Incidental Mutation 'R3812:Bpifb2'
ID |
274097 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bpifb2
|
Ensembl Gene |
ENSMUSG00000027481 |
Gene Name |
BPI fold containing family B, member 2 |
Synonyms |
2310069A01Rik, Bpil1, 2310034L21Rik |
MMRRC Submission |
040768-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.150)
|
Stock # |
R3812 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
153716965-153737190 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 153733871 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 404
(D404E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028983
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028983]
|
AlphaFold |
Q8C1E1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028983
AA Change: D404E
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000028983 Gene: ENSMUSG00000027481 AA Change: D404E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:LBP_BPI_CETP
|
36 |
194 |
2.4e-27 |
PFAM |
BPI2
|
253 |
456 |
2.67e-26 |
SMART |
|
Meta Mutation Damage Score |
0.0862 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
100% (28/28) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the lipid transfer/lipopolysaccharide binding protein (LT/LBP) gene family. It is highly expressed in hypertrophic tonsils. This gene and three other members of the LT/LBP gene family form a cluster on the long arm of chromosome 20. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arid2 |
T |
C |
15: 96,186,967 (GRCm39) |
V73A |
probably benign |
Het |
Ccdc150 |
A |
G |
1: 54,407,469 (GRCm39) |
M1082V |
probably benign |
Het |
Cyp4a31 |
T |
C |
4: 115,423,706 (GRCm39) |
S137P |
probably benign |
Het |
Cyp4f15 |
A |
G |
17: 32,905,151 (GRCm39) |
I45V |
probably benign |
Het |
Fbxw28 |
C |
A |
9: 109,167,598 (GRCm39) |
C53F |
possibly damaging |
Het |
Galntl5 |
T |
C |
5: 25,391,178 (GRCm39) |
F26L |
probably benign |
Het |
Gm9637 |
A |
T |
14: 19,402,398 (GRCm38) |
|
noncoding transcript |
Het |
Lcmt2 |
G |
A |
2: 120,969,187 (GRCm39) |
A632V |
probably benign |
Het |
Metap2 |
A |
T |
10: 93,706,026 (GRCm39) |
L252* |
probably null |
Het |
Myo1a |
A |
G |
10: 127,543,284 (GRCm39) |
N180S |
possibly damaging |
Het |
Nlrp4a |
T |
C |
7: 26,149,118 (GRCm39) |
W242R |
probably benign |
Het |
Or4c12b |
T |
A |
2: 89,647,395 (GRCm39) |
S242T |
probably damaging |
Het |
Or5w18 |
C |
T |
2: 87,633,396 (GRCm39) |
S221F |
possibly damaging |
Het |
Or5w19 |
T |
A |
2: 87,698,745 (GRCm39) |
S137T |
probably damaging |
Het |
Otogl |
A |
G |
10: 107,735,332 (GRCm39) |
Y151H |
probably damaging |
Het |
Pkd1 |
T |
C |
17: 24,784,615 (GRCm39) |
V387A |
probably benign |
Het |
Polm |
A |
G |
11: 5,779,512 (GRCm39) |
F429L |
possibly damaging |
Het |
Sco2 |
T |
C |
15: 89,257,882 (GRCm39) |
|
probably benign |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Sorbs2 |
A |
G |
8: 46,216,067 (GRCm39) |
T105A |
probably benign |
Het |
Syt10 |
A |
T |
15: 89,675,000 (GRCm39) |
C449S |
probably benign |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Txndc5 |
T |
C |
13: 38,707,381 (GRCm39) |
K99E |
probably benign |
Het |
Usp34 |
T |
A |
11: 23,414,517 (GRCm39) |
F2820Y |
possibly damaging |
Het |
Vmn1r170 |
T |
C |
7: 23,305,717 (GRCm39) |
S40P |
probably damaging |
Het |
Zfp292 |
A |
T |
4: 34,810,326 (GRCm39) |
L906Q |
probably damaging |
Het |
|
Other mutations in Bpifb2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02001:Bpifb2
|
APN |
2 |
153,733,195 (GRCm39) |
splice site |
probably benign |
|
IGL02164:Bpifb2
|
APN |
2 |
153,725,482 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03063:Bpifb2
|
APN |
2 |
153,731,044 (GRCm39) |
missense |
probably damaging |
1.00 |
R0044:Bpifb2
|
UTSW |
2 |
153,724,599 (GRCm39) |
splice site |
probably benign |
|
R0044:Bpifb2
|
UTSW |
2 |
153,724,599 (GRCm39) |
splice site |
probably benign |
|
R0084:Bpifb2
|
UTSW |
2 |
153,733,011 (GRCm39) |
missense |
probably benign |
0.03 |
R0791:Bpifb2
|
UTSW |
2 |
153,720,439 (GRCm39) |
missense |
probably benign |
0.05 |
R1503:Bpifb2
|
UTSW |
2 |
153,731,430 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2278:Bpifb2
|
UTSW |
2 |
153,720,399 (GRCm39) |
nonsense |
probably null |
|
R3810:Bpifb2
|
UTSW |
2 |
153,733,871 (GRCm39) |
missense |
probably benign |
0.04 |
R4030:Bpifb2
|
UTSW |
2 |
153,733,237 (GRCm39) |
missense |
probably benign |
0.30 |
R4573:Bpifb2
|
UTSW |
2 |
153,731,412 (GRCm39) |
missense |
probably damaging |
0.99 |
R4713:Bpifb2
|
UTSW |
2 |
153,723,113 (GRCm39) |
missense |
probably damaging |
0.98 |
R5143:Bpifb2
|
UTSW |
2 |
153,720,424 (GRCm39) |
missense |
probably damaging |
1.00 |
R5523:Bpifb2
|
UTSW |
2 |
153,717,905 (GRCm39) |
unclassified |
probably benign |
|
R5899:Bpifb2
|
UTSW |
2 |
153,733,050 (GRCm39) |
missense |
probably damaging |
1.00 |
R6011:Bpifb2
|
UTSW |
2 |
153,731,496 (GRCm39) |
splice site |
probably null |
|
R6172:Bpifb2
|
UTSW |
2 |
153,732,332 (GRCm39) |
missense |
probably benign |
0.15 |
R6378:Bpifb2
|
UTSW |
2 |
153,733,072 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6878:Bpifb2
|
UTSW |
2 |
153,717,832 (GRCm39) |
unclassified |
probably benign |
|
R7381:Bpifb2
|
UTSW |
2 |
153,734,268 (GRCm39) |
missense |
probably benign |
0.01 |
R7390:Bpifb2
|
UTSW |
2 |
153,731,726 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7424:Bpifb2
|
UTSW |
2 |
153,732,460 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7473:Bpifb2
|
UTSW |
2 |
153,723,116 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7493:Bpifb2
|
UTSW |
2 |
153,731,397 (GRCm39) |
missense |
possibly damaging |
0.74 |
R8145:Bpifb2
|
UTSW |
2 |
153,733,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R8178:Bpifb2
|
UTSW |
2 |
153,733,876 (GRCm39) |
missense |
probably damaging |
0.99 |
R8725:Bpifb2
|
UTSW |
2 |
153,731,356 (GRCm39) |
missense |
possibly damaging |
0.47 |
R8960:Bpifb2
|
UTSW |
2 |
153,731,046 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9201:Bpifb2
|
UTSW |
2 |
153,733,903 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
Predicted Primers |
PCR Primer
(F):5'- GATACGAGGTCTACAGCTCTCC -3'
(R):5'- AAGGCAGTTGGACCCCAAAG -3'
Sequencing Primer
(F):5'- GATCCCCAAGGCTGATCTAGTTG -3'
(R):5'- GACCACTGCCTTAAACTTTGAG -3'
|
Posted On |
2015-04-02 |