Incidental Mutation 'R5250:Bpifb5'
ID |
398914 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bpifb5
|
Ensembl Gene |
ENSMUSG00000038572 |
Gene Name |
BPI fold containing family B, member 5 |
Synonyms |
BC018465 |
MMRRC Submission |
042821-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5250 (G1)
|
Quality Score |
221 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
154065662-154082822 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 154066881 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Tyrosine
at position 45
(N45Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046683
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028987]
[ENSMUST00000045959]
[ENSMUST00000081816]
|
AlphaFold |
Q3UQ05 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028987
|
SMART Domains |
Protein: ENSMUSP00000028987 Gene: ENSMUSG00000027485
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
BPI1
|
36 |
256 |
3.3e-40 |
SMART |
Pfam:LBP_BPI_CETP_C
|
331 |
470 |
1.6e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000045959
AA Change: N45Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000046683 Gene: ENSMUSG00000038572 AA Change: N45Y
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000081816
|
SMART Domains |
Protein: ENSMUSP00000080501 Gene: ENSMUSG00000027485
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
BPI1
|
36 |
256 |
3.3e-40 |
SMART |
Pfam:LBP_BPI_CETP_C
|
331 |
470 |
1.6e-8 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123017
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
Validation Efficiency |
100% (60/60) |
Allele List at MGI |
All alleles(1) : Targeted, other(1) |
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl1 |
A |
T |
4: 86,135,182 (GRCm39) |
K236* |
probably null |
Het |
Adgre5 |
A |
G |
8: 84,460,069 (GRCm39) |
V109A |
probably benign |
Het |
Adora2a |
T |
C |
10: 75,161,882 (GRCm39) |
I7T |
probably damaging |
Het |
Ankrd6 |
A |
G |
4: 32,860,335 (GRCm39) |
V36A |
probably damaging |
Het |
Arhgef2 |
T |
C |
3: 88,540,955 (GRCm39) |
|
probably null |
Het |
Atg14 |
G |
A |
14: 47,805,656 (GRCm39) |
R70C |
probably damaging |
Het |
Atg2b |
G |
A |
12: 105,602,024 (GRCm39) |
R1651W |
probably damaging |
Het |
Atp6v0a1 |
T |
A |
11: 100,933,870 (GRCm39) |
V553D |
possibly damaging |
Het |
Bard1 |
G |
A |
1: 71,113,722 (GRCm39) |
L420F |
probably damaging |
Het |
Bcat1 |
C |
G |
6: 144,993,165 (GRCm39) |
|
probably null |
Het |
Btbd17 |
G |
T |
11: 114,682,234 (GRCm39) |
|
probably benign |
Het |
Ccdc24 |
T |
C |
4: 117,726,826 (GRCm39) |
T296A |
possibly damaging |
Het |
Col11a1 |
A |
G |
3: 114,010,819 (GRCm39) |
|
probably benign |
Het |
Cspg4b |
A |
G |
13: 113,456,305 (GRCm39) |
N784D |
possibly damaging |
Het |
Dhx38 |
A |
T |
8: 110,283,152 (GRCm39) |
V555D |
probably damaging |
Het |
Dixdc1 |
T |
G |
9: 50,595,035 (GRCm39) |
E230A |
possibly damaging |
Het |
Dnah7b |
T |
G |
1: 46,412,514 (GRCm39) |
V4041G |
probably damaging |
Het |
Dnhd1 |
A |
T |
7: 105,334,968 (GRCm39) |
I1021L |
probably damaging |
Het |
Fgl2 |
A |
G |
5: 21,580,521 (GRCm39) |
S288G |
possibly damaging |
Het |
Flt4 |
T |
A |
11: 49,521,227 (GRCm39) |
I412N |
possibly damaging |
Het |
Gabrb1 |
A |
G |
5: 72,026,922 (GRCm39) |
I141V |
possibly damaging |
Het |
Gpc2 |
A |
G |
5: 138,277,230 (GRCm39) |
Y66H |
probably damaging |
Het |
Hoxd3 |
C |
T |
2: 74,574,650 (GRCm39) |
Q99* |
probably null |
Het |
Inpp5d |
T |
C |
1: 87,637,397 (GRCm39) |
V781A |
probably damaging |
Het |
Larp4b |
T |
C |
13: 9,221,013 (GRCm39) |
|
probably benign |
Het |
Lrrfip1 |
T |
A |
1: 91,043,618 (GRCm39) |
S674R |
possibly damaging |
Het |
Megf6 |
A |
G |
4: 154,340,467 (GRCm39) |
T561A |
possibly damaging |
Het |
Mpo |
A |
T |
11: 87,694,259 (GRCm39) |
Q83L |
probably benign |
Het |
Mucl2 |
T |
C |
15: 103,927,733 (GRCm39) |
N75D |
possibly damaging |
Het |
Myh13 |
C |
T |
11: 67,218,085 (GRCm39) |
Q53* |
probably null |
Het |
Myot |
T |
A |
18: 44,479,137 (GRCm39) |
D291E |
probably damaging |
Het |
Nae1 |
A |
G |
8: 105,257,023 (GRCm39) |
|
probably null |
Het |
Ncoa2 |
A |
T |
1: 13,294,913 (GRCm39) |
S2R |
probably damaging |
Het |
Nktr |
T |
A |
9: 121,578,858 (GRCm39) |
|
probably benign |
Het |
Nrxn1 |
A |
G |
17: 90,842,869 (GRCm39) |
|
probably benign |
Het |
Or10aa3 |
T |
G |
1: 173,878,838 (GRCm39) |
F300V |
probably benign |
Het |
Or14j4 |
A |
G |
17: 37,920,851 (GRCm39) |
S264P |
probably damaging |
Het |
Or5an1b |
T |
C |
19: 12,299,430 (GRCm39) |
T254A |
probably benign |
Het |
P2rx2 |
T |
C |
5: 110,489,454 (GRCm39) |
E160G |
probably damaging |
Het |
Pcdhga11 |
A |
T |
18: 37,890,990 (GRCm39) |
D666V |
probably damaging |
Het |
Pcm1 |
A |
T |
8: 41,765,242 (GRCm39) |
E1484D |
probably damaging |
Het |
Pdia4 |
C |
T |
6: 47,773,619 (GRCm39) |
A577T |
possibly damaging |
Het |
Potefam1 |
T |
G |
2: 111,058,422 (GRCm39) |
T124P |
possibly damaging |
Het |
Ppm1e |
T |
C |
11: 87,121,744 (GRCm39) |
I738V |
probably benign |
Het |
Ppp1r13b |
G |
T |
12: 111,811,394 (GRCm39) |
R165S |
probably benign |
Het |
Rasgrp2 |
T |
C |
19: 6,454,343 (GRCm39) |
W129R |
probably damaging |
Het |
Smurf2 |
A |
G |
11: 106,747,005 (GRCm39) |
|
probably null |
Het |
Spmap1 |
C |
A |
11: 97,663,553 (GRCm39) |
W99L |
possibly damaging |
Het |
Ubr2 |
G |
T |
17: 47,241,368 (GRCm39) |
Q1729K |
probably benign |
Het |
Zfp260 |
T |
A |
7: 29,804,392 (GRCm39) |
H97Q |
probably damaging |
Het |
Zfp429 |
G |
T |
13: 67,538,638 (GRCm39) |
R269S |
probably benign |
Het |
Zfp568 |
T |
C |
7: 29,716,655 (GRCm39) |
V185A |
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 |
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 |
|
R7300:Bpifb5
|
UTSW |
2 |
154,070,066 (GRCm39) |
missense |
possibly damaging |
0.85 |
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'- ACTGACCTATGGGCTGAGCTAG -3'
(R):5'- AGCTCAGGCATAGTCTTCCC -3'
Sequencing Primer
(F):5'- CTGGGCGATACATTGCGATC -3'
(R):5'- TCAGGCATAGTCTTCCCAGAGAG -3'
|
Posted On |
2016-07-06 |