Incidental Mutation 'IGL02587:Bpifa6'
ID |
299576 |
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 # |
IGL02587
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
153816865-153842415 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 153831130 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 232
(L232P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105375
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109753]
|
AlphaFold |
Q0VGU8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109753
AA Change: L232P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000105375 Gene: ENSMUSG00000078998 AA Change: L232P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Pfam:LBP_BPI_CETP
|
176 |
319 |
1.4e-9 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AAdacl4fm3 |
G |
A |
4: 144,429,969 (GRCm39) |
T340I |
possibly damaging |
Het |
Acot10 |
A |
T |
15: 20,665,883 (GRCm39) |
V286E |
possibly damaging |
Het |
Calr4 |
A |
G |
4: 109,096,134 (GRCm39) |
N104S |
possibly damaging |
Het |
Cdc42bpa |
A |
G |
1: 179,921,510 (GRCm39) |
E550G |
possibly damaging |
Het |
Cfhr4 |
G |
A |
1: 139,629,668 (GRCm39) |
T712I |
probably damaging |
Het |
D3Ertd751e |
T |
A |
3: 41,708,287 (GRCm39) |
N141K |
probably benign |
Het |
Emilin2 |
A |
G |
17: 71,587,851 (GRCm39) |
|
probably benign |
Het |
Eml6 |
T |
C |
11: 29,734,236 (GRCm39) |
E1168G |
possibly damaging |
Het |
Fbxo48 |
T |
C |
11: 16,903,659 (GRCm39) |
I95T |
probably benign |
Het |
Fpr3 |
A |
T |
17: 18,190,953 (GRCm39) |
T75S |
probably benign |
Het |
Gm5145 |
A |
G |
17: 20,791,452 (GRCm39) |
K277E |
probably damaging |
Het |
Gnao1 |
A |
G |
8: 94,677,067 (GRCm39) |
|
probably benign |
Het |
Krt8 |
G |
A |
15: 101,907,367 (GRCm39) |
R239C |
probably benign |
Het |
Lrrc17 |
A |
T |
5: 21,766,078 (GRCm39) |
N187Y |
probably damaging |
Het |
Neil1 |
C |
T |
9: 57,052,263 (GRCm39) |
R195H |
probably damaging |
Het |
Nr2f1 |
C |
A |
13: 78,343,275 (GRCm39) |
|
probably benign |
Het |
Pi4ka |
C |
A |
16: 17,135,217 (GRCm39) |
G946W |
probably damaging |
Het |
Plcg2 |
A |
T |
8: 118,284,852 (GRCm39) |
N159I |
possibly damaging |
Het |
Rad54l |
A |
G |
4: 115,962,994 (GRCm39) |
Y335H |
probably damaging |
Het |
Rgsl1 |
C |
T |
1: 153,675,684 (GRCm39) |
R159H |
probably damaging |
Het |
Scn11a |
T |
C |
9: 119,634,750 (GRCm39) |
D357G |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Timeless |
A |
G |
10: 128,075,785 (GRCm39) |
M6V |
probably damaging |
Het |
Vps16 |
T |
C |
2: 130,281,636 (GRCm39) |
|
probably null |
Het |
Zfp955b |
C |
A |
17: 33,519,624 (GRCm39) |
Q31K |
probably damaging |
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 |
IGL02275:Bpifa6
|
APN |
2 |
153,834,192 (GRCm39) |
missense |
probably benign |
0.40 |
IGL02405:Bpifa6
|
APN |
2 |
153,832,782 (GRCm39) |
nonsense |
probably null |
|
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 |