Incidental Mutation 'R4671:Banf1'
ID 348474
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R4671 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 5414661-5416904 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5415872 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 33 (R33G)
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: R33G

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000025762
Gene: ENSMUSG00000024844
AA Change: R33G

DomainStartEndE-ValueType
BAF 1 88 3.68e-59 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170010
AA Change: R33G

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000126202
Gene: ENSMUSG00000024844
AA Change: R33G

DomainStartEndE-ValueType
BAF 1 88 3.68e-59 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 T C 19: 43,789,157 (GRCm39) S271P probably benign Het
Acod1 T G 14: 103,284,508 (GRCm39) M2R probably benign Het
Adamts20 T C 15: 94,301,206 (GRCm39) E106G possibly damaging Het
Adgra3 G A 5: 50,136,710 (GRCm39) T661M probably damaging Het
Akap13 T A 7: 75,229,312 (GRCm39) C161* probably null Het
Akr1c12 A C 13: 4,323,816 (GRCm39) S162A possibly damaging Het
Anks1 C A 17: 28,270,552 (GRCm39) H805N probably benign Het
Arhgap22 T C 14: 33,084,500 (GRCm39) C260R probably damaging Het
Bcas1 T C 2: 170,226,245 (GRCm39) K310R probably damaging Het
Cacna1c G T 6: 118,629,019 (GRCm39) H1240N probably damaging Het
Cartpt C T 13: 100,036,588 (GRCm39) probably null Het
Ccdc127 T A 13: 74,505,164 (GRCm39) Y237* probably null Het
Ccnb1ip1 A T 14: 51,029,734 (GRCm39) Y109* probably null Het
Cenpj A T 14: 56,790,840 (GRCm39) V403E possibly damaging Het
Cps1 A G 1: 67,235,719 (GRCm39) Y951C probably damaging Het
Dcakd T C 11: 102,890,634 (GRCm39) E51G possibly damaging Het
Dennd4a A T 9: 64,801,689 (GRCm39) N944I probably benign Het
Dus3l C T 17: 57,075,566 (GRCm39) R430C probably benign Het
Dync2h1 A G 9: 7,169,640 (GRCm39) L279P possibly damaging Het
Dzip3 G A 16: 48,799,953 (GRCm39) Q112* probably null Het
Eif1ad T A 19: 5,418,219 (GRCm39) M1K probably null Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fancg T C 4: 43,005,272 (GRCm39) E366G probably benign Het
Gin1 C T 1: 97,712,565 (GRCm39) P154S probably damaging Het
Gm11938 A T 11: 99,493,832 (GRCm39) C88S possibly damaging Het
Gpr183 T C 14: 122,192,149 (GRCm39) D124G probably damaging Het
Gucy2g T A 19: 55,226,500 (GRCm39) I139F probably damaging Het
Iqub A T 6: 24,479,183 (GRCm39) M453K probably benign Het
Jcad A G 18: 4,674,175 (GRCm39) T646A probably benign Het
Kif23 A T 9: 61,852,641 (GRCm39) D24E probably benign Het
Kmt2c T C 5: 25,571,175 (GRCm39) N845S probably damaging Het
Lhx5 G A 5: 120,578,032 (GRCm39) S284N probably benign Het
Lipf T G 19: 33,954,076 (GRCm39) V389G possibly damaging Het
Lrrc7 C T 3: 157,908,132 (GRCm39) probably null Het
Magi1 A G 6: 93,657,768 (GRCm39) probably null Het
Mast2 A G 4: 116,165,847 (GRCm39) S1287P probably damaging Het
Mepce C T 5: 137,784,905 (GRCm39) probably benign Het
Mkrn1 A G 6: 39,382,691 (GRCm39) V173A probably damaging Het
Myo1c C T 11: 75,560,856 (GRCm39) R770* probably null Het
Naip6 A G 13: 100,431,239 (GRCm39) probably null Het
Nsmce3 A T 7: 64,522,530 (GRCm39) L46Q probably benign Het
Or1n2 G A 2: 36,797,405 (GRCm39) C149Y probably benign Het
Or2j6 T G 7: 139,980,218 (GRCm39) Y247S probably damaging Het
Or4k44 A T 2: 111,368,280 (GRCm39) M118K probably damaging Het
Or51e2 A G 7: 102,391,808 (GRCm39) V134A probably damaging Het
Or56a3b T C 7: 104,771,513 (GRCm39) L283P probably damaging Het
Parp14 A G 16: 35,678,691 (GRCm39) F426L probably benign Het
Pcf11 A T 7: 92,306,737 (GRCm39) S1144T possibly damaging Het
Prpf3 T A 3: 95,758,976 (GRCm39) T59S possibly damaging Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Ptk7 A G 17: 46,885,392 (GRCm39) V678A probably benign Het
Rb1 A G 14: 73,511,116 (GRCm39) L331S probably damaging Het
Relch A G 1: 105,646,584 (GRCm39) I637V probably benign Het
Sell A G 1: 163,893,042 (GRCm39) Y86C probably damaging Het
Serpina1e G A 12: 103,914,341 (GRCm39) R328W probably damaging Het
Sertad3 T G 7: 27,176,091 (GRCm39) L175R possibly damaging Het
Stard9 G T 2: 120,529,121 (GRCm39) G1793W probably damaging Het
Stra6 T C 9: 58,056,517 (GRCm39) I383T probably benign Het
Tcf7l1 A G 6: 72,626,161 (GRCm39) L154P probably damaging Het
Tent5c C A 3: 100,380,515 (GRCm39) L80F probably benign Het
Tonsl A T 15: 76,507,610 (GRCm39) D55E probably benign Het
Ttc21b A G 2: 66,057,257 (GRCm39) S572P possibly damaging Het
Ttc7 T A 17: 87,654,048 (GRCm39) L575Q probably damaging Het
Ubl4b C T 3: 107,462,194 (GRCm39) S22N probably damaging Het
Ubr4 T C 4: 139,163,502 (GRCm39) V2634A possibly damaging Het
Zbed6 A G 1: 133,584,778 (GRCm39) V853A probably benign Het
Zfp46 A C 4: 136,017,484 (GRCm39) D106A probably damaging Het
Zfp951 A C 5: 104,962,567 (GRCm39) I333S probably benign Het
Other mutations in Banf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02136:Banf1 APN 19 5,415,098 (GRCm39) missense probably benign 0.00
R2332:Banf1 UTSW 19 5,415,058 (GRCm39) nonsense probably null
R7772:Banf1 UTSW 19 5,415,150 (GRCm39) missense possibly damaging 0.69
Predicted Primers PCR Primer
(F):5'- ACTGAGAAGCCCTGTCTCAAC -3'
(R):5'- CAGTAGCTGTGGTAGGATATTGCC -3'

Sequencing Primer
(F):5'- TGAGAAGCCCTGTCTCAACAAAAC -3'
(R):5'- GGACTTGTGGTCTTCAGCCC -3'
Posted On 2015-10-08