|Institutional Source||Beutler Lab|
|Gene Name||keratin 36|
|Synonyms||Krt1-22, keratin 5, HRa-1, Krt1-5|
|Is this an essential gene?||Probably non essential (E-score: 0.064)|
|Stock #||R5719 (G1)|
|Chromosomal Location||100102007-100105626 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 100104161 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 195 (D195G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000103039 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000107416]|
|Predicted Effect||possibly damaging
AA Change: D195G
PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
AA Change: D195G
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.7342|
|Coding Region Coverage||
|Validation Efficiency||98% (79/81)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the keratin gene family. This type I hair keratin is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hyperkeratosis affecting the scales of the tail skin and the filiform papillae of the tongue. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Krt36||
(F):5'- AGGGATTCCTCAGTGGGATG -3'
(R):5'- CAAATCTGTGTCAAACCTTTGGG -3'
(F):5'- ATTCCTCAGTGGGATGGGAACC -3'
(R):5'- TCAAACCTTTGGGAGCTGATGAG -3'