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 |
85959340-86011895 bp(-) (GRCm38) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to A
at 86000639 bp (GRCm38)
|
| 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: 91,772,783 (GRCm38) |
K336I |
possibly damaging |
Het |
| Acsbg2 |
A |
G |
17: 56,861,621 (GRCm38) |
I166T |
possibly damaging |
Het |
| Adrm1b |
G |
T |
3: 92,428,343 (GRCm38) |
Q351K |
probably damaging |
Het |
| Ccnb2 |
T |
A |
9: 70,419,023 (GRCm38) |
N44I |
probably benign |
Het |
| Cdc73 |
C |
T |
1: 143,671,332 (GRCm38) |
V276M |
probably benign |
Het |
| Cnot7 |
A |
G |
8: 40,507,449 (GRCm38) |
|
probably null |
Het |
| Col11a1 |
T |
A |
3: 114,217,134 (GRCm38) |
|
probably benign |
Het |
| Coro1c |
T |
C |
5: 113,882,155 (GRCm38) |
|
probably benign |
Het |
| Crocc |
A |
G |
4: 141,035,392 (GRCm38) |
|
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,102,493 (GRCm38) |
Y396N |
probably benign |
Het |
| Gm2888 |
T |
A |
14: 3,032,041 (GRCm38) |
D116E |
probably damaging |
Het |
| Gm29326 |
A |
T |
7: 29,562,589 (GRCm38) |
|
noncoding transcript |
Het |
| Greb1 |
A |
G |
12: 16,684,501 (GRCm38) |
V1496A |
probably benign |
Het |
| H2bc18 |
A |
G |
3: 96,269,809 (GRCm38) |
|
probably benign |
Het |
| Hdac7 |
A |
G |
15: 97,797,939 (GRCm38) |
|
probably null |
Het |
| Hectd4 |
A |
G |
5: 121,336,649 (GRCm38) |
T2778A |
possibly damaging |
Het |
| Hivep2 |
A |
T |
10: 14,143,662 (GRCm38) |
H2059L |
probably damaging |
Het |
| Ift88 |
A |
T |
14: 57,478,074 (GRCm38) |
I525F |
probably benign |
Het |
| Irag1 |
A |
T |
7: 110,871,433 (GRCm38) |
S898T |
possibly damaging |
Het |
| Itga5 |
G |
A |
15: 103,354,270 (GRCm38) |
Q324* |
probably null |
Het |
| Klhl14 |
T |
G |
18: 21,557,854 (GRCm38) |
H513P |
probably damaging |
Het |
| Lama5 |
A |
T |
2: 180,196,570 (GRCm38) |
D837E |
probably damaging |
Het |
| Muc6 |
C |
A |
7: 141,651,307 (GRCm38) |
C215F |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 49,132,098 (GRCm38) |
K844E |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,328,905 (GRCm38) |
V31A |
unknown |
Het |
| Nipbl |
A |
G |
15: 8,311,209 (GRCm38) |
I2009T |
possibly damaging |
Het |
| Or2ag18 |
A |
G |
7: 106,805,940 (GRCm38) |
I174T |
probably benign |
Het |
| Piwil2 |
T |
C |
14: 70,398,218 (GRCm38) |
R536G |
probably benign |
Het |
| Pld3 |
A |
G |
7: 27,532,619 (GRCm38) |
V412A |
probably damaging |
Het |
| Prkaa2 |
A |
C |
4: 105,049,332 (GRCm38) |
|
probably null |
Het |
| Rdh9 |
T |
C |
10: 127,790,945 (GRCm38) |
L289P |
probably damaging |
Het |
| Rusc2 |
C |
T |
4: 43,416,434 (GRCm38) |
S580L |
probably damaging |
Het |
| Sidt2 |
A |
G |
9: 45,946,982 (GRCm38) |
|
probably null |
Het |
| Slc18b1 |
A |
T |
10: 23,803,850 (GRCm38) |
K92N |
probably benign |
Het |
| Slc20a2 |
G |
A |
8: 22,535,557 (GRCm38) |
V92M |
possibly damaging |
Het |
| Slc4a11 |
A |
T |
2: 130,685,544 (GRCm38) |
F644I |
probably damaging |
Het |
| Spata31d1d |
A |
T |
13: 59,730,215 (GRCm38) |
|
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,663,158 (GRCm38) |
M846V |
probably benign |
Het |
| Syncrip |
T |
C |
9: 88,480,747 (GRCm38) |
T3A |
probably benign |
Het |
|
| Other mutations in Bpifc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00264:Bpifc
|
APN |
10 |
85,960,528 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
IGL02437:Bpifc
|
APN |
10 |
85,988,731 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0689:Bpifc
|
UTSW |
10 |
85,960,547 (GRCm38) |
splice site |
probably benign |
|
|
R1205:Bpifc
|
UTSW |
10 |
85,981,304 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1524:Bpifc
|
UTSW |
10 |
85,977,735 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2033:Bpifc
|
UTSW |
10 |
86,000,632 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R3103:Bpifc
|
UTSW |
10 |
85,993,422 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3609:Bpifc
|
UTSW |
10 |
86,000,638 (GRCm38) |
start codon destroyed |
probably null |
1.00 |
|
R3874:Bpifc
|
UTSW |
10 |
85,991,254 (GRCm38) |
missense |
probably benign |
|
|
R4728:Bpifc
|
UTSW |
10 |
85,991,199 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R5079:Bpifc
|
UTSW |
10 |
85,981,304 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5193:Bpifc
|
UTSW |
10 |
86,000,633 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6280:Bpifc
|
UTSW |
10 |
85,977,712 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6291:Bpifc
|
UTSW |
10 |
85,976,258 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6945:Bpifc
|
UTSW |
10 |
85,979,214 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7288:Bpifc
|
UTSW |
10 |
85,988,721 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7310:Bpifc
|
UTSW |
10 |
85,963,027 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7463:Bpifc
|
UTSW |
10 |
85,979,334 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7807:Bpifc
|
UTSW |
10 |
85,976,250 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R8004:Bpifc
|
UTSW |
10 |
85,979,284 (GRCm38) |
missense |
probably benign |
|
|
R8225:Bpifc
|
UTSW |
10 |
86,000,567 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8284:Bpifc
|
UTSW |
10 |
86,000,549 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8364:Bpifc
|
UTSW |
10 |
85,962,027 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8770:Bpifc
|
UTSW |
10 |
85,965,265 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9427:Bpifc
|
UTSW |
10 |
85,976,265 (GRCm38) |
missense |
probably benign |
|
|
R9482:Bpifc
|
UTSW |
10 |
85,979,254 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
Z1176:Bpifc
|
UTSW |
10 |
85,965,228 (GRCm38) |
missense |
probably benign |
0.01 |
|
| Posted On |
2013-11-18 |
Incidental Mutation