Incidental Mutation 'IGL01353:Bin3'
ID 75434
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01353
Quality Score
Status
Chromosome 14
Chromosomal Location 70337538-70375413 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 70372275 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9JI08
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: 94,242,934 (GRCm39) V1304E possibly damaging Het
Acr T C 15: 89,453,695 (GRCm39) L78P probably damaging Het
Adamts12 T C 15: 11,292,091 (GRCm39) probably benign Het
Adgrb2 T C 4: 129,906,093 (GRCm39) S872P probably damaging Het
Adhfe1 T A 1: 9,637,088 (GRCm39) N413K probably benign Het
Apoh T A 11: 108,288,211 (GRCm39) C110S probably damaging Het
Arhgap11a A G 2: 113,663,869 (GRCm39) F805L probably damaging Het
Col3a1 A G 1: 45,372,798 (GRCm39) probably benign Het
Dapp1 T C 3: 137,667,241 (GRCm39) K107R probably benign Het
Dnah5 T C 15: 28,233,418 (GRCm39) V259A probably benign Het
Dnah6 T C 6: 73,150,439 (GRCm39) M775V probably benign Het
Dnah9 A G 11: 65,971,397 (GRCm39) L1597P probably damaging Het
Elfn2 G A 15: 78,556,618 (GRCm39) A643V possibly damaging Het
Epha6 T C 16: 60,245,258 (GRCm39) T314A probably damaging Het
Fn1 C A 1: 71,626,098 (GRCm39) W2237L probably damaging Het
Foxp4 T A 17: 48,199,078 (GRCm39) D97V probably damaging Het
Kcnb2 C A 1: 15,781,048 (GRCm39) T640K probably benign Het
Lypd10 G T 7: 24,413,662 (GRCm39) S226I probably damaging Het
Miga2 G A 2: 30,261,245 (GRCm39) probably null Het
Nacad T A 11: 6,550,530 (GRCm39) Q887L possibly damaging Het
Or2m13 C T 16: 19,226,333 (GRCm39) M145I probably benign Het
Or4d1 T C 11: 87,804,998 (GRCm39) I245V probably benign Het
Or7e173 T C 9: 19,938,343 (GRCm39) N297S probably damaging Het
Or8k24 A T 2: 86,216,365 (GRCm39) Y132* probably null Het
Otub2 A T 12: 103,370,581 (GRCm39) M288L probably benign Het
Otud4 A G 8: 80,391,650 (GRCm39) S432G probably benign Het
Pcca G A 14: 122,820,029 (GRCm39) V58I probably damaging Het
Pdpr T A 8: 111,847,910 (GRCm39) probably null Het
Pinx1 C A 14: 64,103,564 (GRCm39) Q48K probably benign Het
Pkd1l2 G T 8: 117,784,182 (GRCm39) S698R probably benign Het
Psg29 A G 7: 16,938,938 (GRCm39) R71G possibly damaging Het
Psmd3 T A 11: 98,581,426 (GRCm39) V271E probably benign Het
Smarcc1 A G 9: 109,964,734 (GRCm39) N97S probably benign Het
Sulf2 C T 2: 165,929,015 (GRCm39) G319S probably damaging Het
Tmem67 C A 4: 12,079,895 (GRCm39) C132F probably damaging Het
Ttll7 T C 3: 146,667,474 (GRCm39) L780P probably damaging Het
Vmn1r223 A G 13: 23,433,426 (GRCm39) T7A unknown Het
Vmn1r76 T G 7: 11,664,737 (GRCm39) H159P probably damaging Het
Vnn1 G A 10: 23,776,738 (GRCm39) C363Y probably damaging Het
Wdr64 T G 1: 175,559,151 (GRCm39) L305V probably damaging Het
Zkscan4 T C 13: 21,668,518 (GRCm39) L323P probably damaging Het
Zscan10 A T 17: 23,828,574 (GRCm39) H295L probably damaging Het
Other mutations in Bin3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-10-07