Incidental Mutation 'R5505:Bpifb1'
| ID |
430866 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bpifb1
|
| Ensembl Gene |
ENSMUSG00000027485 |
| Gene Name |
BPI fold containing family B, member 1 |
| Synonyms |
U46068, LPlunc1, von Ebner minor salivary protein |
| MMRRC Submission |
043066-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5505 (G1)
|
| Quality Score |
223 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
154032738-154062263 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 154046699 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 73
(D73G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080501
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028987]
[ENSMUST00000081816]
|
| AlphaFold |
Q61114 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028987
AA Change: D73G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000028987
Gene: ENSMUSG00000027485
AA Change: D73G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
BPI1
|
36 |
256 |
3.3e-40 |
SMART |
|
Pfam:LBP_BPI_CETP_C
|
331 |
470 |
1.6e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081816
AA Change: D73G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000080501
Gene: ENSMUSG00000027485
AA Change: D73G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
BPI1
|
36 |
256 |
3.3e-40 |
SMART |
|
Pfam:LBP_BPI_CETP_C
|
331 |
470 |
1.6e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123017
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.9%
|
| Validation Efficiency |
98% (47/48) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may be involved in the innate immune response to bacterial exposure in the mouth, nasal cavities, and lungs. The encoded protein is secreted and is a member of the BPI/LBP/PLUNC protein superfamily. This gene is found with other members of the superfamily in a cluster on chromosome 20. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit strain background sensitive transmission ratio distortion and increased basal MUC5B production. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
T |
A |
5: 24,606,036 (GRCm39) |
D240E |
probably damaging |
Het |
| Alpk3 |
G |
A |
7: 80,728,309 (GRCm39) |
E480K |
possibly damaging |
Het |
| Arhgap20 |
A |
G |
9: 51,750,248 (GRCm39) |
E372G |
probably damaging |
Het |
| Atp23 |
G |
T |
10: 126,723,499 (GRCm39) |
A201D |
probably damaging |
Het |
| Ccdc7a |
A |
G |
8: 129,706,655 (GRCm39) |
S325P |
possibly damaging |
Het |
| Cckar |
A |
G |
5: 53,860,410 (GRCm39) |
Y140H |
probably damaging |
Het |
| Cd46 |
A |
T |
1: 194,767,688 (GRCm39) |
D124E |
possibly damaging |
Het |
| Cep290 |
T |
C |
10: 100,335,048 (GRCm39) |
|
probably null |
Het |
| Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
| Eif2ak1 |
T |
C |
5: 143,803,745 (GRCm39) |
S34P |
probably benign |
Het |
| Enah |
T |
A |
1: 181,734,018 (GRCm39) |
|
probably benign |
Het |
| Gad2 |
C |
G |
2: 22,514,845 (GRCm39) |
L108V |
probably benign |
Het |
| Gpr22 |
T |
C |
12: 31,759,724 (GRCm39) |
I133V |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,903,187 (GRCm39) |
T13A |
probably benign |
Het |
| Ighv1-4 |
A |
G |
12: 114,451,057 (GRCm39) |
V17A |
possibly damaging |
Het |
| Ints8 |
T |
A |
4: 11,221,143 (GRCm39) |
Q744L |
probably benign |
Het |
| Lrit3 |
C |
T |
3: 129,585,087 (GRCm39) |
V224I |
possibly damaging |
Het |
| Mgat4a |
T |
C |
1: 37,535,035 (GRCm39) |
I108V |
probably benign |
Het |
| Mmp9 |
T |
C |
2: 164,795,528 (GRCm39) |
I682T |
probably benign |
Het |
| Myh7b |
G |
A |
2: 155,474,592 (GRCm39) |
A1742T |
probably benign |
Het |
| Nlrp12 |
C |
T |
7: 3,298,015 (GRCm39) |
G52D |
probably damaging |
Het |
| Or5t9 |
T |
C |
2: 86,659,845 (GRCm39) |
F250L |
possibly damaging |
Het |
| Pcnx1 |
T |
C |
12: 81,996,927 (GRCm39) |
L941P |
probably damaging |
Het |
| Pla2g4e |
T |
C |
2: 120,075,256 (GRCm39) |
R45G |
probably benign |
Het |
| Plcz1 |
C |
G |
6: 139,961,942 (GRCm39) |
G203A |
probably damaging |
Het |
| Poldip2 |
A |
G |
11: 78,406,001 (GRCm39) |
T76A |
probably benign |
Het |
| Prdm15 |
T |
A |
16: 97,618,183 (GRCm39) |
H325L |
possibly damaging |
Het |
| Ralyl |
A |
T |
3: 13,841,980 (GRCm39) |
I39F |
probably damaging |
Het |
| Rnf220 |
A |
C |
4: 117,153,288 (GRCm39) |
|
probably benign |
Het |
| Rnpc3 |
T |
C |
3: 113,409,102 (GRCm39) |
K318E |
probably damaging |
Het |
| Rsbn1 |
T |
A |
3: 103,836,259 (GRCm39) |
N432K |
probably damaging |
Het |
| Sh3yl1 |
T |
A |
12: 30,992,072 (GRCm39) |
Y176N |
probably damaging |
Het |
| Slc25a30 |
G |
A |
14: 76,000,789 (GRCm39) |
L272F |
probably damaging |
Het |
| Spag1 |
T |
C |
15: 36,234,772 (GRCm39) |
V844A |
probably damaging |
Het |
| Srsf5 |
T |
C |
12: 80,995,857 (GRCm39) |
|
probably benign |
Het |
| Tle2 |
T |
A |
10: 81,417,574 (GRCm39) |
D223E |
probably benign |
Het |
| Tmem192 |
A |
G |
8: 65,416,898 (GRCm39) |
E39G |
possibly damaging |
Het |
| Trpc6 |
T |
A |
9: 8,626,736 (GRCm39) |
L362H |
probably damaging |
Het |
| Tuba4a |
A |
G |
1: 75,193,060 (GRCm39) |
Y185H |
probably damaging |
Het |
| Uba6 |
A |
G |
5: 86,268,405 (GRCm39) |
V941A |
probably benign |
Het |
| Vmn2r35 |
A |
T |
7: 7,789,479 (GRCm39) |
Y753N |
probably damaging |
Het |
| Zfp941 |
C |
T |
7: 140,391,830 (GRCm39) |
V510I |
probably benign |
Het |
|
| Other mutations in Bpifb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00424:Bpifb1
|
APN |
2 |
154,059,087 (GRCm39) |
splice site |
probably benign |
|
|
IGL01516:Bpifb1
|
APN |
2 |
154,060,172 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02047:Bpifb1
|
APN |
2 |
154,044,536 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
IGL02143:Bpifb1
|
APN |
2 |
154,051,849 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL03174:Bpifb1
|
APN |
2 |
154,054,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03263:Bpifb1
|
APN |
2 |
154,057,226 (GRCm39) |
missense |
probably benign |
0.03 |
|
Ectoplasm
|
UTSW |
2 |
154,053,501 (GRCm39) |
nonsense |
probably null |
|
|
R0058:Bpifb1
|
UTSW |
2 |
154,048,460 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0269:Bpifb1
|
UTSW |
2 |
154,054,867 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0617:Bpifb1
|
UTSW |
2 |
154,054,867 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0786:Bpifb1
|
UTSW |
2 |
154,044,581 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1718:Bpifb1
|
UTSW |
2 |
154,055,903 (GRCm39) |
splice site |
probably null |
|
|
R3605:Bpifb1
|
UTSW |
2 |
154,053,485 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R3607:Bpifb1
|
UTSW |
2 |
154,053,485 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R3689:Bpifb1
|
UTSW |
2 |
154,051,819 (GRCm39) |
missense |
probably benign |
0.42 |
|
R3807:Bpifb1
|
UTSW |
2 |
154,055,922 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3930:Bpifb1
|
UTSW |
2 |
154,057,242 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4024:Bpifb1
|
UTSW |
2 |
154,054,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4745:Bpifb1
|
UTSW |
2 |
154,053,501 (GRCm39) |
nonsense |
probably null |
|
|
R4752:Bpifb1
|
UTSW |
2 |
154,058,200 (GRCm39) |
intron |
probably benign |
|
|
R5724:Bpifb1
|
UTSW |
2 |
154,046,712 (GRCm39) |
missense |
probably benign |
|
|
R6281:Bpifb1
|
UTSW |
2 |
154,048,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7038:Bpifb1
|
UTSW |
2 |
154,044,589 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7246:Bpifb1
|
UTSW |
2 |
154,049,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7540:Bpifb1
|
UTSW |
2 |
154,055,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7599:Bpifb1
|
UTSW |
2 |
154,056,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7678:Bpifb1
|
UTSW |
2 |
154,044,649 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7811:Bpifb1
|
UTSW |
2 |
154,048,484 (GRCm39) |
splice site |
probably null |
|
|
R9031:Bpifb1
|
UTSW |
2 |
154,051,848 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9120:Bpifb1
|
UTSW |
2 |
154,046,692 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCACTACTATGCTGTCCC -3'
(R):5'- GGAACCTTCCTAAGTGGCTTC -3'
Sequencing Primer
(F):5'- ACTATGCTGTCCCGCCCC -3'
(R):5'- AGTGACACTGCCTTATGGAC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation