Incidental Mutation 'IGL01805:Bpifa6'
| ID |
155658 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bpifa6
|
| Ensembl Gene |
ENSMUSG00000078998 |
| Gene Name |
BPI fold containing family A, member 6 |
| Synonyms |
Gm5840 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
IGL01805
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
153816865-153842415 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 153826832 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 66
(T66A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105375
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109753]
|
| AlphaFold |
Q0VGU8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109753
AA Change: T66A
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000105375
Gene: ENSMUSG00000078998
AA Change: T66A
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019D03Rik |
T |
C |
1: 52,964,677 (GRCm39) |
D17G |
possibly damaging |
Het |
| Adam28 |
G |
T |
14: 68,879,540 (GRCm39) |
S169R |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,120,672 (GRCm39) |
M855T |
possibly damaging |
Het |
| Apc |
C |
A |
18: 34,451,271 (GRCm39) |
N2688K |
probably benign |
Het |
| Arhgap23 |
T |
A |
11: 97,383,428 (GRCm39) |
|
probably benign |
Het |
| C1qtnf1 |
T |
A |
11: 118,338,993 (GRCm39) |
L221Q |
probably damaging |
Het |
| Ccdc175 |
T |
A |
12: 72,176,003 (GRCm39) |
|
probably benign |
Het |
| Ccl1 |
C |
A |
11: 82,068,958 (GRCm39) |
M26I |
possibly damaging |
Het |
| Dnah10 |
T |
A |
5: 124,860,985 (GRCm39) |
F2123I |
probably damaging |
Het |
| Fancm |
T |
C |
12: 65,160,635 (GRCm39) |
|
probably null |
Het |
| Fstl4 |
C |
A |
11: 53,077,184 (GRCm39) |
A647E |
probably damaging |
Het |
| Hmgb4 |
G |
T |
4: 128,154,015 (GRCm39) |
|
probably benign |
Het |
| Hr |
A |
T |
14: 70,802,737 (GRCm39) |
|
probably benign |
Het |
| Ilrun |
C |
T |
17: 27,986,880 (GRCm39) |
|
probably benign |
Het |
| Kcna4 |
G |
T |
2: 107,126,843 (GRCm39) |
V526L |
probably damaging |
Het |
| Mas1 |
T |
C |
17: 13,061,117 (GRCm39) |
Y102C |
probably damaging |
Het |
| Mucl3 |
T |
A |
17: 35,948,535 (GRCm39) |
T355S |
possibly damaging |
Het |
| Mul1 |
C |
T |
4: 138,166,974 (GRCm39) |
P343S |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 59,023,422 (GRCm39) |
S652G |
probably damaging |
Het |
| Or8g55 |
T |
C |
9: 39,785,075 (GRCm39) |
F168S |
probably damaging |
Het |
| Pjvk |
A |
T |
2: 76,487,858 (GRCm39) |
N250I |
probably benign |
Het |
| Pkd2 |
T |
C |
5: 104,630,959 (GRCm39) |
I461T |
probably benign |
Het |
| Psen2 |
T |
C |
1: 180,057,403 (GRCm39) |
|
probably null |
Het |
| Ralb |
T |
C |
1: 119,403,725 (GRCm39) |
E81G |
probably benign |
Het |
| Slc15a4 |
T |
C |
5: 127,685,900 (GRCm39) |
T261A |
possibly damaging |
Het |
| Vmn2r77 |
G |
A |
7: 86,460,395 (GRCm39) |
V574M |
probably benign |
Het |
| Xrn2 |
A |
G |
2: 146,870,063 (GRCm39) |
I251V |
probably damaging |
Het |
| Zfp974 |
G |
A |
7: 27,611,689 (GRCm39) |
|
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 |
|
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 |
|
R2857:Bpifa6
|
UTSW |
2 |
153,831,194 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation