Incidental Mutation 'F6893:Bpifa6'
| ID |
206 |
| Institutional Source |
Beutler Lab
|
| 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: 0.055)
|
| Stock # |
F6893 (G3)
of strain
busy
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
153816865-153842415 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 153829078 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 202
(D202Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105375
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109753]
|
| AlphaFold |
Q0VGU8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109753
AA Change: D202Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105375
Gene: ENSMUSG00000078998
AA Change: D202Y
| 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 |
0.6467 |
| Coding Region Coverage |
|
| Validation Efficiency |
88% (165/188) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
G |
A |
7: 119,924,261 (GRCm39) |
V1638M |
probably damaging |
Het |
| Agrn |
C |
T |
4: 156,258,636 (GRCm39) |
R972Q |
probably benign |
Het |
| Anxa3 |
T |
C |
5: 96,972,853 (GRCm39) |
|
probably benign |
Het |
| Ccdc15 |
G |
A |
9: 37,226,936 (GRCm39) |
T346I |
probably damaging |
Homo |
| Celsr3 |
G |
A |
9: 108,712,266 (GRCm39) |
R1731H |
probably benign |
Het |
| Ces4a |
A |
G |
8: 105,873,859 (GRCm39) |
R443G |
possibly damaging |
Het |
| Chd2 |
T |
C |
7: 73,157,620 (GRCm39) |
Q175R |
possibly damaging |
Het |
| Dpyd |
T |
A |
3: 118,597,783 (GRCm39) |
|
probably null |
Het |
| Dscam |
G |
T |
16: 96,857,660 (GRCm39) |
H117N |
possibly damaging |
Het |
| F13a1 |
A |
G |
13: 37,155,999 (GRCm39) |
Y205H |
probably damaging |
Het |
| Fat3 |
A |
C |
9: 15,918,085 (GRCm39) |
L1446R |
probably damaging |
Homo |
| Golga4 |
T |
C |
9: 118,382,525 (GRCm39) |
L515S |
probably damaging |
Het |
| Hoxb1 |
A |
T |
11: 96,256,728 (GRCm39) |
T26S |
probably benign |
Het |
| Igsf10 |
T |
G |
3: 59,238,481 (GRCm39) |
T567P |
probably damaging |
Het |
| Lamb2 |
T |
C |
9: 108,359,755 (GRCm39) |
V365A |
probably benign |
Het |
| Mepe |
A |
G |
5: 104,485,242 (GRCm39) |
I127M |
possibly damaging |
Het |
| Mpi |
A |
T |
9: 57,453,832 (GRCm39) |
M230K |
probably benign |
Homo |
| Myh4 |
A |
G |
11: 67,146,283 (GRCm39) |
D1447G |
probably null |
Homo |
| Or1f19 |
A |
G |
16: 3,411,027 (GRCm39) |
I256V |
possibly damaging |
Het |
| Or1j4 |
A |
G |
2: 36,740,819 (GRCm39) |
T254A |
probably benign |
Het |
| Panx2 |
T |
C |
15: 88,952,213 (GRCm39) |
Y227H |
probably damaging |
Homo |
| Pdzd7 |
A |
G |
19: 45,025,173 (GRCm39) |
W441R |
probably damaging |
Het |
| Poldip2 |
A |
G |
11: 78,410,020 (GRCm39) |
I267M |
probably damaging |
Homo |
| Pros1 |
T |
A |
16: 62,745,002 (GRCm39) |
V539E |
probably damaging |
Het |
| Sacs |
T |
C |
14: 61,450,425 (GRCm39) |
M4157T |
probably benign |
Het |
| Slc45a3 |
A |
G |
1: 131,909,075 (GRCm39) |
E424G |
probably benign |
Homo |
| Slc9a1 |
A |
G |
4: 133,149,457 (GRCm39) |
E761G |
probably benign |
Homo |
| Stab2 |
G |
A |
10: 86,691,035 (GRCm39) |
P2178L |
probably damaging |
Het |
| Syt4 |
C |
T |
18: 31,577,274 (GRCm39) |
V27I |
possibly damaging |
Homo |
| Thumpd1 |
T |
A |
7: 119,319,799 (GRCm39) |
K56* |
probably null |
Het |
| Tpr |
A |
G |
1: 150,269,313 (GRCm39) |
K19E |
possibly damaging |
Homo |
| Ttll10 |
A |
G |
4: 156,132,775 (GRCm39) |
I74T |
probably benign |
Het |
| Txnrd1 |
C |
T |
10: 82,702,823 (GRCm39) |
Q95* |
probably null |
Homo |
| Zc3h7b |
A |
G |
15: 81,662,872 (GRCm39) |
E421G |
possibly damaging |
Homo |
| Zc3hc1 |
G |
T |
6: 30,387,525 (GRCm39) |
D51E |
probably benign |
Homo |
|
| 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 |
|
|
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 |
|
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 |
|
| Nature of Mutation |
 DNA sequencing using the SOLiD technique identified a G to T transversion at position 658 of the Gm5840 transcript in exon 5 of 11 total exons. Two transcripts of the Gm5840 gene are displayed on Ensembl. The mutated nucleotide causes an aspartic acid to tyrosine substitution at amino acid 202 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1)..
|
| Protein Function and Prediction |
The Gm5840 gene encodes a 367 amino acid protein with evidence at the transcript level. (Uniprot Q0VGU8). The protein contains a signal peptide at amino acids 1-19, but otherwise has no predicted structure using SMART.
The D202Y change is predicted to be probably damaging by the PolyPhen program.
|
| Posted On |
2010-05-03 |
Incidental Mutation