Incidental Mutation 'IGL02871:Bin3'
ID362564
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? Probably non essential (E-score: 0.182) question?
Stock #IGL02871
Quality Score
Status
Chromosome14
Chromosomal Location70100105-70138206 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 70128905 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 72 (C72*)
Ref Sequence ENSEMBL: ENSMUSP00000022680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022680] [ENSMUST00000228717]
Predicted Effect probably null
Transcript: ENSMUST00000022680
AA Change: C72*
SMART Domains Protein: ENSMUSP00000022680
Gene: ENSMUSG00000022089
AA Change: C72*

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl15 C A 13: 114,154,838 H179Q probably benign Het
Brca2 C T 5: 150,542,552 T1927I probably benign Het
Cap2 A G 13: 46,525,492 D26G probably benign Het
Casz1 T G 4: 148,944,319 S1074A possibly damaging Het
Chd5 C T 4: 152,376,685 P1244L probably damaging Het
Exosc9 A G 3: 36,565,281 N408S probably benign Het
Ezr G A 17: 6,742,390 Q352* probably null Het
Fbxl4 T A 4: 22,386,213 D273E probably benign Het
Gm3269 A T 14: 4,841,042 N193I probably damaging Het
Haus8 A T 8: 71,256,494 M90K probably benign Het
Igkv5-39 A T 6: 69,900,506 S89T probably benign Het
Nlrp4b A C 7: 10,715,265 D465A probably benign Het
Nsf A G 11: 103,862,056 probably benign Het
Nt5c1b G A 12: 10,381,325 M409I probably damaging Het
Olfr1195 T A 2: 88,683,084 Y216F probably damaging Het
Olfr1248 T C 2: 89,618,160 I11V probably benign Het
Olfr199 T A 16: 59,216,374 K80* probably null Het
Pga5 T C 19: 10,671,780 probably benign Het
Pigk T A 3: 152,766,516 I355K probably damaging Het
Prom1 T C 5: 44,029,676 Y404C probably damaging Het
Ptprs T C 17: 56,447,443 E199G probably damaging Het
Sec24c T C 14: 20,692,882 S935P probably benign Het
Slc22a13 T C 9: 119,196,011 T200A probably benign Het
Svep1 T A 4: 58,100,871 I1264L probably benign Het
Tcf7l2 T A 19: 55,918,997 C349S probably damaging Het
Thbs2 T C 17: 14,685,786 H284R probably benign Het
Vmn2r19 C T 6: 123,336,083 S704L probably damaging Het
Vmn2r50 A G 7: 10,047,787 Y344H possibly damaging Het
Other mutations in Bin3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01353:Bin3 APN 14 70134826 missense possibly damaging 0.67
IGL02311:Bin3 APN 14 70124217 missense probably benign 0.00
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
R7365:Bin3 UTSW 14 70134527 missense probably damaging 1.00
Posted On2015-12-18