Incidental Mutation 'IGL02752:Bpi'
| ID |
304244 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bpi
|
| Ensembl Gene |
ENSMUSG00000052922 |
| Gene Name |
bactericidal permeablility increasing protein |
| Synonyms |
Bpifd1, 9230105K17Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02752
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
158100014-158126451 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 158104344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 149
(D149G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065039]
[ENSMUST00000109499]
[ENSMUST00000109500]
|
| AlphaFold |
Q67E05 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065039
AA Change: D149G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000067837
Gene: ENSMUSG00000052922
AA Change: D149G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
BPI1
|
36 |
259 |
1.72e-70 |
SMART |
|
BPI2
|
274 |
481 |
7.01e-53 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109499
AA Change: D149G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105125
Gene: ENSMUSG00000052922
AA Change: D149G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
BPI1
|
36 |
259 |
1.72e-70 |
SMART |
|
BPI2
|
274 |
478 |
3.93e-56 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109500
AA Change: D149G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105126
Gene: ENSMUSG00000052922
AA Change: D149G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
BPI1
|
36 |
259 |
1.72e-70 |
SMART |
|
BPI2
|
274 |
477 |
5.43e-59 |
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 lipopolysaccharide binding protein. It is associated with human neutrophil granules and has antimicrobial activity against gram-negative organisms. [provided by RefSeq, Nov 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
C |
A |
15: 84,840,042 (GRCm39) |
E145* |
probably null |
Het |
| Abca9 |
A |
G |
11: 110,018,194 (GRCm39) |
F1142S |
probably damaging |
Het |
| Bod1l |
T |
C |
5: 41,973,806 (GRCm39) |
T2503A |
possibly damaging |
Het |
| Cntnap5a |
A |
G |
1: 116,508,261 (GRCm39) |
T1258A |
probably benign |
Het |
| Col4a3 |
A |
G |
1: 82,637,946 (GRCm39) |
D256G |
unknown |
Het |
| Cul5 |
T |
C |
9: 53,546,278 (GRCm39) |
T338A |
probably damaging |
Het |
| Efs |
A |
G |
14: 55,154,880 (GRCm39) |
V453A |
probably damaging |
Het |
| Fbxw19 |
T |
A |
9: 109,323,709 (GRCm39) |
N89Y |
probably benign |
Het |
| Fbxw8 |
A |
G |
5: 118,280,815 (GRCm39) |
F114S |
probably damaging |
Het |
| Flnb |
A |
G |
14: 7,917,338 (GRCm38) |
I1606V |
probably benign |
Het |
| Gpr158 |
A |
G |
2: 21,831,638 (GRCm39) |
T913A |
possibly damaging |
Het |
| Gtf2f1 |
A |
T |
17: 57,316,682 (GRCm39) |
|
probably benign |
Het |
| Gtf2ird1 |
T |
A |
5: 134,387,678 (GRCm39) |
*1059L |
probably null |
Het |
| Hmgb4 |
T |
C |
4: 128,154,134 (GRCm39) |
K145E |
probably damaging |
Het |
| Igf2bp2 |
T |
A |
16: 21,898,860 (GRCm39) |
M250L |
probably benign |
Het |
| Igkv14-111 |
A |
G |
6: 68,233,561 (GRCm39) |
K21E |
probably benign |
Het |
| Il6st |
C |
T |
13: 112,616,729 (GRCm39) |
T92I |
probably damaging |
Het |
| Jak3 |
G |
T |
8: 72,135,595 (GRCm39) |
V581L |
possibly damaging |
Het |
| Kank2 |
C |
T |
9: 21,706,329 (GRCm39) |
V230M |
probably damaging |
Het |
| Kif1a |
G |
A |
1: 92,967,569 (GRCm39) |
A1123V |
possibly damaging |
Het |
| Kpna4 |
T |
A |
3: 69,002,863 (GRCm39) |
R125* |
probably null |
Het |
| Mybpc3 |
A |
T |
2: 90,962,982 (GRCm39) |
|
probably null |
Het |
| Ntn4 |
T |
C |
10: 93,546,421 (GRCm39) |
V358A |
possibly damaging |
Het |
| Pacsin1 |
A |
T |
17: 27,921,672 (GRCm39) |
|
probably null |
Het |
| Pcsk2 |
A |
G |
2: 143,615,865 (GRCm39) |
N221S |
probably benign |
Het |
| Pik3cg |
A |
G |
12: 32,254,262 (GRCm39) |
L575P |
probably damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,623,815 (GRCm39) |
V760E |
possibly damaging |
Het |
| Plxnc1 |
T |
C |
10: 94,630,542 (GRCm39) |
|
probably null |
Het |
| Ppfia1 |
T |
C |
7: 144,073,341 (GRCm39) |
T217A |
probably benign |
Het |
| Rictor |
A |
G |
15: 6,816,852 (GRCm39) |
T1375A |
probably benign |
Het |
| Scn1a |
A |
G |
2: 66,161,756 (GRCm39) |
I264T |
probably damaging |
Het |
| Sez6l2 |
T |
C |
7: 126,552,905 (GRCm39) |
S164P |
probably damaging |
Het |
| Slc31a1 |
C |
T |
4: 62,303,869 (GRCm39) |
|
probably benign |
Het |
| Slc45a1 |
T |
C |
4: 150,722,478 (GRCm39) |
N469D |
probably benign |
Het |
| Slco1a5 |
T |
C |
6: 142,208,438 (GRCm39) |
T76A |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Stfa3 |
G |
A |
16: 36,270,999 (GRCm39) |
T95I |
probably damaging |
Het |
| Stk11ip |
A |
C |
1: 75,501,325 (GRCm39) |
|
probably null |
Het |
| Tcn2 |
C |
A |
11: 3,876,158 (GRCm39) |
S90I |
possibly damaging |
Het |
| Traf1 |
A |
G |
2: 34,848,020 (GRCm39) |
S25P |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,622,125 (GRCm39) |
|
probably benign |
Het |
| Wdfy4 |
A |
T |
14: 32,798,283 (GRCm39) |
I2041N |
probably damaging |
Het |
| Zfp512b |
A |
T |
2: 181,229,864 (GRCm39) |
D556E |
possibly damaging |
Het |
| Zfpm2 |
T |
A |
15: 40,965,415 (GRCm39) |
D633E |
probably benign |
Het |
|
| Other mutations in Bpi |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00092:Bpi
|
APN |
2 |
158,116,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00327:Bpi
|
APN |
2 |
158,116,764 (GRCm39) |
critical splice donor site |
probably benign |
|
|
IGL01614:Bpi
|
APN |
2 |
158,113,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02301:Bpi
|
APN |
2 |
158,116,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02516:Bpi
|
APN |
2 |
158,109,651 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0077:Bpi
|
UTSW |
2 |
158,103,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0085:Bpi
|
UTSW |
2 |
158,115,072 (GRCm39) |
nonsense |
probably null |
|
|
R0433:Bpi
|
UTSW |
2 |
158,100,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0580:Bpi
|
UTSW |
2 |
158,100,215 (GRCm39) |
start codon destroyed |
probably damaging |
0.98 |
|
R0605:Bpi
|
UTSW |
2 |
158,103,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0924:Bpi
|
UTSW |
2 |
158,103,346 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0930:Bpi
|
UTSW |
2 |
158,103,346 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1173:Bpi
|
UTSW |
2 |
158,109,660 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1530:Bpi
|
UTSW |
2 |
158,103,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1923:Bpi
|
UTSW |
2 |
158,103,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1955:Bpi
|
UTSW |
2 |
158,116,635 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2011:Bpi
|
UTSW |
2 |
158,103,272 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4748:Bpi
|
UTSW |
2 |
158,113,941 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6005:Bpi
|
UTSW |
2 |
158,104,400 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6374:Bpi
|
UTSW |
2 |
158,113,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6994:Bpi
|
UTSW |
2 |
158,100,164 (GRCm39) |
start gained |
probably benign |
|
|
R7072:Bpi
|
UTSW |
2 |
158,113,998 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7707:Bpi
|
UTSW |
2 |
158,103,093 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8825:Bpi
|
UTSW |
2 |
158,109,670 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9180:Bpi
|
UTSW |
2 |
158,116,608 (GRCm39) |
missense |
probably benign |
0.29 |
|
Z1176:Bpi
|
UTSW |
2 |
158,114,022 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2015-04-16 |
Incidental Mutation