Incidental Mutation 'IGL02301:Bpi'
| ID |
290294 |
| 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 # |
IGL02301
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
158100014-158126451 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 158116734 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 377
(S377F)
|
| 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: S377F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067837
Gene: ENSMUSG00000052922
AA Change: S377F
| 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: S377F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105125
Gene: ENSMUSG00000052922
AA Change: S377F
| 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: S377F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105126
Gene: ENSMUSG00000052922
AA Change: S377F
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8l |
A |
G |
17: 32,551,900 (GRCm39) |
|
probably benign |
Het |
| Alk |
T |
C |
17: 72,181,171 (GRCm39) |
Q1373R |
probably damaging |
Het |
| Atf7ip2 |
T |
G |
16: 10,028,911 (GRCm39) |
S148A |
probably benign |
Het |
| Ccni |
A |
T |
5: 93,336,034 (GRCm39) |
C122S |
possibly damaging |
Het |
| Cd5l |
A |
G |
3: 87,273,300 (GRCm39) |
R90G |
probably benign |
Het |
| Ceacam3 |
C |
T |
7: 16,897,026 (GRCm39) |
S664F |
probably damaging |
Het |
| Clca3a2 |
A |
T |
3: 144,512,133 (GRCm39) |
D534E |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,822,826 (GRCm39) |
S2524R |
probably damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Gart |
A |
G |
16: 91,418,725 (GRCm39) |
|
probably benign |
Het |
| Gsdmc4 |
A |
G |
15: 63,767,113 (GRCm39) |
V219A |
probably benign |
Het |
| Hus1 |
T |
C |
11: 8,946,915 (GRCm39) |
T261A |
probably benign |
Het |
| Lman2l |
A |
G |
1: 36,482,624 (GRCm39) |
I84T |
probably damaging |
Het |
| Megf8 |
G |
A |
7: 25,037,325 (GRCm39) |
V742M |
probably damaging |
Het |
| Myo1d |
A |
G |
11: 80,567,679 (GRCm39) |
V267A |
probably benign |
Het |
| Notch2 |
A |
G |
3: 98,048,870 (GRCm39) |
T1803A |
probably benign |
Het |
| Or1e17 |
T |
A |
11: 73,831,894 (GRCm39) |
M274K |
possibly damaging |
Het |
| Or4f54 |
T |
A |
2: 111,123,042 (GRCm39) |
M143K |
probably benign |
Het |
| Or6c70 |
A |
G |
10: 129,709,948 (GRCm39) |
F226S |
probably damaging |
Het |
| Pate11 |
T |
C |
9: 36,388,483 (GRCm39) |
|
probably benign |
Het |
| Pde5a |
G |
A |
3: 122,554,534 (GRCm39) |
R208Q |
probably damaging |
Het |
| Pla2r1 |
T |
C |
2: 60,282,780 (GRCm39) |
N745S |
probably benign |
Het |
| Ptgdr2 |
T |
A |
19: 10,917,573 (GRCm39) |
I30N |
possibly damaging |
Het |
| Rap1gap2 |
G |
A |
11: 74,298,195 (GRCm39) |
T415I |
probably damaging |
Het |
| Slc6a6 |
T |
C |
6: 91,703,037 (GRCm39) |
Y137H |
probably benign |
Het |
| Sptbn1 |
A |
T |
11: 30,092,129 (GRCm39) |
D532E |
probably damaging |
Het |
| Stk39 |
T |
C |
2: 68,042,306 (GRCm39) |
D543G |
probably damaging |
Het |
| Trpc4 |
G |
A |
3: 54,198,653 (GRCm39) |
V526M |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,714,727 (GRCm39) |
I100V |
probably benign |
Het |
| Vmn1r-ps123 |
A |
C |
13: 23,180,527 (GRCm39) |
|
noncoding transcript |
Het |
| Vwa5b2 |
G |
A |
16: 20,423,540 (GRCm39) |
G1151D |
probably damaging |
Het |
| Zfp358 |
T |
A |
8: 3,546,858 (GRCm39) |
I480N |
probably benign |
Het |
| Zfp423 |
T |
C |
8: 88,508,202 (GRCm39) |
D714G |
probably damaging |
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 |
|
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 |
2015-04-16 |
Incidental Mutation