Incidental Mutation 'R9316:Bpifa6'
| ID |
705868 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bpifa6
|
| Ensembl Gene |
ENSMUSG00000078998 |
| Gene Name |
BPI fold containing family A, member 6 |
| Synonyms |
Gm5840 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R9316 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
153816865-153842415 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 153828383 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 163
(V163A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105375
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109753]
|
| AlphaFold |
Q0VGU8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109753
AA Change: V163A
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000105375
Gene: ENSMUSG00000078998
AA Change: V163A
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
91% (32/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr5 |
C |
A |
2: 158,477,274 (GRCm39) |
N408K |
probably benign |
Het |
| AI661453 |
A |
G |
17: 47,747,832 (GRCm39) |
I35V |
probably benign |
Het |
| Asb10 |
G |
T |
5: 24,745,045 (GRCm39) |
N101K |
possibly damaging |
Het |
| Dmp1 |
G |
T |
5: 104,357,767 (GRCm39) |
D36Y |
probably benign |
Het |
| Eef1d |
T |
A |
15: 75,781,130 (GRCm39) |
|
probably benign |
Het |
| Gcm2 |
C |
T |
13: 41,259,328 (GRCm39) |
R47H |
probably damaging |
Het |
| Gm7145 |
A |
G |
1: 117,896,174 (GRCm39) |
N72S |
probably benign |
Het |
| Gpr45 |
T |
A |
1: 43,071,534 (GRCm39) |
V59E |
probably damaging |
Het |
| Gucy1a1 |
T |
C |
3: 82,016,250 (GRCm39) |
E246G |
possibly damaging |
Het |
| Hspa12a |
C |
T |
19: 58,793,079 (GRCm39) |
E369K |
probably benign |
Het |
| Iho1 |
T |
C |
9: 108,298,726 (GRCm39) |
T31A |
possibly damaging |
Het |
| Il6st |
T |
A |
13: 112,639,349 (GRCm39) |
N652K |
possibly damaging |
Het |
| Kdm5a |
T |
A |
6: 120,381,973 (GRCm39) |
D672E |
probably damaging |
Het |
| Klk6 |
T |
C |
7: 43,477,912 (GRCm39) |
S95P |
probably benign |
Het |
| Lrrc51 |
C |
T |
7: 101,562,351 (GRCm39) |
R169H |
probably damaging |
Het |
| Or14c41 |
T |
C |
7: 86,235,134 (GRCm39) |
V217A |
probably benign |
Het |
| Or3a4 |
A |
T |
11: 73,944,892 (GRCm39) |
I231N |
probably damaging |
Het |
| Pacsin1 |
A |
G |
17: 27,924,707 (GRCm39) |
K186E |
possibly damaging |
Het |
| Pate3 |
C |
T |
9: 35,557,374 (GRCm39) |
C94Y |
probably damaging |
Het |
| Pcdh18 |
G |
A |
3: 49,709,089 (GRCm39) |
T742M |
probably damaging |
Het |
| Pogz |
T |
A |
3: 94,784,659 (GRCm39) |
S779T |
probably damaging |
Het |
| Prep |
A |
T |
10: 44,967,192 (GRCm39) |
K75M |
probably damaging |
Het |
| Qsox2 |
T |
G |
2: 26,101,084 (GRCm39) |
K475T |
probably benign |
Het |
| Qsox2 |
T |
A |
2: 26,101,085 (GRCm39) |
K475* |
probably null |
Het |
| Rfng |
A |
T |
11: 120,674,863 (GRCm39) |
D42E |
unknown |
Het |
| Ripor2 |
C |
T |
13: 24,905,719 (GRCm39) |
T955M |
probably benign |
Het |
| Ryr1 |
C |
T |
7: 28,717,387 (GRCm39) |
E4554K |
unknown |
Het |
| Slco1a5 |
A |
T |
6: 142,195,935 (GRCm39) |
L356H |
probably damaging |
Het |
| Tbc1d21 |
G |
A |
9: 58,274,215 (GRCm39) |
A30V |
probably benign |
Het |
| Tmem161b |
C |
A |
13: 84,430,855 (GRCm39) |
H158N |
possibly damaging |
Het |
| Tmem217 |
A |
G |
17: 29,745,383 (GRCm39) |
F116L |
probably benign |
Het |
| Tnfrsf13c |
A |
G |
15: 82,108,021 (GRCm39) |
I119T |
probably benign |
Het |
| Tpp2 |
G |
A |
1: 44,017,604 (GRCm39) |
R736H |
probably damaging |
Het |
| Vmn2r75 |
T |
A |
7: 85,797,313 (GRCm39) |
R833S |
possibly damaging |
Het |
| Zfp330 |
A |
G |
8: 83,491,487 (GRCm39) |
S229P |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAACCAAGACATGCTGGCC -3'
(R):5'- GAGGAAGTGGTGACCTCTTTC -3'
Sequencing Primer
(F):5'- CCCAGGAAGGACTGTTGAGTAC -3'
(R):5'- CAGAGCATCATTCATGCC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation