Incidental Mutation 'R6269:Bin3'
ID 507246
Institutional Source Beutler Lab
Gene Symbol Bin3
Ensembl Gene ENSMUSG00000022089
Gene Name bridging integrator 3
Synonyms 1700015F07Rik
MMRRC Submission 044440-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.298) question?
Stock # R6269 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 70337538-70375413 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 70374611 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 213 (H213Q)
Ref Sequence ENSEMBL: ENSMUSP00000022680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022680] [ENSMUST00000035612]
AlphaFold Q9JI08
Predicted Effect probably benign
Transcript: ENSMUST00000022680
AA Change: H213Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022680
Gene: ENSMUSG00000022089
AA Change: H213Q

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

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226385
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227589
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228049
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T A 6: 86,941,033 (GRCm39) I609N unknown Het
Ano10 A T 9: 122,090,308 (GRCm39) I277N probably damaging Het
Ap2b1 A G 11: 83,237,499 (GRCm39) D483G probably damaging Het
As3mt T A 19: 46,708,391 (GRCm39) F226Y probably damaging Het
Atp10a G A 7: 58,453,487 (GRCm39) R855H possibly damaging Het
Bora T C 14: 99,311,103 (GRCm39) C512R probably damaging Het
Camk2b T A 11: 5,928,497 (GRCm39) D414V probably damaging Het
Ccdc27 A T 4: 154,122,179 (GRCm39) L233Q unknown Het
Ccdc73 T C 2: 104,737,978 (GRCm39) S25P probably damaging Het
Cenpf G A 1: 189,392,117 (GRCm39) H572Y probably benign Het
Chil4 A G 3: 106,111,487 (GRCm39) V209A probably damaging Het
Clstn1 T C 4: 149,728,524 (GRCm39) V650A probably benign Het
Cox6a2 T A 7: 127,805,437 (GRCm39) S11C probably benign Het
Csf1 T C 3: 107,656,317 (GRCm39) E238G probably benign Het
Cyp2c23 T A 19: 44,017,626 (GRCm39) M1L unknown Het
Cyp4a10 T A 4: 115,381,509 (GRCm39) M191K probably damaging Het
Cyp4a14 A G 4: 115,348,328 (GRCm39) V383A possibly damaging Het
D130052B06Rik T G 11: 33,573,916 (GRCm39) V171G possibly damaging Het
Dlgap2 A G 8: 14,872,369 (GRCm39) T617A probably benign Het
Dyrk4 T A 6: 126,863,690 (GRCm39) I351F probably damaging Het
Epg5 T C 18: 77,991,585 (GRCm39) V94A probably benign Het
Fam111a A G 19: 12,565,807 (GRCm39) T519A probably benign Het
Gdpd4 A G 7: 97,623,669 (GRCm39) S314G probably damaging Het
Gm9758 T A 5: 14,962,274 (GRCm39) K111N possibly damaging Het
Gpr137b A T 13: 13,538,096 (GRCm39) V285E probably damaging Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Itgal T A 7: 126,929,389 (GRCm39) L1102Q probably null Het
Kctd19 T A 8: 106,121,992 (GRCm39) Y185F possibly damaging Het
Kif5b A G 18: 6,223,558 (GRCm39) L317P possibly damaging Het
Klhl42 C A 6: 146,993,805 (GRCm39) A259E probably damaging Het
Lrrc2 A G 9: 110,810,017 (GRCm39) D351G probably damaging Het
Med12l A G 3: 59,135,243 (GRCm39) E797G probably damaging Het
Mink1 A G 11: 70,489,813 (GRCm39) E63G probably damaging Het
Nek9 T C 12: 85,379,103 (GRCm39) probably null Het
Or12e8 A T 2: 87,677,218 (GRCm39) H201L possibly damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Parp6 G A 9: 59,557,295 (GRCm39) V627I probably benign Het
Pclo C T 5: 14,572,108 (GRCm39) Q498* probably null Het
Pdlim5 T C 3: 142,018,086 (GRCm39) T170A possibly damaging Het
Pgap1 A T 1: 54,587,167 (GRCm39) Y136* probably null Het
Pgghg T A 7: 140,526,097 (GRCm39) N563K probably damaging Het
Plxnb2 A G 15: 89,044,916 (GRCm39) M1143T probably benign Het
Pnpla1 G A 17: 29,100,342 (GRCm39) G403E probably benign Het
Prc1 G A 7: 79,959,175 (GRCm39) R381Q probably damaging Het
Psph A T 5: 129,843,529 (GRCm39) I175N probably damaging Het
Rbbp8nl T A 2: 179,923,305 (GRCm39) K131* probably null Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Homo
Sde2 G A 1: 180,683,371 (GRCm39) V42I probably benign Het
Slc25a3 G A 10: 90,952,963 (GRCm39) R314* probably null Het
Spag9 A G 11: 93,935,333 (GRCm39) N48S probably benign Het
Srp54b T C 12: 55,302,757 (GRCm39) M351T possibly damaging Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Tcaf2 A G 6: 42,604,342 (GRCm39) L679P probably damaging Het
Tnrc6b T A 15: 80,764,944 (GRCm39) N815K probably benign Het
Usp17la A T 7: 104,509,557 (GRCm39) Q54L possibly damaging Het
Vmn2r92 T A 17: 18,387,036 (GRCm39) I125K probably benign Het
Xrra1 T C 7: 99,566,679 (GRCm39) Y732H probably damaging Het
Zfp131 A G 13: 120,227,941 (GRCm39) S603P possibly damaging Het
Zfp28 G T 7: 6,396,612 (GRCm39) S349I probably benign Het
Other mutations in Bin3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01353:Bin3 APN 14 70,372,275 (GRCm39) missense possibly damaging 0.67
IGL02311:Bin3 APN 14 70,361,666 (GRCm39) missense probably benign 0.00
IGL02871:Bin3 APN 14 70,366,354 (GRCm39) nonsense probably null
R0504:Bin3 UTSW 14 70,361,336 (GRCm39) splice site probably null
R1564:Bin3 UTSW 14 70,372,218 (GRCm39) missense probably damaging 0.97
R2012:Bin3 UTSW 14 70,372,222 (GRCm39) missense probably damaging 1.00
R4328:Bin3 UTSW 14 70,356,054 (GRCm39) missense probably benign 0.03
R4711:Bin3 UTSW 14 70,366,288 (GRCm39) splice site probably null
R4857:Bin3 UTSW 14 70,366,344 (GRCm39) missense probably benign 0.29
R5318:Bin3 UTSW 14 70,371,961 (GRCm39) missense possibly damaging 0.89
R6303:Bin3 UTSW 14 70,374,625 (GRCm39) missense possibly damaging 0.90
R6304:Bin3 UTSW 14 70,374,625 (GRCm39) missense possibly damaging 0.90
R6345:Bin3 UTSW 14 70,374,676 (GRCm39) missense probably benign
R7365:Bin3 UTSW 14 70,371,976 (GRCm39) missense probably damaging 1.00
R8429:Bin3 UTSW 14 70,374,598 (GRCm39) missense probably damaging 1.00
R8804:Bin3 UTSW 14 70,361,296 (GRCm39) missense probably damaging 1.00
R9670:Bin3 UTSW 14 70,367,009 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CCTAGACTGCTGAGGGATAGATAG -3'
(R):5'- AGATGTCACCTGTGTCCCAAAG -3'

Sequencing Primer
(F):5'- TCTAAGAGGCAGTGATGGAAC -3'
(R):5'- CCTGTGTCCCAAAGAGTCTAAGG -3'
Posted On 2018-03-15