Incidental Mutation 'R8429:Bin3'
ID 653670
Institutional Source Beutler Lab
Gene Symbol Bin3
Ensembl Gene ENSMUSG00000022089
Gene Name bridging integrator 3
MMRRC Submission 067774-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.229) question?
Stock # R8429 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 70100105-70138206 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70137149 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 209 (Y209C)
Ref Sequence ENSEMBL: ENSMUSP00000022680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022680] [ENSMUST00000035612]
AlphaFold Q9JI08
Predicted Effect probably damaging
Transcript: ENSMUST00000022680
AA Change: Y209C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000022680
Gene: ENSMUSG00000022089
AA Change: Y209C

BAR 5 225 2.05e-55 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000035612
SMART Domains Protein: ENSMUSP00000036924
Gene: ENSMUSG00000033712

low complexity region 23 37 N/A INTRINSIC
Pfam:S1-like 55 112 1.3e-29 PFAM
DBC1 339 462 8.48e-73 SMART
low complexity region 496 507 N/A INTRINSIC
low complexity region 534 545 N/A INTRINSIC
low complexity region 563 601 N/A INTRINSIC
low complexity region 627 640 N/A INTRINSIC
low complexity region 647 660 N/A INTRINSIC
SCOP:d2mysb_ 703 747 2e-3 SMART
Blast:HDc 704 758 7e-7 BLAST
coiled coil region 828 898 N/A INTRINSIC
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.] The product of this gene is a member of the BAR domain protein family. The encoded protein is comprised solely of a BAR domain which is predicted to form coiled-coil structures and proposed to mediate dimerization, sense and induce membrane curvature, and bind small GTPases. BAR domain proteins have been implicated in endocytosis, intracellular transport, and a diverse set of other processes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice develop juvenile cataracts characterized by defects in cytoskeletal filamentous actin organization, show a higher incidence of spontaneous lymphomas during aging, and display a greater sensitivity to lung adenocarcinoma formation in response to radiation or carcinogen treatment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik A T 17: 48,037,066 (GRCm38) L143* probably null Het
2900026A02Rik T C 5: 113,183,436 (GRCm38) T971A probably benign Het
4932415D10Rik G T 10: 82,289,467 (GRCm38) Q2570K possibly damaging Het
4933425L06Rik A G 13: 105,118,788 (GRCm38) Y459C probably damaging Het
Abca6 A T 11: 110,202,382 (GRCm38) C1022S probably benign Het
Adgrf4 G T 17: 42,667,449 (GRCm38) N334K probably benign Het
Baz1b A G 5: 135,217,331 (GRCm38) K545E probably benign Het
Btbd16 G A 7: 130,795,337 (GRCm38) A223T probably benign Het
C3 A G 17: 57,222,811 (GRCm38) V555A probably damaging Het
Calm3 T A 7: 16,919,667 (GRCm38) probably null Het
Cct4 T A 11: 22,996,030 (GRCm38) L124Q probably damaging Het
Cenpf C T 1: 189,657,307 (GRCm38) D1443N possibly damaging Het
Egfem1 G A 3: 29,657,268 (GRCm38) probably null Het
Epha4 G T 1: 77,390,036 (GRCm38) Q591K probably benign Het
Fanci T C 7: 79,438,385 (GRCm38) F929L possibly damaging Het
Fnip1 A T 11: 54,475,696 (GRCm38) D95V possibly damaging Het
Foxc1 A T 13: 31,807,776 (GRCm38) H190L probably benign Het
Gm45713 T C 7: 45,136,116 (GRCm38) S2G unknown Het
Grin2b T C 6: 135,733,916 (GRCm38) I877M probably damaging Het
Hadha T C 5: 30,144,257 (GRCm38) I119V probably benign Het
Hcar2 C T 5: 123,865,475 (GRCm38) probably benign Het
Krt13 A T 11: 100,121,125 (GRCm38) L124Q probably damaging Het
Larp1b A G 3: 40,977,227 (GRCm38) *336W probably null Het
Lrmp C A 6: 145,165,223 (GRCm38) D251E probably damaging Het
Man2c1 T C 9: 57,131,161 (GRCm38) L35P probably damaging Het
Meioc A T 11: 102,674,206 (GRCm38) N160I probably benign Het
Mfsd2b G T 12: 4,866,487 (GRCm38) Q331K possibly damaging Het
Mical2 T A 7: 112,345,253 (GRCm38) V930E probably benign Het
Mrgprb4 A T 7: 48,198,425 (GRCm38) F252I probably benign Het
Nars A G 18: 64,501,320 (GRCm38) Y511H probably damaging Het
Naxe C A 3: 88,058,152 (GRCm38) S84I probably damaging Het
Ncam2 A T 16: 81,589,635 (GRCm38) D634V probably damaging Het
Npat C T 9: 53,570,609 (GRCm38) Q1206* probably null Het
Nr1d2 G A 14: 18,215,409 (GRCm38) T201I probably benign Het
Nup155 C T 15: 8,112,420 (GRCm38) H99Y probably damaging Het
Olfr1130 G T 2: 87,607,524 (GRCm38) L45F probably benign Het
Olfr1289 G A 2: 111,483,495 (GRCm38) V50I possibly damaging Het
Olfr209 A G 16: 59,361,627 (GRCm38) V197A possibly damaging Het
Olfr826 A G 10: 130,180,223 (GRCm38) V219A possibly damaging Het
Pcnx3 C T 19: 5,665,384 (GRCm38) G1946E probably damaging Het
Pde6a T A 18: 61,232,844 (GRCm38) Y214N probably damaging Het
Pex7 T C 10: 19,894,328 (GRCm38) T145A probably damaging Het
Plekhj1 C T 10: 80,796,470 (GRCm38) S146N probably benign Het
Ralgapb C T 2: 158,426,297 (GRCm38) P107S probably damaging Het
Satb1 A G 17: 51,767,950 (GRCm38) M506T probably damaging Het
Sh3gl1 T C 17: 56,018,821 (GRCm38) N203D possibly damaging Het
Slc7a12 A T 3: 14,497,282 (GRCm38) I240F probably benign Het
Syt17 T A 7: 118,434,341 (GRCm38) Y144F probably benign Het
Thbd G T 2: 148,407,537 (GRCm38) T137K possibly damaging Het
Tmem114 A G 16: 8,412,167 (GRCm38) F124L probably damaging Het
Ubtd1 G T 19: 42,032,117 (GRCm38) probably null Het
Zfp458 A G 13: 67,258,088 (GRCm38) Y96H possibly damaging Het
Zfp78 T C 7: 6,378,493 (GRCm38) S181P probably benign Het
Other mutations in Bin3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01353:Bin3 APN 14 70,134,826 (GRCm38) missense possibly damaging 0.67
IGL02311:Bin3 APN 14 70,124,217 (GRCm38) missense probably benign 0.00
IGL02871:Bin3 APN 14 70,128,905 (GRCm38) nonsense probably null
R0504:Bin3 UTSW 14 70,123,887 (GRCm38) splice site probably null
R1564:Bin3 UTSW 14 70,134,769 (GRCm38) missense probably damaging 0.97
R2012:Bin3 UTSW 14 70,134,773 (GRCm38) missense probably damaging 1.00
R4328:Bin3 UTSW 14 70,118,605 (GRCm38) missense probably benign 0.03
R4711:Bin3 UTSW 14 70,128,839 (GRCm38) splice site probably null
R4857:Bin3 UTSW 14 70,128,895 (GRCm38) missense probably benign 0.29
R5318:Bin3 UTSW 14 70,134,512 (GRCm38) missense possibly damaging 0.89
R6269:Bin3 UTSW 14 70,137,162 (GRCm38) missense probably benign
R6303:Bin3 UTSW 14 70,137,176 (GRCm38) missense possibly damaging 0.90
R6304:Bin3 UTSW 14 70,137,176 (GRCm38) missense possibly damaging 0.90
R6345:Bin3 UTSW 14 70,137,227 (GRCm38) missense probably benign
R7365:Bin3 UTSW 14 70,134,527 (GRCm38) missense probably damaging 1.00
R8804:Bin3 UTSW 14 70,123,847 (GRCm38) missense probably damaging 1.00
R9670:Bin3 UTSW 14 70,129,560 (GRCm38) critical splice donor site probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2020-10-20