Incidental Mutation 'R5957:Bnip2'
| ID |
471227 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bnip2
|
| Ensembl Gene |
ENSMUSG00000011958 |
| Gene Name |
BCL2/adenovirus E1B interacting protein 2 |
| Synonyms |
5730523P12Rik |
| MMRRC Submission |
043246-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5957 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
69896748-69915599 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 69906520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 147
(I147T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133200
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034754]
[ENSMUST00000085393]
[ENSMUST00000117450]
[ENSMUST00000154772]
[ENSMUST00000165389]
|
| AlphaFold |
O54940 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034754
AA Change: I147T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034754
Gene: ENSMUSG00000011958
AA Change: I147T
| Domain | Start | End | E-Value | Type |
|---|
|
SEC14
|
150 |
301 |
3.23e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085393
AA Change: I147T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082513
Gene: ENSMUSG00000011958
AA Change: I147T
| Domain | Start | End | E-Value | Type |
|---|
|
SEC14
|
150 |
301 |
5.62e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117450
AA Change: I147T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000113466
Gene: ENSMUSG00000011958
AA Change: I147T
| 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: I147T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133200
Gene: ENSMUSG00000011958
AA Change: I147T
| Domain | Start | End | E-Value | Type |
|---|
|
SEC14
|
150 |
301 |
5.62e-18 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.0%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,775,922 (GRCm39) |
T1704A |
probably benign |
Het |
| Adgrg7 |
T |
A |
16: 56,593,790 (GRCm39) |
N142I |
probably damaging |
Het |
| Aldh18a1 |
A |
T |
19: 40,558,981 (GRCm39) |
Y286* |
probably null |
Het |
| Arpp21 |
T |
C |
9: 112,014,754 (GRCm39) |
T17A |
probably benign |
Het |
| Ccr8 |
T |
C |
9: 119,922,893 (GRCm39) |
Y3H |
probably damaging |
Het |
| Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
| Cul7 |
G |
A |
17: 46,968,683 (GRCm39) |
G553S |
probably damaging |
Het |
| Cyp21a1 |
A |
G |
17: 35,022,150 (GRCm39) |
I206T |
probably benign |
Het |
| Dennd4b |
A |
G |
3: 90,178,272 (GRCm39) |
D488G |
probably damaging |
Het |
| Dip2b |
T |
C |
15: 100,107,575 (GRCm39) |
L1195P |
probably benign |
Het |
| Dmac2l |
T |
C |
12: 69,790,558 (GRCm39) |
V185A |
probably benign |
Het |
| Dock5 |
T |
A |
14: 68,095,443 (GRCm39) |
H77L |
probably benign |
Het |
| Fbxw13 |
C |
T |
9: 109,021,734 (GRCm39) |
|
probably null |
Het |
| Fmnl3 |
G |
A |
15: 99,223,791 (GRCm39) |
R302W |
probably damaging |
Het |
| Gbf1 |
G |
T |
19: 46,234,660 (GRCm39) |
|
probably null |
Het |
| Gm4846 |
T |
C |
1: 166,314,522 (GRCm39) |
I374V |
probably benign |
Het |
| Gsk3b |
C |
A |
16: 38,014,315 (GRCm39) |
P258T |
probably damaging |
Het |
| Igsf5 |
T |
C |
16: 96,165,249 (GRCm39) |
V8A |
probably benign |
Het |
| Il22 |
T |
A |
10: 118,041,071 (GRCm39) |
L59Q |
probably damaging |
Het |
| Ildr1 |
T |
C |
16: 36,545,896 (GRCm39) |
*517Q |
probably null |
Het |
| Iqca1 |
T |
A |
1: 90,008,670 (GRCm39) |
D450V |
probably damaging |
Het |
| Itga5 |
T |
C |
15: 103,259,856 (GRCm39) |
D647G |
probably benign |
Het |
| Myh7 |
T |
G |
14: 55,226,535 (GRCm39) |
N408T |
probably damaging |
Het |
| Mylk3 |
T |
C |
8: 86,055,266 (GRCm39) |
M564V |
probably damaging |
Het |
| Nsd2 |
T |
A |
5: 34,012,947 (GRCm39) |
M407K |
probably damaging |
Het |
| Odad2 |
T |
C |
18: 7,285,706 (GRCm39) |
E219G |
probably benign |
Het |
| Oprd1 |
C |
T |
4: 131,871,474 (GRCm39) |
V75I |
probably benign |
Het |
| Poli |
G |
A |
18: 70,650,511 (GRCm39) |
H310Y |
probably benign |
Het |
| Pramel19 |
T |
C |
4: 101,798,898 (GRCm39) |
F290L |
probably benign |
Het |
| Ptch1 |
C |
T |
13: 63,672,929 (GRCm39) |
R755H |
probably damaging |
Het |
| Pygl |
A |
T |
12: 70,246,494 (GRCm39) |
M351K |
probably damaging |
Het |
| Serpinb9b |
T |
C |
13: 33,223,831 (GRCm39) |
L341P |
possibly damaging |
Het |
| Slc47a1 |
A |
G |
11: 61,235,168 (GRCm39) |
V555A |
probably benign |
Het |
| Slc8a2 |
C |
A |
7: 15,879,209 (GRCm39) |
T565K |
possibly damaging |
Het |
| Snx14 |
T |
C |
9: 88,285,327 (GRCm39) |
I446V |
possibly damaging |
Het |
| Syde1 |
T |
C |
10: 78,425,951 (GRCm39) |
Y72C |
probably damaging |
Het |
| Trim37 |
C |
T |
11: 87,036,377 (GRCm39) |
R138C |
probably damaging |
Het |
| Tubgcp5 |
T |
A |
7: 55,464,710 (GRCm39) |
S530R |
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,862,253 (GRCm39) |
S2957P |
probably damaging |
Het |
| Wdr41 |
T |
C |
13: 95,133,695 (GRCm39) |
|
probably null |
Het |
| Zyg11b |
T |
C |
4: 108,102,210 (GRCm39) |
K504E |
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 |
|
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 |
|
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'- CAGTTTGTGATTCAAAAGCCTTTT -3'
(R):5'- ACAGGGTGAAACTACTCTACTTTAAAA -3'
Sequencing Primer
(F):5'- GGAAAGGCTCGATTACTG -3'
(R):5'- AACTCCAGTTCCAGAGGATTTGC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation