Incidental Mutation 'R7772:Banf1'
ID 598677
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 045828-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R7772 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 5414661-5416904 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5415150 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 54 (K54E)
Ref Sequence ENSEMBL: ENSMUSP00000025762 (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 possibly damaging
Transcript: ENSMUST00000025762
AA Change: K54E

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000025762
Gene: ENSMUSG00000024844
AA Change: K54E

DomainStartEndE-ValueType
BAF 1 88 3.68e-59 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000170010
AA Change: K54E

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000126202
Gene: ENSMUSG00000024844
AA Change: K54E

DomainStartEndE-ValueType
BAF 1 88 3.68e-59 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 99% (68/69)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921536K21Rik T A 11: 3,839,784 (GRCm39) probably null Het
Adora3 T C 3: 105,815,039 (GRCm39) V263A probably benign Het
Adprhl1 C T 8: 13,298,682 (GRCm39) V83I probably damaging Het
Arfgef1 A G 1: 10,227,235 (GRCm39) V1368A possibly damaging Het
Arid4a A T 12: 71,108,363 (GRCm39) N56I possibly damaging Het
Art3 A T 5: 92,551,472 (GRCm39) Y277F probably damaging Het
Atp2a1 A T 7: 126,047,707 (GRCm39) probably null Het
Bckdk A G 7: 127,505,073 (GRCm39) Y151C probably damaging Het
C1qtnf3 C A 15: 10,958,130 (GRCm39) P58T possibly damaging Het
Cadps2 T C 6: 23,390,445 (GRCm39) R744G probably benign Het
Cdc25b A G 2: 131,031,029 (GRCm39) D118G probably damaging Het
Cnot9 G A 1: 74,566,151 (GRCm39) V181I probably damaging Het
Cobl C T 11: 12,204,488 (GRCm39) G738D probably benign Het
Col18a1 T A 10: 76,904,220 (GRCm39) probably null Het
Crnkl1 A G 2: 145,772,564 (GRCm39) V171A probably benign Het
Dhx57 C T 17: 80,580,507 (GRCm39) D482N possibly damaging Het
Dpysl2 A T 14: 67,066,425 (GRCm39) probably null Het
Drd3 G T 16: 43,582,758 (GRCm39) A52S probably benign Het
Dst T C 1: 34,220,469 (GRCm39) V2091A possibly damaging Het
Evpl T C 11: 116,112,261 (GRCm39) T1810A probably benign Het
Fbxo2 T A 4: 148,248,783 (GRCm39) W92R probably damaging Het
Gas2l2 T A 11: 83,320,103 (GRCm39) D51V possibly damaging Het
Gm11232 A T 4: 71,674,818 (GRCm39) V228E possibly damaging Het
Gm14305 C T 2: 176,412,764 (GRCm39) Q219* probably null Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Gpr39 G T 1: 125,605,334 (GRCm39) M87I possibly damaging Het
Heatr1 T C 13: 12,432,522 (GRCm39) M1089T probably benign Het
Ifi206 A T 1: 173,308,640 (GRCm39) M452K Het
Ints8 A T 4: 11,227,190 (GRCm39) I561N probably damaging Het
Itgb2 A T 10: 77,396,946 (GRCm39) K660N probably benign Het
Jun A C 4: 94,939,081 (GRCm39) V143G probably benign Het
Kalrn A G 16: 33,851,952 (GRCm39) M2076T probably benign Het
Krt10 G T 11: 99,279,913 (GRCm39) S82R unknown Het
Lipm T A 19: 34,095,291 (GRCm39) H295Q probably damaging Het
Mybpc2 A C 7: 44,165,348 (GRCm39) probably null Het
Nedd4 T C 9: 72,584,608 (GRCm39) V103A possibly damaging Het
Nol10 T C 12: 17,398,586 (GRCm39) I11T probably damaging Het
Nup210l A G 3: 90,067,233 (GRCm39) S758G probably damaging Het
Or13d1 T A 4: 52,970,713 (GRCm39) C31S probably damaging Het
Or52r1c T G 7: 102,735,388 (GRCm39) I216S probably benign Het
Or8d4 T C 9: 40,038,661 (GRCm39) I199V probably benign Het
Osbpl9 T C 4: 108,923,384 (GRCm39) H425R probably damaging Het
Parp1 G T 1: 180,416,963 (GRCm39) R582S possibly damaging Het
Piwil1 A T 5: 128,816,527 (GRCm39) R36S probably benign Het
Pjvk T C 2: 76,487,877 (GRCm39) probably null Het
Plekha6 G T 1: 133,097,760 (GRCm39) E31D possibly damaging Het
Polr1b C A 2: 128,967,464 (GRCm39) F952L probably damaging Het
Prm3 CTCTTCTTCTTCTTC CTCTTCTTCTTC 16: 10,608,565 (GRCm39) probably benign Het
Psmc6 T A 14: 45,581,107 (GRCm39) I301N probably damaging Het
Rfpl4 C A 7: 5,118,543 (GRCm39) S9I probably benign Het
Rnf14 G T 18: 38,442,629 (GRCm39) C310F probably damaging Het
Rnf17 T A 14: 56,715,144 (GRCm39) F845L probably benign Het
Robo2 T C 16: 73,758,777 (GRCm39) I665V probably benign Het
Rtl1 T A 12: 109,559,619 (GRCm39) H740L probably damaging Het
Ryr2 A G 13: 11,765,897 (GRCm39) S1280P probably benign Het
Slc12a8 G A 16: 33,371,335 (GRCm39) R126H probably damaging Het
Slc9a1 T C 4: 133,139,276 (GRCm39) F165L probably damaging Het
Snx19 T C 9: 30,340,221 (GRCm39) I453T probably damaging Het
Spag17 T C 3: 99,987,434 (GRCm39) Y1575H probably damaging Het
Spef2 T C 15: 9,704,567 (GRCm39) I415M probably damaging Het
Ssx2ip T G 3: 146,138,885 (GRCm39) I459S probably damaging Het
Stfa1 A G 16: 36,097,363 (GRCm39) probably null Het
Tmem156 A T 5: 65,237,517 (GRCm39) S48T probably damaging Het
Tmx3 T A 18: 90,545,918 (GRCm39) probably null Het
Unc93a A T 17: 13,328,639 (GRCm39) F405I possibly damaging Het
Vmn1r209 T A 13: 22,990,664 (GRCm39) I9F possibly damaging Het
Vmn2r93 A G 17: 18,533,482 (GRCm39) D462G probably damaging Het
Wdr90 T A 17: 26,080,465 (GRCm39) probably benign Het
Zfp551 T C 7: 12,152,535 (GRCm39) D66G probably damaging Het
Znrf4 A C 17: 56,819,247 (GRCm39) V20G possibly damaging Het
Zscan4d T C 7: 10,896,770 (GRCm39) E200G probably benign Het
Zup1 A T 10: 33,797,698 (GRCm39) probably null 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
R4671:Banf1 UTSW 19 5,415,872 (GRCm39) missense probably benign 0.12
Predicted Primers PCR Primer
(F):5'- ACCCTGGAGTACATAGGAGGTG -3'
(R):5'- TGCCCTCTGAAGTATTTACCAC -3'

Sequencing Primer
(F):5'- GGTGACAACAGCCATCTTTTC -3'
(R):5'- GCCCTCTGAAGTATTTACCACCTAAC -3'
Posted On 2019-11-26