Incidental Mutation 'IGL01543:Bpifb5'
ID |
90221 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Bpifb5
|
Ensembl Gene |
ENSMUSG00000038572 |
Gene Name |
BPI fold containing family B, member 5 |
Synonyms |
BC018465 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01543
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
154065662-154082822 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 154075169 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 366
(V366F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046683
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045959]
|
AlphaFold |
Q3UQ05 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045959
AA Change: V366F
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000046683 Gene: ENSMUSG00000038572 AA Change: V366F
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
coiled coil region
|
26 |
54 |
N/A |
INTRINSIC |
Pfam:LBP_BPI_CETP
|
94 |
231 |
7.6e-14 |
PFAM |
Blast:BPI2
|
291 |
488 |
4e-91 |
BLAST |
SCOP:d1ewfa2
|
433 |
486 |
8e-3 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(1) : Targeted, other(1) |
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2 |
T |
C |
3: 59,932,097 (GRCm39) |
I204T |
probably benign |
Het |
Abhd16a |
T |
C |
17: 35,310,013 (GRCm39) |
S69P |
probably damaging |
Het |
Ampd1 |
C |
T |
3: 103,003,029 (GRCm39) |
T582I |
probably benign |
Het |
Arap3 |
G |
A |
18: 38,123,889 (GRCm39) |
R377C |
probably damaging |
Het |
Arid1a |
A |
T |
4: 133,409,033 (GRCm39) |
F1825I |
unknown |
Het |
Asxl1 |
G |
A |
2: 153,243,404 (GRCm39) |
G1318D |
probably benign |
Het |
B4galnt3 |
G |
A |
6: 120,186,273 (GRCm39) |
H807Y |
probably benign |
Het |
Caskin1 |
T |
C |
17: 24,723,522 (GRCm39) |
V770A |
probably benign |
Het |
Ccdc152 |
G |
A |
15: 3,327,606 (GRCm39) |
T57I |
possibly damaging |
Het |
Ccs |
T |
C |
19: 4,884,269 (GRCm39) |
E61G |
possibly damaging |
Het |
Chsy3 |
G |
A |
18: 59,543,472 (GRCm39) |
W870* |
probably null |
Het |
Col8a1 |
G |
A |
16: 57,448,097 (GRCm39) |
P471L |
unknown |
Het |
Cyp2j6 |
A |
C |
4: 96,414,161 (GRCm39) |
V368G |
possibly damaging |
Het |
Dnajc3 |
T |
C |
14: 119,198,274 (GRCm39) |
|
probably null |
Het |
Dpep3 |
A |
T |
8: 106,702,814 (GRCm39) |
M316K |
probably damaging |
Het |
Galntl5 |
A |
G |
5: 25,400,349 (GRCm39) |
E126G |
probably damaging |
Het |
Gli1 |
T |
C |
10: 127,168,347 (GRCm39) |
N502S |
probably damaging |
Het |
Hus1 |
A |
G |
11: 8,950,082 (GRCm39) |
L213P |
probably benign |
Het |
Hypk |
A |
G |
2: 121,287,776 (GRCm39) |
|
probably null |
Het |
Igkv4-59 |
T |
A |
6: 69,415,345 (GRCm39) |
Y70F |
probably damaging |
Het |
Impdh1 |
A |
C |
6: 29,203,377 (GRCm39) |
V14G |
probably damaging |
Het |
Kif26b |
A |
G |
1: 178,506,526 (GRCm39) |
M201V |
probably benign |
Het |
Macf1 |
A |
G |
4: 123,295,250 (GRCm39) |
I5323T |
probably damaging |
Het |
Mmp16 |
C |
T |
4: 18,051,743 (GRCm39) |
A244V |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,932,943 (GRCm39) |
D5619G |
probably benign |
Het |
Or2ag20 |
T |
C |
7: 106,465,125 (GRCm39) |
S313P |
probably benign |
Het |
Pcdh7 |
T |
C |
5: 57,878,107 (GRCm39) |
V554A |
probably damaging |
Het |
Piezo2 |
T |
C |
18: 63,203,101 (GRCm39) |
E1513G |
probably damaging |
Het |
Rab6b |
A |
G |
9: 103,039,837 (GRCm39) |
D75G |
probably damaging |
Het |
Ryr1 |
T |
C |
7: 28,790,501 (GRCm39) |
Y1435C |
probably damaging |
Het |
Scarf2 |
A |
G |
16: 17,620,413 (GRCm39) |
N81S |
probably damaging |
Het |
Six5 |
G |
A |
7: 18,830,272 (GRCm39) |
A300T |
possibly damaging |
Het |
Skap2 |
T |
A |
6: 51,989,375 (GRCm39) |
N3Y |
possibly damaging |
Het |
Skint6 |
A |
T |
4: 112,757,160 (GRCm39) |
S734T |
probably benign |
Het |
Slc15a4 |
A |
C |
5: 127,680,830 (GRCm39) |
H396Q |
probably benign |
Het |
Slco6c1 |
A |
G |
1: 97,053,553 (GRCm39) |
M116T |
possibly damaging |
Het |
Slfn9 |
T |
C |
11: 82,878,775 (GRCm39) |
D118G |
probably benign |
Het |
Trim3 |
T |
C |
7: 105,262,520 (GRCm39) |
D546G |
probably damaging |
Het |
Trpa1 |
A |
G |
1: 14,970,300 (GRCm39) |
L362P |
probably damaging |
Het |
Vasn |
A |
G |
16: 4,467,756 (GRCm39) |
T568A |
possibly damaging |
Het |
Vwa5b2 |
A |
G |
16: 20,414,466 (GRCm39) |
M281V |
probably benign |
Het |
Wwp2 |
A |
G |
8: 108,210,000 (GRCm39) |
E126G |
probably damaging |
Het |
Zfp398 |
G |
A |
6: 47,842,997 (GRCm39) |
G350S |
probably damaging |
Het |
|
Other mutations in Bpifb5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01676:Bpifb5
|
APN |
2 |
154,070,969 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL02065:Bpifb5
|
APN |
2 |
154,069,103 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02141:Bpifb5
|
APN |
2 |
154,071,477 (GRCm39) |
splice site |
probably null |
|
IGL02244:Bpifb5
|
APN |
2 |
154,067,068 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03118:Bpifb5
|
APN |
2 |
154,078,673 (GRCm39) |
splice site |
probably benign |
|
A4554:Bpifb5
|
UTSW |
2 |
154,069,100 (GRCm39) |
missense |
possibly damaging |
0.71 |
R0022:Bpifb5
|
UTSW |
2 |
154,072,268 (GRCm39) |
missense |
probably damaging |
0.98 |
R0492:Bpifb5
|
UTSW |
2 |
154,070,820 (GRCm39) |
missense |
probably benign |
0.11 |
R0654:Bpifb5
|
UTSW |
2 |
154,070,820 (GRCm39) |
missense |
probably benign |
0.11 |
R0692:Bpifb5
|
UTSW |
2 |
154,076,616 (GRCm39) |
missense |
probably benign |
0.33 |
R0707:Bpifb5
|
UTSW |
2 |
154,070,820 (GRCm39) |
missense |
probably benign |
0.11 |
R0898:Bpifb5
|
UTSW |
2 |
154,075,254 (GRCm39) |
missense |
probably benign |
|
R1534:Bpifb5
|
UTSW |
2 |
154,071,419 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1539:Bpifb5
|
UTSW |
2 |
154,065,776 (GRCm39) |
missense |
probably benign |
|
R1874:Bpifb5
|
UTSW |
2 |
154,069,122 (GRCm39) |
splice site |
probably benign |
|
R1971:Bpifb5
|
UTSW |
2 |
154,072,264 (GRCm39) |
missense |
probably benign |
0.18 |
R2001:Bpifb5
|
UTSW |
2 |
154,075,199 (GRCm39) |
missense |
possibly damaging |
0.53 |
R3013:Bpifb5
|
UTSW |
2 |
154,070,775 (GRCm39) |
missense |
possibly damaging |
0.59 |
R3916:Bpifb5
|
UTSW |
2 |
154,070,101 (GRCm39) |
missense |
probably benign |
|
R4499:Bpifb5
|
UTSW |
2 |
154,082,678 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5250:Bpifb5
|
UTSW |
2 |
154,066,881 (GRCm39) |
missense |
probably benign |
|
R6301:Bpifb5
|
UTSW |
2 |
154,072,139 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6836:Bpifb5
|
UTSW |
2 |
154,069,985 (GRCm39) |
missense |
probably benign |
0.02 |
R6869:Bpifb5
|
UTSW |
2 |
154,075,143 (GRCm39) |
missense |
probably benign |
0.33 |
R7014:Bpifb5
|
UTSW |
2 |
154,066,876 (GRCm39) |
nonsense |
probably null |
|
R7300:Bpifb5
|
UTSW |
2 |
154,070,066 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7427:Bpifb5
|
UTSW |
2 |
154,067,042 (GRCm39) |
missense |
probably benign |
|
R7428:Bpifb5
|
UTSW |
2 |
154,067,042 (GRCm39) |
missense |
probably benign |
|
R7439:Bpifb5
|
UTSW |
2 |
154,070,853 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7448:Bpifb5
|
UTSW |
2 |
154,072,105 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7935:Bpifb5
|
UTSW |
2 |
154,070,975 (GRCm39) |
missense |
probably benign |
0.01 |
R8964:Bpifb5
|
UTSW |
2 |
154,072,198 (GRCm39) |
missense |
possibly damaging |
0.96 |
R9049:Bpifb5
|
UTSW |
2 |
154,070,096 (GRCm39) |
missense |
probably benign |
0.00 |
R9058:Bpifb5
|
UTSW |
2 |
154,080,817 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9349:Bpifb5
|
UTSW |
2 |
154,067,005 (GRCm39) |
missense |
possibly damaging |
0.96 |
T0975:Bpifb5
|
UTSW |
2 |
154,071,384 (GRCm39) |
splice site |
probably null |
|
|
Posted On |
2013-12-03 |