Incidental Mutation 'R6172:Bpifb2'
| ID |
488229 |
| 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 |
044315-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.158)
|
| Stock # |
R6172 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
153716965-153737190 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 153732332 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 310
(H310Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028983
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028983]
|
| AlphaFold |
Q8C1E1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028983
AA Change: H310Q
PolyPhen 2
Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000028983
Gene: ENSMUSG00000027481
AA Change: H310Q
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.5%
|
| Validation Efficiency |
100% (44/44) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap42 |
A |
T |
9: 9,148,246 (GRCm39) |
C108S |
possibly damaging |
Het |
| Bbs2 |
T |
C |
8: 94,814,039 (GRCm39) |
E193G |
probably benign |
Het |
| Cand2 |
A |
G |
6: 115,768,271 (GRCm39) |
E472G |
probably benign |
Het |
| Cd81 |
A |
G |
7: 142,606,691 (GRCm39) |
|
probably benign |
Het |
| Chd5 |
A |
T |
4: 152,463,848 (GRCm39) |
H1476L |
probably damaging |
Het |
| Clpx |
C |
A |
9: 65,209,161 (GRCm39) |
S92* |
probably null |
Het |
| Cstf3 |
T |
C |
2: 104,481,987 (GRCm39) |
V276A |
probably damaging |
Het |
| Ehd4 |
G |
A |
2: 119,932,737 (GRCm39) |
Q230* |
probably null |
Het |
| Erich3 |
A |
G |
3: 154,469,978 (GRCm39) |
T4A |
possibly damaging |
Het |
| Erlin2 |
T |
G |
8: 27,526,123 (GRCm39) |
|
probably null |
Het |
| Exosc1 |
C |
A |
19: 41,912,442 (GRCm39) |
Q148H |
probably damaging |
Het |
| Fbxw27 |
A |
T |
9: 109,601,337 (GRCm39) |
V261E |
probably damaging |
Het |
| Flrt2 |
T |
A |
12: 95,746,305 (GRCm39) |
N214K |
probably damaging |
Het |
| Foxp1 |
G |
A |
6: 98,992,471 (GRCm39) |
Q41* |
probably null |
Het |
| Foxp1 |
C |
A |
6: 98,992,475 (GRCm39) |
|
probably null |
Het |
| Frk |
T |
C |
10: 34,467,961 (GRCm39) |
L325P |
probably damaging |
Het |
| Gm21698 |
T |
C |
5: 26,192,371 (GRCm39) |
I72V |
probably benign |
Het |
| Gm39115 |
A |
T |
7: 141,689,651 (GRCm39) |
C41S |
unknown |
Het |
| Hectd1 |
G |
A |
12: 51,816,065 (GRCm39) |
P1336S |
probably damaging |
Het |
| Ighv7-1 |
T |
C |
12: 113,860,183 (GRCm39) |
S70G |
probably damaging |
Het |
| Itga10 |
T |
C |
3: 96,554,753 (GRCm39) |
I78T |
probably benign |
Het |
| Itgb4 |
A |
G |
11: 115,891,237 (GRCm39) |
H1218R |
probably benign |
Het |
| Marchf6 |
A |
T |
15: 31,483,013 (GRCm39) |
N463K |
possibly damaging |
Het |
| Muc5b |
A |
C |
7: 141,412,513 (GRCm39) |
T1820P |
unknown |
Het |
| Nfatc4 |
A |
G |
14: 56,066,990 (GRCm39) |
T510A |
possibly damaging |
Het |
| Nwd2 |
G |
T |
5: 63,964,249 (GRCm39) |
V1278F |
probably damaging |
Het |
| Or52n2c |
A |
C |
7: 104,574,503 (GRCm39) |
M156R |
probably benign |
Het |
| Or7g19 |
A |
G |
9: 18,856,042 (GRCm39) |
T33A |
probably benign |
Het |
| P2rx1 |
G |
A |
11: 72,900,856 (GRCm39) |
V209M |
probably damaging |
Het |
| Pkn1 |
T |
C |
8: 84,397,384 (GRCm39) |
K874R |
possibly damaging |
Het |
| Plec |
C |
T |
15: 76,056,576 (GRCm39) |
V4444I |
probably damaging |
Het |
| Ppp1r37 |
A |
T |
7: 19,266,329 (GRCm39) |
M479K |
possibly damaging |
Het |
| Prr11 |
A |
C |
11: 86,994,449 (GRCm39) |
F66V |
probably benign |
Het |
| Rbbp5 |
A |
G |
1: 132,424,554 (GRCm39) |
D268G |
possibly damaging |
Het |
| Rbbp6 |
T |
A |
7: 122,597,778 (GRCm39) |
Y734* |
probably null |
Het |
| Rc3h2 |
GCC |
GCCC |
2: 37,304,745 (GRCm39) |
|
probably null |
Het |
| Rhou |
A |
G |
8: 124,387,903 (GRCm39) |
K212E |
probably benign |
Het |
| Rsph1 |
G |
A |
17: 31,492,392 (GRCm39) |
T58I |
probably benign |
Het |
| Serpina3m |
A |
G |
12: 104,355,486 (GRCm39) |
N51S |
probably damaging |
Het |
| Shisa6 |
A |
T |
11: 66,108,832 (GRCm39) |
D348E |
probably benign |
Het |
| Slc6a5 |
T |
A |
7: 49,598,081 (GRCm39) |
Y648* |
probably null |
Het |
| Stag3 |
A |
G |
5: 138,298,105 (GRCm39) |
D699G |
probably benign |
Het |
| Terf2ip |
A |
T |
8: 112,744,649 (GRCm39) |
D322V |
probably damaging |
Het |
| Vmn1r125 |
A |
T |
7: 21,006,275 (GRCm39) |
M58L |
probably benign |
Het |
| Wdr49 |
T |
A |
3: 75,205,487 (GRCm39) |
D643V |
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 |
|
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 |
|
|
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'- CCTGTAAGATCTAGCTCAGAGTC -3'
(R):5'- GTCACTCACCACATCCAGGG -3'
Sequencing Primer
(F):5'- CAACCTGGGTGTATAGCAAGCTC -3'
(R):5'- TCACCACATCCAGGGAGAAAAGG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation