Incidental Mutation 'R3609:Bpifc'
ID |
269188 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bpifc
|
Ensembl Gene |
ENSMUSG00000050108 |
Gene Name |
BPI fold containing family C |
Synonyms |
Bpil2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R3609 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
85795555-85847724 bp(-) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
A to T
at 85836502 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100941
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061699]
[ENSMUST00000105304]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000061699
AA Change: M1K
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000063107 Gene: ENSMUSG00000050108 AA Change: M1K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
BPI1
|
33 |
257 |
8.89e-23 |
SMART |
BPI2
|
272 |
474 |
2.29e-25 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000105304
AA Change: M1K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000100941 Gene: ENSMUSG00000050108 AA Change: M1K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
SCOP:d1ewfa1
|
26 |
82 |
2e-13 |
SMART |
Blast:BPI1
|
33 |
82 |
7e-27 |
BLAST |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cc2d2a |
A |
T |
5: 43,869,668 (GRCm39) |
E856D |
probably damaging |
Het |
Ces1c |
A |
T |
8: 93,846,960 (GRCm39) |
I98N |
probably damaging |
Het |
Clec4b1 |
T |
A |
6: 123,027,591 (GRCm39) |
L16Q |
probably damaging |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Dop1b |
A |
G |
16: 93,536,220 (GRCm39) |
Y106C |
probably damaging |
Het |
Irak3 |
G |
T |
10: 119,981,582 (GRCm39) |
T441K |
possibly damaging |
Het |
Kif18a |
A |
C |
2: 109,168,941 (GRCm39) |
D833A |
probably benign |
Het |
Lypd8l |
G |
A |
11: 58,503,384 (GRCm39) |
T48I |
possibly damaging |
Het |
Morc2b |
A |
G |
17: 33,355,252 (GRCm39) |
V840A |
probably damaging |
Het |
Or4a47 |
A |
G |
2: 89,665,420 (GRCm39) |
S290P |
probably damaging |
Het |
Or5al1 |
G |
A |
2: 85,989,976 (GRCm39) |
T246I |
probably benign |
Het |
Or5p57 |
A |
G |
7: 107,665,576 (GRCm39) |
F143S |
probably damaging |
Het |
Or8k23 |
G |
C |
2: 86,185,826 (GRCm39) |
A300G |
probably damaging |
Het |
Pgap6 |
G |
A |
17: 26,337,860 (GRCm39) |
V415I |
probably benign |
Het |
Rest |
A |
C |
5: 77,430,647 (GRCm39) |
N1022T |
probably benign |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Tsc2 |
A |
C |
17: 24,841,524 (GRCm39) |
I365S |
possibly damaging |
Het |
Ttn |
C |
T |
2: 76,589,603 (GRCm39) |
R21217H |
probably damaging |
Het |
Vim |
A |
T |
2: 13,583,437 (GRCm39) |
H253L |
possibly damaging |
Het |
Vmn2r71 |
T |
A |
7: 85,268,870 (GRCm39) |
C358S |
probably damaging |
Het |
|
Other mutations in Bpifc |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00264:Bpifc
|
APN |
10 |
85,796,392 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL01474:Bpifc
|
APN |
10 |
85,836,503 (GRCm39) |
start codon destroyed |
probably damaging |
0.98 |
IGL02437:Bpifc
|
APN |
10 |
85,824,595 (GRCm39) |
missense |
probably damaging |
1.00 |
R0689:Bpifc
|
UTSW |
10 |
85,796,411 (GRCm39) |
splice site |
probably benign |
|
R1205:Bpifc
|
UTSW |
10 |
85,817,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R1524:Bpifc
|
UTSW |
10 |
85,813,599 (GRCm39) |
missense |
probably benign |
0.01 |
R2033:Bpifc
|
UTSW |
10 |
85,836,496 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3103:Bpifc
|
UTSW |
10 |
85,829,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R3874:Bpifc
|
UTSW |
10 |
85,827,118 (GRCm39) |
missense |
probably benign |
|
R4728:Bpifc
|
UTSW |
10 |
85,827,063 (GRCm39) |
missense |
possibly damaging |
0.50 |
R5079:Bpifc
|
UTSW |
10 |
85,817,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R5193:Bpifc
|
UTSW |
10 |
85,836,497 (GRCm39) |
missense |
probably benign |
0.01 |
R6280:Bpifc
|
UTSW |
10 |
85,813,576 (GRCm39) |
missense |
probably benign |
0.02 |
R6291:Bpifc
|
UTSW |
10 |
85,812,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R6945:Bpifc
|
UTSW |
10 |
85,815,078 (GRCm39) |
missense |
probably benign |
0.00 |
R7288:Bpifc
|
UTSW |
10 |
85,824,585 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7310:Bpifc
|
UTSW |
10 |
85,798,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R7463:Bpifc
|
UTSW |
10 |
85,815,198 (GRCm39) |
missense |
probably benign |
0.00 |
R7807:Bpifc
|
UTSW |
10 |
85,812,114 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8004:Bpifc
|
UTSW |
10 |
85,815,148 (GRCm39) |
missense |
probably benign |
|
R8225:Bpifc
|
UTSW |
10 |
85,836,431 (GRCm39) |
missense |
probably benign |
0.00 |
R8284:Bpifc
|
UTSW |
10 |
85,836,413 (GRCm39) |
missense |
probably benign |
0.00 |
R8364:Bpifc
|
UTSW |
10 |
85,797,891 (GRCm39) |
missense |
probably damaging |
0.99 |
R8770:Bpifc
|
UTSW |
10 |
85,801,129 (GRCm39) |
missense |
probably damaging |
1.00 |
R9427:Bpifc
|
UTSW |
10 |
85,812,129 (GRCm39) |
missense |
probably benign |
|
R9482:Bpifc
|
UTSW |
10 |
85,815,118 (GRCm39) |
missense |
possibly damaging |
0.68 |
Z1176:Bpifc
|
UTSW |
10 |
85,801,092 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- CACATCCATGCAGGTAGACCTC -3'
(R):5'- TGACTCCTGAATGGATGCATAAG -3'
Sequencing Primer
(F):5'- CATGCAGGTAGACCTCAGATCTG -3'
(R):5'- CCTGAATGGATGCATAAGTGGGTC -3'
|
Posted On |
2015-02-19 |