Incidental Mutation 'R6906:Bin1'
| ID |
538803 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bin1
|
| Ensembl Gene |
ENSMUSG00000024381 |
| Gene Name |
bridging integrator 1 |
| Synonyms |
Amphiphysin 2, Amphl |
| MMRRC Submission |
044998-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6906 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
32510283-32568790 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 32554978 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 243
(H243Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089590
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025239]
[ENSMUST00000091967]
|
| AlphaFold |
O08539 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025239
AA Change: H274Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000025239
Gene: ENSMUSG00000024381
AA Change: H274Q
| Domain | Start | End | E-Value | Type |
|---|
|
BAR
|
17 |
269 |
3.04e-81 |
SMART |
|
low complexity region
|
296 |
305 |
N/A |
INTRINSIC |
|
PDB:1MV3|A
|
306 |
378 |
3e-31 |
PDB |
|
Blast:BAR
|
395 |
506 |
4e-48 |
BLAST |
|
SH3
|
518 |
588 |
5.4e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091967
AA Change: H243Q
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000089590
Gene: ENSMUSG00000024381
AA Change: H243Q
| Domain | Start | End | E-Value | Type |
|---|
|
BAR
|
17 |
238 |
3.92e-84 |
SMART |
|
low complexity region
|
265 |
274 |
N/A |
INTRINSIC |
|
low complexity region
|
309 |
315 |
N/A |
INTRINSIC |
|
Blast:BAR
|
319 |
395 |
2e-8 |
BLAST |
|
SH3
|
407 |
477 |
5.4e-13 |
SMART |
|
| Meta Mutation Damage Score |
0.1591 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.3%
|
| Validation Efficiency |
98% (45/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with dynamin, synaptojanin, endophilin, and clathrin. Isoforms that are expressed in muscle and ubiquitously expressed isoforms localize to the cytoplasm and nucleus and activate a caspase-independent apoptotic process. Studies in mouse suggest that this gene plays an important role in cardiac muscle development. Alternate splicing of the gene results in several transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. [provided by RefSeq, Mar 2016]
PHENOTYPE: Homozygous mutation of this gene results in thickened ventricular walls, densely packed myocardiocytes, and disorganization of myofibrils. Mutant animals die shortly after birth. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(3) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(1) |
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf2 |
A |
G |
5: 24,773,840 (GRCm39) |
F350L |
possibly damaging |
Het |
| Ahnak2 |
T |
A |
12: 112,748,933 (GRCm39) |
T305S |
probably benign |
Het |
| Anp32a |
A |
G |
9: 62,284,851 (GRCm39) |
|
probably benign |
Het |
| Aplf |
A |
G |
6: 87,607,068 (GRCm39) |
S449P |
possibly damaging |
Het |
| Arl6ip4 |
A |
G |
5: 124,254,614 (GRCm39) |
R36G |
possibly damaging |
Het |
| Ascc1 |
G |
A |
10: 59,840,674 (GRCm39) |
D12N |
probably benign |
Het |
| Ccdc168 |
C |
T |
1: 44,095,173 (GRCm39) |
S1975N |
probably benign |
Het |
| Ccdc7a |
C |
A |
8: 129,662,162 (GRCm39) |
V547L |
unknown |
Het |
| Cntnap5c |
T |
A |
17: 58,702,302 (GRCm39) |
N1207K |
probably benign |
Het |
| Coro7 |
C |
A |
16: 4,451,168 (GRCm39) |
R507L |
probably benign |
Het |
| Crtap |
T |
A |
9: 114,210,700 (GRCm39) |
K291N |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,710,569 (GRCm39) |
T1569A |
probably benign |
Het |
| Dmrta1 |
A |
G |
4: 89,580,203 (GRCm39) |
T388A |
probably benign |
Het |
| Ehd3 |
T |
C |
17: 74,137,333 (GRCm39) |
F501L |
probably damaging |
Het |
| Fbn2 |
A |
C |
18: 58,204,891 (GRCm39) |
L1184R |
possibly damaging |
Het |
| Fhip1b |
G |
A |
7: 105,037,476 (GRCm39) |
T369I |
probably damaging |
Het |
| Hsf1 |
T |
C |
15: 76,361,919 (GRCm39) |
|
probably null |
Het |
| Hycc1 |
A |
T |
5: 24,204,956 (GRCm39) |
W12R |
probably damaging |
Het |
| Kansl1l |
T |
C |
1: 66,762,437 (GRCm39) |
H810R |
possibly damaging |
Het |
| Lrp5 |
A |
T |
19: 3,672,638 (GRCm39) |
I557N |
probably damaging |
Het |
| Lypd1 |
T |
C |
1: 125,838,196 (GRCm39) |
E41G |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,724,853 (GRCm39) |
Y443C |
probably damaging |
Het |
| Muc2 |
A |
G |
7: 141,284,976 (GRCm39) |
D871G |
probably damaging |
Het |
| Nup85 |
T |
A |
11: 115,471,769 (GRCm39) |
Y198N |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,923,744 (GRCm39) |
M6578L |
possibly damaging |
Het |
| Or8h7 |
T |
C |
2: 86,721,091 (GRCm39) |
T143A |
probably benign |
Het |
| Osbpl5 |
G |
C |
7: 143,248,065 (GRCm39) |
Q667E |
probably damaging |
Het |
| Ovgp1 |
T |
A |
3: 105,894,189 (GRCm39) |
|
probably benign |
Het |
| Prl8a2 |
T |
A |
13: 27,532,900 (GRCm39) |
N37K |
probably benign |
Het |
| Ptprf |
A |
T |
4: 118,126,474 (GRCm39) |
I93N |
possibly damaging |
Het |
| Rnf112 |
T |
C |
11: 61,341,215 (GRCm39) |
S457G |
probably null |
Het |
| Sema3e |
A |
G |
5: 14,290,601 (GRCm39) |
D562G |
probably damaging |
Het |
| Sesn3 |
A |
G |
9: 14,236,937 (GRCm39) |
M472V |
probably damaging |
Het |
| Sfpq |
GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC |
GCCGCCGCAGCAGCC |
4: 126,915,419 (GRCm39) |
|
probably benign |
Het |
| Shc3 |
T |
C |
13: 51,620,595 (GRCm39) |
T144A |
probably damaging |
Het |
| Sis |
A |
G |
3: 72,826,818 (GRCm39) |
L1287P |
probably damaging |
Het |
| Srrm2 |
C |
T |
17: 24,039,337 (GRCm39) |
P2090S |
probably damaging |
Het |
| Syne2 |
T |
G |
12: 76,042,760 (GRCm39) |
D3910E |
possibly damaging |
Het |
| Tcaim |
C |
T |
9: 122,663,839 (GRCm39) |
T443I |
probably benign |
Het |
| Tex19.1 |
T |
C |
11: 121,037,948 (GRCm39) |
V102A |
probably benign |
Het |
| Tpd52l1 |
T |
G |
10: 31,208,950 (GRCm39) |
T168P |
possibly damaging |
Het |
| Trdn |
G |
A |
10: 33,109,944 (GRCm39) |
C294Y |
probably benign |
Het |
| Trmt1l |
T |
C |
1: 151,327,926 (GRCm39) |
Y479H |
probably benign |
Het |
| Vmn1r171 |
G |
A |
7: 23,331,804 (GRCm39) |
V10I |
probably benign |
Het |
| Zbtb41 |
T |
A |
1: 139,351,128 (GRCm39) |
D80E |
possibly damaging |
Het |
| Zcchc4 |
A |
G |
5: 52,980,976 (GRCm39) |
K473E |
possibly damaging |
Het |
|
| Other mutations in Bin1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00230:Bin1
|
APN |
18 |
32,553,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00972:Bin1
|
APN |
18 |
32,557,887 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01551:Bin1
|
APN |
18 |
32,510,511 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL01609:Bin1
|
APN |
18 |
32,552,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1370:Bin1
|
UTSW |
18 |
32,562,756 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1496:Bin1
|
UTSW |
18 |
32,545,757 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1688:Bin1
|
UTSW |
18 |
32,558,025 (GRCm39) |
splice site |
probably benign |
|
|
R1688:Bin1
|
UTSW |
18 |
32,552,988 (GRCm39) |
splice site |
probably benign |
|
|
R2483:Bin1
|
UTSW |
18 |
32,547,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3941:Bin1
|
UTSW |
18 |
32,539,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5026:Bin1
|
UTSW |
18 |
32,552,983 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5768:Bin1
|
UTSW |
18 |
32,559,264 (GRCm39) |
splice site |
probably null |
|
|
R6770:Bin1
|
UTSW |
18 |
32,539,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7239:Bin1
|
UTSW |
18 |
32,539,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7593:Bin1
|
UTSW |
18 |
32,552,932 (GRCm39) |
nonsense |
probably null |
|
|
R7885:Bin1
|
UTSW |
18 |
32,552,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8050:Bin1
|
UTSW |
18 |
32,539,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8089:Bin1
|
UTSW |
18 |
32,562,236 (GRCm39) |
splice site |
probably null |
|
|
R8342:Bin1
|
UTSW |
18 |
32,546,166 (GRCm39) |
missense |
probably benign |
|
|
R9169:Bin1
|
UTSW |
18 |
32,562,251 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R9378:Bin1
|
UTSW |
18 |
32,552,921 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9531:Bin1
|
UTSW |
18 |
32,510,539 (GRCm39) |
missense |
probably benign |
0.11 |
|
X0011:Bin1
|
UTSW |
18 |
32,559,332 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCATCTTCCGTTGGTGGAGTC -3'
(R):5'- AAGGCTCTGGGATCTACAGG -3'
Sequencing Primer
(F):5'- AGTCAGGGGAAGCTGCTC -3'
(R):5'- ATAGGAGCTATTTCCCTGATGCCAG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation