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)
|
| Stock # |
IGL00803
|
| Quality Score |
|
|
Status
|
|
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 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 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
Incidental Mutation