Incidental Mutation 'R6609:Bpifb3'
| ID |
525804 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bpifb3
|
| Ensembl Gene |
ENSMUSG00000068008 |
| Gene Name |
BPI fold containing family B, member 3 |
| Synonyms |
Rya3 |
| MMRRC Submission |
044732-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6609 (G1)
|
| Quality Score |
157.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
153760150-153774916 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 153762568 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105382
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088950]
[ENSMUST00000109760]
|
| AlphaFold |
Q80ZU7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000088950
|
| SMART Domains |
Protein: ENSMUSP00000086342
Gene: ENSMUSG00000068008
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
BPI1
|
30 |
272 |
3.22e-52 |
SMART |
|
BPI2
|
271 |
471 |
1.4e-70 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000109760
|
| SMART Domains |
Protein: ENSMUSP00000105382
Gene: ENSMUSG00000068008
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
BPI1
|
30 |
272 |
3.22e-52 |
SMART |
|
BPI2
|
271 |
471 |
1.4e-70 |
SMART |
|
| Meta Mutation Damage Score |
0.9490 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
| Validation Efficiency |
100% (34/34) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
C |
T |
12: 118,892,497 (GRCm39) |
V421I |
probably damaging |
Het |
| C1rl |
T |
C |
6: 124,485,583 (GRCm39) |
V318A |
probably benign |
Het |
| Cacna1b |
C |
T |
2: 24,543,061 (GRCm39) |
V1264M |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,041,129 (GRCm39) |
D1551G |
probably benign |
Het |
| Cdc42bpa |
T |
G |
1: 179,928,839 (GRCm39) |
|
probably null |
Het |
| Cdc7 |
G |
A |
5: 107,120,924 (GRCm39) |
R182H |
probably benign |
Het |
| Cep20 |
TTGTG |
TTG |
16: 14,118,009 (GRCm39) |
|
probably null |
Het |
| Cyth1 |
A |
T |
11: 118,061,686 (GRCm39) |
L309Q |
probably damaging |
Het |
| Dnah6 |
G |
A |
6: 73,030,678 (GRCm39) |
T3378I |
possibly damaging |
Het |
| Get4 |
A |
G |
5: 139,254,820 (GRCm39) |
|
probably benign |
Het |
| Gm136 |
T |
A |
4: 34,746,526 (GRCm39) |
M162L |
probably benign |
Het |
| Grik5 |
G |
T |
7: 24,714,951 (GRCm39) |
S681* |
probably null |
Het |
| Hsf5 |
C |
T |
11: 87,526,779 (GRCm39) |
P484S |
probably damaging |
Het |
| Kcnc2 |
G |
C |
10: 112,107,761 (GRCm39) |
G51R |
probably benign |
Het |
| Kl |
A |
T |
5: 150,912,427 (GRCm39) |
K725N |
probably benign |
Het |
| Lama3 |
G |
A |
18: 12,646,735 (GRCm39) |
V144M |
probably damaging |
Het |
| Lrrc14 |
T |
C |
15: 76,598,453 (GRCm39) |
V363A |
probably benign |
Het |
| Mettl15 |
T |
C |
2: 108,967,687 (GRCm39) |
R200G |
probably null |
Het |
| Mki67 |
T |
C |
7: 135,301,558 (GRCm39) |
T1159A |
possibly damaging |
Het |
| Muc6 |
G |
C |
7: 141,226,700 (GRCm39) |
|
probably benign |
Het |
| Ndufb5 |
C |
G |
3: 32,795,832 (GRCm39) |
T8R |
probably benign |
Het |
| Or4f60 |
T |
C |
2: 111,902,509 (GRCm39) |
M140V |
probably benign |
Het |
| Or6ae1 |
C |
A |
7: 139,742,476 (GRCm39) |
R129L |
probably benign |
Het |
| Pde1a |
T |
A |
2: 79,736,484 (GRCm39) |
D15V |
probably damaging |
Het |
| Plcg2 |
G |
A |
8: 118,294,909 (GRCm39) |
G191S |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,408,829 (GRCm39) |
T1895A |
probably damaging |
Het |
| Pxdn |
T |
C |
12: 30,052,940 (GRCm39) |
V1039A |
probably benign |
Het |
| Slc26a5 |
T |
C |
5: 22,024,717 (GRCm39) |
I456V |
possibly damaging |
Het |
| Smco4 |
C |
T |
9: 15,456,031 (GRCm39) |
A39V |
probably damaging |
Het |
| Tmem102 |
T |
A |
11: 69,695,940 (GRCm39) |
L40F |
probably damaging |
Het |
| Ylpm1 |
C |
G |
12: 85,062,051 (GRCm39) |
P651A |
unknown |
Het |
| Zfp985 |
A |
T |
4: 147,667,578 (GRCm39) |
M149L |
probably benign |
Het |
| Zfp985 |
T |
C |
4: 147,668,124 (GRCm39) |
F331L |
probably damaging |
Het |
|
| Other mutations in Bpifb3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01982:Bpifb3
|
APN |
2 |
153,767,521 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL02568:Bpifb3
|
APN |
2 |
153,766,721 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02817:Bpifb3
|
APN |
2 |
153,761,566 (GRCm39) |
missense |
unknown |
|
|
IGL03175:Bpifb3
|
APN |
2 |
153,761,568 (GRCm39) |
missense |
unknown |
|
|
R0478:Bpifb3
|
UTSW |
2 |
153,773,400 (GRCm39) |
splice site |
probably benign |
|
|
R0538:Bpifb3
|
UTSW |
2 |
153,765,789 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1633:Bpifb3
|
UTSW |
2 |
153,764,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1850:Bpifb3
|
UTSW |
2 |
153,771,264 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1874:Bpifb3
|
UTSW |
2 |
153,767,760 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5993:Bpifb3
|
UTSW |
2 |
153,771,234 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6120:Bpifb3
|
UTSW |
2 |
153,773,363 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6170:Bpifb3
|
UTSW |
2 |
153,761,557 (GRCm39) |
missense |
unknown |
|
|
R6216:Bpifb3
|
UTSW |
2 |
153,767,773 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6274:Bpifb3
|
UTSW |
2 |
153,771,243 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6431:Bpifb3
|
UTSW |
2 |
153,766,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6466:Bpifb3
|
UTSW |
2 |
153,764,108 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7334:Bpifb3
|
UTSW |
2 |
153,761,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8111:Bpifb3
|
UTSW |
2 |
153,764,609 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8375:Bpifb3
|
UTSW |
2 |
153,767,715 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8812:Bpifb3
|
UTSW |
2 |
153,764,516 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9049:Bpifb3
|
UTSW |
2 |
153,767,810 (GRCm39) |
missense |
probably benign |
0.08 |
|
Z1177:Bpifb3
|
UTSW |
2 |
153,767,709 (GRCm39) |
missense |
probably benign |
0.36 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATCCTCAGGGTGAAAGGAC -3'
(R):5'- AATCAAGCAACCTTCGAGGGG -3'
Sequencing Primer
(F):5'- TCCTCAGGGTGAAAGGACACTTC -3'
(R):5'- ATGTCCTTCCTGGCTCAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation