Incidental Mutation 'IGL02136:Banf1'
ID281344
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Banf1
Ensembl Gene ENSMUSG00000024844
Gene Namebarrier to autointegration factor 1
SynonymsC78287, Bcrp1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.967) question?
Stock #IGL02136
Quality Score
Status
Chromosome19
Chromosomal Location5364641-5366645 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 5365070 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 71 (A71V)
Ref Sequence ENSEMBL: ENSMUSP00000126202 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025759] [ENSMUST00000025762] [ENSMUST00000170010]
Predicted Effect probably benign
Transcript: ENSMUST00000025759
SMART Domains Protein: ENSMUSP00000025759
Gene: ENSMUSG00000024841

DomainStartEndE-ValueType
eIF1a 20 103 1.03e-40 SMART
low complexity region 131 142 N/A INTRINSIC
low complexity region 154 168 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000025762
AA Change: A71V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000025762
Gene: ENSMUSG00000024844
AA Change: A71V

DomainStartEndE-ValueType
BAF 1 88 3.68e-59 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170010
AA Change: A71V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000126202
Gene: ENSMUSG00000024844
AA Change: A71V

DomainStartEndE-ValueType
BAF 1 88 3.68e-59 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was first identified by its ability to protect retroviruses from intramolecular integration and therefore promote intermolecular integration into the host cell genome. The protein forms a homodimer which localizes to both the nucleus and cytoplasm and is specifically associated with chromosomes during mitosis. This protein binds to double stranded DNA in a non-specific manner and also binds to LEM-domain containing proteins of the nuclear envelope. This protein is thought to facilitate nuclear reassembly by binding with both DNA and inner nuclear membrane proteins and thereby recruit chromatin to the nuclear periphery. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Jan 2009]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G T 1: 71,247,142 T2511K probably damaging Het
Acta2 T A 19: 34,251,830 D53V probably damaging Het
Cacng5 A T 11: 107,881,731 I97N probably benign Het
Clec14a T A 12: 58,268,629 E69V probably damaging Het
Cracr2a T C 6: 127,629,930 probably benign Het
Dysf A G 6: 84,108,167 R845G probably benign Het
Dzip3 T C 16: 48,927,582 N949S possibly damaging Het
Eprs T G 1: 185,384,983 W408G probably damaging Het
Fgf14 G A 14: 123,980,372 P240S possibly damaging Het
Fpgt G T 3: 155,093,352 A2E probably benign Het
Galntl5 T A 5: 25,220,062 S392R probably benign Het
Gatd1 A G 7: 141,408,960 *221Q probably null Het
Gcsam T A 16: 45,610,533 M1K probably null Het
Ksr2 A G 5: 117,616,894 N351S possibly damaging Het
Map1a T C 2: 121,300,212 V503A probably damaging Het
Myl12a T A 17: 70,996,856 K9* probably null Het
Ncapg2 A T 12: 116,460,583 M1129L probably benign Het
Olfr228 T C 2: 86,483,465 I92M probably damaging Het
Olfr744 T C 14: 50,618,251 S10P possibly damaging Het
Otof T C 5: 30,373,992 K1691E possibly damaging Het
Pdk4 A T 6: 5,486,715 M353K probably damaging Het
Pkhd1 A T 1: 20,275,615 W2730R probably damaging Het
Pkn2 T A 3: 142,853,590 K58I probably damaging Het
Plk5 T C 10: 80,363,167 probably null Het
Prkcq T C 2: 11,260,668 F399L probably benign Het
Ptprz1 G A 6: 22,972,822 V244M probably damaging Het
Rpusd2 T C 2: 119,038,178 F361L probably damaging Het
Rttn T A 18: 89,046,128 L1168I possibly damaging Het
S100a9 T C 3: 90,692,768 H107R probably benign Het
Serpinb3a T A 1: 107,046,285 M299L probably benign Het
Slfn8 G A 11: 83,003,465 Q783* probably null Het
Smc3 T C 19: 53,635,716 I721T probably benign Het
Top2b C A 14: 16,407,103 probably benign Het
Uvssa T A 5: 33,391,848 W351R probably damaging Het
Vmn2r107 G T 17: 20,374,906 V574L probably benign Het
Wdr3 G A 3: 100,138,725 R931* probably null Het
Other mutations in Banf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2332:Banf1 UTSW 19 5365030 nonsense probably null
R4671:Banf1 UTSW 19 5365844 missense probably benign 0.12
R7772:Banf1 UTSW 19 5365122 missense possibly damaging 0.69
Posted On2015-04-16