Incidental Mutation 'R0580:Bpi'
ID |
56381 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bpi
|
Ensembl Gene |
ENSMUSG00000052922 |
Gene Name |
bactericidal permeablility increasing protein |
Synonyms |
Bpifd1, 9230105K17Rik |
MMRRC Submission |
038770-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0580 (G1)
|
Quality Score |
86 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
158100014-158126451 bp(+) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
A to T
at 158100215 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 1
(M1L)
|
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: M1L
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000067837 Gene: ENSMUSG00000052922 AA Change: M1L
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: M1L
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000105125 Gene: ENSMUSG00000052922 AA Change: M1L
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: M1L
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000105126 Gene: ENSMUSG00000052922 AA Change: M1L
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 |
|
Meta Mutation Damage Score |
0.1631 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 93.7%
|
Validation Efficiency |
95% (40/42) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm3 |
T |
A |
3: 59,784,470 (GRCm39) |
D314E |
probably damaging |
Het |
Abcc10 |
C |
T |
17: 46,616,882 (GRCm39) |
|
probably null |
Het |
Adgrg5 |
T |
C |
8: 95,663,972 (GRCm39) |
|
probably null |
Het |
Akap12 |
A |
T |
10: 4,304,741 (GRCm39) |
D517V |
possibly damaging |
Het |
Arhgap23 |
AGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGG |
11: 97,337,362 (GRCm39) |
|
probably null |
Het |
Carm1 |
C |
T |
9: 21,494,880 (GRCm39) |
P339S |
probably damaging |
Het |
Chchd3 |
A |
C |
6: 32,870,325 (GRCm39) |
|
probably null |
Het |
Chd9 |
T |
C |
8: 91,721,191 (GRCm39) |
V520A |
possibly damaging |
Het |
Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
Col10a1 |
A |
G |
10: 34,270,948 (GRCm39) |
R307G |
probably benign |
Het |
Cpeb3 |
T |
C |
19: 37,151,435 (GRCm39) |
T314A |
probably benign |
Het |
Csmd1 |
A |
T |
8: 15,960,528 (GRCm39) |
Y3296N |
probably damaging |
Het |
Dtx2 |
A |
T |
5: 136,061,180 (GRCm39) |
T521S |
probably damaging |
Het |
Ext2 |
A |
T |
2: 93,626,070 (GRCm39) |
V330E |
probably benign |
Het |
Extl3 |
A |
G |
14: 65,313,178 (GRCm39) |
L668P |
probably damaging |
Het |
Gm6605 |
C |
A |
7: 38,147,699 (GRCm39) |
|
noncoding transcript |
Het |
Grm8 |
A |
G |
6: 27,761,370 (GRCm39) |
|
probably benign |
Het |
Herc2 |
T |
A |
7: 55,788,539 (GRCm39) |
V1763D |
probably damaging |
Het |
Ino80 |
G |
A |
2: 119,213,962 (GRCm39) |
P1203S |
probably damaging |
Het |
Iqce |
A |
G |
5: 140,651,156 (GRCm39) |
F768L |
possibly damaging |
Het |
Kntc1 |
G |
A |
5: 123,941,732 (GRCm39) |
V1809I |
probably benign |
Het |
Lyzl1 |
A |
C |
18: 4,181,134 (GRCm39) |
T58P |
probably damaging |
Het |
Mlxipl |
A |
G |
5: 135,152,829 (GRCm39) |
T287A |
probably benign |
Het |
Mroh2a |
G |
A |
1: 88,171,672 (GRCm39) |
R770Q |
probably damaging |
Het |
Net1 |
A |
G |
13: 3,936,612 (GRCm39) |
Y264H |
probably damaging |
Het |
Nnmt |
T |
C |
9: 48,503,600 (GRCm39) |
D142G |
probably damaging |
Het |
Nod2 |
T |
A |
8: 89,391,034 (GRCm39) |
I432N |
probably damaging |
Het |
Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
Or2y1g |
T |
A |
11: 49,171,449 (GRCm39) |
I158N |
probably damaging |
Het |
Or6b6 |
A |
G |
7: 106,571,447 (GRCm39) |
Y35H |
probably damaging |
Het |
Pign |
A |
C |
1: 105,519,419 (GRCm39) |
I501S |
probably benign |
Het |
Scgb2b19 |
A |
T |
7: 32,977,995 (GRCm39) |
S101T |
probably benign |
Het |
Slc7a5 |
A |
T |
8: 122,611,855 (GRCm39) |
M391K |
probably benign |
Het |
Sptan1 |
A |
G |
2: 29,897,587 (GRCm39) |
R1217G |
probably damaging |
Het |
Srgap2 |
A |
G |
1: 131,277,239 (GRCm39) |
V336A |
possibly damaging |
Het |
Srsf11 |
C |
T |
3: 157,717,704 (GRCm39) |
|
probably benign |
Het |
Syt10 |
A |
T |
15: 89,711,379 (GRCm39) |
D51E |
probably benign |
Het |
Vmn2r96 |
T |
C |
17: 18,802,900 (GRCm39) |
V270A |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTAGGAAGAGGAATCCGTCCCAGAG -3'
(R):5'- AGGCATCCGATTTAAAGGGCTGTG -3'
Sequencing Primer
(F):5'- ACAGGTCTCAACAGGCTCG -3'
(R):5'- ACCCTAAGTGCCCTGTCAG -3'
|
Posted On |
2013-07-11 |