Incidental Mutation 'R3687:Bnip2'
| ID |
269570 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bnip2
|
| Ensembl Gene |
ENSMUSG00000011958 |
| Gene Name |
BCL2/adenovirus E1B interacting protein 2 |
| Synonyms |
5730523P12Rik |
| MMRRC Submission |
040683-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3687 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
69896748-69915599 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 69906432 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 118
(Y118N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113466
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034754]
[ENSMUST00000085393]
[ENSMUST00000117450]
[ENSMUST00000154772]
[ENSMUST00000165389]
|
| AlphaFold |
O54940 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034754
AA Change: Y118N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034754
Gene: ENSMUSG00000011958
AA Change: Y118N
| Domain | Start | End | E-Value | Type |
|---|
|
SEC14
|
150 |
301 |
3.23e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085393
AA Change: Y118N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000082513
Gene: ENSMUSG00000011958
AA Change: Y118N
| Domain | Start | End | E-Value | Type |
|---|
|
SEC14
|
150 |
301 |
5.62e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117450
AA Change: Y118N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113466
Gene: ENSMUSG00000011958
AA Change: Y118N
| Domain | Start | End | E-Value | Type |
|---|
|
SEC14
|
150 |
301 |
1.19e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133307
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137472
|
| SMART Domains |
Protein: ENSMUSP00000115106
Gene: ENSMUSG00000011958
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CRAL_TRIO_2
|
1 |
67 |
4.1e-17 |
PFAM |
|
Pfam:CRAL_TRIO
|
2 |
58 |
4.5e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143049
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154772
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165389
AA Change: Y118N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000133200
Gene: ENSMUSG00000011958
AA Change: Y118N
| Domain | Start | End | E-Value | Type |
|---|
|
SEC14
|
150 |
301 |
5.62e-18 |
SMART |
|
| Meta Mutation Damage Score |
0.2563 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
97% (38/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra1 |
G |
A |
7: 139,432,506 (GRCm39) |
V115M |
probably damaging |
Het |
| Atp11c |
T |
C |
X: 59,327,004 (GRCm39) |
Y431C |
probably benign |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| B230307C23Rik |
T |
A |
16: 97,810,199 (GRCm39) |
N62K |
probably benign |
Het |
| Bptf |
C |
A |
11: 106,965,024 (GRCm39) |
R1275L |
probably benign |
Het |
| C2cd3 |
C |
T |
7: 100,085,040 (GRCm39) |
P1544L |
probably benign |
Het |
| Cd44 |
G |
A |
2: 102,731,695 (GRCm39) |
|
probably null |
Het |
| Col10a1 |
A |
G |
10: 34,271,494 (GRCm39) |
T489A |
probably benign |
Het |
| Dgkk |
T |
C |
X: 6,804,631 (GRCm39) |
|
probably benign |
Het |
| Efcab6 |
G |
A |
15: 83,755,479 (GRCm39) |
Q1323* |
probably null |
Het |
| Eftud2 |
T |
C |
11: 102,735,027 (GRCm39) |
E624G |
probably damaging |
Het |
| Elmo3 |
G |
A |
8: 106,035,468 (GRCm39) |
|
probably null |
Het |
| Galnt13 |
A |
T |
2: 54,770,074 (GRCm39) |
T289S |
probably benign |
Het |
| Gm16485 |
T |
C |
9: 8,972,382 (GRCm39) |
|
probably benign |
Het |
| Gm43302 |
A |
T |
5: 105,428,132 (GRCm39) |
V143D |
probably damaging |
Het |
| Gpr18 |
T |
C |
14: 122,149,873 (GRCm39) |
T51A |
probably damaging |
Het |
| Hr |
T |
A |
14: 70,795,236 (GRCm39) |
N289K |
probably damaging |
Het |
| Ighv1-24 |
T |
A |
12: 114,736,700 (GRCm39) |
I67F |
probably damaging |
Het |
| Ksr2 |
A |
G |
5: 117,693,044 (GRCm39) |
Q164R |
probably damaging |
Het |
| Myo3b |
A |
G |
2: 70,075,658 (GRCm39) |
E554G |
probably benign |
Het |
| Or10u4 |
A |
T |
10: 129,802,581 (GRCm39) |
|
probably null |
Het |
| Or5b99 |
G |
A |
19: 12,976,466 (GRCm39) |
G39R |
probably damaging |
Het |
| Or8b101 |
A |
G |
9: 38,020,177 (GRCm39) |
Y60C |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,719,009 (GRCm39) |
T1049A |
unknown |
Het |
| Pkhd1l1 |
T |
C |
15: 44,409,983 (GRCm39) |
S2497P |
probably benign |
Het |
| Ppm1f |
T |
C |
16: 16,741,747 (GRCm39) |
V407A |
probably damaging |
Het |
| Ppox |
A |
G |
1: 171,105,066 (GRCm39) |
L374S |
probably damaging |
Het |
| Prkdc |
T |
C |
16: 15,617,831 (GRCm39) |
Y3221H |
probably benign |
Het |
| Ptprk |
A |
T |
10: 28,349,039 (GRCm39) |
I520F |
probably damaging |
Het |
| Pus10 |
T |
C |
11: 23,617,334 (GRCm39) |
F16L |
probably benign |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rab3d |
A |
T |
9: 21,826,204 (GRCm39) |
M101K |
probably damaging |
Het |
| Rangap1 |
A |
T |
15: 81,602,963 (GRCm39) |
M154K |
possibly damaging |
Het |
| Slc25a17 |
A |
G |
15: 81,211,485 (GRCm39) |
F177S |
probably benign |
Het |
| Tas2r114 |
T |
C |
6: 131,666,231 (GRCm39) |
T266A |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Trem3 |
T |
A |
17: 48,564,955 (GRCm39) |
V152D |
probably damaging |
Het |
| Vmn2r4 |
T |
A |
3: 64,296,896 (GRCm39) |
I630F |
possibly damaging |
Het |
| Vwa5b2 |
C |
A |
16: 20,410,308 (GRCm39) |
|
probably benign |
Het |
| Zfp518b |
A |
T |
5: 38,831,455 (GRCm39) |
H183Q |
probably damaging |
Het |
|
| Other mutations in Bnip2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01767:Bnip2
|
APN |
9 |
69,909,398 (GRCm39) |
splice site |
probably benign |
|
|
IGL01976:Bnip2
|
APN |
9 |
69,908,116 (GRCm39) |
splice site |
probably benign |
|
|
IGL03226:Bnip2
|
APN |
9 |
69,903,456 (GRCm39) |
missense |
probably benign |
0.00 |
|
schmalhans
|
UTSW |
9 |
69,909,393 (GRCm39) |
missense |
probably null |
1.00 |
|
R0243:Bnip2
|
UTSW |
9 |
69,902,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0637:Bnip2
|
UTSW |
9 |
69,910,955 (GRCm39) |
splice site |
probably null |
|
|
R3686:Bnip2
|
UTSW |
9 |
69,906,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4577:Bnip2
|
UTSW |
9 |
69,904,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4974:Bnip2
|
UTSW |
9 |
69,910,716 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5924:Bnip2
|
UTSW |
9 |
69,904,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5957:Bnip2
|
UTSW |
9 |
69,906,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6629:Bnip2
|
UTSW |
9 |
69,909,393 (GRCm39) |
missense |
probably null |
1.00 |
|
R6716:Bnip2
|
UTSW |
9 |
69,910,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7496:Bnip2
|
UTSW |
9 |
69,910,686 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8415:Bnip2
|
UTSW |
9 |
69,910,967 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCTTAAGTAAGAACAAGCCTTTTC -3'
(R):5'- AGCGTTAGATTTTGGACATTGC -3'
Sequencing Primer
(F):5'- GTACTCCCAGATGCTTGGACAC -3'
(R):5'- TGGACATTGCATGTAAAGACCC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation