Incidental Mutation 'IGL00540:Tchhl1'
| ID |
6825 |
| 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 # |
IGL00540
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
93376061-93379287 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93378230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 311
(I311M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029516
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029516]
|
| AlphaFold |
Q9D3P1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029516
AA Change: I311M
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000029516
Gene: ENSMUSG00000027908
AA Change: I311M
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amph |
G |
T |
13: 19,304,776 (GRCm39) |
G398V |
probably damaging |
Het |
| C2cd3 |
T |
G |
7: 100,040,335 (GRCm39) |
S301R |
probably benign |
Het |
| Calr |
G |
A |
8: 85,571,373 (GRCm39) |
P178S |
possibly damaging |
Het |
| Cbll1 |
G |
T |
12: 31,537,940 (GRCm39) |
P271T |
probably damaging |
Het |
| Ccl7 |
A |
T |
11: 81,937,888 (GRCm39) |
D89V |
probably damaging |
Het |
| Cd82 |
T |
A |
2: 93,251,004 (GRCm39) |
I179F |
probably null |
Het |
| Cdh10 |
A |
T |
15: 18,964,081 (GRCm39) |
D81V |
probably damaging |
Het |
| Cenpo |
A |
G |
12: 4,266,685 (GRCm39) |
V141A |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 118,150,657 (GRCm39) |
V367A |
probably benign |
Het |
| Fam161b |
T |
C |
12: 84,408,525 (GRCm39) |
|
probably benign |
Het |
| Gemin5 |
G |
A |
11: 58,051,644 (GRCm39) |
P268S |
probably damaging |
Het |
| Gm5965 |
T |
A |
16: 88,575,228 (GRCm39) |
C134S |
probably damaging |
Het |
| Icam4 |
C |
A |
9: 20,941,382 (GRCm39) |
R174S |
possibly damaging |
Het |
| Kdm5a |
T |
A |
6: 120,362,680 (GRCm39) |
|
probably null |
Het |
| Klhl10 |
A |
G |
11: 100,336,244 (GRCm39) |
K77R |
probably benign |
Het |
| Mrgprb1 |
A |
T |
7: 48,097,291 (GRCm39) |
V207E |
probably damaging |
Het |
| Myh10 |
A |
G |
11: 68,681,534 (GRCm39) |
N1067S |
probably benign |
Het |
| Myo1b |
T |
C |
1: 51,803,113 (GRCm39) |
E856G |
possibly damaging |
Het |
| Nbea |
T |
C |
3: 55,535,914 (GRCm39) |
Y2890C |
probably damaging |
Het |
| Pcdhb16 |
T |
C |
18: 37,612,851 (GRCm39) |
S604P |
probably damaging |
Het |
| Pelp1 |
A |
T |
11: 70,285,638 (GRCm39) |
D743E |
possibly damaging |
Het |
| Pisd |
T |
C |
5: 32,895,756 (GRCm39) |
I441V |
probably benign |
Het |
| Rab25 |
A |
G |
3: 88,452,546 (GRCm39) |
S21P |
probably damaging |
Het |
| Spata31e2 |
A |
G |
1: 26,724,058 (GRCm39) |
I374T |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,475,147 (GRCm39) |
|
probably benign |
Het |
| Ssr1 |
T |
C |
13: 38,167,407 (GRCm39) |
D252G |
probably damaging |
Het |
| Stx1b |
T |
C |
7: 127,409,870 (GRCm39) |
E19G |
probably damaging |
Het |
| Tbc1d23 |
T |
A |
16: 56,992,139 (GRCm39) |
E607V |
probably damaging |
Het |
| Trpm6 |
C |
T |
19: 18,761,272 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tchhl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation