Incidental Mutation 'IGL03286:Tchhl1'
ID415720
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tchhl1
Ensembl Gene ENSMUSG00000027908
Gene Nametrichohyalin-like 1
SynonymsThhl1, S100a17
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03286
Quality Score
Status
Chromosome3
Chromosomal Location93468754-93471980 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 93471123 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 378 (A378V)
Ref Sequence ENSEMBL: ENSMUSP00000029516 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029516]
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: 58,049,384 G110S probably benign Het
Arhgap32 T C 9: 32,259,520 S1548P probably benign Het
Cacna1s A G 1: 136,077,659 D147G probably benign Het
Calcoco2 A G 11: 96,103,272 V116A possibly damaging Het
Chd5 A T 4: 152,385,495 M1842L probably benign Het
Comt T C 16: 18,411,740 D73G probably damaging Het
Ctnna1 A G 18: 35,175,153 I175M probably benign Het
Dnah6 A T 6: 73,083,085 Y2839N probably damaging Het
Dph7 T A 2: 24,966,616 H193Q probably damaging Het
Eif2b5 A G 16: 20,502,262 D258G probably damaging Het
Eml5 T C 12: 98,860,503 D630G probably damaging Het
Ext2 C T 2: 93,707,272 V590M probably damaging Het
Fchsd2 T C 7: 101,259,775 probably null Het
Gm13272 A G 4: 88,780,349 Q167R probably benign Het
Gm21834 A G 17: 57,741,927 V98A possibly damaging Het
Grid1 T A 14: 35,520,685 probably benign Het
H2-DMa T A 17: 34,137,109 probably null Het
Ighv5-17 T G 12: 113,859,177 E108A possibly damaging Het
Invs A G 4: 48,382,261 T144A probably benign Het
Ipo9 A G 1: 135,407,078 probably benign Het
Itga4 A T 2: 79,289,362 Y504F probably damaging Het
Krt5 A G 15: 101,707,548 F544S unknown Het
Larp4 A G 15: 99,986,086 Y67C probably damaging Het
Msh2 T C 17: 87,682,667 M261T possibly damaging Het
Nav1 A T 1: 135,454,536 C1367S probably benign Het
Nox4 T A 7: 87,370,141 probably benign Het
Noxa1 A G 2: 25,085,720 probably null Het
Olfr1450 A C 19: 12,954,168 Y193S probably benign Het
Olfr414 A C 1: 174,431,177 I250L probably benign Het
Pde4d T A 13: 109,954,506 probably benign Het
Pdlim2 C T 14: 70,174,476 G36S possibly damaging Het
Plekhm2 A G 4: 141,634,347 S262P possibly damaging Het
Pnpla6 C A 8: 3,531,473 T582K probably damaging Het
Rap1b A T 10: 117,818,575 L120* probably null Het
Rft1 C T 14: 30,661,366 T121I probably benign Het
Scn1a A G 2: 66,277,576 I1613T probably damaging Het
Slc47a2 T G 11: 61,342,467 E79A possibly damaging Het
Slc9a4 A G 1: 40,580,768 I85V probably null Het
Slfn8 A T 11: 83,013,468 F365L probably damaging Het
Smcr8 T A 11: 60,778,027 probably benign Het
Sntb1 T C 15: 55,792,046 D258G possibly damaging Het
Sorbs1 A G 19: 40,344,414 I520T probably damaging Het
Sptbn2 T C 19: 4,747,832 S1896P probably damaging Het
Sptlc3 G A 2: 139,589,659 G367D probably damaging Het
Stab1 C T 14: 31,159,326 probably benign Het
Tars2 T C 3: 95,754,755 probably benign Het
Tet3 A T 6: 83,375,778 F1012Y probably damaging Het
Tuba8 A G 6: 121,222,954 D199G possibly damaging Het
Vmn2r110 T A 17: 20,584,206 T151S possibly damaging Het
Xirp2 T C 2: 67,516,310 I2965T probably damaging Het
Zfp688 T A 7: 127,419,531 M141L probably benign Het
Other mutations in Tchhl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00540:Tchhl1 APN 3 93470923 missense probably benign 0.00
IGL00803:Tchhl1 APN 3 93470900 missense probably benign 0.00
IGL01075:Tchhl1 APN 3 93470316 missense probably damaging 1.00
IGL01814:Tchhl1 APN 3 93470349 missense possibly damaging 0.53
IGL02026:Tchhl1 APN 3 93470555 missense probably damaging 0.99
IGL02407:Tchhl1 APN 3 93471327 missense possibly damaging 0.95
IGL03293:Tchhl1 APN 3 93470275 missense probably damaging 1.00
Reef UTSW 3 93471029 nonsense probably null
R0371:Tchhl1 UTSW 3 93469577 missense probably damaging 1.00
R0403:Tchhl1 UTSW 3 93471029 nonsense probably null
R0763:Tchhl1 UTSW 3 93471571 missense probably benign 0.05
R1052:Tchhl1 UTSW 3 93470213 missense probably benign 0.32
R1848:Tchhl1 UTSW 3 93471101 missense probably damaging 1.00
R4917:Tchhl1 UTSW 3 93470316 missense possibly damaging 0.52
R4918:Tchhl1 UTSW 3 93470316 missense possibly damaging 0.52
R4945:Tchhl1 UTSW 3 93471576 missense probably benign 0.00
R5251:Tchhl1 UTSW 3 93470553 missense possibly damaging 0.70
R5260:Tchhl1 UTSW 3 93470795 missense probably damaging 1.00
R5398:Tchhl1 UTSW 3 93471603 missense probably benign 0.01
R5759:Tchhl1 UTSW 3 93471556 missense probably damaging 1.00
R5760:Tchhl1 UTSW 3 93471556 missense probably damaging 1.00
R5872:Tchhl1 UTSW 3 93470529 missense probably benign 0.31
R6592:Tchhl1 UTSW 3 93470809 missense probably damaging 0.99
R7464:Tchhl1 UTSW 3 93470664 missense probably benign 0.01
R7653:Tchhl1 UTSW 3 93471144 missense probably benign 0.01
Posted On2016-08-02