|Institutional Source||Beutler Lab|
|Gene Name||keratin associated protein 3-1|
|Synonyms||KAP3.1, KRTAP3.1, 2310003K17Rik|
|Is this an essential gene?||Probably non essential (E-score: 0.146)|
|Stock #||R6465 (G1)|
|Chromosomal Location||99566027-99566630 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 99566451 bp|
|Amino Acid Change||Proline to Serine at position 45 (P45S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000053940 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000055502]|
|Predicted Effect||possibly damaging
AA Change: P45S
PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: P45S
|Meta Mutation Damage Score||0.1787|
|Coding Region Coverage||
|Validation Efficiency||95% (40/42)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Krtap3-1||
(F):5'- ACCTGGGAAGACTTGACTGC -3'
(R):5'- TTGACCATAGGTTGACGCCC -3'
(F):5'- CCTGGGAAGACTTGACTGCTTAAC -3'
(R):5'- GAGCATTCAGACATCAACTGACTTC -3'