Incidental Mutation 'IGL02064:Bnc1'
ID 185544
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bnc1
Ensembl Gene ENSMUSG00000025105
Gene Name basonuclin zinc finger protein 1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02064
Quality Score
Chromosome 7
Chromosomal Location 81616401-81642047 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 81623251 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 659 (V659L)
Ref Sequence ENSEMBL: ENSMUSP00000026096 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026096]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000026096
AA Change: V659L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000026096
Gene: ENSMUSG00000025105
AA Change: V659L

low complexity region 2 25 N/A INTRINSIC
low complexity region 313 327 N/A INTRINSIC
ZnF_C2H2 354 377 1.43e-1 SMART
ZnF_C2H2 382 411 6.75e0 SMART
low complexity region 505 514 N/A INTRINSIC
low complexity region 541 554 N/A INTRINSIC
low complexity region 570 583 N/A INTRINSIC
low complexity region 619 633 N/A INTRINSIC
ZnF_C2H2 716 739 1.47e-3 SMART
ZnF_C2H2 744 771 5.62e0 SMART
low complexity region 855 876 N/A INTRINSIC
ZnF_C2H2 924 947 3.11e-2 SMART
ZnF_C2H2 952 979 8.09e-1 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 is a zinc finger protein present in the basal cell layer of the epidermis and in hair follicles. It is also found in abundance in the germ cells of testis and ovary. This protein is thought to play a regulatory role in keratinocyte proliferation and it may also be a regulator for rRNA transcription. Alternative splicing of this gene results in multiple transcript variants, and multiple polyadenylation sites are indicated.[provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit thinning and delayed wound healing of the corneal epithelium. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 T C 3: 59,784,463 (GRCm39) L312P probably damaging Het
Acap2 A C 16: 30,946,146 (GRCm39) W284G probably damaging Het
Acsf3 T C 8: 123,506,986 (GRCm39) L93P possibly damaging Het
Agbl2 G T 2: 90,614,368 (GRCm39) probably benign Het
Arap3 C T 18: 38,124,754 (GRCm39) G242D probably damaging Het
Asxl3 G A 18: 22,657,401 (GRCm39) V1804I possibly damaging Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Car9 A G 4: 43,507,363 (GRCm39) E103G probably benign Het
Chrm4 A G 2: 91,758,176 (GRCm39) T195A probably damaging Het
Cldn10 T C 14: 119,092,424 (GRCm39) I8T probably damaging Het
Col12a1 G A 9: 79,599,654 (GRCm39) S833F probably benign Het
Cryba2 T A 1: 74,929,720 (GRCm39) D139V possibly damaging Het
Emp1 T A 6: 135,354,210 (GRCm39) M1K probably null Het
Entrep3 C T 3: 89,095,903 (GRCm39) R545* probably null Het
Exosc4 C A 15: 76,213,836 (GRCm39) A220E probably damaging Het
Fryl A G 5: 73,282,112 (GRCm39) probably benign Het
Grid2 C T 6: 64,040,919 (GRCm39) T287I probably benign Het
Grifin C T 5: 140,550,494 (GRCm39) A7T probably damaging Het
Gzmg T C 14: 56,394,798 (GRCm39) K157E probably benign Het
Kcnq2 A T 2: 180,750,819 (GRCm39) I340N probably damaging Het
Klrb1 T A 6: 128,687,600 (GRCm39) H98L probably benign Het
Krt90 T C 15: 101,471,088 (GRCm39) H58R possibly damaging Het
Krtap5-2 C A 7: 141,729,468 (GRCm39) G71C unknown Het
Krtap7-1 A T 16: 89,305,011 (GRCm39) M47K probably benign Het
Lmntd1 T A 6: 145,373,002 (GRCm39) probably null Het
Ly6g2 A G 15: 75,093,505 (GRCm39) probably benign Het
Musk A G 4: 58,286,128 (GRCm39) N6S possibly damaging Het
Or2aj4 A G 16: 19,385,298 (GRCm39) C112R probably damaging Het
Or51a39 A G 7: 102,362,808 (GRCm39) F271L probably damaging Het
Or56a42-ps1 A T 7: 104,776,241 (GRCm39) F89Y possibly damaging Het
Or5p58 T G 7: 107,694,454 (GRCm39) T108P probably benign Het
Or8c15 T A 9: 38,120,874 (GRCm39) I122N probably damaging Het
Pcdh19 A G X: 132,586,719 (GRCm39) M432T probably benign Het
Prdm1 A G 10: 44,317,338 (GRCm39) F495S probably damaging Het
Prkar2a T C 9: 108,610,403 (GRCm39) Y211H possibly damaging Het
Ralgapa1 C A 12: 55,754,862 (GRCm39) G1143V probably damaging Het
Rbbp7 A G X: 161,552,783 (GRCm39) probably null Het
Scel C A 14: 103,770,762 (GRCm39) H65Q probably damaging Het
Sec24d T C 3: 123,137,463 (GRCm39) probably benign Het
Sfswap C A 5: 129,637,860 (GRCm39) T839N probably benign Het
Slc15a1 T C 14: 121,699,911 (GRCm39) I636V possibly damaging Het
Slc15a1 G T 14: 121,699,886 (GRCm39) P644H probably benign Het
Slc6a21 T A 7: 44,935,883 (GRCm39) I38N possibly damaging Het
Sucla2 C T 14: 73,816,913 (GRCm39) Q218* probably null Het
Tbc1d14 A T 5: 36,665,019 (GRCm39) L237* probably null Het
Trpm7 C T 2: 126,639,863 (GRCm39) E1578K probably damaging Het
Ttc17 G A 2: 94,161,012 (GRCm39) T896I probably damaging Het
Virma A G 4: 11,513,163 (GRCm39) D339G possibly damaging Het
Vmn2r54 T A 7: 12,349,533 (GRCm39) Y683F probably benign Het
Xrra1 T A 7: 99,563,411 (GRCm39) L466Q probably damaging Het
Other mutations in Bnc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01123:Bnc1 APN 7 81,623,455 (GRCm39) nonsense probably null
IGL01293:Bnc1 APN 7 81,624,237 (GRCm39) missense probably damaging 0.99
IGL02529:Bnc1 APN 7 81,627,116 (GRCm39) missense probably damaging 0.99
IGL03087:Bnc1 APN 7 81,624,390 (GRCm39) missense possibly damaging 0.86
R0088:Bnc1 UTSW 7 81,628,246 (GRCm39) missense possibly damaging 0.52
R0312:Bnc1 UTSW 7 81,627,072 (GRCm39) missense possibly damaging 0.95
R0631:Bnc1 UTSW 7 81,624,114 (GRCm39) missense probably damaging 0.99
R0924:Bnc1 UTSW 7 81,628,156 (GRCm39) splice site probably benign
R0928:Bnc1 UTSW 7 81,623,250 (GRCm39) missense probably benign
R1967:Bnc1 UTSW 7 81,623,384 (GRCm39) missense probably benign 0.03
R2243:Bnc1 UTSW 7 81,623,821 (GRCm39) missense possibly damaging 0.59
R2404:Bnc1 UTSW 7 81,618,463 (GRCm39) missense probably benign 0.08
R4079:Bnc1 UTSW 7 81,623,508 (GRCm39) missense probably damaging 0.99
R4416:Bnc1 UTSW 7 81,618,708 (GRCm39) missense probably benign
R5038:Bnc1 UTSW 7 81,618,462 (GRCm39) missense probably damaging 1.00
R5055:Bnc1 UTSW 7 81,624,163 (GRCm39) missense probably damaging 0.99
R7083:Bnc1 UTSW 7 81,623,058 (GRCm39) missense probably damaging 1.00
R7117:Bnc1 UTSW 7 81,623,109 (GRCm39) missense possibly damaging 0.92
R7151:Bnc1 UTSW 7 81,623,055 (GRCm39) missense possibly damaging 0.71
R7386:Bnc1 UTSW 7 81,624,240 (GRCm39) missense possibly damaging 0.81
R7950:Bnc1 UTSW 7 81,623,250 (GRCm39) missense probably benign
R8355:Bnc1 UTSW 7 81,618,624 (GRCm39) missense probably damaging 0.97
R8773:Bnc1 UTSW 7 81,623,719 (GRCm39) missense probably damaging 1.00
R9083:Bnc1 UTSW 7 81,624,646 (GRCm39) missense probably benign
Z1176:Bnc1 UTSW 7 81,624,290 (GRCm39) missense probably damaging 0.97
Z1177:Bnc1 UTSW 7 81,618,218 (GRCm39) missense probably damaging 0.97
Z1186:Bnc1 UTSW 7 81,623,007 (GRCm39) missense probably benign 0.00
Posted On 2014-05-07