Incidental Mutation 'R1688:Bin1'
ID 189535
Institutional Source Beutler Lab
Gene Symbol Bin1
Ensembl Gene ENSMUSG00000024381
Gene Name bridging integrator 1
Synonyms Amphiphysin 2, Amphl
MMRRC Submission 039721-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1688 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 32510283-32568790 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 32552988 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000089590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025239] [ENSMUST00000091967]
AlphaFold O08539
Predicted Effect probably benign
Transcript: ENSMUST00000025239
SMART Domains Protein: ENSMUSP00000025239
Gene: ENSMUSG00000024381

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
SMART Domains Protein: ENSMUSP00000089590
Gene: ENSMUSG00000024381

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 100% (71/71)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik T C 13: 61,002,695 (GRCm39) T20A probably benign Het
Acaca T G 11: 84,129,722 (GRCm39) V359G probably damaging Het
Adgb G A 10: 10,226,061 (GRCm39) R1359* probably null Het
Aggf1 T C 13: 95,501,275 (GRCm39) E369G probably damaging Het
Alkbh8 T A 9: 3,382,765 (GRCm39) D418E probably damaging Het
Alox8 T C 11: 69,080,732 (GRCm39) D203G probably benign Het
Ank A G 15: 27,557,320 (GRCm39) D168G probably damaging Het
Ap5m1 A G 14: 49,318,291 (GRCm39) probably null Het
Arhgap45 A G 10: 79,864,929 (GRCm39) Y964C probably damaging Het
Arhgef2 A G 3: 88,547,607 (GRCm39) D571G probably benign Het
Bdh2 A T 3: 135,007,399 (GRCm39) Y223F possibly damaging Het
Cacna1g T A 11: 94,316,779 (GRCm39) M1514L possibly damaging Het
Cd109 T A 9: 78,612,373 (GRCm39) F1253L probably benign Het
Cfap57 T A 4: 118,426,843 (GRCm39) E1065V probably null Het
Chmp2b T C 16: 65,347,922 (GRCm39) N14S probably benign Het
Cplane1 T C 15: 8,258,093 (GRCm39) V2113A probably benign Het
Crybg1 A T 10: 43,849,794 (GRCm39) F1660L probably damaging Het
Cyp2c37 T G 19: 39,982,887 (GRCm39) probably null Het
Daam1 A T 12: 71,993,820 (GRCm39) I408F unknown Het
Dsc3 T A 18: 20,099,284 (GRCm39) D744V probably damaging Het
Eprs1 T C 1: 185,117,093 (GRCm39) F379L probably damaging Het
Ewsr1 G T 11: 5,022,870 (GRCm39) D417E unknown Het
Eya4 A T 10: 22,999,759 (GRCm39) N424K probably damaging Het
Gm9312 A C 12: 24,301,920 (GRCm39) noncoding transcript Het
Havcr2 T C 11: 46,370,191 (GRCm39) I206T probably damaging Het
Igfbp2 T C 1: 72,864,125 (GRCm39) probably null Het
Ikzf2 T C 1: 69,581,439 (GRCm39) K196R possibly damaging Het
Il12rb1 G A 8: 71,272,046 (GRCm39) G587R probably damaging Het
Immt A T 6: 71,833,995 (GRCm39) H208L probably damaging Het
Kcnq2 C T 2: 180,728,826 (GRCm39) V540I probably damaging Het
Klk1b8 T A 7: 43,595,229 (GRCm39) probably benign Het
Mc2r T A 18: 68,541,090 (GRCm39) I68F possibly damaging Het
Neil3 T C 8: 54,054,069 (GRCm39) E320G probably damaging Het
Nell2 T C 15: 95,329,494 (GRCm39) T276A probably damaging Het
Nphp3 T C 9: 103,880,323 (GRCm39) L115P probably damaging Het
Nras T C 3: 102,967,689 (GRCm39) L95P probably benign Het
Ogt G A X: 100,699,296 (GRCm39) V190I probably damaging Het
Or11h6 A T 14: 50,880,705 (GRCm39) K322N probably benign Het
Or5t17 A G 2: 86,832,730 (GRCm39) Y139C probably benign Het
P2ry6 T A 7: 100,587,591 (GRCm39) H256L probably damaging Het
Pcbp4 T C 9: 106,338,533 (GRCm39) S153P probably damaging Het
Pclo T C 5: 14,838,507 (GRCm39) probably null Het
Per2 A G 1: 91,351,551 (GRCm39) L985P probably damaging Het
Pgap6 C T 17: 26,337,882 (GRCm39) A422V possibly damaging Het
Phip T C 9: 82,753,710 (GRCm39) N1678S probably benign Het
Pkd1l3 A G 8: 110,350,450 (GRCm39) S432G probably benign Het
Plin4 T A 17: 56,416,363 (GRCm39) D47V possibly damaging Het
Ppp2cb A G 8: 34,105,480 (GRCm39) I163M probably benign Het
Ptpdc1 T C 13: 48,739,700 (GRCm39) E577G probably benign Het
Ptprd G T 4: 75,900,921 (GRCm39) P1063T probably damaging Het
Ptpru T C 4: 131,514,656 (GRCm39) D866G probably benign Het
Rdx T C 9: 51,972,211 (GRCm39) probably benign Het
Rgsl1 C T 1: 153,680,422 (GRCm39) R760H probably damaging Het
Rhno1 A G 6: 128,334,897 (GRCm39) V142A probably benign Het
Sema5a C T 15: 32,669,570 (GRCm39) T698I probably benign Het
Serpina3a A T 12: 104,084,902 (GRCm39) D99V probably benign Het
Slc22a3 A T 17: 12,652,694 (GRCm39) M350K probably damaging Het
Spata31d1b T A 13: 59,863,274 (GRCm39) S141T possibly damaging Het
Tada2a T C 11: 83,975,585 (GRCm39) probably null Het
Tspan10 A G 11: 120,333,608 (GRCm39) M2V probably damaging Het
Ttll11 T C 2: 35,685,391 (GRCm39) T566A probably damaging Het
Vwa8 A G 14: 79,438,543 (GRCm39) Q1872R possibly damaging Het
Zfp605 T A 5: 110,276,907 (GRCm39) I675N possibly damaging Het
Zkscan8 A T 13: 21,704,324 (GRCm39) N538K possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- TTGTAATGGCAGCTCAACCTTCCC -3'
(R):5'- AAGTTTTCCTCCAGACCCGCGATG -3'

Sequencing Primer
(F):5'- GGCTCCAATGGGAAGTTCTG -3'
(R):5'- GCGATGCTCTGGAACGTG -3'
Posted On 2014-05-14