Incidental Mutation 'R1205:Bpifc'
| ID |
100422 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bpifc
|
| Ensembl Gene |
ENSMUSG00000050108 |
| Gene Name |
BPI fold containing family C |
| Synonyms |
Bpil2 |
| MMRRC Submission |
039275-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R1205 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
85795555-85847724 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 85817168 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 230
(D230V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063107
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061699]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061699
AA Change: D230V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063107
Gene: ENSMUSG00000050108
AA Change: D230V
| 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: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
T |
A |
10: 14,310,083 (GRCm39) |
N774I |
probably damaging |
Het |
| Chrna2 |
C |
T |
14: 66,380,812 (GRCm39) |
A27V |
probably benign |
Het |
| Duox1 |
C |
T |
2: 122,158,406 (GRCm39) |
Q630* |
probably null |
Het |
| Dzip3 |
C |
T |
16: 48,772,044 (GRCm39) |
G542R |
probably damaging |
Het |
| Epha3 |
ATGAACTGCT |
AT |
16: 63,418,611 (GRCm39) |
|
probably null |
Het |
| Fnip1 |
G |
T |
11: 54,393,132 (GRCm39) |
V523L |
possibly damaging |
Het |
| Hc |
T |
A |
2: 34,893,536 (GRCm39) |
D1225V |
possibly damaging |
Het |
| Hnrnpu |
C |
T |
1: 178,159,734 (GRCm39) |
|
probably benign |
Het |
| Ift172 |
C |
T |
5: 31,443,136 (GRCm39) |
V125I |
probably benign |
Het |
| Kcnip2 |
T |
A |
19: 45,783,422 (GRCm39) |
Q93L |
probably null |
Het |
| Kif27 |
A |
T |
13: 58,492,019 (GRCm39) |
H373Q |
probably benign |
Het |
| Kl |
T |
C |
5: 150,904,153 (GRCm39) |
S302P |
probably damaging |
Het |
| Lyst |
G |
A |
13: 13,854,787 (GRCm39) |
V2386I |
probably benign |
Het |
| Map4k4 |
G |
A |
1: 40,043,004 (GRCm39) |
A128T |
probably damaging |
Het |
| Marchf6 |
A |
C |
15: 31,469,819 (GRCm39) |
M717R |
probably benign |
Het |
| Morc2b |
A |
G |
17: 33,354,908 (GRCm39) |
Y955H |
probably damaging |
Het |
| Myo7b |
A |
G |
18: 32,127,395 (GRCm39) |
S636P |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,112,996 (GRCm39) |
D4266V |
probably damaging |
Het |
| Nynrin |
G |
A |
14: 56,091,646 (GRCm39) |
|
probably benign |
Het |
| Or1j18 |
G |
A |
2: 36,624,767 (GRCm39) |
V145I |
probably benign |
Het |
| Or4c107 |
A |
T |
2: 88,788,932 (GRCm39) |
I41L |
probably benign |
Het |
| Or5b104 |
T |
C |
19: 13,072,899 (GRCm39) |
I38V |
probably benign |
Het |
| Pcdh9 |
A |
G |
14: 94,123,501 (GRCm39) |
S890P |
probably benign |
Het |
| Pcnx1 |
G |
T |
12: 82,003,017 (GRCm39) |
D1052Y |
probably damaging |
Het |
| Pibf1 |
G |
A |
14: 99,338,639 (GRCm39) |
E52K |
probably damaging |
Het |
| Siglec1 |
T |
G |
2: 130,922,384 (GRCm39) |
S564R |
possibly damaging |
Het |
| Sin3a |
T |
A |
9: 57,026,459 (GRCm39) |
V1125E |
probably damaging |
Het |
| Slco4c1 |
G |
T |
1: 96,795,613 (GRCm39) |
D148E |
probably damaging |
Het |
| Spag6l |
A |
T |
16: 16,605,171 (GRCm39) |
L127Q |
probably damaging |
Het |
| Syne4 |
C |
A |
7: 30,014,761 (GRCm39) |
T68N |
probably damaging |
Het |
| Tas2r134 |
A |
G |
2: 51,517,998 (GRCm39) |
Y159C |
probably benign |
Het |
| Tasor |
A |
T |
14: 27,183,275 (GRCm39) |
D578V |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,668,079 (GRCm39) |
L867S |
probably benign |
Het |
| Tmem132a |
C |
A |
19: 10,836,448 (GRCm39) |
R694L |
probably benign |
Het |
| Ttc28 |
C |
T |
5: 111,433,635 (GRCm39) |
P2192L |
probably benign |
Het |
| Ttc34 |
T |
G |
4: 154,946,671 (GRCm39) |
V857G |
probably benign |
Het |
| Ugt1a7c |
A |
T |
1: 88,023,678 (GRCm39) |
H279L |
probably benign |
Het |
| Vmn1r32 |
G |
A |
6: 66,530,539 (GRCm39) |
T79I |
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,617,905 (GRCm39) |
V2960D |
probably damaging |
Het |
| Wee2 |
G |
T |
6: 40,420,875 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
R8364:Bpifc
|
UTSW |
10 |
85,797,891 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- AACATGCGGCAGGTGCTATAGG -3'
(R):5'- CCCCGAGAGTTGAGAACATTTGAACC -3'
Sequencing Primer
(F):5'- GGTGCTATAGGAAATGAAATTGCTTG -3'
(R):5'- GTTGAGAACATTTGAACCATTTACC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation