Incidental Mutation 'IGL03226:Bnip2'
ID |
414857 |
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 # |
IGL03226
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
69896748-69915599 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 69903456 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 36
(D36G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117957
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034754]
[ENSMUST00000085393]
[ENSMUST00000117450]
[ENSMUST00000154772]
[ENSMUST00000165389]
|
AlphaFold |
O54940 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034754
AA Change: D36G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000034754 Gene: ENSMUSG00000011958 AA Change: D36G
Domain | Start | End | E-Value | Type |
SEC14
|
150 |
301 |
3.23e-18 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000085393
AA Change: D36G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000082513 Gene: ENSMUSG00000011958 AA Change: D36G
Domain | Start | End | E-Value | Type |
SEC14
|
150 |
301 |
5.62e-18 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117450
AA Change: D36G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000113466 Gene: ENSMUSG00000011958 AA Change: D36G
Domain | Start | End | E-Value | Type |
SEC14
|
150 |
301 |
1.19e-16 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133307
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143049
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154772
AA Change: D36G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165389
AA Change: D36G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000133200 Gene: ENSMUSG00000011958 AA Change: D36G
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930012K11Rik |
A |
G |
14: 70,395,058 (GRCm39) |
V32A |
probably damaging |
Het |
Als2 |
T |
C |
1: 59,225,679 (GRCm39) |
T944A |
probably benign |
Het |
Bcat2 |
T |
A |
7: 45,237,778 (GRCm39) |
V348E |
probably damaging |
Het |
C2cd5 |
T |
A |
6: 143,018,292 (GRCm39) |
D310V |
possibly damaging |
Het |
Cltc |
G |
A |
11: 86,611,113 (GRCm39) |
T582M |
probably damaging |
Het |
Cplx3 |
A |
T |
9: 57,517,290 (GRCm39) |
Y365N |
probably benign |
Het |
Dync2h1 |
T |
C |
9: 7,125,918 (GRCm39) |
H1896R |
probably benign |
Het |
Efcab5 |
T |
C |
11: 77,028,501 (GRCm39) |
R413G |
possibly damaging |
Het |
Fam131b |
C |
T |
6: 42,295,888 (GRCm39) |
M169I |
possibly damaging |
Het |
Fam241b |
A |
G |
10: 61,945,671 (GRCm39) |
S52P |
probably benign |
Het |
Gpd2 |
G |
A |
2: 57,194,498 (GRCm39) |
|
probably null |
Het |
Gucy1a1 |
T |
A |
3: 82,026,331 (GRCm39) |
Q41L |
probably benign |
Het |
Ifna16 |
T |
C |
4: 88,594,741 (GRCm39) |
D118G |
probably benign |
Het |
Kcnn1 |
T |
C |
8: 71,299,135 (GRCm39) |
|
probably benign |
Het |
Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
Lyst |
A |
T |
13: 13,884,144 (GRCm39) |
H2984L |
probably benign |
Het |
Myh7b |
C |
T |
2: 155,462,403 (GRCm39) |
Q369* |
probably null |
Het |
Nalcn |
A |
C |
14: 123,518,527 (GRCm39) |
W1671G |
probably benign |
Het |
Ndrg2 |
G |
A |
14: 52,144,026 (GRCm39) |
|
probably benign |
Het |
Nfia |
C |
A |
4: 97,951,286 (GRCm39) |
P371Q |
probably damaging |
Het |
Or10d5 |
A |
C |
9: 39,861,719 (GRCm39) |
|
probably null |
Het |
Pcdhb22 |
A |
G |
18: 37,652,009 (GRCm39) |
D159G |
probably damaging |
Het |
Plekhm3 |
A |
T |
1: 64,960,959 (GRCm39) |
D432E |
possibly damaging |
Het |
Pramel17 |
T |
A |
4: 101,692,594 (GRCm39) |
T469S |
probably benign |
Het |
Rab2a |
A |
G |
4: 8,606,448 (GRCm39) |
N195S |
probably benign |
Het |
Sbf1 |
A |
G |
15: 89,173,308 (GRCm39) |
Y1764H |
possibly damaging |
Het |
Scap |
A |
G |
9: 110,213,335 (GRCm39) |
T1127A |
possibly damaging |
Het |
Shld2 |
T |
C |
14: 33,990,328 (GRCm39) |
T193A |
probably benign |
Het |
Slc45a2 |
A |
G |
15: 11,022,278 (GRCm39) |
D340G |
probably damaging |
Het |
Tbc1d23 |
A |
T |
16: 57,034,625 (GRCm39) |
L58Q |
probably damaging |
Het |
Tmcc1 |
T |
C |
6: 116,110,937 (GRCm39) |
T119A |
probably damaging |
Het |
Tnfsf10 |
C |
A |
3: 27,389,597 (GRCm39) |
Y219* |
probably null |
Het |
Traip |
G |
A |
9: 107,848,192 (GRCm39) |
R437Q |
probably damaging |
Het |
Tyw3 |
T |
C |
3: 154,293,187 (GRCm39) |
T163A |
possibly 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 |
|
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 |
2016-08-02 |