Incidental Mutation 'IGL01293:Bnc1'
ID 72987
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 # IGL01293
Quality Score
Chromosome 7
Chromosomal Location 81616401-81642047 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 81624237 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 330 (E330G)
Ref Sequence ENSEMBL: ENSMUSP00000026096 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026096]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000026096
AA Change: E330G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000026096
Gene: ENSMUSG00000025105
AA Change: E330G

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A G 4: 144,190,226 (GRCm39) V25A probably benign Het
Aadacl4fm5 G T 4: 144,504,159 (GRCm39) H331N probably benign Het
Aagab T C 9: 63,543,751 (GRCm39) V235A probably benign Het
Ash1l T C 3: 88,890,836 (GRCm39) V905A probably benign Het
Atrx A G X: 104,919,801 (GRCm39) S641P probably benign Het
Cenpq A T 17: 41,244,067 (GRCm39) S4T possibly damaging Het
Clvs1 T A 4: 9,281,559 (GRCm39) M1K probably null Het
Cul2 A G 18: 3,419,426 (GRCm39) K196E probably damaging Het
Cyp2d10 A T 15: 82,287,210 (GRCm39) V471E possibly damaging Het
Efhc2 T A X: 17,073,934 (GRCm39) I469L probably benign Het
Fhod3 C T 18: 25,153,709 (GRCm39) probably benign Het
Gm1968 A G 16: 29,777,632 (GRCm39) noncoding transcript Het
Hpdl T A 4: 116,678,141 (GRCm39) T107S possibly damaging Het
Il1rl1 G A 1: 40,485,376 (GRCm39) G276D possibly damaging Het
Irgq A G 7: 24,233,149 (GRCm39) D330G probably damaging Het
Kdm4b A G 17: 56,660,019 (GRCm39) D62G probably benign Het
Lama2 T C 10: 27,107,632 (GRCm39) T793A probably benign Het
Lrrk2 T C 15: 91,610,340 (GRCm39) F691L probably benign Het
Macf1 C T 4: 123,365,104 (GRCm39) G1654E probably benign Het
Mgat4c A T 10: 102,224,086 (GRCm39) Y100F probably benign Het
Ncapg A G 5: 45,839,196 (GRCm39) N532S probably benign Het
Nfkb1 T C 3: 135,296,600 (GRCm39) D782G probably damaging Het
Nthl1 G T 17: 24,857,683 (GRCm39) C294F probably damaging Het
Obp2b A G 2: 25,627,719 (GRCm39) H45R probably benign Het
Olfm1 A G 2: 28,104,715 (GRCm39) E156G probably damaging Het
Or14j2 A G 17: 37,886,308 (GRCm39) I2T probably benign Het
Or7g29 C A 9: 19,286,632 (GRCm39) A182S probably benign Het
Otud6b A G 4: 14,822,682 (GRCm39) probably benign Het
Patl2 T C 2: 121,954,291 (GRCm39) T427A probably benign Het
Pdzd8 T A 19: 59,288,218 (GRCm39) R1061W probably damaging Het
Plk3 A T 4: 116,990,194 (GRCm39) L137* probably null Het
Rps6ka6 T C X: 110,360,059 (GRCm39) probably benign Het
Shank1 T C 7: 44,003,660 (GRCm39) V1784A possibly damaging Het
Smc1b A T 15: 85,016,099 (GRCm39) S14T probably damaging Het
Sox4 C A 13: 29,136,664 (GRCm39) R114L probably damaging Het
Speg C T 1: 75,364,746 (GRCm39) R221W probably damaging Het
Tram1l1 T C 3: 124,115,788 (GRCm39) V316A probably benign Het
Virma G T 4: 11,521,114 (GRCm39) K840N probably damaging Het
Vmn1r49 A T 6: 90,049,394 (GRCm39) S203T probably damaging Het
Wdr1 T C 5: 38,686,886 (GRCm39) T293A probably benign Het
Xirp2 C T 2: 67,345,528 (GRCm39) P2590S possibly damaging Het
Zfp106 T C 2: 120,365,516 (GRCm39) Y297C possibly damaging Het
Zfp128 A G 7: 12,625,351 (GRCm39) *573W probably null Het
Zfp575 G A 7: 24,285,182 (GRCm39) P153L probably damaging Het
Other mutations in Bnc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01123:Bnc1 APN 7 81,623,455 (GRCm39) nonsense probably null
IGL02064:Bnc1 APN 7 81,623,251 (GRCm39) missense probably benign 0.00
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 2013-10-07