Incidental Mutation 'R0928:Bnc1'
ID 80644
Institutional Source Beutler Lab
Gene Symbol Bnc1
Ensembl Gene ENSMUSG00000025105
Gene Name basonuclin zinc finger protein 1
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0928 (G1)
Quality Score 144
Status Not validated
Chromosome 7
Chromosomal Location 81616401-81642047 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 81623250 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 659 (V659A)
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: V659A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026096
Gene: ENSMUSG00000025105
AA Change: V659A

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.1%
  • 10x: 93.0%
  • 20x: 75.6%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,388,333 (GRCm39) D179V probably benign Het
Abcc1 T C 16: 14,207,849 (GRCm39) probably null Het
Adad1 G A 3: 37,130,889 (GRCm39) probably null Het
Apobec4 T C 1: 152,632,028 (GRCm39) Y19H probably damaging Het
Bco2 T A 9: 50,457,231 (GRCm39) T104S probably damaging Het
Ccdc168 C A 1: 44,096,388 (GRCm39) S1570I possibly damaging Het
Ccs T C 19: 4,875,988 (GRCm39) E184G probably damaging Het
Cfap70 T G 14: 20,493,987 (GRCm39) K97N probably damaging Het
Cracdl T C 1: 37,663,663 (GRCm39) D745G possibly damaging Het
Daam2 T C 17: 49,795,255 (GRCm39) I313V probably benign Het
Dach1 T C 14: 98,153,268 (GRCm39) S467G probably damaging Het
Dnah11 A G 12: 118,009,297 (GRCm39) S2122P probably damaging Het
Dnah3 T A 7: 119,629,274 (GRCm39) D1427V probably damaging Het
Dnai1 T C 4: 41,602,566 (GRCm39) F97L possibly damaging Het
Dsc1 A T 18: 20,243,306 (GRCm39) probably null Het
En2 A T 5: 28,375,329 (GRCm39) K291* probably null Het
Eps15 T C 4: 109,170,160 (GRCm39) V154A possibly damaging Het
Etnk1 A G 6: 143,130,429 (GRCm39) I183V probably benign Het
Fcrlb A T 1: 170,735,509 (GRCm39) V255D possibly damaging Het
Fry A T 5: 150,360,549 (GRCm39) E52V probably damaging Het
Garre1 A T 7: 33,947,671 (GRCm39) probably null Het
Gm57858 A C 3: 36,079,515 (GRCm39) N258K possibly damaging Het
Gtf2h4 T C 17: 35,981,777 (GRCm39) Y152C probably damaging Het
Hao1 C A 2: 134,347,536 (GRCm39) L256F possibly damaging Het
Helz T A 11: 107,517,519 (GRCm39) I685K probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Izumo2 A T 7: 44,364,847 (GRCm39) I171F possibly damaging Het
Krt87 C A 15: 101,389,161 (GRCm39) C57F probably benign Het
Mapkbp1 A G 2: 119,845,849 (GRCm39) H400R probably benign Het
Megf6 T A 4: 154,261,504 (GRCm39) V43E probably damaging Het
Mmut T C 17: 41,248,174 (GRCm39) I67T probably benign Het
Ninl A T 2: 150,805,395 (GRCm39) V396E probably damaging Het
Nvl A T 1: 180,921,467 (GRCm39) V844E probably benign Het
Or2b6 C T 13: 21,823,126 (GRCm39) C189Y probably damaging Het
P2rx3 A T 2: 84,865,642 (GRCm39) M1K probably null Het
Pabpn1l T C 8: 123,349,358 (GRCm39) T20A probably benign Het
Ppp3r2 C A 4: 49,681,439 (GRCm39) probably null Het
Prmt6 C T 3: 110,157,998 (GRCm39) G97D probably damaging Het
Prmt9 T C 8: 78,307,805 (GRCm39) V823A probably damaging Het
Skic3 T G 13: 76,261,711 (GRCm39) L142W probably damaging Het
Skint11 C A 4: 114,101,798 (GRCm39) D79E possibly damaging Het
Slc17a8 T A 10: 89,434,545 (GRCm39) H194L probably damaging Het
Slco6c1 T A 1: 97,032,573 (GRCm39) I293F possibly damaging Het
Tcl1b4 A T 12: 105,168,865 (GRCm39) H43L probably benign Het
Tm9sf1 T C 14: 55,873,914 (GRCm39) D528G probably damaging Het
Tpbpb C T 13: 61,049,989 (GRCm39) V47I probably benign Het
Ttn G T 2: 76,737,876 (GRCm39) probably benign Het
Usp28 T G 9: 48,942,191 (GRCm39) S341A possibly damaging Het
Vwa5a T C 9: 38,639,303 (GRCm39) Y345H probably damaging Het
Wdr11 C A 7: 129,208,377 (GRCm39) D377E probably damaging Het
Zer1 A G 2: 29,991,775 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- TGCAGATGTCACACTGGAAGCAAG -3'
(R):5'- CTGAGGAGCAGCATACACAGCTAAG -3'

Sequencing Primer
(F):5'- GGAAGCAAGCTTCTTCCTTCTG -3'
(R):5'- TTAGAGGAGCCTCTTCCACAAG -3'
Posted On 2013-11-07