Incidental Mutation 'IGL01653:Bpifb4'
ID |
102882 |
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 # |
IGL01653
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
153780137-153805772 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 153786703 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 285
(D285G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105381
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099181]
[ENSMUST00000109757]
[ENSMUST00000109759]
|
AlphaFold |
A2BGH0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099181
AA Change: D71G
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000096786 Gene: ENSMUSG00000074665 AA Change: D71G
Domain | Start | End | E-Value | Type |
BPI1
|
2 |
177 |
3.47e-25 |
SMART |
BPI2
|
201 |
403 |
3.62e-78 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109757
AA Change: D285G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000105379 Gene: ENSMUSG00000074665 AA Change: D285G
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 damaging
Transcript: ENSMUST00000109759
AA Change: D285G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000105381 Gene: ENSMUSG00000074665 AA Change: D285G
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933421I07Rik |
T |
C |
7: 42,096,398 (GRCm39) |
D119G |
probably damaging |
Het |
Apol7c |
A |
G |
15: 77,410,500 (GRCm39) |
C149R |
probably damaging |
Het |
Arfgef1 |
G |
A |
1: 10,230,133 (GRCm39) |
R1235* |
probably null |
Het |
Cep192 |
T |
A |
18: 67,986,043 (GRCm39) |
H1682Q |
possibly damaging |
Het |
Cerk |
G |
T |
15: 86,033,552 (GRCm39) |
Y290* |
probably null |
Het |
Cyld |
A |
T |
8: 89,467,998 (GRCm39) |
I544F |
probably damaging |
Het |
Dcp1a |
T |
C |
14: 30,227,528 (GRCm39) |
S134P |
possibly damaging |
Het |
Epha6 |
A |
C |
16: 59,659,666 (GRCm39) |
N817K |
probably benign |
Het |
Ephb4 |
A |
G |
5: 137,364,003 (GRCm39) |
|
probably benign |
Het |
Fcgr3 |
A |
T |
1: 170,886,849 (GRCm39) |
L25Q |
probably damaging |
Het |
Heatr3 |
A |
G |
8: 88,871,245 (GRCm39) |
I83V |
probably benign |
Het |
Hormad1 |
T |
A |
3: 95,485,608 (GRCm39) |
N265K |
possibly damaging |
Het |
Kpna1 |
A |
G |
16: 35,840,562 (GRCm39) |
T201A |
probably benign |
Het |
Krt6b |
T |
A |
15: 101,587,549 (GRCm39) |
T182S |
probably damaging |
Het |
Macc1 |
A |
G |
12: 119,414,088 (GRCm39) |
K755E |
probably damaging |
Het |
Med12l |
C |
T |
3: 59,169,314 (GRCm39) |
T1568M |
probably damaging |
Het |
Muc4 |
G |
T |
16: 32,581,722 (GRCm39) |
|
probably null |
Het |
Myt1l |
T |
C |
12: 29,960,770 (GRCm39) |
S1028P |
unknown |
Het |
Nhlrc2 |
C |
T |
19: 56,559,282 (GRCm39) |
R256C |
probably benign |
Het |
Or4c123 |
T |
A |
2: 89,127,471 (GRCm39) |
T48S |
probably benign |
Het |
Or5a3 |
G |
A |
19: 12,399,736 (GRCm39) |
R21H |
probably benign |
Het |
Pfkfb4 |
G |
A |
9: 108,828,202 (GRCm39) |
R79H |
probably damaging |
Het |
Piezo2 |
T |
C |
18: 63,315,904 (GRCm39) |
|
probably benign |
Het |
Pramel5 |
C |
T |
4: 144,000,429 (GRCm39) |
R49H |
probably benign |
Het |
Ralgapb |
T |
A |
2: 158,304,079 (GRCm39) |
S613T |
possibly damaging |
Het |
Ryr1 |
T |
C |
7: 28,778,022 (GRCm39) |
E2158G |
probably damaging |
Het |
Scgb2b19 |
T |
A |
7: 32,979,153 (GRCm39) |
Y43F |
probably damaging |
Het |
Slc17a6 |
A |
G |
7: 51,317,770 (GRCm39) |
T468A |
possibly damaging |
Het |
Slc36a1 |
A |
G |
11: 55,119,147 (GRCm39) |
D374G |
possibly damaging |
Het |
Wdtc1 |
T |
C |
4: 133,022,543 (GRCm39) |
D601G |
probably damaging |
Het |
Zfp1007 |
A |
C |
5: 109,825,182 (GRCm39) |
Y89* |
probably null |
Het |
|
Other mutations in Bpifb4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01567:Bpifb4
|
APN |
2 |
153,789,198 (GRCm39) |
splice site |
probably benign |
|
IGL01641:Bpifb4
|
APN |
2 |
153,784,601 (GRCm39) |
missense |
possibly damaging |
0.96 |
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 |
2014-01-21 |