Incidental Mutation 'R9349:Bpifb5'
ID |
707951 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bpifb5
|
Ensembl Gene |
ENSMUSG00000038572 |
Gene Name |
BPI fold containing family B, member 5 |
Synonyms |
BC018465 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9349 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
154065662-154082822 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 154067005 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 86
(L86Q)
|
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 |
possibly damaging
Transcript: ENSMUST00000045959
AA Change: L86Q
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000046683 Gene: ENSMUSG00000038572 AA Change: L86Q
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(1) : Targeted, other(1) |
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A230072I06Rik |
A |
G |
8: 12,329,665 (GRCm39) |
Q40R |
unknown |
Het |
A730015C16Rik |
C |
T |
4: 108,705,053 (GRCm39) |
V89I |
unknown |
Het |
Adam19 |
G |
T |
11: 46,022,570 (GRCm39) |
E508* |
probably null |
Het |
Arhgef33 |
C |
T |
17: 80,644,736 (GRCm39) |
Q22* |
probably null |
Het |
Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
Astn2 |
T |
A |
4: 66,184,492 (GRCm39) |
T202S |
unknown |
Het |
Brpf3 |
G |
A |
17: 29,040,276 (GRCm39) |
S899N |
probably benign |
Het |
Ccl20 |
T |
C |
1: 83,095,586 (GRCm39) |
F49S |
|
Het |
Ctse |
A |
G |
1: 131,592,111 (GRCm39) |
T146A |
probably benign |
Het |
Dhx35 |
T |
C |
2: 158,671,444 (GRCm39) |
S292P |
possibly damaging |
Het |
Fut7 |
C |
T |
2: 25,314,993 (GRCm39) |
P84S |
possibly damaging |
Het |
Gm9736 |
A |
C |
10: 77,586,393 (GRCm39) |
S266A |
unknown |
Het |
Gsdma |
T |
A |
11: 98,566,771 (GRCm39) |
L366Q |
probably benign |
Het |
Ifna15 |
T |
A |
4: 88,476,283 (GRCm39) |
D67V |
probably benign |
Het |
Igkv2-112 |
G |
A |
6: 68,197,678 (GRCm39) |
V117I |
probably benign |
Het |
Kcnh2 |
C |
T |
5: 24,538,003 (GRCm39) |
G120E |
probably damaging |
Het |
Kcnip1 |
T |
G |
11: 33,601,548 (GRCm39) |
Y29S |
probably benign |
Het |
Lrrc37a |
T |
G |
11: 103,388,454 (GRCm39) |
M2324L |
unknown |
Het |
Mettl5 |
T |
A |
2: 69,702,113 (GRCm39) |
D185V |
possibly damaging |
Het |
Mmp1b |
T |
A |
9: 7,369,271 (GRCm39) |
M359L |
probably benign |
Het |
Ndufa5 |
G |
A |
6: 24,522,749 (GRCm39) |
T31I |
probably benign |
Het |
Ngly1 |
T |
A |
14: 16,281,801 (GRCm38) |
C352* |
probably null |
Het |
Or14c45 |
A |
G |
7: 86,176,373 (GRCm39) |
H136R |
probably benign |
Het |
Or51a39 |
A |
T |
7: 102,362,875 (GRCm39) |
C248* |
probably null |
Het |
Pcdhac1 |
C |
T |
18: 37,224,021 (GRCm39) |
A278V |
possibly damaging |
Het |
Ppp2r3c |
T |
A |
12: 55,345,268 (GRCm39) |
K73N |
probably benign |
Het |
Rasgrf1 |
T |
C |
9: 89,884,460 (GRCm39) |
V975A |
probably damaging |
Het |
Rps27rt |
C |
T |
9: 114,811,673 (GRCm39) |
V35M |
probably benign |
Het |
Slc22a8 |
A |
G |
19: 8,571,469 (GRCm39) |
N67D |
probably benign |
Het |
Slc39a6 |
C |
A |
18: 24,718,493 (GRCm39) |
M521I |
probably benign |
Het |
Snx31 |
C |
T |
15: 36,555,430 (GRCm39) |
S39N |
probably damaging |
Het |
Speer1b |
C |
T |
5: 11,823,221 (GRCm39) |
T130I |
possibly damaging |
Het |
Sv2a |
T |
C |
3: 96,096,795 (GRCm39) |
|
probably null |
Het |
Thg1l |
G |
A |
11: 45,846,273 (GRCm39) |
A7V |
probably benign |
Het |
Ttc39c |
C |
T |
18: 12,822,932 (GRCm39) |
Q147* |
probably null |
Het |
Ube2u |
A |
G |
4: 100,407,194 (GRCm39) |
N352D |
unknown |
Het |
Uhrf1 |
T |
C |
17: 56,617,737 (GRCm39) |
V153A |
possibly damaging |
Het |
Wdfy4 |
A |
G |
14: 32,875,996 (GRCm39) |
S143P |
|
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 |
|
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 |
T0975:Bpifb5
|
UTSW |
2 |
154,071,384 (GRCm39) |
splice site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCCAGTGGCTATTTGCTGAATG -3'
(R):5'- TTCAAGGCTGAGGAGATGC -3'
Sequencing Primer
(F):5'- CTGAATGGCTGAATGGACCCTG -3'
(R):5'- ATGCTGTGGACCCCAGGTTG -3'
|
Posted On |
2022-04-18 |