|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: 0.066)|
|Stock #||R5140 (G1)|
|Chromosomal Location||100102007-100105626 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 100103502 bp|
|Amino Acid Change||Valine to Methionine at position 250 (V250M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000103039 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000107416]|
|Predicted Effect||probably damaging
AA Change: V250M
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: V250M
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1364|
|Coding Region Coverage||
|Validation Efficiency||98% (59/60)|
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'- TTCAGCTCCTCGGTCTACAGAG -3'
(R):5'- GCATGTTCAAAGAGGTCAGC -3'
(F):5'- CTCCTCGGTCTACAGAGAAGGAG -3'
(R):5'- AAGAGGTCAGCTCTTTTATCTCATGG -3'