Incidental Mutation 'R8050:Bin1'
ID 619031
Institutional Source Beutler Lab
Gene Symbol Bin1
Ensembl Gene ENSMUSG00000024381
Gene Name bridging integrator 1
Synonyms Amphiphysin 2, Amphl
MMRRC Submission 067487-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8050 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 32510283-32568790 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 32539198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 44 (F44V)
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: F44V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025239
Gene: ENSMUSG00000024381
AA Change: F44V

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: F44V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000089590
Gene: ENSMUSG00000024381
AA Change: F44V

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410002F23Rik T A 7: 43,900,677 (GRCm39) V194E possibly damaging Het
Adgrv1 T C 13: 81,561,296 (GRCm39) N5406S probably damaging Het
Arhgef38 T A 3: 132,843,323 (GRCm39) R416* probably null Het
Asb7 T A 7: 66,328,932 (GRCm39) Q36L probably benign Het
Bbof1 G A 12: 84,457,991 (GRCm39) M85I probably benign Het
Bnc2 C A 4: 84,210,573 (GRCm39) V599L probably benign Het
Bnip3l A G 14: 67,226,651 (GRCm39) S181P probably damaging Het
Btnl9 A G 11: 49,066,442 (GRCm39) L374P probably benign Het
Cd109 T C 9: 78,571,633 (GRCm39) I424T probably benign Het
Cdhr2 G A 13: 54,882,035 (GRCm39) V1162M probably damaging Het
Dgkb G A 12: 38,174,216 (GRCm39) E181K probably benign Het
Dnase1 A T 16: 3,855,861 (GRCm39) D64V probably damaging Het
E130308A19Rik T C 4: 59,719,767 (GRCm39) I433T probably damaging Het
Ecsit C T 9: 21,987,592 (GRCm39) R149H probably benign Het
Eif1ad8 G A 12: 87,563,911 (GRCm39) R82Q possibly damaging Het
Enpep A T 3: 129,099,165 (GRCm39) V437E probably damaging Het
Esrp1 A T 4: 11,338,767 (GRCm39) V679D probably damaging Het
Fa2h T A 8: 112,074,817 (GRCm39) probably null Het
Fabp1 G A 6: 71,176,956 (GRCm39) E16K probably damaging Het
Fstl5 T A 3: 76,614,810 (GRCm39) S624T probably benign Het
Gemin5 G A 11: 58,019,686 (GRCm39) R1128W probably benign Het
H2bc8 T C 13: 23,755,841 (GRCm39) S79P probably damaging Het
Hps3 T C 3: 20,057,492 (GRCm39) H896R probably benign Het
Hsf1 T A 15: 76,382,481 (GRCm39) I284K probably benign Het
Igkv3-2 T A 6: 70,675,988 (GRCm39) I99N probably damaging Het
Iqub T A 6: 24,503,784 (GRCm39) I163F possibly damaging Het
Jak2 T C 19: 29,275,732 (GRCm39) I724T probably damaging Het
Kbtbd3 A T 9: 4,330,408 (GRCm39) T261S probably benign Het
Kctd20 G T 17: 29,171,732 (GRCm39) probably null Het
Kif28 C T 1: 179,537,014 (GRCm39) V490M probably benign Het
Kif9 T C 9: 110,348,208 (GRCm39) L677P probably damaging Het
Klhl18 T C 9: 110,257,829 (GRCm39) Y537C probably damaging Het
Mmut T A 17: 41,254,784 (GRCm39) I331K probably benign Het
Myo5a T A 9: 75,089,228 (GRCm39) S1119R probably damaging Het
Napepld C A 5: 21,870,319 (GRCm39) E366D probably benign Het
Nbea A G 3: 55,895,402 (GRCm39) V1540A probably damaging Het
Neb T A 2: 52,111,738 (GRCm39) I130L probably benign Het
Opcml T C 9: 28,724,640 (GRCm39) V146A probably damaging Het
Or2g7 T C 17: 38,378,370 (GRCm39) S103P probably damaging Het
Or2r11 A T 6: 42,437,764 (GRCm39) L63H probably damaging Het
Or7e178 C T 9: 20,225,941 (GRCm39) D92N probably damaging Het
Pappa2 A C 1: 158,675,970 (GRCm39) C925W probably damaging Het
Parp12 T A 6: 39,066,038 (GRCm39) N562Y probably damaging Het
Patj C A 4: 98,427,201 (GRCm39) H1198Q probably benign Het
Pcyox1 T A 6: 86,366,128 (GRCm39) K362M possibly damaging Het
Pcyt2 T C 11: 120,501,765 (GRCm39) Y350C probably benign Het
Pkd1 A T 17: 24,784,617 (GRCm39) T388S probably benign Het
Prl3d1 T A 13: 27,284,011 (GRCm39) Y193* probably null Het
Psme1 A T 14: 55,817,056 (GRCm39) D15V possibly damaging Het
Qrsl1 G A 10: 43,750,631 (GRCm39) R476C probably damaging Het
Ranbp2 A G 10: 58,315,441 (GRCm39) N2054D probably damaging Het
Serpinb1c T A 13: 33,066,052 (GRCm39) K298* probably null Het
Slc22a27 A T 19: 7,857,532 (GRCm39) M355K probably benign Het
Spp1 T A 5: 104,588,280 (GRCm39) H227Q probably benign Het
Stam2 T A 2: 52,609,785 (GRCm39) N75I probably damaging Het
Tacc1 T C 8: 25,659,230 (GRCm39) T579A probably benign Het
Tbx3 A G 5: 119,821,132 (GRCm39) D734G probably benign Het
Tmem233 G T 5: 116,221,141 (GRCm39) S35* probably null Het
Trim43c A T 9: 88,722,390 (GRCm39) E12V probably damaging Het
Trio A G 15: 27,891,540 (GRCm39) S463P unknown Het
Uggt2 A T 14: 119,263,834 (GRCm39) D1065E probably damaging Het
Usp1 A G 4: 98,817,150 (GRCm39) N114S probably benign Het
Usp34 A G 11: 23,396,787 (GRCm39) E2377G Het
Virma T A 4: 11,528,643 (GRCm39) H1243Q probably benign Het
Vmn2r3 A T 3: 64,178,714 (GRCm39) V517D probably damaging Het
Zfp931 T C 2: 177,709,889 (GRCm39) K166E probably damaging Het
Zp3 T A 5: 136,011,604 (GRCm39) Y141N 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
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
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'- ATACAACCATTCTGCCCATTGC -3'
(R):5'- AGGATGCCCTAAGAGTGTTTC -3'

Sequencing Primer
(F):5'- TTGCACAAGGGACAGTCCTCATG -3'
(R):5'- CAGGCTTTAGAGTCAGACACCTTG -3'
Posted On 2020-01-23