Incidental Mutation 'R7885:Bin1'
ID 609037
Institutional Source Beutler Lab
Gene Symbol Bin1
Ensembl Gene ENSMUSG00000024381
Gene Name bridging integrator 1
Synonyms Amphiphysin 2, Amphl
MMRRC Submission 045937-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7885 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 32510283-32568790 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 32552896 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 174 (A174T)
Ref Sequence ENSEMBL: ENSMUSP00000089590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025239] [ENSMUST00000091967]
AlphaFold O08539
Predicted Effect probably damaging
Transcript: ENSMUST00000025239
AA Change: A205T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000025239
Gene: ENSMUSG00000024381
AA Change: A205T

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: A174T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000089590
Gene: ENSMUSG00000024381
AA Change: A174T

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 A G 10: 77,131,542 (GRCm39) V649A possibly damaging Het
Arglu1 C T 8: 8,717,337 (GRCm39) R244H possibly damaging Het
Asic5 A T 3: 81,913,812 (GRCm39) Y204F probably benign Het
Asz1 A G 6: 18,104,876 (GRCm39) F76S probably damaging Het
Bnipl A C 3: 95,157,551 (GRCm39) S23A probably benign Het
Cd19 T C 7: 126,011,303 (GRCm39) T294A probably benign Het
Cdon G A 9: 35,367,818 (GRCm39) V238I probably benign Het
Chd3 A T 11: 69,247,451 (GRCm39) D957E probably benign Het
Crhbp T C 13: 95,568,515 (GRCm39) Q307R probably damaging Het
Cst3 A G 2: 148,714,741 (GRCm39) M112T probably benign Het
Dgkb A G 12: 38,189,425 (GRCm39) E276G probably damaging Het
Exoc4 T A 6: 33,735,001 (GRCm39) N539K probably benign Het
Gm3099 A G 14: 15,345,429 (GRCm39) E85G probably benign Het
Gpatch2 A G 1: 186,957,698 (GRCm39) probably null Het
Hs3st5 T A 10: 36,704,776 (GRCm39) Y26* probably null Het
Hspg2 A T 4: 137,244,148 (GRCm39) D802V probably damaging Het
Ifih1 A G 2: 62,431,813 (GRCm39) V846A possibly damaging Het
Lama4 T A 10: 38,964,840 (GRCm39) S1402T probably benign Het
Lrmda A G 14: 22,648,388 (GRCm39) T73A unknown Het
Lrrc1 A T 9: 77,349,471 (GRCm39) V365E probably damaging Het
Lrrc37a T A 11: 103,393,868 (GRCm39) Q519L probably benign Het
Mlc1 G T 15: 88,862,107 (GRCm39) D36E probably benign Het
Mrc2 A T 11: 105,223,092 (GRCm39) D445V probably damaging Het
Muc16 A G 9: 18,550,760 (GRCm39) S5178P probably benign Het
Nbea A G 3: 55,573,110 (GRCm39) I2491T probably damaging Het
Ncoa1 A G 12: 4,389,044 (GRCm39) I77T probably damaging Het
Npepps G T 11: 97,109,474 (GRCm39) H701N probably damaging Het
Or4n4b T G 14: 50,536,041 (GRCm39) T242P probably damaging Het
Or7g22 A T 9: 19,048,831 (GRCm39) I181F possibly damaging Het
Pclo T TTCTAG 5: 14,764,209 (GRCm39) probably null Het
Pclo GTCTAT GTCTATTCTAT 5: 14,764,204 (GRCm39) probably null Het
Pclo TCTAT TCTATACTAT 5: 14,764,205 (GRCm39) probably null Het
Pi4kb T C 3: 94,906,387 (GRCm39) Y645H probably damaging Het
Pik3r5 C T 11: 68,383,528 (GRCm39) A449V possibly damaging Het
Plat A G 8: 23,261,736 (GRCm39) T45A probably benign Het
Platr25 T C 13: 62,848,676 (GRCm39) K62R possibly damaging Het
Ppp5c A G 7: 16,740,111 (GRCm39) V410A possibly damaging Het
Prdm2 C T 4: 142,861,140 (GRCm39) A717T probably benign Het
Pstpip2 C A 18: 77,882,422 (GRCm39) T2K probably benign Het
Ptpn12 A C 5: 21,203,523 (GRCm39) S418R possibly damaging Het
Rint1 A G 5: 24,010,642 (GRCm39) S255G probably benign Het
Rmc1 T C 18: 12,322,371 (GRCm39) L608P probably damaging Het
Sltm C G 9: 70,493,955 (GRCm39) P802R possibly damaging Het
Stab2 T C 10: 86,714,776 (GRCm39) H1581R probably benign Het
Stau2 T C 1: 16,530,577 (GRCm39) Y114C unknown Het
Ticam1 T C 17: 56,578,067 (GRCm39) T343A probably benign Het
Tmem131l T C 3: 83,817,724 (GRCm39) K1259E possibly damaging Het
Vmn2r103 T A 17: 20,013,385 (GRCm39) F169I probably benign Het
Vps33a T C 5: 123,673,312 (GRCm39) K425E possibly damaging Het
Vwa8 T C 14: 79,258,089 (GRCm39) M746T probably benign Het
Zc3hav1 A G 6: 38,313,598 (GRCm39) I149T possibly damaging Het
Zfp708 A T 13: 67,222,193 (GRCm39) D62E probably benign 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
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
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'- AATGGCAGCTCAACCTTCC -3'
(R):5'- ATGCTGCATCCTCAGAGACAC -3'

Sequencing Primer
(F):5'- CCTTAGGGCTCCAATGGGAAGTTC -3'
(R):5'- CACAGAGCCCTGAAGTCAGTAG -3'
Posted On 2019-12-20