Incidental Mutation 'IGL01353:Bin3'
ID75434
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: 0.293) question?
Stock #IGL01353
Quality Score
Status
Chromosome14
Chromosomal Location70100105-70138206 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 70134826 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 191 (L191F)
Ref Sequence ENSEMBL: ENSMUSP00000022680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022680] [ENSMUST00000035612]
Predicted Effect possibly damaging
Transcript: ENSMUST00000022680
AA Change: L191F

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000022680
Gene: ENSMUSG00000022089
AA Change: L191F

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
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A T 11: 94,352,108 V1304E possibly damaging Het
Acr T C 15: 89,569,492 L78P probably damaging Het
Adamts12 T C 15: 11,292,005 probably benign Het
Adgrb2 T C 4: 130,012,300 S872P probably damaging Het
Adhfe1 T A 1: 9,566,863 N413K probably benign Het
Apoh T A 11: 108,397,385 C110S probably damaging Het
Arhgap11a A G 2: 113,833,524 F805L probably damaging Het
BC049730 G T 7: 24,714,237 S226I probably damaging Het
Col3a1 A G 1: 45,333,638 probably benign Het
Dapp1 T C 3: 137,961,480 K107R probably benign Het
Dnah5 T C 15: 28,233,272 V259A probably benign Het
Dnah6 T C 6: 73,173,456 M775V probably benign Het
Dnah9 A G 11: 66,080,571 L1597P probably damaging Het
Elfn2 G A 15: 78,672,418 A643V possibly damaging Het
Epha6 T C 16: 60,424,895 T314A probably damaging Het
Fn1 C A 1: 71,586,939 W2237L probably damaging Het
Foxp4 T A 17: 47,888,153 D97V probably damaging Het
Kcnb2 C A 1: 15,710,824 T640K probably benign Het
Miga2 G A 2: 30,371,233 probably null Het
Nacad T A 11: 6,600,530 Q887L possibly damaging Het
Olfr1058 A T 2: 86,386,021 Y132* probably null Het
Olfr165 C T 16: 19,407,583 M145I probably benign Het
Olfr464 T C 11: 87,914,172 I245V probably benign Het
Olfr866 T C 9: 20,027,047 N297S probably damaging Het
Otub2 A T 12: 103,404,322 M288L probably benign Het
Otud4 A G 8: 79,665,021 S432G probably benign Het
Pcca G A 14: 122,582,617 V58I probably damaging Het
Pdpr T A 8: 111,121,278 probably null Het
Pinx1 C A 14: 63,866,115 Q48K probably benign Het
Pkd1l2 G T 8: 117,057,443 S698R probably benign Het
Psg29 A G 7: 17,205,013 R71G possibly damaging Het
Psmd3 T A 11: 98,690,600 V271E probably benign Het
Smarcc1 A G 9: 110,135,666 N97S probably benign Het
Sulf2 C T 2: 166,087,095 G319S probably damaging Het
Tmem67 C A 4: 12,079,895 C132F probably damaging Het
Ttll7 T C 3: 146,961,719 L780P probably damaging Het
Vmn1r223 A G 13: 23,249,256 T7A unknown Het
Vmn1r76 T G 7: 11,930,810 H159P probably damaging Het
Vnn1 G A 10: 23,900,840 C363Y probably damaging Het
Wdr64 T G 1: 175,731,585 L305V probably damaging Het
Zkscan4 T C 13: 21,484,348 L323P probably damaging Het
Zscan10 A T 17: 23,609,600 H295L probably damaging Het
Other mutations in Bin3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02311:Bin3 APN 14 70124217 missense probably benign 0.00
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
R7365:Bin3 UTSW 14 70134527 missense probably damaging 1.00
R8429:Bin3 UTSW 14 70137149 missense probably damaging 1.00
R8804:Bin3 UTSW 14 70123847 missense probably damaging 1.00
Posted On2013-10-07