Incidental Mutation 'R2896:Bpifb4'
| ID |
260785 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bpifb4
|
| Ensembl Gene |
ENSMUSG00000074665 |
| Gene Name |
BPI fold containing family B, member 4 |
| Synonyms |
Gm1006, LOC381399 |
| MMRRC Submission |
040484-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R2896 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
153780137-153805772 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to G
at 153796357 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (30/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd14b |
C |
T |
9: 106,327,313 (GRCm39) |
R32C |
probably benign |
Het |
| Cachd1 |
T |
A |
4: 100,828,100 (GRCm39) |
L616Q |
probably damaging |
Het |
| Cmklr2 |
T |
A |
1: 63,222,321 (GRCm39) |
I305L |
probably benign |
Het |
| Crebbp |
A |
G |
16: 3,956,680 (GRCm39) |
L381P |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Esp6 |
T |
A |
17: 40,873,834 (GRCm39) |
M7K |
possibly damaging |
Het |
| Fam83d |
G |
A |
2: 158,627,898 (GRCm39) |
R529Q |
probably damaging |
Het |
| Gm26526 |
T |
G |
7: 39,238,437 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8374 |
T |
A |
14: 18,537,084 (GRCm39) |
R47* |
probably null |
Het |
| Gss |
A |
G |
2: 155,406,749 (GRCm39) |
L342P |
probably damaging |
Het |
| Ighv1-67 |
T |
A |
12: 115,567,595 (GRCm39) |
T106S |
probably damaging |
Het |
| Kif21b |
T |
C |
1: 136,081,955 (GRCm39) |
Y668H |
possibly damaging |
Het |
| Lcmt1 |
A |
G |
7: 123,020,809 (GRCm39) |
R245G |
possibly damaging |
Het |
| Lpar6 |
A |
G |
14: 73,476,716 (GRCm39) |
K226E |
probably damaging |
Het |
| Or11h23 |
T |
C |
14: 50,947,973 (GRCm39) |
F62S |
probably damaging |
Het |
| Pcdh19 |
TGTCTCCTCCACGTC |
TGTC |
X: 132,582,058 (GRCm39) |
|
probably null |
Het |
| Pdcl |
A |
T |
2: 37,245,702 (GRCm39) |
D100E |
possibly damaging |
Het |
| Phkg1 |
C |
A |
5: 129,893,471 (GRCm39) |
K326N |
possibly damaging |
Het |
| Ppp4r3c1 |
A |
G |
X: 88,976,005 (GRCm39) |
M64T |
possibly damaging |
Het |
| Prss1 |
G |
A |
6: 41,440,639 (GRCm39) |
W238* |
probably null |
Het |
| Rdh10 |
A |
T |
1: 16,176,329 (GRCm39) |
|
probably null |
Het |
| Ror1 |
T |
C |
4: 99,953,477 (GRCm39) |
L21P |
unknown |
Het |
| Skint8 |
A |
G |
4: 111,807,333 (GRCm39) |
I340V |
probably null |
Het |
| Spata18 |
T |
C |
5: 73,815,145 (GRCm39) |
S85P |
probably damaging |
Het |
| Stard6 |
G |
A |
18: 70,609,459 (GRCm39) |
V33I |
probably benign |
Het |
| Ttll3 |
G |
T |
6: 113,369,683 (GRCm39) |
A76S |
probably benign |
Het |
| Ttll4 |
T |
A |
1: 74,724,517 (GRCm39) |
H562Q |
possibly damaging |
Het |
| Ubn1 |
A |
G |
16: 4,873,083 (GRCm39) |
H35R |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,182,955 (GRCm39) |
|
probably null |
Het |
| Zfp456 |
T |
C |
13: 67,515,416 (GRCm39) |
R97G |
possibly damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCCAGCAATACCCGGAATCC -3'
(R):5'- TAATGCCCAGCTGACACTCC -3'
Sequencing Primer
(F):5'- GGAATCCCGCCCACTCAC -3'
(R):5'- CAGCTGACACTCCTCAAGG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation