Incidental Mutation 'R5251:Tchhl1'
| ID |
399017 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tchhl1
|
| Ensembl Gene |
ENSMUSG00000027908 |
| Gene Name |
trichohyalin-like 1 |
| Synonyms |
S100a17, Thhl1 |
| MMRRC Submission |
042822-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5251 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
93376061-93379287 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 93377860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 188
(V188A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029516
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029516]
|
| AlphaFold |
Q9D3P1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029516
AA Change: V188A
PolyPhen 2
Score 0.701 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000029516
Gene: ENSMUSG00000027908
AA Change: V188A
| 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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.9%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1 |
A |
T |
5: 36,108,236 (GRCm39) |
E194V |
probably damaging |
Het |
| Ankrd16 |
T |
A |
2: 11,783,552 (GRCm39) |
D51E |
probably damaging |
Het |
| Arhgef5 |
A |
G |
6: 43,249,815 (GRCm39) |
T189A |
possibly damaging |
Het |
| Camk4 |
A |
G |
18: 33,317,932 (GRCm39) |
D363G |
probably benign |
Het |
| Camta1 |
A |
G |
4: 151,248,341 (GRCm39) |
I199T |
probably damaging |
Het |
| Ccdc141 |
C |
T |
2: 76,858,118 (GRCm39) |
C1021Y |
probably damaging |
Het |
| Cdc34 |
C |
T |
10: 79,521,090 (GRCm39) |
S129L |
probably damaging |
Het |
| Cenph |
T |
A |
13: 100,898,348 (GRCm39) |
N185I |
possibly damaging |
Het |
| Colq |
A |
G |
14: 31,261,776 (GRCm39) |
|
probably null |
Het |
| Dph2 |
A |
T |
4: 117,747,543 (GRCm39) |
D280E |
probably damaging |
Het |
| Exosc5 |
A |
G |
7: 25,367,180 (GRCm39) |
Y224C |
probably damaging |
Het |
| Fgfr3 |
C |
T |
5: 33,892,900 (GRCm39) |
|
probably benign |
Het |
| Hs3st6 |
T |
A |
17: 24,976,959 (GRCm39) |
D146E |
probably benign |
Het |
| Igkv13-84 |
A |
T |
6: 68,916,772 (GRCm39) |
Q23L |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,343,760 (GRCm39) |
V2154A |
probably benign |
Het |
| Man1a2 |
T |
C |
3: 100,527,415 (GRCm39) |
E225G |
probably damaging |
Het |
| Mertk |
T |
C |
2: 128,571,375 (GRCm39) |
S110P |
probably damaging |
Het |
| Nav3 |
A |
G |
10: 109,689,114 (GRCm39) |
F388L |
probably damaging |
Het |
| Nme8 |
T |
C |
13: 19,844,795 (GRCm39) |
N98S |
probably benign |
Het |
| Nup205 |
A |
G |
6: 35,173,417 (GRCm39) |
|
probably null |
Het |
| Prl7d1 |
T |
C |
13: 27,893,227 (GRCm39) |
N228S |
probably benign |
Het |
| Prss23 |
T |
C |
7: 89,159,530 (GRCm39) |
K180E |
probably damaging |
Het |
| Psap |
G |
A |
10: 60,137,479 (GRCm39) |
D549N |
probably damaging |
Het |
| Sec16a |
A |
G |
2: 26,329,357 (GRCm39) |
V886A |
probably benign |
Het |
| Sh2d1b2 |
A |
T |
1: 170,077,642 (GRCm39) |
E81D |
probably benign |
Het |
| Tbx6 |
A |
T |
7: 126,382,516 (GRCm39) |
N254I |
probably damaging |
Het |
| Trpc3 |
A |
T |
3: 36,725,103 (GRCm39) |
L291Q |
probably damaging |
Het |
| Zbtb38 |
G |
T |
9: 96,569,161 (GRCm39) |
T641N |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGTGGAAACATTCAGCAGG -3'
(R):5'- GTTGGCCTCTGAATCATATGGTC -3'
Sequencing Primer
(F):5'- CAAGAAAGGCTCATATTTCCATCAG -3'
(R):5'- ATATGGTCACTTATCTTGGTGTCAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation