Incidental Mutation 'IGL03286:Tchhl1'
ID 415720
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 # IGL03286
Quality Score
Status
Chromosome 3
Chromosomal Location 93376061-93379287 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 93378430 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 378 (A378V)
Ref Sequence ENSEMBL: ENSMUSP00000029516 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029516]
AlphaFold Q9D3P1
Predicted Effect probably benign
Transcript: ENSMUST00000029516
AA Change: A378V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000029516
Gene: ENSMUSG00000027908
AA Change: A378V

DomainStartEndE-ValueType
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 G A 1: 58,088,543 (GRCm39) G110S probably benign Het
Arhgap32 T C 9: 32,170,816 (GRCm39) S1548P probably benign Het
Cacna1s A G 1: 136,005,397 (GRCm39) D147G probably benign Het
Calcoco2 A G 11: 95,994,098 (GRCm39) V116A possibly damaging Het
Chd5 A T 4: 152,469,952 (GRCm39) M1842L probably benign Het
Comt T C 16: 18,230,490 (GRCm39) D73G probably damaging Het
Ctnna1 A G 18: 35,308,206 (GRCm39) I175M probably benign Het
Dnah6 A T 6: 73,060,068 (GRCm39) Y2839N probably damaging Het
Dph7 T A 2: 24,856,628 (GRCm39) H193Q probably damaging Het
Eif2b5 A G 16: 20,321,012 (GRCm39) D258G probably damaging Het
Eml5 T C 12: 98,826,762 (GRCm39) D630G probably damaging Het
Ext2 C T 2: 93,537,617 (GRCm39) V590M probably damaging Het
Fchsd2 T C 7: 100,908,982 (GRCm39) probably null Het
Gm13272 A G 4: 88,698,586 (GRCm39) Q167R probably benign Het
Gm21834 A G 17: 58,048,922 (GRCm39) V98A possibly damaging Het
Grid1 T A 14: 35,242,642 (GRCm39) probably benign Het
H2-DMa T A 17: 34,356,083 (GRCm39) probably null Het
Ighv5-17 T G 12: 113,822,797 (GRCm39) E108A possibly damaging Het
Invs A G 4: 48,382,261 (GRCm39) T144A probably benign Het
Ipo9 A G 1: 135,334,816 (GRCm39) probably benign Het
Itga4 A T 2: 79,119,706 (GRCm39) Y504F probably damaging Het
Krt5 A G 15: 101,615,983 (GRCm39) F544S unknown Het
Larp4 A G 15: 99,883,967 (GRCm39) Y67C probably damaging Het
Msh2 T C 17: 87,990,095 (GRCm39) M261T possibly damaging Het
Nav1 A T 1: 135,382,274 (GRCm39) C1367S probably benign Het
Nox4 T A 7: 87,019,349 (GRCm39) probably benign Het
Noxa1 A G 2: 24,975,732 (GRCm39) probably null Het
Or5b98 A C 19: 12,931,532 (GRCm39) Y193S probably benign Het
Or6p1 A C 1: 174,258,743 (GRCm39) I250L probably benign Het
Pde4d T A 13: 110,091,040 (GRCm39) probably benign Het
Pdlim2 C T 14: 70,411,925 (GRCm39) G36S possibly damaging Het
Plekhm2 A G 4: 141,361,658 (GRCm39) S262P possibly damaging Het
Pnpla6 C A 8: 3,581,473 (GRCm39) T582K probably damaging Het
Rap1b A T 10: 117,654,480 (GRCm39) L120* probably null Het
Rft1 C T 14: 30,383,323 (GRCm39) T121I probably benign Het
Scn1a A G 2: 66,107,920 (GRCm39) I1613T probably damaging Het
Slc47a2 T G 11: 61,233,293 (GRCm39) E79A possibly damaging Het
Slc9a4 A G 1: 40,619,928 (GRCm39) I85V probably null Het
Slfn8 A T 11: 82,904,294 (GRCm39) F365L probably damaging Het
Smcr8 T A 11: 60,668,853 (GRCm39) probably benign Het
Sntb1 T C 15: 55,655,442 (GRCm39) D258G possibly damaging Het
Sorbs1 A G 19: 40,332,858 (GRCm39) I520T probably damaging Het
Sptbn2 T C 19: 4,797,860 (GRCm39) S1896P probably damaging Het
Sptlc3 G A 2: 139,431,579 (GRCm39) G367D probably damaging Het
Stab1 C T 14: 30,881,283 (GRCm39) probably benign Het
Tars2 T C 3: 95,662,067 (GRCm39) probably benign Het
Tet3 A T 6: 83,352,760 (GRCm39) F1012Y probably damaging Het
Tuba8 A G 6: 121,199,913 (GRCm39) D199G possibly damaging Het
Vmn2r110 T A 17: 20,804,468 (GRCm39) T151S possibly damaging Het
Xirp2 T C 2: 67,346,654 (GRCm39) I2965T probably damaging Het
Zfp688 T A 7: 127,018,703 (GRCm39) M141L probably benign Het
Other mutations in Tchhl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00540:Tchhl1 APN 3 93,378,230 (GRCm39) missense probably benign 0.00
IGL00803:Tchhl1 APN 3 93,378,207 (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
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 2016-08-02