Incidental Mutation 'IGL02136:Banf1'
ID 281344
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Banf1
Ensembl Gene ENSMUSG00000024844
Gene Name BAF nuclear assembly factor 1
Synonyms barrier to autointegration factor 1, C78287, Bcrp1
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # IGL02136
Quality Score
Status
Chromosome 19
Chromosomal Location 5414661-5416904 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 5415098 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold O54962
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: 71,286,301 (GRCm39) T2511K probably damaging Het
Acta2 T A 19: 34,229,230 (GRCm39) D53V probably damaging Het
Cacng5 A T 11: 107,772,557 (GRCm39) I97N probably benign Het
Clec14a T A 12: 58,315,415 (GRCm39) E69V probably damaging Het
Cracr2a T C 6: 127,606,893 (GRCm39) probably benign Het
Dysf A G 6: 84,085,149 (GRCm39) R845G probably benign Het
Dzip3 T C 16: 48,747,945 (GRCm39) N949S possibly damaging Het
Eprs1 T G 1: 185,117,180 (GRCm39) W408G probably damaging Het
Fgf14 G A 14: 124,217,784 (GRCm39) P240S possibly damaging Het
Fpgt G T 3: 154,798,989 (GRCm39) A2E probably benign Het
Galntl5 T A 5: 25,425,060 (GRCm39) S392R probably benign Het
Gatd1 A G 7: 140,988,873 (GRCm39) *221Q probably null Het
Gcsam T A 16: 45,430,896 (GRCm39) M1K probably null Het
Ksr2 A G 5: 117,754,959 (GRCm39) N351S possibly damaging Het
Map1a T C 2: 121,130,693 (GRCm39) V503A probably damaging Het
Myl12a T A 17: 71,303,851 (GRCm39) K9* probably null Het
Ncapg2 A T 12: 116,424,203 (GRCm39) M1129L probably benign Het
Or11g2 T C 14: 50,855,708 (GRCm39) S10P possibly damaging Het
Or8k41 T C 2: 86,313,809 (GRCm39) I92M probably damaging Het
Otof T C 5: 30,531,336 (GRCm39) K1691E possibly damaging Het
Pdk4 A T 6: 5,486,715 (GRCm39) M353K probably damaging Het
Pkhd1 A T 1: 20,345,839 (GRCm39) W2730R probably damaging Het
Pkn2 T A 3: 142,559,351 (GRCm39) K58I probably damaging Het
Plk5 T C 10: 80,199,001 (GRCm39) probably null Het
Prkcq T C 2: 11,265,479 (GRCm39) F399L probably benign Het
Ptprz1 G A 6: 22,972,821 (GRCm39) V244M probably damaging Het
Rpusd2 T C 2: 118,868,659 (GRCm39) F361L probably damaging Het
Rttn T A 18: 89,064,252 (GRCm39) L1168I possibly damaging Het
S100a9 T C 3: 90,600,075 (GRCm39) H107R probably benign Het
Serpinb3a T A 1: 106,974,015 (GRCm39) M299L probably benign Het
Slfn8 G A 11: 82,894,291 (GRCm39) Q783* probably null Het
Smc3 T C 19: 53,624,147 (GRCm39) I721T probably benign Het
Top2b C A 14: 16,407,103 (GRCm38) probably benign Het
Uvssa T A 5: 33,549,192 (GRCm39) W351R probably damaging Het
Vmn2r107 G T 17: 20,595,168 (GRCm39) V574L probably benign Het
Wdr3 G A 3: 100,046,041 (GRCm39) R931* probably null Het
Other mutations in Banf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2332:Banf1 UTSW 19 5,415,058 (GRCm39) nonsense probably null
R4671:Banf1 UTSW 19 5,415,872 (GRCm39) missense probably benign 0.12
R7772:Banf1 UTSW 19 5,415,150 (GRCm39) missense possibly damaging 0.69
Posted On 2015-04-16