Incidental Mutation 'R4485:Banf2'
ID 331566
Institutional Source Beutler Lab
Gene Symbol Banf2
Ensembl Gene ENSMUSG00000037307
Gene Name BANF family member 2
Synonyms LOC228710, barrier to autointegration factor 2, 4930517K23Rik
MMRRC Submission 041741-MU
Accession Numbers
Essential gene? Not available question?
Stock # R4485 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 143875022-143915899 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 143915772 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 71 (T71M)
Ref Sequence ENSEMBL: ENSMUSP00000105659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037722] [ENSMUST00000110032]
AlphaFold Q8BVR0
Predicted Effect probably damaging
Transcript: ENSMUST00000037722
AA Change: T71M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046219
Gene: ENSMUSG00000037307
AA Change: T71M

DomainStartEndE-ValueType
BAF 1 89 1.22e-55 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110032
AA Change: T71M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105659
Gene: ENSMUSG00000037307
AA Change: T71M

DomainStartEndE-ValueType
BAF 1 89 1.22e-55 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agxt2 A T 15: 10,378,968 (GRCm39) I190L possibly damaging Het
Ahnak2 A G 12: 112,745,944 (GRCm39) probably benign Het
Apol7b C A 15: 77,307,866 (GRCm39) V210L probably benign Het
Cacna1s A G 1: 136,004,590 (GRCm39) D130G probably damaging Het
Capn8 T C 1: 182,426,306 (GRCm39) F214L possibly damaging Het
Ccdc168 A G 1: 44,099,283 (GRCm39) L605S probably benign Het
Cdk5rap2 A T 4: 70,157,520 (GRCm39) probably null Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Cpb1 T G 3: 20,303,865 (GRCm39) M400L probably benign Het
Eps15l1 A T 8: 73,153,531 (GRCm39) I52N possibly damaging Het
Gbp9 C G 5: 105,231,674 (GRCm39) G304A probably damaging Het
Gm14226 G A 2: 154,867,191 (GRCm39) V383I probably benign Het
Itprid1 A G 6: 55,864,051 (GRCm39) T126A probably benign Het
Npm2 A T 14: 70,885,749 (GRCm39) V152D possibly damaging Het
Nsd1 T C 13: 55,393,434 (GRCm39) V345A probably benign Het
Or56a3 T A 7: 104,735,808 (GRCm39) V295D probably damaging Het
Or5b107 T C 19: 13,142,855 (GRCm39) V159A possibly damaging Het
Or5b118 T C 19: 13,448,919 (GRCm39) I195T probably benign Het
Or5p58 T C 7: 107,694,222 (GRCm39) D185G probably benign Het
Otof T A 5: 30,532,344 (GRCm39) H1601L possibly damaging Het
Plat G A 8: 23,262,228 (GRCm39) S84N probably benign Het
Prss30 T C 17: 24,192,130 (GRCm39) D224G probably damaging Het
Psg25 C A 7: 18,260,203 (GRCm39) V232F probably damaging Het
Ptch1 C T 13: 63,682,143 (GRCm39) R537H probably damaging Het
Pus7l G T 15: 94,421,371 (GRCm39) H646Q probably benign Het
Ryr1 C T 7: 28,789,581 (GRCm39) S1511N probably damaging Het
Slc16a1 A G 3: 104,562,794 (GRCm39) K413R probably benign Het
Snrnp48 T A 13: 38,400,304 (GRCm39) M137K probably benign Het
Tecta T A 9: 42,248,570 (GRCm39) H1944L possibly damaging Het
Tmem145 A G 7: 25,006,587 (GRCm39) E65G possibly damaging Het
Vmn2r87 A T 10: 130,315,678 (GRCm39) Y129* probably null Het
Wdr7 A G 18: 63,910,621 (GRCm39) H671R possibly damaging Het
Zfp219 A G 14: 52,244,841 (GRCm39) V518A probably damaging Het
Zfp472 T C 17: 33,196,542 (GRCm39) W206R possibly damaging Het
Other mutations in Banf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB004:Banf2 UTSW 2 143,915,718 (GRCm39) missense probably benign 0.37
BB014:Banf2 UTSW 2 143,915,718 (GRCm39) missense probably benign 0.37
R7927:Banf2 UTSW 2 143,915,718 (GRCm39) missense probably benign 0.37
R9587:Banf2 UTSW 2 143,907,452 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CACACCCTAACCTTTGGCTG -3'
(R):5'- CAAAATCTGGGTCTGGTGGC -3'

Sequencing Primer
(F):5'- TGGCTGTCCCCTGAGTAG -3'
(R):5'- ATGGCCAGCTAGTATTGCC -3'
Posted On 2015-07-21