|Institutional Source||Beutler Lab|
|Gene Name||basonuclin 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2243 (G1)|
|Chromosomal Location||81966672-81992292 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 81974073 bp|
|Amino Acid Change||Isoleucine to Valine at position 469 (I469V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026096 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026096]|
|Predicted Effect||possibly damaging
AA Change: I469V
PolyPhen 2 Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: I469V
|Meta Mutation Damage Score||0.0597|
|Coding Region Coverage||
|Validation Efficiency||100% (40/40)|
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||
|Other mutations in Bnc1||
(F):5'- TGTCTGTGGAAACCAGCTG -3'
(R):5'- AACATGGTGTTCAGCTCCCTG -3'
(F):5'- CTGTGGAAACCAGCTGTTCTG -3'
(R):5'- TCGCCTGCACATGCCAATG -3'