Incidental Mutation 'R9528:Bpifb9b'
| ID |
719330 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bpifb9b
|
| Ensembl Gene |
ENSMUSG00000067996 |
| Gene Name |
BPI fold containing family B, member 9B |
| Synonyms |
5430413K10Rik, OTTMUSG00000015915 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
R9528 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
154149164-154162564 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 154153297 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 121
(E121G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086311
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088921]
|
| AlphaFold |
A2AJD1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088921
AA Change: E121G
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000086311
Gene: ENSMUSG00000067996
AA Change: E121G
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030452D12Rik |
A |
T |
8: 107,231,129 (GRCm39) |
D105V |
unknown |
Het |
| Abi2 |
T |
C |
1: 60,473,453 (GRCm39) |
S57P |
probably damaging |
Het |
| Acap2 |
C |
A |
16: 30,929,908 (GRCm39) |
K358N |
possibly damaging |
Het |
| Adgrd1 |
A |
G |
5: 129,256,740 (GRCm39) |
Y703C |
probably benign |
Het |
| Alpi |
A |
G |
1: 87,026,772 (GRCm39) |
|
probably null |
Het |
| Btnl1 |
T |
A |
17: 34,603,352 (GRCm39) |
F338I |
possibly damaging |
Het |
| Clptm1l |
G |
A |
13: 73,760,550 (GRCm39) |
S311N |
possibly damaging |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Col6a3 |
T |
A |
1: 90,731,789 (GRCm39) |
K1488M |
probably damaging |
Het |
| Crot |
A |
T |
5: 9,043,575 (GRCm39) |
Y16N |
possibly damaging |
Het |
| Dnajc13 |
T |
C |
9: 104,114,904 (GRCm39) |
S56G |
probably benign |
Het |
| Dpep3 |
C |
A |
8: 106,704,251 (GRCm39) |
A230S |
probably benign |
Het |
| Gabrr2 |
T |
C |
4: 33,081,483 (GRCm39) |
I173T |
probably benign |
Het |
| Klhl5 |
T |
C |
5: 65,313,586 (GRCm39) |
|
probably null |
Het |
| Lekr1 |
T |
C |
3: 65,591,608 (GRCm39) |
F115S |
unknown |
Het |
| Lipc |
A |
T |
9: 70,841,841 (GRCm39) |
M1K |
probably null |
Het |
| Lrfn5 |
T |
A |
12: 61,886,408 (GRCm39) |
N65K |
probably benign |
Het |
| Mmp17 |
G |
C |
5: 129,683,392 (GRCm39) |
E509D |
probably benign |
Het |
| Myo1f |
T |
C |
17: 33,797,156 (GRCm39) |
|
probably null |
Het |
| Or10h28 |
T |
A |
17: 33,488,445 (GRCm39) |
V249E |
probably damaging |
Het |
| Or14a258 |
T |
A |
7: 86,035,059 (GRCm39) |
R270* |
probably null |
Het |
| Or1o3 |
T |
A |
17: 37,574,087 (GRCm39) |
H156L |
probably benign |
Het |
| Or7g32 |
A |
G |
9: 19,389,444 (GRCm39) |
F34S |
probably damaging |
Het |
| Pclo |
G |
A |
5: 14,727,691 (GRCm39) |
R2183Q |
unknown |
Het |
| Plec |
T |
A |
15: 76,061,033 (GRCm39) |
H2968L |
possibly damaging |
Het |
| Ppp2r1a |
A |
G |
17: 21,176,153 (GRCm39) |
E125G |
probably benign |
Het |
| Prkcd |
T |
C |
14: 30,323,768 (GRCm39) |
D458G |
probably damaging |
Het |
| Ptch1 |
A |
C |
13: 63,661,615 (GRCm39) |
N1174K |
probably benign |
Het |
| Sarnp |
A |
G |
10: 128,708,326 (GRCm39) |
R180G |
probably damaging |
Het |
| Secisbp2 |
A |
G |
13: 51,810,979 (GRCm39) |
K214E |
possibly damaging |
Het |
| Sorl1 |
C |
A |
9: 41,933,631 (GRCm39) |
|
probably null |
Het |
| Speg |
T |
A |
1: 75,364,447 (GRCm39) |
I276N |
possibly damaging |
Het |
| Txnrd3 |
A |
G |
6: 89,649,954 (GRCm39) |
Y518C |
probably damaging |
Het |
| Unc13c |
T |
A |
9: 73,837,960 (GRCm39) |
I964F |
possibly damaging |
Het |
| Wars2 |
A |
G |
3: 99,111,922 (GRCm39) |
H140R |
possibly damaging |
Het |
| Zfp148 |
T |
A |
16: 33,316,660 (GRCm39) |
I444N |
probably benign |
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 |
|
R5438:Bpifb9b
|
UTSW |
2 |
154,151,288 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTGCCCCATATTTCAAGATGC -3'
(R):5'- TCTCCACCGAGGTTTAGTAGG -3'
Sequencing Primer
(F):5'- TCAAGATGCTATCTTCCAGGAAG -3'
(R):5'- AGGTTTAGTAGGCCGCCCAG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation