Incidental Mutation 'R8342:Bin1'
ID 644984
Institutional Source Beutler Lab
Gene Symbol Bin1
Ensembl Gene ENSMUSG00000024381
Gene Name bridging integrator 1
Synonyms Amphiphysin 2, Amphl
MMRRC Submission 067731-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8342 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 32510283-32568790 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32546166 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 112 (M112V)
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: M112V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025239
Gene: ENSMUSG00000024381
AA Change: M112V

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: M112V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000089590
Gene: ENSMUSG00000024381
AA Change: M112V

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: 99.6%
  • 20x: 98.6%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 A G 6: 86,963,321 (GRCm39) D917G unknown Het
Adad1 T C 3: 37,134,050 (GRCm39) S322P probably damaging Het
Agbl4 C T 4: 110,976,224 (GRCm39) L194F probably damaging Het
Ahr C T 12: 35,558,271 (GRCm39) G250R probably damaging Het
AI987944 A T 7: 41,024,310 (GRCm39) I226N probably benign Het
Ankar A G 1: 72,691,619 (GRCm39) V1114A probably damaging Het
Ankrd49 C A 9: 14,692,823 (GRCm39) A114S probably damaging Het
Arl6 C T 16: 59,442,802 (GRCm39) G140D unknown Het
Arrdc3 A G 13: 81,031,790 (GRCm39) S8G probably benign Het
Ate1 A T 7: 130,105,495 (GRCm39) V298E probably benign Het
Atp6v1b2 A G 8: 69,554,035 (GRCm39) I71V probably benign Het
Camk2b C T 11: 5,940,383 (GRCm39) A152T probably benign Het
Cars2 A C 8: 11,579,706 (GRCm39) F251V probably damaging Het
Cdkl1 A T 12: 69,800,952 (GRCm39) F229I probably damaging Het
Ceacam5 A T 7: 17,486,171 (GRCm39) Y556F possibly damaging Het
Chst15 T C 7: 131,849,615 (GRCm39) N442S probably benign Het
Ckap5 T A 2: 91,436,707 (GRCm39) D1602E possibly damaging Het
Col9a3 A T 2: 180,245,183 (GRCm39) I131F unknown Het
Cyp4f15 A T 17: 32,909,733 (GRCm39) D110V possibly damaging Het
Dlec1 A G 9: 118,968,457 (GRCm39) I1258V probably benign Het
Dpyd A G 3: 119,108,452 (GRCm39) T832A possibly damaging Het
Eno1 A G 4: 150,329,693 (GRCm39) Y189C probably damaging Het
Gnat3 A G 5: 18,208,838 (GRCm39) T181A Het
Kif1b T C 4: 149,306,805 (GRCm39) M852V probably damaging Het
Klk1b26 A T 7: 43,665,508 (GRCm39) I139F probably damaging Het
Loxhd1 G A 18: 77,493,681 (GRCm39) V1547M possibly damaging Het
Lrp4 A G 2: 91,318,790 (GRCm39) T876A probably damaging Het
Malrd1 G T 2: 15,638,035 (GRCm39) W451L unknown Het
Marchf6 A T 15: 31,494,262 (GRCm39) N261K possibly damaging Het
Mcpt2 T C 14: 56,280,250 (GRCm39) C50R probably damaging Het
Muc16 A G 9: 18,569,981 (GRCm39) V846A unknown Het
Muc5b A T 7: 141,414,602 (GRCm39) D2516V unknown Het
Myh15 T C 16: 48,913,120 (GRCm39) L359P probably benign Het
Nemp1 G A 10: 127,528,898 (GRCm39) V201I probably benign Het
Nr2e1 A T 10: 42,444,425 (GRCm39) L228Q probably damaging Het
Nrg1 C A 8: 32,312,334 (GRCm39) V388L probably benign Het
Nrg3 T A 14: 38,734,053 (GRCm39) T278S probably damaging Het
Numb T C 12: 83,854,990 (GRCm39) E112G probably benign Het
Or1l4b T C 2: 37,036,778 (GRCm39) S185P probably damaging Het
Or8g2b A C 9: 39,751,612 (GRCm39) N294T probably damaging Het
Pdlim2 C A 14: 70,403,563 (GRCm39) C283F probably damaging Het
Potegl T A 2: 23,147,017 (GRCm39) probably null Het
Ppm1a G A 12: 72,830,909 (GRCm39) G145R probably damaging Het
Pramel14 T A 4: 143,720,809 (GRCm39) D44V probably benign Het
Pramel18 A T 4: 101,767,581 (GRCm39) M277L probably benign Het
Prune2 C A 19: 17,103,027 (GRCm39) Q2729K probably benign Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Scn9a G T 2: 66,366,626 (GRCm39) T719K probably benign Het
Slc12a7 T C 13: 73,933,281 (GRCm39) V113A probably benign Het
Slc23a1 C T 18: 35,755,588 (GRCm39) G436E probably damaging Het
Slc37a2 A T 9: 37,149,510 (GRCm39) probably null Het
Steap1 G A 5: 5,790,816 (GRCm39) S44L probably benign Het
Sucnr1 C T 3: 59,994,155 (GRCm39) R228C probably damaging Het
Sult3a1 G A 10: 33,742,517 (GRCm39) G48D probably damaging Het
Syn3 A T 10: 86,302,891 (GRCm39) V88D probably damaging Het
Syne1 T C 10: 5,058,622 (GRCm39) D7297G probably benign Het
Tmco5 T C 2: 116,710,734 (GRCm39) I18T probably damaging Het
Trpc1 A G 9: 95,608,601 (GRCm39) L230P probably damaging Het
Ttn T C 2: 76,719,785 (GRCm39) N7108S unknown Het
Ubr5 A G 15: 38,025,081 (GRCm39) V559A Het
Ugt1a7c T C 1: 88,022,973 (GRCm39) V44A possibly damaging Het
Vmn2r60 A T 7: 41,790,494 (GRCm39) S494C 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
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
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'- TTGTCACACTGACCTTTGAGAAAG -3'
(R):5'- TGAGCCAGCCCTACATTGTAG -3'

Sequencing Primer
(F):5'- TGAGAAAGTCATACAGTCTCCCTTGC -3'
(R):5'- ACATTGTAGGCTTCTCCCAGAC -3'
Posted On 2020-09-02