Incidental Mutation 'IGL01474:Bpifc'
| ID |
88390 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01474
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
85795555-85847724 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to A
at 85836503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 1
(M1L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100941
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061699]
[ENSMUST00000105304]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061699
AA Change: M1L
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000063107
Gene: ENSMUSG00000050108
AA Change: M1L
| 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 damaging
Transcript: ENSMUST00000105304
AA Change: M1L
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000100941
Gene: ENSMUSG00000050108
AA Change: M1L
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot12 |
A |
T |
13: 91,920,902 (GRCm39) |
K336I |
possibly damaging |
Het |
| Acsbg2 |
A |
G |
17: 57,168,621 (GRCm39) |
I166T |
possibly damaging |
Het |
| Adrm1b |
G |
T |
3: 92,335,650 (GRCm39) |
Q351K |
probably damaging |
Het |
| Ccnb2 |
T |
A |
9: 70,326,305 (GRCm39) |
N44I |
probably benign |
Het |
| Cdc73 |
C |
T |
1: 143,547,070 (GRCm39) |
V276M |
probably benign |
Het |
| Cnot7 |
A |
G |
8: 40,960,490 (GRCm39) |
|
probably null |
Het |
| Col11a1 |
T |
A |
3: 114,010,783 (GRCm39) |
|
probably benign |
Het |
| Coro1c |
T |
C |
5: 114,020,216 (GRCm39) |
|
probably benign |
Het |
| Crocc |
A |
G |
4: 140,762,703 (GRCm39) |
|
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,102,493 (GRCm39) |
Y396N |
probably benign |
Het |
| Gm2888 |
T |
A |
14: 3,032,041 (GRCm38) |
D116E |
probably damaging |
Het |
| Gm29326 |
A |
T |
7: 29,262,014 (GRCm39) |
|
noncoding transcript |
Het |
| Greb1 |
A |
G |
12: 16,734,502 (GRCm39) |
V1496A |
probably benign |
Het |
| H2bc18 |
A |
G |
3: 96,177,125 (GRCm39) |
|
probably benign |
Het |
| Hdac7 |
A |
G |
15: 97,695,820 (GRCm39) |
|
probably null |
Het |
| Hectd4 |
A |
G |
5: 121,474,712 (GRCm39) |
T2778A |
possibly damaging |
Het |
| Hivep2 |
A |
T |
10: 14,019,406 (GRCm39) |
H2059L |
probably damaging |
Het |
| Ift88 |
A |
T |
14: 57,715,531 (GRCm39) |
I525F |
probably benign |
Het |
| Irag1 |
A |
T |
7: 110,470,640 (GRCm39) |
S898T |
possibly damaging |
Het |
| Itga5 |
G |
A |
15: 103,262,697 (GRCm39) |
Q324* |
probably null |
Het |
| Klhl14 |
T |
G |
18: 21,690,911 (GRCm39) |
H513P |
probably damaging |
Het |
| Lama5 |
A |
T |
2: 179,838,363 (GRCm39) |
D837E |
probably damaging |
Het |
| Muc6 |
C |
A |
7: 141,237,572 (GRCm39) |
C215F |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,952,461 (GRCm39) |
K844E |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,218,917 (GRCm39) |
V31A |
unknown |
Het |
| Nipbl |
A |
G |
15: 8,340,693 (GRCm39) |
I2009T |
possibly damaging |
Het |
| Or2ag18 |
A |
G |
7: 106,405,147 (GRCm39) |
I174T |
probably benign |
Het |
| Piwil2 |
T |
C |
14: 70,635,667 (GRCm39) |
R536G |
probably benign |
Het |
| Pld3 |
A |
G |
7: 27,232,044 (GRCm39) |
V412A |
probably damaging |
Het |
| Prkaa2 |
A |
C |
4: 104,906,529 (GRCm39) |
|
probably null |
Het |
| Rdh9 |
T |
C |
10: 127,626,814 (GRCm39) |
L289P |
probably damaging |
Het |
| Rusc2 |
C |
T |
4: 43,416,434 (GRCm39) |
S580L |
probably damaging |
Het |
| Sidt2 |
A |
G |
9: 45,858,280 (GRCm39) |
|
probably null |
Het |
| Slc18b1 |
A |
T |
10: 23,679,748 (GRCm39) |
K92N |
probably benign |
Het |
| Slc20a2 |
G |
A |
8: 23,025,573 (GRCm39) |
V92M |
possibly damaging |
Het |
| Slc4a11 |
A |
T |
2: 130,527,464 (GRCm39) |
F644I |
probably damaging |
Het |
| Spata31d1d |
A |
T |
13: 59,878,029 (GRCm39) |
|
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,663,244 (GRCm39) |
M846V |
probably benign |
Het |
| Syncrip |
T |
C |
9: 88,362,800 (GRCm39) |
T3A |
probably benign |
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 |
|
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 |
|
R3609:Bpifc
|
UTSW |
10 |
85,836,502 (GRCm39) |
start codon destroyed |
probably null |
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 |
|
| Posted On |
2013-11-18 |
Incidental Mutation