Incidental Mutation 'R8364:Bpifc'
| ID |
646105 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bpifc
|
| Ensembl Gene |
ENSMUSG00000050108 |
| Gene Name |
BPI fold containing family C |
| Synonyms |
Bpil2 |
| MMRRC Submission |
067873-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R8364 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
85795555-85847724 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 85797891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 456
(I456N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063107
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001834]
[ENSMUST00000061699]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001834
|
| SMART Domains |
Protein: ENSMUSP00000001834
Gene: ENSMUSG00000001783
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RtcB
|
61 |
505 |
3.3e-143 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061699
AA Change: I456N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000063107
Gene: ENSMUSG00000050108
AA Change: I456N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
BPI1
|
33 |
257 |
8.89e-23 |
SMART |
|
BPI2
|
272 |
474 |
2.29e-25 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap1 |
T |
A |
1: 89,815,396 (GRCm39) |
N761K |
probably damaging |
Het |
| Amotl1 |
G |
A |
9: 14,556,218 (GRCm39) |
A36V |
probably benign |
Het |
| Apol7a |
A |
G |
15: 77,273,820 (GRCm39) |
V214A |
possibly damaging |
Het |
| Arhgef25 |
G |
T |
10: 127,025,632 (GRCm39) |
Q3K |
unknown |
Het |
| Cers6 |
C |
T |
2: 68,692,083 (GRCm39) |
A35V |
possibly damaging |
Het |
| Corin |
T |
A |
5: 72,462,274 (GRCm39) |
Y986F |
probably benign |
Het |
| Csmd3 |
A |
T |
15: 48,536,837 (GRCm39) |
Y122N |
probably damaging |
Het |
| Ddit4l |
T |
A |
3: 137,329,996 (GRCm39) |
L18* |
probably null |
Het |
| Epb41l3 |
T |
C |
17: 69,573,429 (GRCm39) |
|
probably null |
Het |
| Fam110a |
C |
T |
2: 151,812,338 (GRCm39) |
R144H |
probably damaging |
Het |
| Greb1l |
G |
T |
18: 10,529,687 (GRCm39) |
V890L |
possibly damaging |
Het |
| Hivep3 |
A |
T |
4: 119,956,639 (GRCm39) |
M1652L |
probably benign |
Het |
| Ighv1-19 |
G |
T |
12: 114,672,546 (GRCm39) |
Q25K |
possibly damaging |
Het |
| Itprid2 |
T |
C |
2: 79,481,787 (GRCm39) |
L489P |
probably damaging |
Het |
| Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
| Krr1 |
A |
G |
10: 111,813,104 (GRCm39) |
R160G |
probably damaging |
Het |
| Lama3 |
A |
G |
18: 12,661,404 (GRCm39) |
D515G |
probably damaging |
Het |
| Lars2 |
G |
T |
9: 123,241,019 (GRCm39) |
G229* |
probably null |
Het |
| Lgalsl |
T |
A |
11: 20,781,009 (GRCm39) |
M1L |
possibly damaging |
Het |
| Lrtm2 |
T |
A |
6: 119,294,259 (GRCm39) |
T291S |
probably benign |
Het |
| Morc2b |
G |
A |
17: 33,357,214 (GRCm39) |
T186I |
probably benign |
Het |
| Mup20 |
G |
T |
4: 61,969,768 (GRCm39) |
S157R |
probably damaging |
Het |
| Nlgn1 |
A |
G |
3: 25,490,140 (GRCm39) |
V529A |
probably benign |
Het |
| Nps |
T |
A |
7: 134,870,543 (GRCm39) |
W22R |
probably benign |
Het |
| Nradd |
C |
A |
9: 110,450,536 (GRCm39) |
V214L |
probably damaging |
Het |
| Ogfrl1 |
G |
A |
1: 23,414,824 (GRCm39) |
Q228* |
probably null |
Het |
| Or10g9 |
T |
C |
9: 39,911,660 (GRCm39) |
T288A |
probably benign |
Het |
| Or56a3b |
T |
A |
7: 104,770,910 (GRCm39) |
I82N |
probably damaging |
Het |
| Or5m11b |
G |
A |
2: 85,806,358 (GRCm39) |
C257Y |
possibly damaging |
Het |
| Ripor2 |
A |
G |
13: 24,894,176 (GRCm39) |
T735A |
possibly damaging |
Het |
| Rnase6 |
C |
A |
14: 51,367,910 (GRCm39) |
P101T |
probably benign |
Het |
| Slc34a2 |
A |
T |
5: 53,225,716 (GRCm39) |
Y455F |
possibly damaging |
Het |
| Stxbp1 |
T |
C |
2: 32,696,774 (GRCm39) |
M330V |
possibly damaging |
Het |
| Sypl2 |
T |
C |
3: 108,125,050 (GRCm39) |
T104A |
possibly damaging |
Het |
| Tenm4 |
G |
A |
7: 96,421,313 (GRCm39) |
|
probably null |
Het |
| Tnfrsf11a |
C |
A |
1: 105,745,412 (GRCm39) |
T150K |
probably damaging |
Het |
| Tpsg1 |
T |
C |
17: 25,593,230 (GRCm39) |
L311P |
possibly damaging |
Het |
| Ttc7b |
T |
C |
12: 100,291,817 (GRCm39) |
S766G |
probably benign |
Het |
| Vmn2r83 |
A |
G |
10: 79,316,037 (GRCm39) |
T478A |
probably benign |
Het |
| Wdr1 |
G |
A |
5: 38,685,192 (GRCm39) |
T593I |
possibly damaging |
Het |
| Zfp407 |
A |
G |
18: 84,570,993 (GRCm39) |
|
probably null |
Het |
| Zfp872 |
G |
A |
9: 22,111,540 (GRCm39) |
G340R |
probably damaging |
Het |
|
| Other mutations in Bpifc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00264:Bpifc
|
APN |
10 |
85,796,392 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01474:Bpifc
|
APN |
10 |
85,836,503 (GRCm39) |
start codon destroyed |
probably damaging |
0.98 |
|
IGL02437:Bpifc
|
APN |
10 |
85,824,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0689:Bpifc
|
UTSW |
10 |
85,796,411 (GRCm39) |
splice site |
probably benign |
|
|
R1205:Bpifc
|
UTSW |
10 |
85,817,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1524:Bpifc
|
UTSW |
10 |
85,813,599 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2033:Bpifc
|
UTSW |
10 |
85,836,496 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3103:Bpifc
|
UTSW |
10 |
85,829,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3609:Bpifc
|
UTSW |
10 |
85,836,502 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R3874:Bpifc
|
UTSW |
10 |
85,827,118 (GRCm39) |
missense |
probably benign |
|
|
R4728:Bpifc
|
UTSW |
10 |
85,827,063 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5079:Bpifc
|
UTSW |
10 |
85,817,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5193:Bpifc
|
UTSW |
10 |
85,836,497 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6280:Bpifc
|
UTSW |
10 |
85,813,576 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6291:Bpifc
|
UTSW |
10 |
85,812,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6945:Bpifc
|
UTSW |
10 |
85,815,078 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7288:Bpifc
|
UTSW |
10 |
85,824,585 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7310:Bpifc
|
UTSW |
10 |
85,798,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7463:Bpifc
|
UTSW |
10 |
85,815,198 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7807:Bpifc
|
UTSW |
10 |
85,812,114 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8004:Bpifc
|
UTSW |
10 |
85,815,148 (GRCm39) |
missense |
probably benign |
|
|
R8225:Bpifc
|
UTSW |
10 |
85,836,431 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8284:Bpifc
|
UTSW |
10 |
85,836,413 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8770:Bpifc
|
UTSW |
10 |
85,801,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9427:Bpifc
|
UTSW |
10 |
85,812,129 (GRCm39) |
missense |
probably benign |
|
|
R9482:Bpifc
|
UTSW |
10 |
85,815,118 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
Z1176:Bpifc
|
UTSW |
10 |
85,801,092 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCATGGTAAGCAGAATAAAGCAC -3'
(R):5'- ACATAGTCAGGCAAGGCTAGTAC -3'
Sequencing Primer
(F):5'- TCGTGGTAAGAGAACTCACTGTCC -3'
(R):5'- TCAGGCAAGGCTAGTACTTAAATG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation