Incidental Mutation 'IGL02275:Bpifa6'
| ID |
287300 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bpifa6
|
| Ensembl Gene |
ENSMUSG00000078998 |
| Gene Name |
BPI fold containing family A, member 6 |
| Synonyms |
Gm5840 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
IGL02275
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
153816865-153842415 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 153834192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 328
(D328V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105375
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109753]
|
| AlphaFold |
Q0VGU8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109753
AA Change: D328V
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000105375
Gene: ENSMUSG00000078998
AA Change: D328V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:LBP_BPI_CETP
|
176 |
319 |
1.4e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700037C18Rik |
T |
A |
16: 3,724,146 (GRCm39) |
D130V |
probably damaging |
Het |
| 4930596D02Rik |
T |
C |
14: 35,533,880 (GRCm39) |
T9A |
probably benign |
Het |
| Anapc1 |
C |
A |
2: 128,501,772 (GRCm39) |
A757S |
probably benign |
Het |
| Cdh19 |
T |
A |
1: 110,853,616 (GRCm39) |
K275I |
probably benign |
Het |
| Col18a1 |
A |
G |
10: 76,895,217 (GRCm39) |
I1148T |
possibly damaging |
Het |
| Commd1 |
A |
T |
11: 22,850,017 (GRCm39) |
V222D |
probably damaging |
Het |
| Crim1 |
T |
A |
17: 78,677,427 (GRCm39) |
M876K |
possibly damaging |
Het |
| Dennd1b |
C |
A |
1: 139,008,992 (GRCm39) |
H232N |
probably damaging |
Het |
| Dhx57 |
T |
C |
17: 80,582,268 (GRCm39) |
T393A |
probably benign |
Het |
| Dnai7 |
T |
C |
6: 145,123,090 (GRCm39) |
Y592C |
probably damaging |
Het |
| Gabrb2 |
G |
T |
11: 42,482,721 (GRCm39) |
R193L |
probably benign |
Het |
| Gm5828 |
T |
A |
1: 16,839,342 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6483 |
C |
T |
8: 19,741,629 (GRCm39) |
P55S |
probably damaging |
Het |
| Hsp90ab1 |
T |
C |
17: 45,879,364 (GRCm39) |
Y619C |
possibly damaging |
Het |
| Kctd19 |
A |
G |
8: 106,123,006 (GRCm39) |
I136T |
probably damaging |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or2w6 |
A |
C |
13: 21,843,170 (GRCm39) |
F108V |
probably benign |
Het |
| Sel1l |
T |
C |
12: 91,781,789 (GRCm39) |
Y532C |
probably damaging |
Het |
| Sirpb1a |
A |
G |
3: 15,475,469 (GRCm39) |
|
probably null |
Het |
| Ush2a |
C |
T |
1: 187,995,466 (GRCm39) |
T79M |
possibly damaging |
Het |
| Usp24 |
T |
C |
4: 106,244,690 (GRCm39) |
V1215A |
probably damaging |
Het |
| Vdac3-ps1 |
T |
C |
13: 18,205,379 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r75 |
T |
C |
7: 85,814,348 (GRCm39) |
T382A |
probably benign |
Het |
| Vps53 |
T |
C |
11: 75,937,949 (GRCm39) |
Y728C |
probably benign |
Het |
|
| Other mutations in Bpifa6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00910:Bpifa6
|
APN |
2 |
153,832,386 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01805:Bpifa6
|
APN |
2 |
153,826,832 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02246:Bpifa6
|
APN |
2 |
153,831,196 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02405:Bpifa6
|
APN |
2 |
153,832,782 (GRCm39) |
nonsense |
probably null |
|
|
IGL02587:Bpifa6
|
APN |
2 |
153,831,130 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03365:Bpifa6
|
APN |
2 |
153,831,204 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
F6893:Bpifa6
|
UTSW |
2 |
153,829,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4976:Bpifa6
|
UTSW |
2 |
153,828,318 (GRCm39) |
missense |
probably benign |
|
|
FR4976:Bpifa6
|
UTSW |
2 |
153,828,296 (GRCm39) |
missense |
probably benign |
|
|
R0131:Bpifa6
|
UTSW |
2 |
153,824,851 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0131:Bpifa6
|
UTSW |
2 |
153,824,851 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0132:Bpifa6
|
UTSW |
2 |
153,824,851 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0799:Bpifa6
|
UTSW |
2 |
153,834,192 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1468:Bpifa6
|
UTSW |
2 |
153,831,192 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1468:Bpifa6
|
UTSW |
2 |
153,831,192 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1767:Bpifa6
|
UTSW |
2 |
153,829,147 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2255:Bpifa6
|
UTSW |
2 |
153,832,815 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2857:Bpifa6
|
UTSW |
2 |
153,831,194 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3430:Bpifa6
|
UTSW |
2 |
153,831,171 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4616:Bpifa6
|
UTSW |
2 |
153,824,908 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5420:Bpifa6
|
UTSW |
2 |
153,831,250 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6224:Bpifa6
|
UTSW |
2 |
153,829,073 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6483:Bpifa6
|
UTSW |
2 |
153,832,354 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6552:Bpifa6
|
UTSW |
2 |
153,829,078 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7061:Bpifa6
|
UTSW |
2 |
153,834,236 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7378:Bpifa6
|
UTSW |
2 |
153,828,353 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7472:Bpifa6
|
UTSW |
2 |
153,831,249 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8313:Bpifa6
|
UTSW |
2 |
153,831,178 (GRCm39) |
nonsense |
probably null |
|
|
R9193:Bpifa6
|
UTSW |
2 |
153,826,740 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9309:Bpifa6
|
UTSW |
2 |
153,834,207 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9316:Bpifa6
|
UTSW |
2 |
153,828,383 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Posted On |
2015-04-16 |
Incidental Mutation