Incidental Mutation 'IGL02410:Bnip3'
| ID |
292247 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bnip3
|
| Ensembl Gene |
ENSMUSG00000078566 |
| Gene Name |
BCL2/adenovirus E1B interacting protein 3 |
| Synonyms |
Nip3 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.519)
|
| Stock # |
IGL02410
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
138492565-138511235 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 138500528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 21
(G21C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148170
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106112]
[ENSMUST00000130500]
|
| AlphaFold |
O55003 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106112
AA Change: G21C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101718
Gene: ENSMUSG00000078566
AA Change: G21C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BNIP3
|
1 |
186 |
7.9e-84 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125359
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130500
AA Change: G21C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141223
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148970
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210413
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210611
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is encodes a mitochondrial protein that contains a BH3 domain and acts as a pro-apoptotic factor. The encoded protein interacts with anti-apoptotic proteins, including the E1B 19 kDa protein and Bcl2. This gene is silenced in tumors by DNA methylation. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased post-ischemic ventricular remodeling. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
G |
A |
1: 165,337,977 (GRCm39) |
C197Y |
probably damaging |
Het |
| Ano2 |
A |
G |
6: 125,792,496 (GRCm39) |
|
probably null |
Het |
| Aqr |
A |
G |
2: 113,967,398 (GRCm39) |
V539A |
possibly damaging |
Het |
| Cul1 |
T |
A |
6: 47,461,948 (GRCm39) |
M37K |
probably damaging |
Het |
| Dazl |
T |
C |
17: 50,600,426 (GRCm39) |
|
probably benign |
Het |
| Dsg2 |
A |
G |
18: 20,735,189 (GRCm39) |
T1056A |
probably benign |
Het |
| Ewsr1 |
A |
G |
11: 5,043,863 (GRCm39) |
|
probably benign |
Het |
| Fam167b |
G |
A |
4: 129,472,011 (GRCm39) |
A53V |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,909,141 (GRCm39) |
Y2287C |
probably damaging |
Het |
| H2-M10.3 |
A |
T |
17: 36,677,428 (GRCm39) |
H283Q |
probably damaging |
Het |
| Hectd2 |
C |
T |
19: 36,572,613 (GRCm39) |
R39* |
probably null |
Het |
| Hnrnph3 |
A |
G |
10: 62,851,503 (GRCm39) |
|
probably benign |
Het |
| Hps4 |
T |
C |
5: 112,518,093 (GRCm39) |
V362A |
probably benign |
Het |
| Igkv9-120 |
A |
C |
6: 68,027,027 (GRCm39) |
|
probably benign |
Het |
| Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
| Lamc3 |
A |
G |
2: 31,795,977 (GRCm39) |
T417A |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,490,648 (GRCm39) |
V1307A |
probably benign |
Het |
| Mpdz |
T |
C |
4: 81,215,730 (GRCm39) |
E1511G |
probably benign |
Het |
| Nprl3 |
A |
T |
11: 32,217,539 (GRCm39) |
M1K |
probably null |
Het |
| Or9i2 |
A |
G |
19: 13,816,495 (GRCm39) |
I14T |
probably benign |
Het |
| Ppp1r15a |
A |
G |
7: 45,173,479 (GRCm39) |
V443A |
probably damaging |
Het |
| Psmd1 |
T |
G |
1: 86,005,159 (GRCm39) |
L198V |
probably damaging |
Het |
| Rapgef4 |
A |
T |
2: 72,056,938 (GRCm39) |
I566F |
possibly damaging |
Het |
| Rbbp8 |
T |
A |
18: 11,865,269 (GRCm39) |
D719E |
probably damaging |
Het |
| Siah2 |
T |
C |
3: 58,583,468 (GRCm39) |
R273G |
probably damaging |
Het |
| Siglecg |
C |
T |
7: 43,058,253 (GRCm39) |
P47S |
probably damaging |
Het |
| Sox6 |
A |
G |
7: 115,085,979 (GRCm39) |
S621P |
probably damaging |
Het |
| Spata31e5 |
A |
G |
1: 28,817,712 (GRCm39) |
S107P |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,555,278 (GRCm39) |
A30576S |
probably benign |
Het |
| Ttyh1 |
A |
G |
7: 4,136,898 (GRCm39) |
|
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,648,194 (GRCm39) |
R4600C |
probably damaging |
Het |
| Usp36 |
C |
T |
11: 118,167,011 (GRCm39) |
V289M |
probably damaging |
Het |
|
| Other mutations in Bnip3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00661:Bnip3
|
APN |
7 |
138,499,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01363:Bnip3
|
APN |
7 |
138,499,777 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03097:Bnip3
|
UTSW |
7 |
138,496,208 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0012:Bnip3
|
UTSW |
7 |
138,500,401 (GRCm39) |
splice site |
probably benign |
|
|
R0012:Bnip3
|
UTSW |
7 |
138,500,401 (GRCm39) |
splice site |
probably benign |
|
|
R0282:Bnip3
|
UTSW |
7 |
138,499,759 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1929:Bnip3
|
UTSW |
7 |
138,496,359 (GRCm39) |
synonymous |
silent |
|
|
R3001:Bnip3
|
UTSW |
7 |
138,496,430 (GRCm39) |
missense |
probably benign |
0.37 |
|
R3002:Bnip3
|
UTSW |
7 |
138,496,430 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4727:Bnip3
|
UTSW |
7 |
138,500,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5029:Bnip3
|
UTSW |
7 |
138,499,848 (GRCm39) |
intron |
probably benign |
|
|
R5088:Bnip3
|
UTSW |
7 |
138,496,337 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6046:Bnip3
|
UTSW |
7 |
138,511,033 (GRCm39) |
intron |
probably benign |
|
|
R8035:Bnip3
|
UTSW |
7 |
138,493,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9682:Bnip3
|
UTSW |
7 |
138,496,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation