Incidental Mutation 'IGL01551:Bin1'
ID 93271
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bin1
Ensembl Gene ENSMUSG00000024381
Gene Name bridging integrator 1
Synonyms Amphiphysin 2, Amphl
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01551
Quality Score
Status
Chromosome 18
Chromosomal Location 32510283-32568790 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 32510511 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 18 (V18L)
Ref Sequence ENSEMBL: ENSMUSP00000025239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025239] [ENSMUST00000091967]
AlphaFold O08539
Predicted Effect probably benign
Transcript: ENSMUST00000025239
AA Change: V18L

PolyPhen 2 Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000025239
Gene: ENSMUSG00000024381
AA Change: V18L

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 benign
Transcript: ENSMUST00000091967
AA Change: V18L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000089590
Gene: ENSMUSG00000024381
AA Change: V18L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181729
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik G A 10: 78,924,147 (GRCm39) S103L possibly damaging Het
Acvr2a G A 2: 48,787,071 (GRCm39) A389T probably damaging Het
Adamts9 A G 6: 92,784,001 (GRCm39) S1037P probably damaging Het
Adcyap1 A G 17: 93,511,446 (GRCm39) Y140C probably damaging Het
Ampd3 A G 7: 110,404,183 (GRCm39) N569S probably damaging Het
Ccdc158 A G 5: 92,814,620 (GRCm39) Y69H probably damaging Het
Ccdc70 A G 8: 22,463,611 (GRCm39) R134G possibly damaging Het
Cmtm2a A G 8: 105,019,286 (GRCm39) V101A probably damaging Het
Edar T C 10: 58,441,860 (GRCm39) probably benign Het
Gcc2 T C 10: 58,134,691 (GRCm39) probably benign Het
Gm10961 A G 3: 107,540,281 (GRCm39) probably benign Het
Hsd3b3 T C 3: 98,649,216 (GRCm39) D369G probably benign Het
Ifi202b T A 1: 173,798,928 (GRCm39) K373N probably benign Het
Khk C A 5: 31,082,189 (GRCm39) H67N probably benign Het
Kif7 T A 7: 79,360,314 (GRCm39) probably null Het
Mbd1 C T 18: 74,402,614 (GRCm39) probably benign Het
Mtor A G 4: 148,556,494 (GRCm39) H968R probably damaging Het
Nadk A G 4: 155,673,157 (GRCm39) probably benign Het
Or11g27 A G 14: 50,771,618 (GRCm39) T250A probably benign Het
Or2f1b A G 6: 42,739,046 (GRCm39) D20G probably damaging Het
Or5d40 A T 2: 88,015,629 (GRCm39) H136L probably benign Het
Otol1 T C 3: 69,935,057 (GRCm39) F350L probably damaging Het
Pramel22 T C 4: 143,383,042 (GRCm39) N59S probably damaging Het
Prkcg G A 7: 3,352,342 (GRCm39) probably benign Het
Rps6kc1 A T 1: 190,505,837 (GRCm39) S1042T possibly damaging Het
Rtn1 C T 12: 72,263,709 (GRCm39) V741I possibly damaging Het
Tor2a T A 2: 32,650,595 (GRCm39) probably benign Het
Vmn1r177 T C 7: 23,565,688 (GRCm39) I63V probably benign Het
Vmn2r58 T A 7: 41,514,703 (GRCm39) I89F probably damaging Het
Xirp2 A G 2: 67,343,849 (GRCm39) D2030G probably benign Het
Zfp326 T C 5: 106,036,451 (GRCm39) S121P probably damaging Het
Other mutations in Bin1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R6906:Bin1 UTSW 18 32,554,978 (GRCm39) missense probably benign 0.00
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
Posted On 2013-12-09