Incidental Mutation 'R6011:Bpifb2'
| ID |
482077 |
| 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 |
043253-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.158)
|
| Stock # |
R6011 (G1)
|
| Quality Score |
208.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
153716965-153737190 bp(+) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 153731496 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028983
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028983]
|
| AlphaFold |
Q8C1E1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028983
|
| SMART Domains |
Protein: ENSMUSP00000028983
Gene: ENSMUSG00000027481
| 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: 97.5%
- 20x: 92.0%
|
| Validation Efficiency |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
A |
11: 84,136,570 (GRCm39) |
N533K |
probably benign |
Het |
| Adamts15 |
G |
T |
9: 30,814,082 (GRCm39) |
H694Q |
probably damaging |
Het |
| Adcy5 |
T |
C |
16: 34,977,598 (GRCm39) |
L377P |
probably benign |
Het |
| Add2 |
T |
C |
6: 86,075,607 (GRCm39) |
L252P |
probably damaging |
Het |
| Amer1 |
ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC |
ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC |
X: 94,470,889 (GRCm39) |
|
probably benign |
Het |
| Ankrd13d |
A |
G |
19: 4,331,962 (GRCm39) |
L39P |
probably damaging |
Het |
| Asic1 |
G |
T |
15: 99,596,960 (GRCm39) |
A541S |
probably benign |
Het |
| Bhmt1b |
A |
G |
18: 87,774,663 (GRCm39) |
E62G |
probably damaging |
Het |
| Catsper3 |
A |
G |
13: 55,934,305 (GRCm39) |
I75M |
probably damaging |
Het |
| Ccser2 |
T |
C |
14: 36,601,532 (GRCm39) |
E837G |
probably benign |
Het |
| Clasp2 |
C |
T |
9: 113,705,315 (GRCm39) |
P557L |
probably benign |
Het |
| Clstn2 |
C |
T |
9: 97,338,579 (GRCm39) |
R860Q |
probably benign |
Het |
| Cplx3 |
A |
T |
9: 57,523,038 (GRCm39) |
D140E |
probably damaging |
Het |
| Cyp2c66 |
A |
G |
19: 39,130,380 (GRCm39) |
K72E |
probably benign |
Het |
| Cyp3a44 |
A |
G |
5: 145,738,084 (GRCm39) |
|
probably null |
Het |
| Disp2 |
G |
A |
2: 118,621,301 (GRCm39) |
V678I |
possibly damaging |
Het |
| Dock4 |
T |
C |
12: 40,867,756 (GRCm39) |
|
probably null |
Het |
| Eml3 |
T |
C |
19: 8,916,471 (GRCm39) |
Y688H |
probably damaging |
Het |
| Fam187a |
A |
G |
11: 102,776,267 (GRCm39) |
K24E |
probably damaging |
Het |
| Fhit |
T |
C |
14: 9,870,068 (GRCm38) |
K134E |
probably benign |
Het |
| Foxl3 |
A |
G |
5: 138,807,374 (GRCm39) |
*217W |
probably null |
Het |
| Gm16485 |
A |
T |
9: 8,972,454 (GRCm39) |
|
probably benign |
Het |
| Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
| Hmgxb3 |
G |
A |
18: 61,296,096 (GRCm39) |
T304I |
probably damaging |
Het |
| Lgsn |
A |
G |
1: 31,242,847 (GRCm39) |
S310G |
probably damaging |
Het |
| Muc21 |
T |
A |
17: 35,933,074 (GRCm39) |
|
probably benign |
Het |
| Niban2 |
T |
C |
2: 32,812,877 (GRCm39) |
Y482H |
probably damaging |
Het |
| Or12e13 |
A |
G |
2: 87,664,259 (GRCm39) |
N292S |
probably damaging |
Het |
| Or4k42 |
C |
A |
2: 111,320,192 (GRCm39) |
A104S |
probably benign |
Het |
| Or6c8b |
A |
T |
10: 128,882,508 (GRCm39) |
H141Q |
probably benign |
Het |
| Or7g25 |
T |
A |
9: 19,159,807 (GRCm39) |
E296V |
probably damaging |
Het |
| Or9i1b |
G |
A |
19: 13,896,521 (GRCm39) |
V46I |
probably benign |
Het |
| Pelo |
A |
G |
13: 115,226,302 (GRCm39) |
S52P |
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,096,080 (GRCm39) |
N528S |
probably benign |
Het |
| Rfc3 |
T |
A |
5: 151,567,184 (GRCm39) |
I291L |
probably damaging |
Het |
| Rpl35 |
A |
T |
2: 38,894,813 (GRCm39) |
|
probably null |
Het |
| Sectm1b |
C |
T |
11: 120,946,704 (GRCm39) |
V64I |
possibly damaging |
Het |
| Serpina12 |
A |
G |
12: 104,001,993 (GRCm39) |
M241T |
probably damaging |
Het |
| Serpina1a |
T |
A |
12: 103,823,728 (GRCm39) |
D195V |
probably damaging |
Het |
| Sesn2 |
C |
T |
4: 132,226,708 (GRCm39) |
V129M |
probably damaging |
Het |
| Slc4a1 |
A |
C |
11: 102,243,357 (GRCm39) |
V758G |
probably damaging |
Het |
| Tmx4 |
A |
T |
2: 134,481,756 (GRCm39) |
Y56N |
probably damaging |
Het |
| Traj50 |
T |
C |
14: 54,405,091 (GRCm39) |
|
probably benign |
Het |
| Trio |
T |
G |
15: 27,735,631 (GRCm39) |
K2820Q |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,434,309 (GRCm39) |
G2417S |
probably benign |
Het |
| Usp32 |
T |
C |
11: 84,922,923 (GRCm39) |
D665G |
possibly 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 |
|
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'- TTGGCAAACCCATCCTCCTG -3'
(R):5'- GAATTCTGAAATCAGGCCCCG -3'
Sequencing Primer
(F):5'- GCCTATGCATGGTGCTCAC -3'
(R):5'- GCAGTTTCACAGTCAAGGC -3'
|
| Posted On |
2017-06-27 |
Incidental Mutation