Incidental Mutation 'IGL03118:Bpifb5'
| ID |
409893 |
| 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 # |
IGL03118
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
154065662-154082822 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 154078673 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046683
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045959]
|
| AlphaFold |
Q3UQ05 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045959
|
| SMART Domains |
Protein: ENSMUSP00000046683
Gene: ENSMUSG00000038572
| 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 |
|---|
| Abca3 |
G |
A |
17: 24,619,424 (GRCm39) |
G921S |
probably benign |
Het |
| Abca8b |
T |
C |
11: 109,838,007 (GRCm39) |
T1082A |
possibly damaging |
Het |
| B9d2 |
T |
C |
7: 25,380,901 (GRCm39) |
|
probably null |
Het |
| Bfsp1 |
T |
C |
2: 143,669,253 (GRCm39) |
E442G |
possibly damaging |
Het |
| Ccl1 |
A |
G |
11: 82,068,896 (GRCm39) |
I47T |
probably damaging |
Het |
| Cln3 |
T |
C |
7: 126,174,569 (GRCm39) |
I285V |
probably null |
Het |
| Cyp4a12b |
G |
T |
4: 115,290,173 (GRCm39) |
R242I |
possibly damaging |
Het |
| Dcc |
T |
C |
18: 71,553,344 (GRCm39) |
T771A |
probably benign |
Het |
| Erbb4 |
T |
C |
1: 68,081,878 (GRCm39) |
D1052G |
probably benign |
Het |
| Fcnb |
T |
C |
2: 27,966,630 (GRCm39) |
N301S |
probably benign |
Het |
| Gm28043 |
A |
C |
17: 29,853,705 (GRCm39) |
E403A |
probably damaging |
Het |
| Gria4 |
A |
G |
9: 4,793,804 (GRCm39) |
|
probably benign |
Het |
| Ighv5-12 |
T |
A |
12: 113,666,198 (GRCm39) |
M1L |
probably benign |
Het |
| Il17rd |
A |
G |
14: 26,815,352 (GRCm39) |
|
probably null |
Het |
| Kcnn3 |
T |
A |
3: 89,574,468 (GRCm39) |
L660Q |
probably damaging |
Het |
| Lcor |
C |
T |
19: 41,546,808 (GRCm39) |
P131S |
probably damaging |
Het |
| Leng1 |
T |
C |
7: 3,668,409 (GRCm39) |
N13S |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,468,160 (GRCm39) |
V827A |
probably damaging |
Het |
| Mapk13 |
A |
G |
17: 28,996,709 (GRCm39) |
Y208C |
probably benign |
Het |
| Mybpc3 |
T |
C |
2: 90,954,848 (GRCm39) |
V453A |
probably damaging |
Het |
| Odam |
T |
C |
5: 88,033,613 (GRCm39) |
S15P |
unknown |
Het |
| Or11l3 |
A |
T |
11: 58,516,269 (GRCm39) |
V201D |
probably damaging |
Het |
| Or8d1 |
A |
T |
9: 38,766,526 (GRCm39) |
H56L |
probably damaging |
Het |
| Pcdhb19 |
T |
C |
18: 37,632,618 (GRCm39) |
|
probably benign |
Het |
| Per2 |
G |
T |
1: 91,372,341 (GRCm39) |
Y244* |
probably null |
Het |
| Pik3ca |
A |
T |
3: 32,514,084 (GRCm39) |
I857F |
probably damaging |
Het |
| Pold1 |
T |
A |
7: 44,188,824 (GRCm39) |
I447F |
probably benign |
Het |
| Ppm1f |
T |
A |
16: 16,731,942 (GRCm39) |
W131R |
probably null |
Het |
| Ppp2r2c |
A |
G |
5: 37,083,660 (GRCm39) |
Y67C |
probably damaging |
Het |
| Psmb10 |
A |
T |
8: 106,663,532 (GRCm39) |
H155Q |
probably damaging |
Het |
| Ptbp3 |
G |
A |
4: 59,501,470 (GRCm39) |
A149V |
probably benign |
Het |
| Pygb |
T |
A |
2: 150,662,731 (GRCm39) |
V566E |
probably benign |
Het |
| Rictor |
G |
A |
15: 6,788,999 (GRCm39) |
R205Q |
possibly damaging |
Het |
| Ryr1 |
T |
A |
7: 28,715,211 (GRCm39) |
R4638W |
unknown |
Het |
| Semp2l2a |
C |
T |
8: 13,888,096 (GRCm39) |
|
probably benign |
Het |
| Septin3 |
G |
A |
15: 82,168,715 (GRCm39) |
|
probably null |
Het |
| Serpina3b |
A |
T |
12: 104,097,313 (GRCm39) |
D198V |
probably benign |
Het |
| Slc27a6 |
C |
A |
18: 58,689,815 (GRCm39) |
H94N |
probably benign |
Het |
| Taf2 |
C |
T |
15: 54,915,559 (GRCm39) |
V456M |
probably damaging |
Het |
| Tbpl2 |
T |
C |
2: 23,977,301 (GRCm39) |
E238G |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,584,551 (GRCm39) |
V20440I |
possibly damaging |
Het |
| Zfp638 |
T |
A |
6: 83,912,000 (GRCm39) |
|
probably benign |
Het |
| Zfp865 |
T |
C |
7: 5,037,644 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Bpifb5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01543:Bpifb5
|
APN |
2 |
154,075,169 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation