Incidental Mutation 'IGL01976:Bnip2'
| ID |
182687 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bnip2
|
| Ensembl Gene |
ENSMUSG00000011958 |
| Gene Name |
BCL2/adenovirus E1B interacting protein 2 |
| Synonyms |
5730523P12Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01976
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
69896748-69915599 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 69908116 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133200
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034754]
[ENSMUST00000085393]
[ENSMUST00000117450]
[ENSMUST00000154772]
[ENSMUST00000165389]
|
| AlphaFold |
O54940 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034754
|
| SMART Domains |
Protein: ENSMUSP00000034754
Gene: ENSMUSG00000011958
| Domain | Start | End | E-Value | Type |
|---|
|
SEC14
|
150 |
301 |
3.23e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085393
|
| SMART Domains |
Protein: ENSMUSP00000082513
Gene: ENSMUSG00000011958
| Domain | Start | End | E-Value | Type |
|---|
|
SEC14
|
150 |
301 |
5.62e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117450
|
| SMART Domains |
Protein: ENSMUSP00000113466
Gene: ENSMUSG00000011958
| 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 benign
Transcript: ENSMUST00000165389
|
| SMART Domains |
Protein: ENSMUSP00000133200
Gene: ENSMUSG00000011958
| Domain | Start | End | E-Value | Type |
|---|
|
SEC14
|
150 |
301 |
5.62e-18 |
SMART |
|
| 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 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
T |
C |
6: 85,599,647 (GRCm39) |
V1960A |
possibly damaging |
Het |
| Asph |
A |
T |
4: 9,475,471 (GRCm39) |
N537K |
probably damaging |
Het |
| Cc2d2a |
C |
A |
5: 43,840,457 (GRCm39) |
Q104K |
probably benign |
Het |
| Cd300ld |
A |
G |
11: 114,878,270 (GRCm39) |
S81P |
probably damaging |
Het |
| Clec4a1 |
T |
C |
6: 122,905,033 (GRCm39) |
|
probably benign |
Het |
| Dnajb8 |
T |
C |
6: 88,199,508 (GRCm39) |
S15P |
probably damaging |
Het |
| Erp27 |
C |
A |
6: 136,896,987 (GRCm39) |
V72L |
probably damaging |
Het |
| Gpr156 |
A |
G |
16: 37,799,395 (GRCm39) |
T131A |
probably damaging |
Het |
| Grk1 |
T |
C |
8: 13,465,993 (GRCm39) |
V479A |
probably damaging |
Het |
| H2bc1 |
T |
A |
13: 24,117,982 (GRCm39) |
D53V |
possibly damaging |
Het |
| Hspg2 |
A |
G |
4: 137,289,237 (GRCm39) |
D3784G |
probably damaging |
Het |
| Irf2 |
A |
T |
8: 47,260,260 (GRCm39) |
K26M |
probably damaging |
Het |
| Irx6 |
C |
A |
8: 93,402,717 (GRCm39) |
C27* |
probably null |
Het |
| Izumo1r |
C |
T |
9: 14,812,975 (GRCm39) |
C99Y |
probably damaging |
Het |
| Klrb1a |
T |
A |
6: 128,595,072 (GRCm39) |
T132S |
probably benign |
Het |
| Mmp13 |
C |
T |
9: 7,278,974 (GRCm39) |
|
probably benign |
Het |
| Myo5b |
G |
A |
18: 74,831,348 (GRCm39) |
R766Q |
probably damaging |
Het |
| Myt1 |
T |
C |
2: 181,437,532 (GRCm39) |
L81P |
probably damaging |
Het |
| Nfat5 |
G |
A |
8: 108,094,191 (GRCm39) |
V793I |
probably damaging |
Het |
| Nup210 |
A |
G |
6: 91,030,596 (GRCm39) |
V108A |
possibly damaging |
Het |
| Omd |
T |
A |
13: 49,743,119 (GRCm39) |
Y56* |
probably null |
Het |
| Or4b1d |
A |
G |
2: 89,969,268 (GRCm39) |
S72P |
probably damaging |
Het |
| Pramel27 |
A |
G |
4: 143,579,363 (GRCm39) |
N316S |
probably benign |
Het |
| Psmd9 |
A |
G |
5: 123,372,697 (GRCm39) |
E60G |
probably damaging |
Het |
| Rab11fip1 |
T |
C |
8: 27,642,825 (GRCm39) |
E658G |
possibly damaging |
Het |
| Smchd1 |
T |
A |
17: 71,701,720 (GRCm39) |
K1091* |
probably null |
Het |
| Supt16 |
A |
T |
14: 52,419,764 (GRCm39) |
N111K |
possibly damaging |
Het |
| Trrap |
A |
G |
5: 144,793,799 (GRCm39) |
T3666A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,616,095 (GRCm39) |
D8289G |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,643,438 (GRCm39) |
S4267T |
probably benign |
Het |
| Usp50 |
T |
A |
2: 126,551,386 (GRCm39) |
E31V |
probably benign |
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 |
|
|
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 |
|
R3687: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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation