Incidental Mutation 'IGL02311:Bin3'
ID287799
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bin3
Ensembl Gene ENSMUSG00000022089
Gene Namebridging integrator 3
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.372) question?
Stock #IGL02311
Quality Score
Status
Chromosome14
Chromosomal Location70100105-70138206 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 70124217 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 45 (M45L)
Ref Sequence ENSEMBL: ENSMUSP00000022680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022680] [ENSMUST00000228717]
Predicted Effect probably benign
Transcript: ENSMUST00000022680
AA Change: M45L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000022680
Gene: ENSMUSG00000022089
AA Change: M45L

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
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik C A 5: 24,997,707 probably benign Het
Adam21 T G 12: 81,560,892 D32A probably benign Het
Asns A G 6: 7,676,233 probably null Het
Cfap44 A T 16: 44,404,771 probably benign Het
Cmya5 T C 13: 93,090,655 T2642A probably benign Het
Dbndd2 T C 2: 164,488,702 S92P possibly damaging Het
Dclre1b A C 3: 103,808,093 F30V probably damaging Het
Dock6 T C 9: 21,844,328 D200G probably damaging Het
Epb41l4b C A 4: 57,076,456 R335L probably damaging Het
Fscn1 T C 5: 142,972,010 V304A probably benign Het
Gm7008 G A 12: 40,223,386 probably benign Het
Gm8237 A G 14: 5,864,425 probably null Het
Ifih1 T C 2: 62,610,503 T440A probably damaging Het
Mepe C T 5: 104,337,705 S237F probably damaging Het
Nr4a2 T C 2: 57,111,731 I174V probably benign Het
Olfr251 C T 9: 38,377,898 Q6* probably null Het
Olfr706 A G 7: 106,885,894 Y308H probably benign Het
Orc1 G T 4: 108,599,974 V404L probably benign Het
Pcsk5 G T 19: 17,433,420 Y1869* probably null Het
Phf21b A G 15: 84,793,894 probably null Het
Pigg A G 5: 108,336,380 T631A probably benign Het
Plxnb1 A G 9: 109,101,122 N349D probably benign Het
Scaf11 T C 15: 96,418,756 S976G probably benign Het
Scn8a G T 15: 101,013,283 M861I probably damaging Het
Stau1 T C 2: 166,950,319 N433S probably damaging Het
Synrg A G 11: 84,019,804 K854R probably benign Het
Tbata T A 10: 61,179,455 C150* probably null Het
Tcn2 G A 11: 3,917,692 P417S probably damaging Het
Tlr1 A T 5: 64,925,947 L429* probably null Het
Tpr G T 1: 150,398,653 D104Y probably damaging Het
Ubash3b T C 9: 41,047,037 T16A probably benign Het
Uso1 T A 5: 92,187,776 S548T probably benign Het
Vps13b T A 15: 35,709,514 V1869E probably benign Het
Vps18 T C 2: 119,290,251 C64R probably benign Het
Zic2 C A 14: 122,476,194 N173K probably damaging Het
Other mutations in Bin3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01353:Bin3 APN 14 70134826 missense possibly damaging 0.67
IGL02871:Bin3 APN 14 70128905 nonsense probably null
R0504:Bin3 UTSW 14 70123887 splice site probably null
R1564:Bin3 UTSW 14 70134769 missense probably damaging 0.97
R2012:Bin3 UTSW 14 70134773 missense probably damaging 1.00
R4328:Bin3 UTSW 14 70118605 missense probably benign 0.03
R4711:Bin3 UTSW 14 70128839 splice site probably null
R4857:Bin3 UTSW 14 70128895 missense probably benign 0.29
R5318:Bin3 UTSW 14 70134512 missense possibly damaging 0.89
R6269:Bin3 UTSW 14 70137162 missense probably benign
R6303:Bin3 UTSW 14 70137176 missense possibly damaging 0.90
R6304:Bin3 UTSW 14 70137176 missense possibly damaging 0.90
R6345:Bin3 UTSW 14 70137227 missense probably benign
Posted On2015-04-16