Incidental Mutation 'IGL00230:Bin1'
ID2067
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bin1
Ensembl Gene ENSMUSG00000024381
Gene Namebridging integrator 1
SynonymsAmphl, Amphiphysin 2
Accession Numbers

Genbank: NM_009668, NM_001083334; MGI: 108092

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00230
Quality Score
Status
Chromosome18
Chromosomal Location32377217-32435736 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 32420107 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 215 (A215V)
Ref Sequence ENSEMBL: ENSMUSP00000089590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025239] [ENSMUST00000091967]
Predicted Effect probably damaging
Transcript: ENSMUST00000025239
AA Change: A246V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025239
Gene: ENSMUSG00000024381
AA Change: A246V

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000091967
AA Change: A215V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000089590
Gene: ENSMUSG00000024381
AA Change: A215V

DomainStartEndE-ValueType
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
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 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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cyp2j6 C T 4: 96,536,046 R158H possibly damaging Het
Dnaaf2 T C 12: 69,196,766 D507G probably benign Het
Fam13b T C 18: 34,487,096 E245G possibly damaging Het
Gal3st1 A T 11: 3,999,070 probably benign Het
Galnt5 A T 2: 57,998,973 Q195L probably benign Het
Gfm2 A G 13: 97,155,442 T229A probably benign Het
Gigyf1 A G 5: 137,522,745 probably benign Het
Gm4353 G T 7: 116,083,554 T264K probably damaging Het
Gsk3b A T 16: 38,228,707 I389F probably benign Het
Hist1h2bm G T 13: 21,722,375 R93L possibly damaging Het
Htt A G 5: 34,799,408 T194A probably benign Het
Ighg3 T C 12: 113,359,837 Y273C unknown Het
Kdm5b T A 1: 134,620,955 V1066D probably damaging Het
Kif1a G T 1: 93,054,934 A707E probably damaging Het
Maats1 A G 16: 38,336,342 probably null Het
Mars A G 10: 127,298,006 M674T probably benign Het
Mas1 T C 17: 12,841,990 D182G probably benign Het
Metap1d T A 2: 71,512,162 D178E probably damaging Het
Nhsl1 T A 10: 18,527,609 D1329E probably benign Het
Ninl T C 2: 150,966,241 E289G probably damaging Het
Pmel G T 10: 128,716,089 G264V possibly damaging Het
Ruvbl1 T C 6: 88,484,403 probably benign Het
Scn8a T A 15: 100,955,532 probably benign Het
Sept9 T C 11: 117,354,804 probably benign Het
Sgpp1 G T 12: 75,716,194 Y404* probably null Het
Sgsm1 T C 5: 113,245,064 I788V probably benign Het
Slc13a4 A T 6: 35,289,824 M112K probably benign Het
Slc22a29 T C 19: 8,217,813 M153V probably benign Het
Slc9c1 T G 16: 45,573,389 V565G possibly damaging Het
Sox4 C A 13: 28,952,973 G17W probably damaging Het
Tec C T 5: 72,768,768 A314T probably damaging Het
Tg A G 15: 66,827,290 I803V probably benign Het
Trav9-1 A T 14: 53,488,393 I55F probably benign Het
Ttll12 C A 15: 83,578,656 E536D probably benign Het
Ubqln1 C A 13: 58,177,992 E152* probably null Het
Wwtr1 G A 3: 57,463,491 T338I probably benign Het
Zdhhc16 T C 19: 41,939,660 F206S probably benign Het
Other mutations in Bin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00972:Bin1 APN 18 32424834 missense probably benign 0.01
IGL01551:Bin1 APN 18 32377458 missense probably benign 0.44
IGL01609:Bin1 APN 18 32419925 missense probably damaging 1.00
R1370:Bin1 UTSW 18 32429703 missense probably benign 0.05
R1496:Bin1 UTSW 18 32412704 missense probably damaging 0.99
R1688:Bin1 UTSW 18 32419935 splice site probably benign
R1688:Bin1 UTSW 18 32424972 splice site probably benign
R2483:Bin1 UTSW 18 32414227 missense probably damaging 1.00
R3941:Bin1 UTSW 18 32406158 missense probably damaging 1.00
R5026:Bin1 UTSW 18 32419930 critical splice donor site probably null
R5768:Bin1 UTSW 18 32426211 splice site probably null
R6770:Bin1 UTSW 18 32406149 missense probably damaging 1.00
R6906:Bin1 UTSW 18 32421925 missense probably benign 0.00
R7239:Bin1 UTSW 18 32406171 missense probably damaging 1.00
R7593:Bin1 UTSW 18 32419879 nonsense probably null
R7885:Bin1 UTSW 18 32419843 missense probably damaging 1.00
R8050:Bin1 UTSW 18 32406145 missense probably damaging 1.00
R8089:Bin1 UTSW 18 32429183 splice site probably null
R8342:Bin1 UTSW 18 32413113 missense probably benign
X0011:Bin1 UTSW 18 32426279 missense probably benign 0.00
Posted On2011-12-09