Incidental Mutation 'IGL01567:Bpifb4'
| ID |
91028 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bpifb4
|
| Ensembl Gene |
ENSMUSG00000074665 |
| Gene Name |
BPI fold containing family B, member 4 |
| Synonyms |
Gm1006, LOC381399 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
IGL01567
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
153780137-153805772 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 153789198 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105381
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099181]
[ENSMUST00000109757]
[ENSMUST00000109759]
|
| AlphaFold |
A2BGH0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099181
|
| SMART Domains |
Protein: ENSMUSP00000096786
Gene: ENSMUSG00000074665
| Domain | Start | End | E-Value | Type |
|---|
|
BPI1
|
2 |
177 |
3.47e-25 |
SMART |
|
BPI2
|
201 |
403 |
3.62e-78 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109757
|
| SMART Domains |
Protein: ENSMUSP00000105379
Gene: ENSMUSG00000074665
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
BPI1
|
171 |
391 |
1.23e-48 |
SMART |
|
BPI2
|
415 |
617 |
3.62e-78 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109759
|
| SMART Domains |
Protein: ENSMUSP00000105381
Gene: ENSMUSG00000074665
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
BPI1
|
171 |
391 |
1.23e-48 |
SMART |
|
BPI2
|
415 |
617 |
3.62e-78 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154281
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155239
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl1 |
A |
G |
7: 76,071,628 (GRCm39) |
S317G |
probably benign |
Het |
| Akna |
T |
C |
4: 63,300,087 (GRCm39) |
T652A |
probably benign |
Het |
| Anxa9 |
G |
A |
3: 95,209,743 (GRCm39) |
|
probably benign |
Het |
| Bptf |
A |
G |
11: 106,949,600 (GRCm39) |
S2125P |
probably damaging |
Het |
| Capns2 |
C |
A |
8: 93,628,634 (GRCm39) |
H174Q |
probably benign |
Het |
| Cd200 |
A |
C |
16: 45,215,054 (GRCm39) |
L199R |
probably damaging |
Het |
| Clasp2 |
T |
C |
9: 113,709,164 (GRCm39) |
V651A |
probably damaging |
Het |
| Cox18 |
G |
A |
5: 90,365,447 (GRCm39) |
Q251* |
probably null |
Het |
| Depdc1a |
T |
C |
3: 159,232,183 (GRCm39) |
S645P |
probably damaging |
Het |
| Dio3 |
T |
A |
12: 110,245,861 (GRCm39) |
C66S |
possibly damaging |
Het |
| Dock9 |
A |
T |
14: 121,890,496 (GRCm39) |
L258Q |
probably damaging |
Het |
| Ghrhr |
A |
G |
6: 55,361,108 (GRCm39) |
D274G |
probably damaging |
Het |
| Gm5129 |
A |
G |
5: 29,940,862 (GRCm39) |
|
probably benign |
Het |
| Grb7 |
A |
G |
11: 98,345,776 (GRCm39) |
N518S |
probably damaging |
Het |
| Kdm5b |
G |
A |
1: 134,530,278 (GRCm39) |
A430T |
probably damaging |
Het |
| Map10 |
C |
A |
8: 126,398,232 (GRCm39) |
Q542K |
probably benign |
Het |
| Metap1 |
T |
C |
3: 138,168,150 (GRCm39) |
T325A |
probably damaging |
Het |
| Ncan |
A |
T |
8: 70,560,984 (GRCm39) |
M661K |
probably benign |
Het |
| Or2f1b |
T |
C |
6: 42,739,661 (GRCm39) |
I225T |
probably benign |
Het |
| Or51h5 |
A |
G |
7: 102,577,623 (GRCm39) |
I263V |
probably benign |
Het |
| Otog |
T |
C |
7: 45,926,039 (GRCm39) |
|
probably benign |
Het |
| Pip4k2b |
T |
C |
11: 97,620,387 (GRCm39) |
D116G |
probably damaging |
Het |
| Rps15 |
T |
A |
10: 80,129,643 (GRCm39) |
L86Q |
probably benign |
Het |
| Sfxn4 |
G |
T |
19: 60,842,336 (GRCm39) |
T122K |
probably damaging |
Het |
| Slc4a3 |
T |
C |
1: 75,527,526 (GRCm39) |
V165A |
probably damaging |
Het |
| Spmip7 |
A |
G |
11: 11,465,015 (GRCm39) |
H122R |
possibly damaging |
Het |
| Synm |
A |
G |
7: 67,384,980 (GRCm39) |
V452A |
probably damaging |
Het |
| Tdpoz1 |
T |
C |
3: 93,578,013 (GRCm39) |
H257R |
possibly damaging |
Het |
| Tmem26 |
A |
G |
10: 68,587,061 (GRCm39) |
T170A |
probably damaging |
Het |
| Wdfy4 |
T |
G |
14: 32,873,618 (GRCm39) |
E230D |
probably benign |
Het |
|
| Other mutations in Bpifb4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01641:Bpifb4
|
APN |
2 |
153,784,601 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL01653:Bpifb4
|
APN |
2 |
153,786,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02745:Bpifb4
|
APN |
2 |
153,789,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0106:Bpifb4
|
UTSW |
2 |
153,782,888 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0309:Bpifb4
|
UTSW |
2 |
153,801,603 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0561:Bpifb4
|
UTSW |
2 |
153,786,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0601:Bpifb4
|
UTSW |
2 |
153,789,203 (GRCm39) |
splice site |
probably benign |
|
|
R1937:Bpifb4
|
UTSW |
2 |
153,785,996 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2433:Bpifb4
|
UTSW |
2 |
153,801,597 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2679:Bpifb4
|
UTSW |
2 |
153,790,544 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2896:Bpifb4
|
UTSW |
2 |
153,796,357 (GRCm39) |
splice site |
probably benign |
|
|
R4701:Bpifb4
|
UTSW |
2 |
153,792,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4772:Bpifb4
|
UTSW |
2 |
153,784,903 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5403:Bpifb4
|
UTSW |
2 |
153,785,912 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5695:Bpifb4
|
UTSW |
2 |
153,784,843 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5894:Bpifb4
|
UTSW |
2 |
153,782,852 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6007:Bpifb4
|
UTSW |
2 |
153,784,480 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6302:Bpifb4
|
UTSW |
2 |
153,801,587 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6351:Bpifb4
|
UTSW |
2 |
153,799,054 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6755:Bpifb4
|
UTSW |
2 |
153,799,658 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6796:Bpifb4
|
UTSW |
2 |
153,803,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6932:Bpifb4
|
UTSW |
2 |
153,784,547 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7489:Bpifb4
|
UTSW |
2 |
153,785,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7986:Bpifb4
|
UTSW |
2 |
153,799,650 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8826:Bpifb4
|
UTSW |
2 |
153,783,817 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9019:Bpifb4
|
UTSW |
2 |
153,790,607 (GRCm39) |
nonsense |
probably null |
|
|
RF061:Bpifb4
|
UTSW |
2 |
153,799,048 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
X0018:Bpifb4
|
UTSW |
2 |
153,785,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Bpifb4
|
UTSW |
2 |
153,784,752 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Posted On |
2013-12-09 |
Incidental Mutation