Incidental Mutation 'R7300:Bpifb5'
ID |
566912 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bpifb5
|
Ensembl Gene |
ENSMUSG00000038572 |
Gene Name |
BPI fold containing family B, member 5 |
Synonyms |
BC018465 |
MMRRC Submission |
045404-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7300 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
154065662-154082822 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 154070066 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 172
(E172G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046683
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045959]
|
AlphaFold |
Q3UQ05 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045959
AA Change: E172G
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000046683 Gene: ENSMUSG00000038572 AA Change: E172G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
coiled coil region
|
26 |
54 |
N/A |
INTRINSIC |
Pfam:LBP_BPI_CETP
|
94 |
231 |
7.6e-14 |
PFAM |
Blast:BPI2
|
291 |
488 |
4e-91 |
BLAST |
SCOP:d1ewfa2
|
433 |
486 |
8e-3 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
94% (45/48) |
Allele List at MGI |
All alleles(1) : Targeted, other(1) |
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actmap |
G |
A |
7: 26,900,548 (GRCm39) |
A176T |
probably damaging |
Het |
Adgrd1 |
T |
C |
5: 129,174,411 (GRCm39) |
|
probably null |
Het |
Atr |
T |
C |
9: 95,747,423 (GRCm39) |
I235T |
probably benign |
Het |
Btbd2 |
A |
T |
10: 80,480,100 (GRCm39) |
I420N |
probably damaging |
Het |
Ccdc141 |
G |
A |
2: 76,845,038 (GRCm39) |
T1343I |
probably benign |
Het |
Cd59b |
A |
T |
2: 103,914,795 (GRCm39) |
K64N |
possibly damaging |
Het |
Cd63 |
A |
G |
10: 128,748,034 (GRCm39) |
N144S |
probably benign |
Het |
Cip2a |
A |
G |
16: 48,834,217 (GRCm39) |
K631E |
probably damaging |
Het |
Col4a4 |
C |
T |
1: 82,464,361 (GRCm39) |
R989Q |
unknown |
Het |
Cyp4a31 |
A |
G |
4: 115,427,468 (GRCm39) |
T225A |
probably benign |
Het |
Dnah1 |
T |
G |
14: 30,991,798 (GRCm39) |
E3068A |
probably benign |
Het |
Fpgt |
C |
T |
3: 154,792,612 (GRCm39) |
V472I |
probably damaging |
Het |
Gm4779 |
TCGGGGCCGGGGCCGGGGCCG |
TCGGGGCCGGGGCCGGGGCCGGGGCCG |
X: 100,837,777 (GRCm39) |
|
probably benign |
Het |
Homer3 |
T |
C |
8: 70,737,953 (GRCm39) |
M1T |
probably null |
Het |
Ighv1-4 |
T |
C |
12: 114,450,908 (GRCm39) |
I67V |
probably benign |
Het |
Il17ra |
A |
G |
6: 120,459,063 (GRCm39) |
D738G |
probably benign |
Het |
Il2ra |
A |
G |
2: 11,681,721 (GRCm39) |
T109A |
not run |
Het |
Itgb6 |
T |
C |
2: 60,435,650 (GRCm39) |
D700G |
probably benign |
Het |
Krt31 |
T |
C |
11: 99,938,612 (GRCm39) |
E327G |
probably damaging |
Het |
Large1 |
A |
C |
8: 73,564,224 (GRCm39) |
L514R |
probably damaging |
Het |
Map3k8 |
C |
T |
18: 4,349,076 (GRCm39) |
V81M |
probably damaging |
Het |
Mstn |
T |
C |
1: 53,103,239 (GRCm39) |
S192P |
probably benign |
Het |
Olfml3 |
T |
C |
3: 103,643,176 (GRCm39) |
K402E |
probably damaging |
Het |
Or13a27 |
A |
T |
7: 139,925,268 (GRCm39) |
N211K |
probably damaging |
Het |
Or2n1c |
A |
C |
17: 38,519,588 (GRCm39) |
T151P |
possibly damaging |
Het |
Or2y1c |
C |
T |
11: 49,361,473 (GRCm39) |
T165I |
probably benign |
Het |
Or52i2 |
A |
G |
7: 102,319,417 (GRCm39) |
S97G |
probably benign |
Het |
Or7g17 |
T |
C |
9: 18,768,530 (GRCm39) |
I194T |
not run |
Het |
Or8k25 |
T |
C |
2: 86,244,330 (GRCm39) |
E22G |
probably null |
Het |
Pde4a |
T |
C |
9: 21,117,618 (GRCm39) |
S627P |
probably damaging |
Het |
Pdxdc1 |
A |
G |
16: 13,697,374 (GRCm39) |
I102T |
probably damaging |
Het |
Phldb2 |
A |
G |
16: 45,645,925 (GRCm39) |
S174P |
probably damaging |
Het |
Pla2g4e |
C |
T |
2: 120,021,680 (GRCm39) |
V143I |
probably damaging |
Het |
Pou4f2 |
C |
T |
8: 79,162,735 (GRCm39) |
|
probably null |
Het |
Ppl |
C |
T |
16: 4,920,235 (GRCm39) |
V387M |
possibly damaging |
Het |
Pramel43 |
A |
T |
5: 94,760,655 (GRCm39) |
D340E |
probably benign |
Het |
Rarg |
A |
T |
15: 102,160,852 (GRCm39) |
|
probably null |
Het |
Ryr1 |
T |
C |
7: 28,758,936 (GRCm39) |
Y3414C |
probably damaging |
Het |
Serpinb8 |
T |
A |
1: 107,535,053 (GRCm39) |
*375K |
probably null |
Het |
Sim1 |
C |
T |
10: 50,785,614 (GRCm39) |
H228Y |
probably benign |
Het |
Spag4 |
A |
T |
2: 155,907,541 (GRCm39) |
H87L |
probably benign |
Het |
Ttc17 |
A |
T |
2: 94,205,479 (GRCm39) |
L289Q |
probably damaging |
Het |
Ubac2 |
T |
C |
14: 122,142,586 (GRCm39) |
L28P |
probably damaging |
Het |
Vmn2r31 |
C |
A |
7: 7,387,775 (GRCm39) |
A599S |
possibly damaging |
Het |
Vps13c |
T |
C |
9: 67,847,826 (GRCm39) |
V2196A |
probably benign |
Het |
Zswim5 |
A |
T |
4: 116,833,102 (GRCm39) |
I612F |
probably damaging |
Het |
Zzef1 |
T |
A |
11: 72,765,830 (GRCm39) |
H1452Q |
probably benign |
Het |
|
Other mutations in Bpifb5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01543:Bpifb5
|
APN |
2 |
154,075,169 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL01676:Bpifb5
|
APN |
2 |
154,070,969 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL02065:Bpifb5
|
APN |
2 |
154,069,103 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02141:Bpifb5
|
APN |
2 |
154,071,477 (GRCm39) |
splice site |
probably null |
|
IGL02244:Bpifb5
|
APN |
2 |
154,067,068 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03118:Bpifb5
|
APN |
2 |
154,078,673 (GRCm39) |
splice site |
probably benign |
|
A4554:Bpifb5
|
UTSW |
2 |
154,069,100 (GRCm39) |
missense |
possibly damaging |
0.71 |
R0022:Bpifb5
|
UTSW |
2 |
154,072,268 (GRCm39) |
missense |
probably damaging |
0.98 |
R0492:Bpifb5
|
UTSW |
2 |
154,070,820 (GRCm39) |
missense |
probably benign |
0.11 |
R0654:Bpifb5
|
UTSW |
2 |
154,070,820 (GRCm39) |
missense |
probably benign |
0.11 |
R0692:Bpifb5
|
UTSW |
2 |
154,076,616 (GRCm39) |
missense |
probably benign |
0.33 |
R0707:Bpifb5
|
UTSW |
2 |
154,070,820 (GRCm39) |
missense |
probably benign |
0.11 |
R0898:Bpifb5
|
UTSW |
2 |
154,075,254 (GRCm39) |
missense |
probably benign |
|
R1534:Bpifb5
|
UTSW |
2 |
154,071,419 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1539:Bpifb5
|
UTSW |
2 |
154,065,776 (GRCm39) |
missense |
probably benign |
|
R1874:Bpifb5
|
UTSW |
2 |
154,069,122 (GRCm39) |
splice site |
probably benign |
|
R1971:Bpifb5
|
UTSW |
2 |
154,072,264 (GRCm39) |
missense |
probably benign |
0.18 |
R2001:Bpifb5
|
UTSW |
2 |
154,075,199 (GRCm39) |
missense |
possibly damaging |
0.53 |
R3013:Bpifb5
|
UTSW |
2 |
154,070,775 (GRCm39) |
missense |
possibly damaging |
0.59 |
R3916:Bpifb5
|
UTSW |
2 |
154,070,101 (GRCm39) |
missense |
probably benign |
|
R4499:Bpifb5
|
UTSW |
2 |
154,082,678 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5250:Bpifb5
|
UTSW |
2 |
154,066,881 (GRCm39) |
missense |
probably benign |
|
R6301:Bpifb5
|
UTSW |
2 |
154,072,139 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6836:Bpifb5
|
UTSW |
2 |
154,069,985 (GRCm39) |
missense |
probably benign |
0.02 |
R6869:Bpifb5
|
UTSW |
2 |
154,075,143 (GRCm39) |
missense |
probably benign |
0.33 |
R7014:Bpifb5
|
UTSW |
2 |
154,066,876 (GRCm39) |
nonsense |
probably null |
|
R7427:Bpifb5
|
UTSW |
2 |
154,067,042 (GRCm39) |
missense |
probably benign |
|
R7428:Bpifb5
|
UTSW |
2 |
154,067,042 (GRCm39) |
missense |
probably benign |
|
R7439:Bpifb5
|
UTSW |
2 |
154,070,853 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7448:Bpifb5
|
UTSW |
2 |
154,072,105 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7935:Bpifb5
|
UTSW |
2 |
154,070,975 (GRCm39) |
missense |
probably benign |
0.01 |
R8964:Bpifb5
|
UTSW |
2 |
154,072,198 (GRCm39) |
missense |
possibly damaging |
0.96 |
R9049:Bpifb5
|
UTSW |
2 |
154,070,096 (GRCm39) |
missense |
probably benign |
0.00 |
R9058:Bpifb5
|
UTSW |
2 |
154,080,817 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9349:Bpifb5
|
UTSW |
2 |
154,067,005 (GRCm39) |
missense |
possibly damaging |
0.96 |
T0975:Bpifb5
|
UTSW |
2 |
154,071,384 (GRCm39) |
splice site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGATCTTGGCTCAGTACCAC -3'
(R):5'- TTTGAAGGAGAGGCAGCCCTAG -3'
Sequencing Primer
(F):5'- GAGCTCTCCTAGATTCTAATGCAAGC -3'
(R):5'- TAGCCCAGAGAAGGACCACTG -3'
|
Posted On |
2019-06-26 |