Incidental Mutation 'R2332:Banf1'
ID 246492
Institutional Source Beutler Lab
Gene Symbol Banf1
Ensembl Gene ENSMUSG00000024844
Gene Name BAF nuclear assembly factor 1
Synonyms barrier to autointegration factor 1, C78287, Bcrp1
MMRRC Submission 040322-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R2332 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 5414661-5416904 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 5415058 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 84 (W84*)
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 null
Transcript: ENSMUST00000025762
AA Change: W84*
SMART Domains Protein: ENSMUSP00000025762
Gene: ENSMUSG00000024844
AA Change: W84*

DomainStartEndE-ValueType
BAF 1 88 3.68e-59 SMART
Predicted Effect probably null
Transcript: ENSMUST00000170010
AA Change: W84*
SMART Domains Protein: ENSMUSP00000126202
Gene: ENSMUSG00000024844
AA Change: W84*

DomainStartEndE-ValueType
BAF 1 88 3.68e-59 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 98% (47/48)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apc T C 18: 34,450,112 (GRCm39) I2302T possibly damaging Het
Apoa4 G A 9: 46,153,653 (GRCm39) V85I probably benign Het
Cdk13 A G 13: 17,893,280 (GRCm39) L627P probably damaging Het
Cep250 A G 2: 155,832,527 (GRCm39) E1483G probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Ddx60 A G 8: 62,490,125 (GRCm39) E1698G probably benign Het
Depdc1a C A 3: 159,229,503 (GRCm39) Q612K probably damaging Het
Dnaja2 G A 8: 86,266,765 (GRCm39) R321C probably damaging Het
Fam186b T A 15: 99,178,309 (GRCm39) E339V probably benign Het
Fga T C 3: 82,938,704 (GRCm39) F360L probably damaging Het
Fut9 C T 4: 25,619,823 (GRCm39) W330* probably null Het
Ghr T C 15: 3,349,891 (GRCm39) N429S probably benign Het
Gm5444 A T 13: 4,883,624 (GRCm39) noncoding transcript Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Hoxa5 T C 6: 52,179,659 (GRCm39) I239V probably damaging Het
Hps6 T C 19: 45,992,930 (GRCm39) V289A possibly damaging Het
Iqcb1 A G 16: 36,663,801 (GRCm39) N190D possibly damaging Het
Map3k13 G A 16: 21,717,427 (GRCm39) probably null Het
Or10ag53 T C 2: 87,083,217 (GRCm39) V312A possibly damaging Het
Or52d13 A G 7: 103,110,293 (GRCm39) Y41H probably damaging Het
Pacsin1 A G 17: 27,923,885 (GRCm39) E93G possibly damaging Het
Pds5a A G 5: 65,784,422 (GRCm39) probably null Het
Ppp1r9b A T 11: 94,887,435 (GRCm39) E482D probably damaging Het
Rhobtb3 A G 13: 76,058,971 (GRCm39) S276P probably benign Het
Rimbp2 A G 5: 128,866,705 (GRCm39) V538A probably benign Het
Rmdn3 A T 2: 118,984,008 (GRCm39) probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Sh3rf1 C T 8: 61,679,321 (GRCm39) P121L probably benign Het
Slc4a11 A T 2: 130,526,379 (GRCm39) V855D probably benign Het
Speer4f1 C A 5: 17,684,522 (GRCm39) N183K probably damaging Het
Sstr4 A T 2: 148,238,330 (GRCm39) N314Y probably damaging Het
Synj2 A G 17: 6,074,069 (GRCm39) K288E probably damaging Het
Trhde T A 10: 114,428,070 (GRCm39) N409Y probably damaging Het
Ttn A T 2: 76,611,483 (GRCm39) W15604R probably damaging Het
Ugdh C T 5: 65,584,827 (GRCm39) V32I possibly damaging Het
Uhrf1 C A 17: 56,617,671 (GRCm39) probably null Het
Vps13d G T 4: 144,875,256 (GRCm39) D1750E probably benign Het
Wdfy3 A G 5: 102,036,189 (GRCm39) probably benign Het
Wnt4 C A 4: 137,023,831 (GRCm39) T266K probably benign Het
Wtap C T 17: 13,186,425 (GRCm39) R374Q possibly damaging Het
Zfp322a A T 13: 23,541,494 (GRCm39) C83S probably damaging Het
Other mutations in Banf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02136:Banf1 APN 19 5,415,098 (GRCm39) missense probably benign 0.00
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
Predicted Primers PCR Primer
(F):5'- TCCCAGAAAGATTGAAACGCTG -3'
(R):5'- AGCTTCAGAGATCTGGCCTC -3'

Sequencing Primer
(F):5'- CGCTGAGGGGAGAGAACTC -3'
(R):5'- TATCAGCGTGGACAGTCCTG -3'
Posted On 2014-10-30