Incidental Mutation 'IGL00264:Bpifc'
| ID |
6097 |
| 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 # |
IGL00264
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
85795555-85847724 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 85796392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 472
(V472G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063107
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001834]
[ENSMUST00000061699]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001834
|
| SMART Domains |
Protein: ENSMUSP00000001834
Gene: ENSMUSG00000001783
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RtcB
|
61 |
505 |
3.3e-143 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061699
AA Change: V472G
PolyPhen 2
Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000063107
Gene: ENSMUSG00000050108
AA Change: V472G
| 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 |
noncoding transcript
Transcript: ENSMUST00000139413
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3 |
T |
G |
1: 125,324,966 (GRCm39) |
I319L |
probably benign |
Het |
| Akap7 |
C |
T |
10: 25,047,138 (GRCm39) |
D20N |
probably benign |
Het |
| Ambra1 |
T |
A |
2: 91,741,934 (GRCm39) |
S1070T |
probably benign |
Het |
| Arhgef9 |
T |
C |
X: 94,125,237 (GRCm39) |
|
probably null |
Het |
| Ascc3 |
T |
G |
10: 50,590,531 (GRCm39) |
V1083G |
probably damaging |
Het |
| Asns |
T |
A |
6: 7,680,179 (GRCm39) |
E312D |
probably damaging |
Het |
| Ccdc71 |
T |
A |
9: 108,340,237 (GRCm39) |
S17T |
probably damaging |
Het |
| Cebpzos |
T |
C |
17: 79,225,777 (GRCm39) |
|
probably benign |
Het |
| Cfi |
T |
C |
3: 129,666,744 (GRCm39) |
I489T |
probably damaging |
Het |
| Chrm2 |
T |
A |
6: 36,500,326 (GRCm39) |
F61Y |
probably damaging |
Het |
| Cpxm1 |
T |
C |
2: 130,237,863 (GRCm39) |
Y149C |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,172,720 (GRCm39) |
I246T |
probably benign |
Het |
| Ereg |
C |
A |
5: 91,222,638 (GRCm39) |
S7Y |
probably benign |
Het |
| Ghsr |
T |
A |
3: 27,429,022 (GRCm39) |
L349Q |
possibly damaging |
Het |
| Gm10754 |
A |
G |
10: 97,518,274 (GRCm39) |
|
probably benign |
Het |
| Gm8237 |
A |
T |
14: 5,864,475 (GRCm38) |
L29H |
probably benign |
Het |
| Hexim2 |
A |
G |
11: 103,029,281 (GRCm39) |
E111G |
probably damaging |
Het |
| Itga1 |
A |
T |
13: 115,128,899 (GRCm39) |
N586K |
possibly damaging |
Het |
| Kat6b |
A |
G |
14: 21,718,627 (GRCm39) |
D1102G |
probably benign |
Het |
| Kif27 |
A |
T |
13: 58,485,418 (GRCm39) |
M514K |
probably benign |
Het |
| Matn2 |
T |
C |
15: 34,428,616 (GRCm39) |
I660T |
probably damaging |
Het |
| Mki67 |
C |
A |
7: 135,309,549 (GRCm39) |
G301* |
probably null |
Het |
| Or13a25 |
T |
A |
7: 140,247,854 (GRCm39) |
I211N |
probably benign |
Het |
| Or1l4b |
T |
C |
2: 37,037,079 (GRCm39) |
F285S |
probably damaging |
Het |
| Or5b121 |
A |
C |
19: 13,507,214 (GRCm39) |
Y103S |
probably damaging |
Het |
| Or5b99 |
A |
G |
19: 12,976,683 (GRCm39) |
Y111C |
probably damaging |
Het |
| Pcdhb8 |
A |
T |
18: 37,488,526 (GRCm39) |
H68L |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,354,425 (GRCm39) |
V272A |
possibly damaging |
Het |
| Pstpip2 |
T |
C |
18: 77,959,259 (GRCm39) |
|
probably benign |
Het |
| Rdh14 |
G |
T |
12: 10,441,134 (GRCm39) |
G99W |
probably damaging |
Het |
| Rmc1 |
T |
C |
18: 12,312,276 (GRCm39) |
V172A |
probably benign |
Het |
| Sra1 |
A |
T |
18: 36,801,792 (GRCm39) |
S99R |
probably benign |
Het |
| Tbrg1 |
G |
T |
9: 37,562,337 (GRCm39) |
N280K |
probably benign |
Het |
| Ugt8a |
A |
G |
3: 125,708,285 (GRCm39) |
|
probably null |
Het |
| Usp40 |
A |
T |
1: 87,931,960 (GRCm39) |
|
probably benign |
Het |
| Vmn1r45 |
T |
A |
6: 89,910,646 (GRCm39) |
Y108F |
probably damaging |
Het |
| Zfp521 |
A |
G |
18: 13,979,559 (GRCm39) |
Y285H |
probably benign |
Het |
|
| Other mutations in Bpifc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation