Incidental Mutation 'IGL00092:Bpi'
| ID |
1826 |
| 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 # |
IGL00092
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
158100014-158126451 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 158116716 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 371
(V371E)
|
| 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: V371E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000067837
Gene: ENSMUSG00000052922
AA Change: V371E
| 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: V371E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105125
Gene: ENSMUSG00000052922
AA Change: V371E
| 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: V371E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105126
Gene: ENSMUSG00000052922
AA Change: V371E
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
C |
12: 118,892,430 (GRCm39) |
D443G |
probably benign |
Het |
| Atg16l1 |
T |
C |
1: 87,693,119 (GRCm39) |
I28T |
possibly damaging |
Het |
| Cd109 |
T |
G |
9: 78,524,251 (GRCm39) |
V55G |
probably damaging |
Het |
| Cd300c2 |
T |
C |
11: 114,892,375 (GRCm39) |
|
probably benign |
Het |
| Cic |
C |
T |
7: 24,991,549 (GRCm39) |
R1280C |
probably damaging |
Het |
| Cngb1 |
G |
A |
8: 95,968,812 (GRCm39) |
|
probably benign |
Het |
| Cntn4 |
G |
T |
6: 106,483,186 (GRCm39) |
C247F |
probably damaging |
Het |
| Disp3 |
C |
T |
4: 148,325,991 (GRCm39) |
V1256I |
probably benign |
Het |
| Farsb |
A |
T |
1: 78,439,630 (GRCm39) |
S338T |
probably benign |
Het |
| Fcnb |
T |
C |
2: 27,966,813 (GRCm39) |
N240S |
probably benign |
Het |
| Flg2 |
A |
G |
3: 93,127,162 (GRCm39) |
S5G |
possibly damaging |
Het |
| Git1 |
T |
C |
11: 77,396,783 (GRCm39) |
L635P |
probably benign |
Het |
| Gm21985 |
T |
G |
2: 112,181,679 (GRCm39) |
W685G |
probably damaging |
Het |
| Gpt2 |
T |
C |
8: 86,238,953 (GRCm39) |
V262A |
probably benign |
Het |
| Hecw2 |
A |
G |
1: 53,869,896 (GRCm39) |
V1444A |
probably damaging |
Het |
| Herc1 |
T |
C |
9: 66,391,248 (GRCm39) |
V4017A |
probably benign |
Het |
| Klhl17 |
T |
C |
4: 156,318,147 (GRCm39) |
T129A |
possibly damaging |
Het |
| Krt84 |
T |
G |
15: 101,437,170 (GRCm39) |
D331A |
probably damaging |
Het |
| Lrrc9 |
C |
T |
12: 72,533,017 (GRCm39) |
T963M |
possibly damaging |
Het |
| Mtcl1 |
C |
T |
17: 66,651,314 (GRCm39) |
V935I |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,754,086 (GRCm38) |
G1321R |
probably benign |
Het |
| Myocd |
T |
C |
11: 65,071,770 (GRCm39) |
|
probably null |
Het |
| Nid1 |
A |
G |
13: 13,650,977 (GRCm39) |
N505D |
probably damaging |
Het |
| Ninj1 |
A |
T |
13: 49,347,210 (GRCm39) |
|
probably null |
Het |
| Or14a260 |
C |
T |
7: 85,985,269 (GRCm39) |
V112I |
probably benign |
Het |
| Or1x6 |
C |
A |
11: 50,939,227 (GRCm39) |
Q98K |
probably benign |
Het |
| Or4d10c |
A |
T |
19: 12,065,357 (GRCm39) |
D266E |
probably benign |
Het |
| Plscr2 |
T |
A |
9: 92,172,685 (GRCm39) |
|
probably benign |
Het |
| Ppfia2 |
A |
G |
10: 106,655,353 (GRCm39) |
T307A |
probably benign |
Het |
| Sart3 |
T |
C |
5: 113,884,730 (GRCm39) |
R625G |
probably benign |
Het |
| Sohlh2 |
T |
A |
3: 55,115,236 (GRCm39) |
L407H |
probably damaging |
Het |
| Sorcs1 |
A |
G |
19: 50,178,492 (GRCm39) |
S877P |
probably damaging |
Het |
| Stat1 |
T |
C |
1: 52,161,754 (GRCm39) |
M1T |
probably null |
Het |
| Szt2 |
C |
T |
4: 118,241,447 (GRCm39) |
|
probably benign |
Het |
| Tars3 |
G |
T |
7: 65,302,007 (GRCm39) |
|
probably null |
Het |
| Terb2 |
T |
A |
2: 122,028,867 (GRCm39) |
S141R |
probably benign |
Het |
| Tgfbrap1 |
T |
C |
1: 43,099,283 (GRCm39) |
Y177C |
probably damaging |
Het |
| Trappc9 |
A |
T |
15: 72,897,875 (GRCm39) |
I169N |
possibly damaging |
Het |
| Trim47 |
A |
G |
11: 115,997,020 (GRCm39) |
L578P |
probably damaging |
Het |
| Usp34 |
G |
A |
11: 23,386,020 (GRCm39) |
R2149H |
probably damaging |
Het |
| Vmn2r90 |
T |
C |
17: 17,953,758 (GRCm39) |
S641P |
probably benign |
Het |
| Vwa5a |
T |
A |
9: 38,649,110 (GRCm39) |
|
probably null |
Het |
| Zzef1 |
T |
A |
11: 72,765,952 (GRCm39) |
I1493N |
probably benign |
Het |
|
| Other mutations in Bpi |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02752:Bpi
|
APN |
2 |
158,104,344 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2011-07-12 |
Incidental Mutation