Incidental Mutation 'IGL00661:Bnip3'
ID |
9284 |
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 # |
IGL00661
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
138492565-138511235 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 138499801 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 62
(P62L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148170
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106112]
[ENSMUST00000130500]
|
AlphaFold |
O55003 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000106112
AA Change: P62L
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000101718 Gene: ENSMUSG00000078566 AA Change: P62L
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: P62L
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AAdacl4fm3 |
A |
G |
4: 144,430,263 (GRCm39) |
V242A |
possibly damaging |
Het |
Antxr2 |
T |
C |
5: 98,152,155 (GRCm39) |
D152G |
probably benign |
Het |
Blmh |
A |
T |
11: 76,856,758 (GRCm39) |
K118* |
probably null |
Het |
Catsperb |
A |
T |
12: 101,554,357 (GRCm39) |
T684S |
probably damaging |
Het |
Chd3 |
C |
A |
11: 69,248,209 (GRCm39) |
K894N |
possibly damaging |
Het |
Chkb |
T |
A |
15: 89,311,794 (GRCm39) |
R133S |
probably benign |
Het |
Dennd5a |
T |
C |
7: 109,507,579 (GRCm39) |
N803S |
probably benign |
Het |
Dync2li1 |
A |
T |
17: 84,956,668 (GRCm39) |
D276V |
possibly damaging |
Het |
Erap1 |
T |
C |
13: 74,822,908 (GRCm39) |
|
probably benign |
Het |
Hgsnat |
C |
T |
8: 26,462,965 (GRCm39) |
V70M |
probably benign |
Het |
Leprot |
T |
C |
4: 101,509,673 (GRCm39) |
|
probably null |
Het |
Lhcgr |
G |
A |
17: 89,057,546 (GRCm39) |
A315V |
probably benign |
Het |
Lrrn4 |
C |
T |
2: 132,712,588 (GRCm39) |
V412I |
probably benign |
Het |
Macrod2 |
G |
A |
2: 140,261,824 (GRCm39) |
|
probably null |
Het |
Mmaa |
G |
A |
8: 80,008,199 (GRCm39) |
R13C |
probably damaging |
Het |
Plpp4 |
T |
A |
7: 128,918,023 (GRCm39) |
I66N |
probably damaging |
Het |
Prl4a1 |
T |
C |
13: 28,205,359 (GRCm39) |
V108A |
probably benign |
Het |
Prss1 |
G |
T |
6: 41,439,553 (GRCm39) |
K95N |
possibly damaging |
Het |
Rasa2 |
C |
T |
9: 96,459,606 (GRCm39) |
|
probably benign |
Het |
Relb |
A |
G |
7: 19,350,336 (GRCm39) |
V208A |
possibly damaging |
Het |
Sema3d |
T |
C |
5: 12,555,806 (GRCm39) |
S178P |
probably damaging |
Het |
Slc18a1 |
A |
T |
8: 69,526,383 (GRCm39) |
W102R |
probably benign |
Het |
Slc39a8 |
A |
C |
3: 135,563,873 (GRCm39) |
K239N |
probably benign |
Het |
Stap1 |
A |
G |
5: 86,229,132 (GRCm39) |
H100R |
probably benign |
Het |
Suz12 |
T |
A |
11: 79,889,918 (GRCm39) |
V143E |
probably damaging |
Het |
Tmf1 |
A |
G |
6: 97,153,455 (GRCm39) |
V206A |
probably benign |
Het |
Trim16 |
T |
A |
11: 62,728,058 (GRCm39) |
|
probably benign |
Het |
Ube2b |
C |
T |
11: 51,891,119 (GRCm39) |
|
probably null |
Het |
Vmn1r223 |
T |
C |
13: 23,434,254 (GRCm39) |
S283P |
probably damaging |
Het |
Wrn |
T |
A |
8: 33,809,173 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Bnip3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01363:Bnip3
|
APN |
7 |
138,499,777 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02410:Bnip3
|
APN |
7 |
138,500,528 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2012-12-06 |