Incidental Mutation 'R2857:Bpifa6'
| ID |
252453 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bpifa6
|
| Ensembl Gene |
ENSMUSG00000078998 |
| Gene Name |
BPI fold containing family A, member 6 |
| Synonyms |
Gm5840 |
| MMRRC Submission |
040447-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R2857 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
153816865-153842415 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 153831194 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 253
(M253I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105375
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109753]
|
| AlphaFold |
Q0VGU8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109753
AA Change: M253I
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000105375
Gene: ENSMUSG00000078998
AA Change: M253I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:LBP_BPI_CETP
|
176 |
319 |
1.4e-9 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A330087D11Rik |
A |
T |
7: 29,273,303 (GRCm39) |
|
noncoding transcript |
Het |
| Amfr |
A |
T |
8: 94,731,842 (GRCm39) |
N11K |
probably damaging |
Het |
| C330018D20Rik |
A |
G |
18: 57,095,531 (GRCm39) |
L18P |
probably benign |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cdh23 |
C |
T |
10: 60,218,432 (GRCm39) |
|
probably null |
Het |
| Ceacam1 |
T |
A |
7: 25,173,442 (GRCm39) |
I249F |
probably damaging |
Het |
| Cfap54 |
C |
T |
10: 92,881,144 (GRCm39) |
R348Q |
probably damaging |
Het |
| Cfap91 |
A |
C |
16: 38,123,075 (GRCm39) |
L651R |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cuzd1 |
C |
T |
7: 130,917,863 (GRCm39) |
V246M |
probably damaging |
Het |
| Ehd2 |
A |
T |
7: 15,698,054 (GRCm39) |
V61E |
probably damaging |
Het |
| Erich5 |
C |
T |
15: 34,471,560 (GRCm39) |
T263I |
probably damaging |
Het |
| Fbxo36 |
A |
G |
1: 84,874,316 (GRCm39) |
K104R |
probably benign |
Het |
| Fibin |
C |
T |
2: 110,192,542 (GRCm39) |
R200H |
probably damaging |
Het |
| Gad2 |
A |
C |
2: 22,563,987 (GRCm39) |
M397L |
probably benign |
Het |
| Garin3 |
T |
C |
11: 46,296,039 (GRCm39) |
I137T |
probably damaging |
Het |
| Iqgap3 |
C |
A |
3: 88,014,903 (GRCm39) |
S873* |
probably null |
Het |
| Kcnh8 |
A |
G |
17: 53,284,961 (GRCm39) |
D977G |
probably benign |
Het |
| Mau2 |
T |
C |
8: 70,472,474 (GRCm39) |
M570V |
probably benign |
Het |
| Mrgprb4 |
T |
A |
7: 47,848,084 (GRCm39) |
R281S |
possibly damaging |
Het |
| Mthfd1 |
T |
C |
12: 76,335,699 (GRCm39) |
Y258H |
probably damaging |
Het |
| Nexn |
C |
T |
3: 151,953,680 (GRCm39) |
E247K |
probably damaging |
Het |
| Or11g27 |
T |
A |
14: 50,770,897 (GRCm39) |
N9K |
probably benign |
Het |
| Or3a10 |
C |
T |
11: 73,935,653 (GRCm39) |
G149D |
possibly damaging |
Het |
| Or9e1 |
T |
A |
11: 58,732,708 (GRCm39) |
V256E |
probably benign |
Het |
| Phrf1 |
T |
A |
7: 140,839,593 (GRCm39) |
|
probably benign |
Het |
| Prc1 |
A |
G |
7: 79,961,969 (GRCm39) |
N52S |
probably damaging |
Het |
| Psd |
G |
C |
19: 46,312,859 (GRCm39) |
S170R |
probably benign |
Het |
| Riok1 |
T |
C |
13: 38,233,053 (GRCm39) |
F229L |
probably damaging |
Het |
| Slco1a7 |
A |
G |
6: 141,690,264 (GRCm39) |
V163A |
probably benign |
Het |
| Stat2 |
A |
G |
10: 128,112,770 (GRCm39) |
|
probably null |
Het |
| Sycp3 |
A |
G |
10: 88,303,234 (GRCm39) |
E166G |
probably damaging |
Het |
| Szt2 |
G |
A |
4: 118,226,599 (GRCm39) |
T510I |
probably damaging |
Het |
| Trank1 |
A |
T |
9: 111,196,001 (GRCm39) |
T1342S |
probably benign |
Het |
| Trav3-1 |
C |
A |
14: 52,818,515 (GRCm39) |
A63E |
probably benign |
Het |
| Trim34b |
A |
T |
7: 103,985,439 (GRCm39) |
N358I |
probably benign |
Het |
| Trmt11 |
G |
C |
10: 30,423,744 (GRCm39) |
P387R |
probably damaging |
Het |
| Vmn2r82 |
T |
A |
10: 79,217,090 (GRCm39) |
I474N |
probably damaging |
Het |
| Vrk2 |
C |
A |
11: 26,433,324 (GRCm39) |
S286I |
possibly damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,023,796 (GRCm39) |
I2451N |
probably benign |
Het |
| Zfp326 |
G |
A |
5: 106,036,395 (GRCm39) |
R102H |
probably benign |
Het |
|
| Other mutations in Bpifa6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00910:Bpifa6
|
APN |
2 |
153,832,386 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01805:Bpifa6
|
APN |
2 |
153,826,832 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02246:Bpifa6
|
APN |
2 |
153,831,196 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02275:Bpifa6
|
APN |
2 |
153,834,192 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL02405:Bpifa6
|
APN |
2 |
153,832,782 (GRCm39) |
nonsense |
probably null |
|
|
IGL02587:Bpifa6
|
APN |
2 |
153,831,130 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03365:Bpifa6
|
APN |
2 |
153,831,204 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
F6893:Bpifa6
|
UTSW |
2 |
153,829,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4976:Bpifa6
|
UTSW |
2 |
153,828,318 (GRCm39) |
missense |
probably benign |
|
|
FR4976:Bpifa6
|
UTSW |
2 |
153,828,296 (GRCm39) |
missense |
probably benign |
|
|
R0131:Bpifa6
|
UTSW |
2 |
153,824,851 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0131:Bpifa6
|
UTSW |
2 |
153,824,851 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0132:Bpifa6
|
UTSW |
2 |
153,824,851 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0799:Bpifa6
|
UTSW |
2 |
153,834,192 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1468:Bpifa6
|
UTSW |
2 |
153,831,192 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1468:Bpifa6
|
UTSW |
2 |
153,831,192 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1767:Bpifa6
|
UTSW |
2 |
153,829,147 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2255:Bpifa6
|
UTSW |
2 |
153,832,815 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3430:Bpifa6
|
UTSW |
2 |
153,831,171 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4616:Bpifa6
|
UTSW |
2 |
153,824,908 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5420:Bpifa6
|
UTSW |
2 |
153,831,250 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6224:Bpifa6
|
UTSW |
2 |
153,829,073 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6483:Bpifa6
|
UTSW |
2 |
153,832,354 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6552:Bpifa6
|
UTSW |
2 |
153,829,078 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7061:Bpifa6
|
UTSW |
2 |
153,834,236 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7378:Bpifa6
|
UTSW |
2 |
153,828,353 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7472:Bpifa6
|
UTSW |
2 |
153,831,249 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8313:Bpifa6
|
UTSW |
2 |
153,831,178 (GRCm39) |
nonsense |
probably null |
|
|
R9193:Bpifa6
|
UTSW |
2 |
153,826,740 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9309:Bpifa6
|
UTSW |
2 |
153,834,207 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9316:Bpifa6
|
UTSW |
2 |
153,828,383 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGCCCAGACCTGTTTGC -3'
(R):5'- CTCCTTGAGACAGGAGCTTGAC -3'
Sequencing Primer
(F):5'- CTGTTTGCAAGTCCCAGTGAAAC -3'
(R):5'- CAGGGCATTAAAACACTAGTGGC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation