Incidental Mutation 'R5055:Bnc1'
ID 390776
Institutional Source Beutler Lab
Gene Symbol Bnc1
Ensembl Gene ENSMUSG00000025105
Gene Name basonuclin zinc finger protein 1
Synonyms
MMRRC Submission 042645-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5055 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 81616401-81642047 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 81624163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 355 (F355I)
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: F355I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000026096
Gene: ENSMUSG00000025105
AA Change: F355I

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.0758 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.9%
Validation Efficiency 98% (84/86)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 G A 11: 46,013,996 (GRCm39) V329I probably damaging Het
Adgrl3 C A 5: 81,794,398 (GRCm39) A541E possibly damaging Het
Agbl1 A T 7: 76,063,325 (GRCm39) I263F probably damaging Het
Ash1l T C 3: 88,930,519 (GRCm39) probably null Het
Bccip A G 7: 133,316,652 (GRCm39) T91A probably benign Het
Bpifa2 A T 2: 153,855,630 (GRCm39) D185V probably damaging Het
Capn8 T A 1: 182,399,526 (GRCm39) V89D probably damaging Het
Cfap46 A T 7: 139,241,106 (GRCm39) M421K probably damaging Het
Chd2 A T 7: 73,130,256 (GRCm39) L800M probably damaging Het
Chd4 A G 6: 125,077,949 (GRCm39) D137G possibly damaging Het
Crtap A G 9: 114,219,208 (GRCm39) Y154H probably benign Het
Ctdp1 T A 18: 80,499,303 (GRCm39) Q213L probably damaging Het
Cts6 T C 13: 61,344,164 (GRCm39) Y296C probably damaging Het
Daxx G T 17: 34,131,134 (GRCm39) V354F probably benign Het
Dnah2 A G 11: 69,411,599 (GRCm39) I341T possibly damaging Het
Epha2 A G 4: 141,036,380 (GRCm39) D272G probably benign Het
Etfa A G 9: 55,407,417 (GRCm39) V24A probably damaging Het
Fbxl7 C A 15: 26,553,022 (GRCm39) G82W probably damaging Het
Fcamr G A 1: 130,739,174 (GRCm39) C158Y probably damaging Het
Fyb1 A C 15: 6,614,630 (GRCm39) probably benign Het
Gars1 G A 6: 55,045,077 (GRCm39) R454H probably damaging Het
Ghsr T C 3: 27,426,421 (GRCm39) V159A probably benign Het
Glp1r A T 17: 31,137,861 (GRCm39) Q97H probably benign Het
Gm27047 T C 6: 130,606,909 (GRCm39) noncoding transcript Het
Igkv3-3 A C 6: 70,664,223 (GRCm39) I22L probably benign Het
Inpp5b G T 4: 124,636,824 (GRCm39) probably null Het
Ipo9 C A 1: 135,330,097 (GRCm39) E448* probably null Het
Itgb2l A T 16: 96,229,003 (GRCm39) I400N probably damaging Het
Kat6b T A 14: 21,567,062 (GRCm39) H40Q probably damaging Het
Kcna7 G A 7: 45,056,015 (GRCm39) R77H probably damaging Het
Kcnq2 G T 2: 180,728,554 (GRCm39) probably benign Het
Klf7 T C 1: 64,118,439 (GRCm39) T53A probably benign Het
Kmt2a A G 9: 44,729,649 (GRCm39) probably benign Het
Lrp10 C T 14: 54,705,802 (GRCm39) R331C probably benign Het
Map4k5 A T 12: 69,878,332 (GRCm39) D289E probably benign Het
Mfsd4b2 A T 10: 39,799,773 (GRCm39) M43K possibly damaging Het
Msr1 T G 8: 40,076,997 (GRCm39) R138S possibly damaging Het
Myh7b G C 2: 155,474,293 (GRCm39) R1669S possibly damaging Het
Myh9 G A 15: 77,648,723 (GRCm39) A1711V probably benign Het
Myo18b A G 5: 113,023,083 (GRCm39) probably benign Het
Nampt A T 12: 32,883,120 (GRCm39) N102Y possibly damaging Het
Nell2 T C 15: 95,371,460 (GRCm39) I92V probably benign Het
Nes A G 3: 87,884,521 (GRCm39) N883D probably benign Het
Neurl3 T A 1: 36,312,463 (GRCm39) probably benign Het
Ocln T A 13: 100,675,930 (GRCm39) T188S probably benign Het
Or2ag20 T A 7: 106,464,937 (GRCm39) M250K probably damaging Het
Or5m10 T C 2: 85,717,585 (GRCm39) F147S probably benign Het
Parp14 T A 16: 35,664,733 (GRCm39) Q1305L probably benign Het
Pde3a C T 6: 141,433,682 (GRCm39) Q855* probably null Het
Pde4b T C 4: 102,052,311 (GRCm39) probably benign Het
Pdk2 T C 11: 94,930,242 (GRCm39) M65V probably benign Het
Phf21a T C 2: 92,182,201 (GRCm39) S377P probably damaging Het
Plcb2 T A 2: 118,548,703 (GRCm39) T408S probably benign Het
Ppp1r12b G T 1: 134,883,471 (GRCm39) A17E probably benign Het
Ppp6r2 A G 15: 89,167,152 (GRCm39) D789G probably benign Het
Prdm16 T C 4: 154,419,719 (GRCm39) M897V possibly damaging Het
Prss57 A G 10: 79,620,178 (GRCm39) probably null Het
Psd G T 19: 46,310,907 (GRCm39) L381I probably benign Het
Ptprq A T 10: 107,370,540 (GRCm39) D2050E probably benign Het
Rfc1 G T 5: 65,423,505 (GRCm39) N1034K probably damaging Het
Ryr3 C T 2: 112,661,504 (GRCm39) G1829S probably benign Het
Scaper T C 9: 55,767,003 (GRCm39) probably null Het
Scn5a A G 9: 119,351,632 (GRCm39) I783T probably damaging Het
Slc28a1 A G 7: 80,818,796 (GRCm39) N583S possibly damaging Het
Slc35e3 C T 10: 117,580,884 (GRCm39) G140D probably damaging Het
Slc6a9 G A 4: 117,725,347 (GRCm39) probably null Het
Sptlc1 A G 13: 53,496,218 (GRCm39) S376P probably benign Het
Sspo G A 6: 48,441,729 (GRCm39) C1913Y probably damaging Het
Taar7b A T 10: 23,876,845 (GRCm39) I337F possibly damaging Het
Tdpoz2 T A 3: 93,559,235 (GRCm39) I246F probably damaging Het
Trpa1 C T 1: 14,946,183 (GRCm39) V983M probably damaging Het
Trpm5 A T 7: 142,626,521 (GRCm39) M1112K probably benign Het
Tsbp1 G A 17: 34,667,770 (GRCm39) C154Y possibly damaging Het
Uso1 A T 5: 92,340,594 (GRCm39) K670I probably benign Het
Washc4 A G 10: 83,392,771 (GRCm39) D257G probably damaging Het
Wdr41 T A 13: 95,151,725 (GRCm39) probably null Het
Zbtb17 A G 4: 141,193,860 (GRCm39) Q668R possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- CTGTTCATTGGCATGTGCAG -3'
(R):5'- TCTCGGACAGCAGCTTCTTAAC -3'

Sequencing Primer
(F):5'- CATTGGCATGTGCAGGCGAG -3'
(R):5'- TTCAGGTTGAAAAAGAACAGTGCCTC -3'
Posted On 2016-06-06