 (GRCm39) |
missense |
probably damaging |
0.99 |
R4713:Bpifb2
|
UTSW |
2 |
153,723,113 (GRCm39) |
missense |
probably damaging |
0.98 |
R5143:Bpifb2
|
UTSW |
2 |
153,720,424 (GRCm39) |
missense |
probably damaging |
1.00 |
R5523:Bpifb2
|
UTSW |
2 |
153,717,905 (GRCm39) |
unclassified |
probably benign |
|
R5899:Bpifb2
|
UTSW |
2 |
153,733,050 (GRCm39) |
missense |
probably damaging |
1.00 |
R6011:Bpifb2
|
UTSW |
2 |
153,731,496 (GRCm39) |
splice site |
probably null |
|
R6172:Bpifb2
|
UTSW |
2 |
153,732,332 (GRCm39) |
missense |
probably benign |
0.15 |
R6378:Bpifb2
|
UTSW |
2 |
153,733,072 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6878:Bpifb2
|
UTSW |
2 |
153,717,832 (GRCm39) |
unclassified |
probably benign |
|
R7381:Bpifb2
|
UTSW |
2 |
153,734,268 (GRCm39) |
missense |
probably benign |
0.01 |
R7390:Bpifb2
|
UTSW |
2 |
153,731,726 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7424:Bpifb2
|
UTSW |
2 |
153,732,460 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7473:Bpifb2
|
UTSW |
2 |
153,723,116 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7493:Bpifb2
|
UTSW |
2 |
153,731,397 (GRCm39) |
missense |
possibly damaging |
0.74 |
R8145:Bpifb2
|
UTSW |
2 |
153,733,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R8178:Bpifb2
|
UTSW |
2 |
153,733,876 (GRCm39) |
missense |
probably damaging |
0.99 |
R8725:Bpifb2
|
UTSW |
2 |
153,731,356 (GRCm39) |
missense |
possibly damaging |
0.47 |
R8960:Bpifb2
|
UTSW |
2 |
153,731,046 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9201:Bpifb2
|
UTSW |
2 |
153,733,903 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
Posted On |
2014-05-07 |