Incidental Mutation 'R3810:Bpifb2'
| ID |
275149 |
| 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 |
040880-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
R3810 (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: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
100% (40/40) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd6 |
T |
A |
14: 8,045,603 (GRCm38) |
V173D |
probably benign |
Het |
| Agbl3 |
G |
T |
6: 34,776,664 (GRCm39) |
S385I |
probably damaging |
Het |
| Ahcyl2 |
A |
G |
6: 29,891,260 (GRCm39) |
I455V |
probably benign |
Het |
| Ctbp1 |
A |
G |
5: 33,424,389 (GRCm39) |
|
probably benign |
Het |
| D130040H23Rik |
T |
A |
8: 69,755,022 (GRCm39) |
C160S |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,908,503 (GRCm39) |
W1039R |
probably damaging |
Het |
| Dock6 |
T |
C |
9: 21,712,873 (GRCm39) |
K1995E |
probably damaging |
Het |
| Entpd3 |
A |
G |
9: 120,391,068 (GRCm39) |
E440G |
probably benign |
Het |
| Gm20939 |
G |
A |
17: 95,184,138 (GRCm39) |
R262K |
possibly damaging |
Het |
| Gm9637 |
A |
T |
14: 19,402,398 (GRCm38) |
|
noncoding transcript |
Het |
| Gm9847 |
T |
C |
12: 14,545,148 (GRCm39) |
|
noncoding transcript |
Het |
| H2-Q6 |
A |
G |
17: 35,644,757 (GRCm39) |
E182G |
probably damaging |
Het |
| Has1 |
T |
C |
17: 18,067,822 (GRCm39) |
Y356C |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,006,101 (GRCm39) |
T900A |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Klhl35 |
A |
G |
7: 99,119,448 (GRCm39) |
D311G |
probably benign |
Het |
| Metap2 |
A |
T |
10: 93,706,026 (GRCm39) |
L252* |
probably null |
Het |
| Mrgpra9 |
T |
A |
7: 46,885,527 (GRCm39) |
I47F |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,417,863 (GRCm39) |
L3603P |
possibly damaging |
Het |
| Neurl4 |
A |
G |
11: 69,794,859 (GRCm39) |
H323R |
probably damaging |
Het |
| Oas1d |
A |
T |
5: 121,053,049 (GRCm39) |
I35F |
probably damaging |
Het |
| Or4c124 |
G |
A |
2: 89,156,098 (GRCm39) |
T142M |
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 |
| Orc6 |
T |
A |
8: 86,026,613 (GRCm39) |
S19R |
probably benign |
Het |
| Pcdh12 |
T |
C |
18: 38,414,290 (GRCm39) |
E945G |
probably damaging |
Het |
| Plekha6 |
A |
G |
1: 133,201,717 (GRCm39) |
M377V |
probably benign |
Het |
| Psmd1 |
T |
A |
1: 86,060,437 (GRCm39) |
V828D |
probably damaging |
Het |
| Rbbp5 |
T |
C |
1: 132,420,325 (GRCm39) |
V59A |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Tas2r130 |
A |
G |
6: 131,607,792 (GRCm39) |
M1T |
probably null |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Trgv2 |
T |
C |
13: 19,521,011 (GRCm39) |
T28A |
possibly damaging |
Het |
| Trpc4ap |
T |
A |
2: 155,485,355 (GRCm39) |
I448F |
probably damaging |
Het |
| Ttc21b |
C |
T |
2: 66,082,577 (GRCm39) |
|
probably null |
Het |
| Txndc5 |
T |
C |
13: 38,707,381 (GRCm39) |
K99E |
probably benign |
Het |
| Uvrag |
A |
G |
7: 98,628,919 (GRCm39) |
Y383H |
probably damaging |
Het |
| Vim |
T |
C |
2: 13,583,563 (GRCm39) |
|
probably null |
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 |
|
|
R3812: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'- GGTAACACTGATACGAGGTCTAC -3'
(R):5'- TTGGACCCCAAAGACCACTG -3'
Sequencing Primer
(F):5'- GATCCCCAAGGCTGATCTAGTTG -3'
(R):5'- CTGCCTTAAACTTTGAGCCTGGAAG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation