Incidental Mutation 'IGL00803:Tchhl1'
ID 14407
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tchhl1
Ensembl Gene ENSMUSG00000027908
Gene Name trichohyalin-like 1
Synonyms S100a17, Thhl1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00803
Quality Score
Chromosome 3
Chromosomal Location 93376061-93379287 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93378207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 304 (T304A)
Ref Sequence ENSEMBL: ENSMUSP00000029516 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029516]
AlphaFold Q9D3P1
Predicted Effect probably benign
Transcript: ENSMUST00000029516
AA Change: T304A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000029516
Gene: ENSMUSG00000027908
AA Change: T304A

Pfam:S_100 4 47 1.2e-15 PFAM
low complexity region 111 124 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
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
Total: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcorl1 C A X: 47,458,429 (GRCm39) T654K probably damaging Het
Cwf19l2 T A 9: 3,430,810 (GRCm39) S381T probably benign Het
Cyp3a25 A T 5: 145,938,253 (GRCm39) probably benign Het
Derl2 A T 11: 70,904,280 (GRCm39) V171E probably benign Het
Dst G A 1: 34,203,205 (GRCm39) V379I possibly damaging Het
Obp1a A C X: 77,134,332 (GRCm39) M57R probably damaging Het
Poln G T 5: 34,280,104 (GRCm39) L253I probably benign Het
Ryr1 T A 7: 28,769,070 (GRCm39) Q2773L possibly damaging Het
Slc30a3 A G 5: 31,245,388 (GRCm39) S311P probably damaging Het
Srl G T 16: 4,301,084 (GRCm39) F662L probably null Het
Usp24 T C 4: 106,242,723 (GRCm39) probably benign Het
Other mutations in Tchhl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00540:Tchhl1 APN 3 93,378,230 (GRCm39) missense probably benign 0.00
IGL01075:Tchhl1 APN 3 93,377,623 (GRCm39) missense probably damaging 1.00
IGL01814:Tchhl1 APN 3 93,377,656 (GRCm39) missense possibly damaging 0.53
IGL02026:Tchhl1 APN 3 93,377,862 (GRCm39) missense probably damaging 0.99
IGL02407:Tchhl1 APN 3 93,378,634 (GRCm39) missense possibly damaging 0.95
IGL03286:Tchhl1 APN 3 93,378,430 (GRCm39) missense probably benign 0.00
IGL03293:Tchhl1 APN 3 93,377,582 (GRCm39) missense probably damaging 1.00
Reef UTSW 3 93,378,336 (GRCm39) nonsense probably null
R0371:Tchhl1 UTSW 3 93,376,884 (GRCm39) missense probably damaging 1.00
R0403:Tchhl1 UTSW 3 93,378,336 (GRCm39) nonsense probably null
R0763:Tchhl1 UTSW 3 93,378,878 (GRCm39) missense probably benign 0.05
R1052:Tchhl1 UTSW 3 93,377,520 (GRCm39) missense probably benign 0.32
R1848:Tchhl1 UTSW 3 93,378,408 (GRCm39) missense probably damaging 1.00
R4917:Tchhl1 UTSW 3 93,377,623 (GRCm39) missense possibly damaging 0.52
R4918:Tchhl1 UTSW 3 93,377,623 (GRCm39) missense possibly damaging 0.52
R4945:Tchhl1 UTSW 3 93,378,883 (GRCm39) missense probably benign 0.00
R5251:Tchhl1 UTSW 3 93,377,860 (GRCm39) missense possibly damaging 0.70
R5260:Tchhl1 UTSW 3 93,378,102 (GRCm39) missense probably damaging 1.00
R5398:Tchhl1 UTSW 3 93,378,910 (GRCm39) missense probably benign 0.01
R5759:Tchhl1 UTSW 3 93,378,863 (GRCm39) missense probably damaging 1.00
R5760:Tchhl1 UTSW 3 93,378,863 (GRCm39) missense probably damaging 1.00
R5872:Tchhl1 UTSW 3 93,377,836 (GRCm39) missense probably benign 0.31
R6592:Tchhl1 UTSW 3 93,378,116 (GRCm39) missense probably damaging 0.99
R7464:Tchhl1 UTSW 3 93,377,971 (GRCm39) missense probably benign 0.01
R7653:Tchhl1 UTSW 3 93,378,451 (GRCm39) missense probably benign 0.01
R7726:Tchhl1 UTSW 3 93,379,065 (GRCm39) missense probably benign 0.07
R8487:Tchhl1 UTSW 3 93,376,869 (GRCm39) missense probably damaging 1.00
R9207:Tchhl1 UTSW 3 93,377,819 (GRCm39) missense possibly damaging 0.94
RF018:Tchhl1 UTSW 3 93,377,691 (GRCm39) missense probably benign 0.01
Posted On 2012-12-06