Incidental Mutation 'R4711:Bin3'
ID 397189
Institutional Source Beutler Lab
Gene Symbol Bin3
Ensembl Gene ENSMUSG00000022089
Gene Name bridging integrator 3
Synonyms 1700015F07Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.298) question?
Stock # R4711 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 70337538-70375413 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 70366288 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000022680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022680] [ENSMUST00000228717]
AlphaFold Q9JI08
Predicted Effect probably null
Transcript: ENSMUST00000022680
SMART Domains Protein: ENSMUSP00000022680
Gene: ENSMUSG00000022089

DomainStartEndE-ValueType
BAR 5 225 2.05e-55 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226385
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227841
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228049
Predicted Effect probably benign
Transcript: ENSMUST00000228717
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg14 G A 14: 47,783,298 (GRCm39) R346C probably damaging Het
Ccser1 A G 6: 61,288,910 (GRCm39) N358D possibly damaging Het
Col20a1 G C 2: 180,634,284 (GRCm39) G83A probably damaging Het
Copa T G 1: 171,947,555 (GRCm39) F1124V probably damaging Het
Cyp2c66 G A 19: 39,151,843 (GRCm39) R186H possibly damaging Het
Dmxl2 G A 9: 54,358,208 (GRCm39) T323M probably benign Het
Dner T C 1: 84,361,618 (GRCm39) I664V possibly damaging Het
Erp29 A G 5: 121,583,293 (GRCm39) I211T possibly damaging Het
Exd1 A G 2: 119,369,232 (GRCm39) S128P possibly damaging Het
Grik4 T A 9: 42,540,389 (GRCm39) N264Y probably damaging Het
Gsdma2 T A 11: 98,540,439 (GRCm39) S119R probably damaging Het
H2ac1 C T 13: 24,118,796 (GRCm39) P118S possibly damaging Het
Ift140 T A 17: 25,313,691 (GRCm39) probably null Het
Ino80c T C 18: 24,247,222 (GRCm39) N59S probably benign Het
Maob T C X: 16,582,662 (GRCm39) T400A probably benign Het
Mast4 A G 13: 103,470,627 (GRCm39) V25A probably benign Het
Mr1 T C 1: 155,012,336 (GRCm39) T193A probably benign Het
Muc5b C A 7: 141,399,770 (GRCm39) F414L unknown Het
Nat10 A T 2: 103,578,612 (GRCm39) C197* probably null Het
Nt5c1b A G 12: 10,420,093 (GRCm39) K11E probably damaging Het
Or5k8 A T 16: 58,645,069 (GRCm39) M1K probably null Het
Or8i2 T C 2: 86,852,370 (GRCm39) I173V probably damaging Het
Pak5 A G 2: 135,929,437 (GRCm39) I582T probably damaging Het
Pcdha12 A G 18: 37,153,976 (GRCm39) I232V probably benign Het
Pde8b T A 13: 95,166,958 (GRCm39) T664S probably benign Het
Pdik1l G C 4: 134,006,301 (GRCm39) R214G probably benign Het
Prss37 C T 6: 40,492,381 (GRCm39) V157M probably benign Het
Psma5-ps A G 10: 85,149,667 (GRCm39) noncoding transcript Het
Ring1 T C 17: 34,241,333 (GRCm39) E261G possibly damaging Het
Sf3a3 C A 4: 124,621,974 (GRCm39) D371E probably benign Het
Spag9 T A 11: 94,005,177 (GRCm39) probably null Het
Spred1 T A 2: 117,005,866 (GRCm39) S209R probably benign Het
Tas2r121 T C 6: 132,677,853 (GRCm39) T40A probably benign Het
Tbc1d5 T C 17: 51,242,537 (GRCm39) T187A probably damaging Het
Tenm2 C T 11: 36,191,039 (GRCm39) V311I probably damaging Het
Thoc2l T C 5: 104,667,527 (GRCm39) V683A probably damaging Het
Tnrc6a A G 7: 122,770,301 (GRCm39) D697G probably damaging Het
Trappc14 T C 5: 138,261,167 (GRCm39) probably benign Het
Ttn G A 2: 76,660,404 (GRCm39) A7439V possibly damaging Het
Wdr64 T C 1: 175,626,795 (GRCm39) I838T probably damaging Het
Wdr7 A G 18: 63,861,536 (GRCm39) T183A 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
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
R6269:Bin3 UTSW 14 70,374,611 (GRCm39) missense probably benign
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'- AGGTCAGCCTAAGAGTTTTGC -3'
(R):5'- CTGCATCTAGCTAGGTCCAAGG -3'

Sequencing Primer
(F):5'- GTCAGCCTAAGAGTTTTGCTATCCAG -3'
(R):5'- TGAGGAGCATAGGCCACTG -3'
Posted On 2016-06-28