|Institutional Source||Beutler Lab|
|Gene Name||trichohyalin-like 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0371 (G1)|
|Chromosomal Location||93468754-93471980 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 93469577 bp|
|Amino Acid Change||Alanine to Glutamic Acid at position 27 (A27E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029516 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029516]|
|Predicted Effect||probably damaging
AA Change: A27E
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: A27E
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1965|
|Coding Region Coverage||
|Validation Efficiency||99% (67/68)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the S100 fused-type protein (SFTP) gene family, and is located in a cluster of SFTP genes on chromosome 1q21. Several members of this family have been implicated in the development of complex skin disorders. This gene is evolutionarily conserved; its expression appears to be hair-specific and spatially restricted within the distal inner root sheath of the hair follicle. It thus may have an important role in hair morphogenesis. [provided by RefSeq, Aug 2013]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tchhl1||
(F):5'- TGAGTGTTCCCACAACACATGAGTG -3'
(R):5'- AGAGGTCTGCCTTGATGAAGCAAC -3'
(F):5'- CACATGAGTGTTGCTGTTTATCAC -3'
(R):5'- GCAACAGTTGCATAATGGTAACC -3'