Incidental Mutation 'R5438:Bpifb9b'
| ID |
428463 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bpifb9b
|
| Ensembl Gene |
ENSMUSG00000067996 |
| Gene Name |
BPI fold containing family B, member 9B |
| Synonyms |
5430413K10Rik, OTTMUSG00000015915 |
| MMRRC Submission |
043003-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
R5438 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
154149164-154162564 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 154151288 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 3
(V3D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086311
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088921]
|
| AlphaFold |
A2AJD1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000088921
AA Change: V3D
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000086311
Gene: ENSMUSG00000067996
AA Change: V3D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
122 |
157 |
N/A |
INTRINSIC |
|
low complexity region
|
167 |
181 |
N/A |
INTRINSIC |
|
low complexity region
|
184 |
203 |
N/A |
INTRINSIC |
|
Pfam:LBP_BPI_CETP
|
216 |
377 |
1.7e-11 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts17 |
C |
A |
7: 66,538,165 (GRCm39) |
Q244K |
probably benign |
Het |
| Arpc2 |
T |
A |
1: 74,275,995 (GRCm39) |
L4Q |
probably null |
Het |
| Atp7b |
C |
T |
8: 22,504,570 (GRCm39) |
V581I |
probably benign |
Het |
| Capn13 |
A |
G |
17: 73,633,479 (GRCm39) |
F525L |
probably benign |
Het |
| Cimip4 |
T |
C |
15: 78,263,040 (GRCm39) |
T180A |
possibly damaging |
Het |
| Cmya5 |
G |
T |
13: 93,231,707 (GRCm39) |
T1127K |
possibly damaging |
Het |
| Col6a4 |
A |
T |
9: 105,890,895 (GRCm39) |
L1800I |
possibly damaging |
Het |
| Cpd |
T |
A |
11: 76,682,792 (GRCm39) |
I1076F |
possibly damaging |
Het |
| Elp4 |
A |
G |
2: 105,734,748 (GRCm39) |
F29S |
probably damaging |
Het |
| Exosc10 |
T |
A |
4: 148,650,799 (GRCm39) |
Y448* |
probably null |
Het |
| Fam219a |
A |
G |
4: 41,520,302 (GRCm39) |
S149P |
probably damaging |
Het |
| Gdap2 |
A |
T |
3: 100,085,629 (GRCm39) |
I184F |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,720,870 (GRCm39) |
N409D |
probably benign |
Het |
| Grin2b |
C |
T |
6: 135,713,304 (GRCm39) |
G859D |
probably damaging |
Het |
| Hvcn1 |
A |
G |
5: 122,376,527 (GRCm39) |
K153R |
probably damaging |
Het |
| Ighv3-1 |
T |
A |
12: 113,928,089 (GRCm39) |
H90L |
probably benign |
Het |
| Kcnn3 |
T |
A |
3: 89,428,605 (GRCm39) |
L277Q |
probably damaging |
Het |
| Lama1 |
T |
A |
17: 68,107,769 (GRCm39) |
S2128T |
possibly damaging |
Het |
| Ltbp1 |
T |
A |
17: 75,598,321 (GRCm39) |
S919T |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,661,455 (GRCm39) |
N1163S |
probably damaging |
Het |
| Mypn |
G |
T |
10: 62,971,618 (GRCm39) |
C807* |
probably null |
Het |
| Or52n5 |
G |
A |
7: 104,588,344 (GRCm39) |
V204I |
probably benign |
Het |
| Or5m8 |
T |
C |
2: 85,822,925 (GRCm39) |
F255L |
probably damaging |
Het |
| Otud7a |
A |
G |
7: 63,407,207 (GRCm39) |
N62S |
unknown |
Het |
| Pcdh18 |
A |
T |
3: 49,710,465 (GRCm39) |
Y283* |
probably null |
Het |
| Ptger2 |
A |
T |
14: 45,227,101 (GRCm39) |
H227L |
possibly damaging |
Het |
| Slc24a5 |
A |
G |
2: 124,910,785 (GRCm39) |
Y72C |
probably damaging |
Het |
| Slc35f2 |
T |
A |
9: 53,708,302 (GRCm39) |
D98E |
probably benign |
Het |
| Smad1 |
A |
T |
8: 80,082,949 (GRCm39) |
F184I |
probably benign |
Het |
| Sncg |
C |
T |
14: 34,095,637 (GRCm39) |
V52I |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Zc3h11a |
C |
T |
1: 133,568,385 (GRCm39) |
R88H |
probably damaging |
Het |
| Zfp141 |
A |
G |
7: 42,138,894 (GRCm39) |
V46A |
probably damaging |
Het |
| Zfp472 |
T |
A |
17: 33,197,193 (GRCm39) |
C423S |
probably damaging |
Het |
| Zfp729a |
A |
T |
13: 67,767,705 (GRCm39) |
H841Q |
possibly damaging |
Het |
|
| Other mutations in Bpifb9b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01621:Bpifb9b
|
APN |
2 |
154,158,871 (GRCm39) |
splice site |
probably null |
|
|
IGL02119:Bpifb9b
|
APN |
2 |
154,155,544 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02658:Bpifb9b
|
APN |
2 |
154,153,201 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0230:Bpifb9b
|
UTSW |
2 |
154,158,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0269:Bpifb9b
|
UTSW |
2 |
154,161,545 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0617:Bpifb9b
|
UTSW |
2 |
154,161,545 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1953:Bpifb9b
|
UTSW |
2 |
154,153,234 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2050:Bpifb9b
|
UTSW |
2 |
154,151,524 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2160:Bpifb9b
|
UTSW |
2 |
154,161,595 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2200:Bpifb9b
|
UTSW |
2 |
154,155,574 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2354:Bpifb9b
|
UTSW |
2 |
154,153,662 (GRCm39) |
missense |
probably benign |
|
|
R4755:Bpifb9b
|
UTSW |
2 |
154,161,614 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4872:Bpifb9b
|
UTSW |
2 |
154,155,551 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4914:Bpifb9b
|
UTSW |
2 |
154,156,026 (GRCm39) |
splice site |
probably null |
|
|
R4915:Bpifb9b
|
UTSW |
2 |
154,156,026 (GRCm39) |
splice site |
probably null |
|
|
R4917:Bpifb9b
|
UTSW |
2 |
154,156,026 (GRCm39) |
splice site |
probably null |
|
|
R4918:Bpifb9b
|
UTSW |
2 |
154,156,026 (GRCm39) |
splice site |
probably null |
|
|
R4950:Bpifb9b
|
UTSW |
2 |
154,153,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5507:Bpifb9b
|
UTSW |
2 |
154,158,947 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6255:Bpifb9b
|
UTSW |
2 |
154,151,284 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7130:Bpifb9b
|
UTSW |
2 |
154,153,592 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7161:Bpifb9b
|
UTSW |
2 |
154,155,535 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7736:Bpifb9b
|
UTSW |
2 |
154,154,025 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8536:Bpifb9b
|
UTSW |
2 |
154,158,197 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9134:Bpifb9b
|
UTSW |
2 |
154,151,441 (GRCm39) |
missense |
probably benign |
|
|
R9348:Bpifb9b
|
UTSW |
2 |
154,160,766 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9528:Bpifb9b
|
UTSW |
2 |
154,153,297 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACTGTCATGTATCAGACCAAATCC -3'
(R):5'- GTGCACACTTGGCACCTTTG -3'
Sequencing Primer
(F):5'- TGTATCAGACCAAATCCCCAAGAATG -3'
(R):5'- TACAGGCCTTTTAGGAGGTAAC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation