Incidental Mutation 'IGL02405:Bpifa6'
ID |
292029 |
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 # |
IGL02405
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
153816865-153842415 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 153832782 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 299
(L299*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105375
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109753]
|
AlphaFold |
Q0VGU8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000109753
AA Change: L299*
|
SMART Domains |
Protein: ENSMUSP00000105375 Gene: ENSMUSG00000078998 AA Change: L299*
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
G |
17: 24,498,036 (GRCm39) |
S1434P |
possibly damaging |
Het |
Abcc12 |
G |
T |
8: 87,284,782 (GRCm39) |
Q278K |
probably damaging |
Het |
Adk |
A |
G |
14: 21,153,899 (GRCm39) |
K48R |
probably benign |
Het |
Atp8b3 |
C |
T |
10: 80,366,462 (GRCm39) |
G267D |
probably damaging |
Het |
Cblb |
G |
A |
16: 51,986,616 (GRCm39) |
A620T |
probably benign |
Het |
Cep128 |
C |
T |
12: 91,233,760 (GRCm39) |
R436H |
probably benign |
Het |
Chd4 |
A |
G |
6: 125,074,190 (GRCm39) |
D21G |
probably benign |
Het |
Cnksr1 |
T |
C |
4: 133,963,592 (GRCm39) |
D30G |
possibly damaging |
Het |
Crybb2 |
A |
G |
5: 113,206,374 (GRCm39) |
Y154H |
probably damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dhx57 |
A |
T |
17: 80,562,979 (GRCm39) |
|
probably null |
Het |
Eri2 |
T |
C |
7: 119,384,705 (GRCm39) |
R599G |
probably damaging |
Het |
Fcrl1 |
A |
C |
3: 87,293,074 (GRCm39) |
K244Q |
probably damaging |
Het |
Gm11992 |
A |
G |
11: 9,009,939 (GRCm39) |
N179S |
probably benign |
Het |
Hgfac |
A |
G |
5: 35,201,824 (GRCm39) |
D319G |
probably benign |
Het |
Irf5 |
G |
A |
6: 29,535,760 (GRCm39) |
R258H |
probably damaging |
Het |
Mecr |
G |
A |
4: 131,590,303 (GRCm39) |
|
probably null |
Het |
Obscn |
T |
G |
11: 59,023,428 (GRCm39) |
K650Q |
probably damaging |
Het |
Or5b98 |
A |
G |
19: 12,931,823 (GRCm39) |
Y290C |
probably damaging |
Het |
Pde4d |
T |
C |
13: 108,996,743 (GRCm39) |
|
probably null |
Het |
Saxo4 |
G |
A |
19: 10,451,930 (GRCm39) |
T406I |
probably damaging |
Het |
Serpinh1 |
A |
G |
7: 98,996,541 (GRCm39) |
M217T |
possibly damaging |
Het |
Setbp1 |
A |
T |
18: 78,900,514 (GRCm39) |
M1051K |
probably damaging |
Het |
Slc43a3 |
A |
G |
2: 84,768,585 (GRCm39) |
E68G |
probably damaging |
Het |
Supt5 |
T |
C |
7: 28,015,249 (GRCm39) |
N969D |
probably benign |
Het |
Taf2 |
A |
T |
15: 54,897,551 (GRCm39) |
|
probably benign |
Het |
Tlr2 |
A |
G |
3: 83,743,981 (GRCm39) |
F701L |
probably damaging |
Het |
Trim46 |
T |
C |
3: 89,149,792 (GRCm39) |
T222A |
probably benign |
Het |
Tshz3 |
A |
T |
7: 36,469,075 (GRCm39) |
N355Y |
possibly damaging |
Het |
Vmn2r3 |
A |
G |
3: 64,178,620 (GRCm39) |
|
probably benign |
Het |
Xkr9 |
A |
T |
1: 13,742,997 (GRCm39) |
|
probably benign |
Het |
Zfhx3 |
C |
T |
8: 109,682,374 (GRCm39) |
A3271V |
unknown |
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 |
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 |