Incidental Mutation 'IGL01814:Tchhl1'
ID |
154359 |
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 # |
IGL01814
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
93376061-93379287 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 93377656 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 120
(V120A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029516
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029516]
|
AlphaFold |
Q9D3P1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029516
AA Change: V120A
PolyPhen 2
Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000029516 Gene: ENSMUSG00000027908 AA Change: V120A
Domain | Start | End | E-Value | Type |
Pfam:S_100
|
4 |
47 |
1.2e-15 |
PFAM |
low complexity region
|
111 |
124 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195137
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg3l2 |
T |
A |
18: 67,538,544 (GRCm39) |
N738I |
probably benign |
Het |
B3galnt2 |
A |
G |
13: 14,161,938 (GRCm39) |
S1G |
probably damaging |
Het |
Btbd9 |
T |
C |
17: 30,518,509 (GRCm39) |
I484V |
probably benign |
Het |
Chd6 |
T |
C |
2: 160,901,849 (GRCm39) |
K8R |
probably benign |
Het |
Csmd1 |
A |
C |
8: 16,551,389 (GRCm39) |
L279R |
probably damaging |
Het |
Dmxl1 |
G |
T |
18: 49,997,935 (GRCm39) |
V708F |
probably damaging |
Het |
Dnajc24 |
C |
T |
2: 105,811,429 (GRCm39) |
G49R |
probably benign |
Het |
Dnhd1 |
T |
C |
7: 105,301,237 (GRCm39) |
M198T |
probably benign |
Het |
Dtx3l |
T |
A |
16: 35,751,872 (GRCm39) |
D683V |
probably benign |
Het |
Duox1 |
A |
G |
2: 122,176,753 (GRCm39) |
T1425A |
probably damaging |
Het |
Enpp3 |
G |
A |
10: 24,667,923 (GRCm39) |
P510S |
possibly damaging |
Het |
Iars2 |
G |
T |
1: 185,034,972 (GRCm39) |
Y590* |
probably null |
Het |
Itgb7 |
T |
C |
15: 102,131,852 (GRCm39) |
R244G |
possibly damaging |
Het |
Itpr2 |
T |
A |
6: 146,134,044 (GRCm39) |
R1820S |
probably benign |
Het |
Matn3 |
T |
C |
12: 9,002,091 (GRCm39) |
V101A |
probably damaging |
Het |
Neurod1 |
C |
T |
2: 79,285,003 (GRCm39) |
V127M |
probably damaging |
Het |
Or56a5 |
T |
C |
7: 104,792,811 (GRCm39) |
I236V |
possibly damaging |
Het |
Or9i1b |
T |
A |
19: 13,896,892 (GRCm39) |
C169* |
probably null |
Het |
Pde10a |
A |
G |
17: 9,147,939 (GRCm39) |
M1V |
probably null |
Het |
Pdk4 |
A |
G |
6: 5,491,828 (GRCm39) |
|
probably null |
Het |
Ptchd4 |
A |
T |
17: 42,814,177 (GRCm39) |
I693F |
possibly damaging |
Het |
Scml4 |
C |
T |
10: 42,811,041 (GRCm39) |
R194C |
probably damaging |
Het |
Slc24a4 |
T |
C |
12: 102,220,877 (GRCm39) |
V436A |
probably benign |
Het |
Slc9a3 |
C |
A |
13: 74,314,091 (GRCm39) |
R800S |
probably damaging |
Het |
Smchd1 |
C |
A |
17: 71,685,182 (GRCm39) |
M1415I |
probably benign |
Het |
Syndig1 |
T |
A |
2: 149,741,690 (GRCm39) |
I92N |
probably damaging |
Het |
Thumpd3 |
C |
T |
6: 113,040,112 (GRCm39) |
T332I |
possibly damaging |
Het |
Tmem101 |
G |
A |
11: 102,044,284 (GRCm39) |
T201M |
possibly damaging |
Het |
Trip11 |
T |
C |
12: 101,850,747 (GRCm39) |
T1106A |
probably damaging |
Het |
Ttc41 |
C |
T |
10: 86,566,890 (GRCm39) |
R519C |
probably damaging |
Het |
Xirp1 |
T |
A |
9: 119,846,985 (GRCm39) |
M633L |
probably damaging |
Het |
Zfp938 |
A |
T |
10: 82,062,052 (GRCm39) |
D189E |
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 |
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 |
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 |
2014-02-04 |