Incidental Mutation 'IGL01669:Bnipl'
| ID |
103400 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bnipl
|
| Ensembl Gene |
ENSMUSG00000028115 |
| Gene Name |
BCL2/adenovirus E1B 19kD interacting protein like |
| Synonyms |
BNIPL-1, BNIPL2, BNIPL1, BNIP-S, BNIPL, BNIPL-2, PP753, 1700128A13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
IGL01669
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
95148587-95158504 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 95150045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 316
(R316S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090815]
[ENSMUST00000098871]
[ENSMUST00000107195]
[ENSMUST00000107197]
[ENSMUST00000125515]
[ENSMUST00000137250]
|
| AlphaFold |
Q99JU7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090815
|
| SMART Domains |
Protein: ENSMUSP00000088324
Gene: ENSMUSG00000068860
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:PMSI1
|
23 |
345 |
3.1e-144 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098871
AA Change: R268S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096468
Gene: ENSMUSG00000028115
AA Change: R268S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
31 |
N/A |
INTRINSIC |
|
Pfam:BNIP2
|
48 |
178 |
4.5e-38 |
PFAM |
|
Pfam:CRAL_TRIO_2
|
162 |
273 |
7.7e-16 |
PFAM |
|
Pfam:CRAL_TRIO
|
196 |
263 |
3.2e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107195
AA Change: R344S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102813
Gene: ENSMUSG00000028115
AA Change: R344S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
50 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
104 |
117 |
N/A |
INTRINSIC |
|
SEC14
|
193 |
348 |
7.89e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107197
|
| SMART Domains |
Protein: ENSMUSP00000102815
Gene: ENSMUSG00000068860
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:PMSI1
|
23 |
130 |
1.8e-32 |
PFAM |
|
Pfam:PMSI1
|
121 |
184 |
1.2e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125515
|
| SMART Domains |
Protein: ENSMUSP00000120545
Gene: ENSMUSG00000028115
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
31 |
N/A |
INTRINSIC |
|
Pfam:BNIP2
|
48 |
178 |
3.7e-38 |
PFAM |
|
Pfam:CRAL_TRIO_2
|
168 |
259 |
7.5e-15 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137250
AA Change: R316S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115197
Gene: ENSMUSG00000028115
AA Change: R316S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
22 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
89 |
N/A |
INTRINSIC |
|
SEC14
|
165 |
320 |
7.89e-13 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176070
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with several other proteins, such as BCL2, ARHGAP1, MIF and GFER. It may function as a bridge molecule between BCL2 and ARHGAP1/CDC42 in promoting cell death. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl4 |
G |
T |
X: 141,126,184 (GRCm39) |
D313E |
probably damaging |
Het |
| Aifm3 |
A |
C |
16: 17,321,405 (GRCm39) |
K453T |
probably benign |
Het |
| Anks1b |
T |
C |
10: 90,733,100 (GRCm39) |
|
probably benign |
Het |
| Arfgef1 |
T |
C |
1: 10,229,840 (GRCm39) |
D1287G |
probably damaging |
Het |
| Bcl3 |
G |
A |
7: 19,546,416 (GRCm39) |
Q140* |
probably null |
Het |
| Cacna1i |
T |
A |
15: 80,275,958 (GRCm39) |
H1916Q |
probably benign |
Het |
| Ccdc171 |
C |
T |
4: 83,599,432 (GRCm39) |
A749V |
probably damaging |
Het |
| Ceacam18 |
G |
A |
7: 43,294,939 (GRCm39) |
G333E |
probably damaging |
Het |
| Cul7 |
G |
T |
17: 46,969,641 (GRCm39) |
M969I |
possibly damaging |
Het |
| Cylc2 |
A |
G |
4: 51,228,360 (GRCm39) |
T144A |
probably benign |
Het |
| Cyp2c50 |
A |
T |
19: 40,086,495 (GRCm39) |
H294L |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,085,306 (GRCm39) |
K1081R |
probably damaging |
Het |
| D930020B18Rik |
A |
G |
10: 121,519,866 (GRCm39) |
K456R |
probably benign |
Het |
| Drd2 |
A |
G |
9: 49,313,389 (GRCm39) |
N186S |
possibly damaging |
Het |
| Fanci |
A |
T |
7: 79,098,925 (GRCm39) |
E1306D |
probably benign |
Het |
| Fbxl21 |
T |
A |
13: 56,675,522 (GRCm39) |
|
probably benign |
Het |
| Galk2 |
T |
A |
2: 125,729,807 (GRCm39) |
Y63N |
probably damaging |
Het |
| Git2 |
T |
C |
5: 114,905,166 (GRCm39) |
D97G |
probably damaging |
Het |
| Gm8258 |
T |
A |
5: 104,923,940 (GRCm39) |
|
noncoding transcript |
Het |
| Irf4 |
G |
T |
13: 30,941,454 (GRCm39) |
S270I |
probably damaging |
Het |
| Itgb3 |
C |
A |
11: 104,524,216 (GRCm39) |
|
probably benign |
Het |
| Itpr2 |
A |
C |
6: 146,081,727 (GRCm39) |
I2299R |
probably damaging |
Het |
| Lig4 |
T |
C |
8: 10,023,673 (GRCm39) |
I36V |
probably benign |
Het |
| Nedd9 |
A |
G |
13: 41,492,111 (GRCm39) |
V133A |
probably damaging |
Het |
| Nup133 |
A |
C |
8: 124,665,869 (GRCm39) |
Y185* |
probably null |
Het |
| Or51b6b |
A |
T |
7: 103,310,194 (GRCm39) |
F88I |
probably benign |
Het |
| Or5d14 |
T |
C |
2: 87,880,128 (GRCm39) |
Y280C |
possibly damaging |
Het |
| Or6c3 |
A |
G |
10: 129,309,080 (GRCm39) |
H173R |
probably damaging |
Het |
| Pgbd5 |
T |
A |
8: 125,101,138 (GRCm39) |
T373S |
possibly damaging |
Het |
| Ppp1r8 |
T |
C |
4: 132,555,480 (GRCm39) |
E246G |
probably benign |
Het |
| Rmnd5b |
C |
T |
11: 51,518,727 (GRCm39) |
V89M |
probably damaging |
Het |
| Rnf123 |
T |
C |
9: 107,935,555 (GRCm39) |
I969V |
probably damaging |
Het |
| Ror2 |
A |
G |
13: 53,265,124 (GRCm39) |
I656T |
probably damaging |
Het |
| Sgsm1 |
T |
C |
5: 113,411,356 (GRCm39) |
E503G |
probably benign |
Het |
| Smgc |
T |
A |
15: 91,744,882 (GRCm39) |
S381T |
possibly damaging |
Het |
| Tlr4 |
T |
G |
4: 66,759,504 (GRCm39) |
F766V |
possibly damaging |
Het |
| Tnc |
T |
C |
4: 63,918,938 (GRCm39) |
T1162A |
probably damaging |
Het |
| Usp39 |
A |
G |
6: 72,315,476 (GRCm39) |
V156A |
probably damaging |
Het |
| Zdhhc5 |
A |
G |
2: 84,521,538 (GRCm39) |
Y352H |
probably damaging |
Het |
| Zfp646 |
A |
G |
7: 127,478,137 (GRCm39) |
T105A |
probably benign |
Het |
|
| Other mutations in Bnipl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02089:Bnipl
|
APN |
3 |
95,157,577 (GRCm39) |
splice site |
probably benign |
|
|
IGL02273:Bnipl
|
APN |
3 |
95,153,086 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL03250:Bnipl
|
APN |
3 |
95,151,450 (GRCm39) |
splice site |
probably benign |
|
|
R0524:Bnipl
|
UTSW |
3 |
95,157,140 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1181:Bnipl
|
UTSW |
3 |
95,152,960 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1926:Bnipl
|
UTSW |
3 |
95,150,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2072:Bnipl
|
UTSW |
3 |
95,151,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2126:Bnipl
|
UTSW |
3 |
95,152,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2196:Bnipl
|
UTSW |
3 |
95,157,181 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2898:Bnipl
|
UTSW |
3 |
95,150,360 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7781:Bnipl
|
UTSW |
3 |
95,151,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7885:Bnipl
|
UTSW |
3 |
95,157,551 (GRCm39) |
missense |
probably benign |
|
|
R9088:Bnipl
|
UTSW |
3 |
95,158,295 (GRCm39) |
nonsense |
probably null |
|
|
R9512:Bnipl
|
UTSW |
3 |
95,150,369 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9789:Bnipl
|
UTSW |
3 |
95,153,140 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
| Posted On |
2014-01-21 |
Incidental Mutation