Incidental Mutation 'R6592:Tchhl1'
| ID |
524624 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tchhl1
|
| Ensembl Gene |
ENSMUSG00000027908 |
| Gene Name |
trichohyalin-like 1 |
| Synonyms |
S100a17, Thhl1 |
| MMRRC Submission |
044716-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6592 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
93376061-93379287 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 93378116 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 273
(D273E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029516
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029516]
|
| AlphaFold |
Q9D3P1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029516
AA Change: D273E
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000029516
Gene: ENSMUSG00000027908
AA Change: D273E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:S_100
|
4 |
47 |
1.2e-15 |
PFAM |
|
low complexity region
|
111 |
124 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
94% (31/33) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss3 |
A |
G |
10: 106,859,579 (GRCm39) |
V340A |
possibly damaging |
Het |
| Btbd17 |
T |
C |
11: 114,682,302 (GRCm39) |
Y470C |
probably damaging |
Het |
| Clca3a1 |
G |
C |
3: 144,719,644 (GRCm39) |
A442G |
probably damaging |
Het |
| Cyp4v3 |
A |
T |
8: 45,760,018 (GRCm39) |
N511K |
probably benign |
Het |
| Efcab5 |
G |
T |
11: 77,004,436 (GRCm39) |
Q1097K |
possibly damaging |
Het |
| Epha7 |
T |
C |
4: 28,813,482 (GRCm39) |
|
probably null |
Het |
| Exoc6 |
A |
G |
19: 37,560,360 (GRCm39) |
T126A |
probably benign |
Het |
| Fnip2 |
T |
C |
3: 79,389,015 (GRCm39) |
Q572R |
probably benign |
Het |
| Gm17430 |
C |
T |
18: 9,726,514 (GRCm39) |
V53I |
probably benign |
Het |
| Gpr149 |
T |
C |
3: 62,437,961 (GRCm39) |
D732G |
probably benign |
Het |
| Hdlbp |
A |
G |
1: 93,340,083 (GRCm39) |
|
probably null |
Het |
| Herc2 |
A |
G |
7: 55,857,438 (GRCm39) |
|
probably null |
Het |
| Htt |
C |
T |
5: 35,034,388 (GRCm39) |
T1953I |
possibly damaging |
Het |
| Lgmn |
C |
T |
12: 102,370,529 (GRCm39) |
V134I |
probably damaging |
Het |
| Lhfpl7 |
A |
G |
5: 113,382,329 (GRCm39) |
Y34C |
probably damaging |
Het |
| Lysmd1 |
A |
G |
3: 95,045,197 (GRCm39) |
S148G |
probably benign |
Het |
| Man2a2 |
T |
C |
7: 80,002,947 (GRCm39) |
D1054G |
probably damaging |
Het |
| Mcph1 |
A |
G |
8: 18,718,983 (GRCm39) |
T640A |
probably damaging |
Het |
| Nat10 |
T |
C |
2: 103,584,495 (GRCm39) |
E94G |
probably null |
Het |
| Or4a67 |
G |
A |
2: 88,598,471 (GRCm39) |
H63Y |
probably damaging |
Het |
| Or5v1 |
T |
A |
17: 37,809,988 (GRCm39) |
W149R |
probably damaging |
Het |
| Pgm3 |
A |
G |
9: 86,441,496 (GRCm39) |
V367A |
possibly damaging |
Het |
| Ppp1r1a |
A |
C |
15: 103,439,799 (GRCm39) |
D164E |
probably damaging |
Het |
| Proca1 |
G |
T |
11: 78,095,779 (GRCm39) |
S137I |
probably benign |
Het |
| Serinc5 |
T |
C |
13: 92,844,634 (GRCm39) |
F459L |
possibly damaging |
Het |
| Slc12a8 |
T |
C |
16: 33,437,626 (GRCm39) |
|
probably null |
Het |
| Slc51a |
T |
C |
16: 32,294,621 (GRCm39) |
D321G |
probably damaging |
Het |
| Tlk1 |
G |
A |
2: 70,544,497 (GRCm39) |
R713C |
probably damaging |
Het |
| Tpr |
T |
C |
1: 150,287,656 (GRCm39) |
I465T |
possibly damaging |
Het |
| Usp1 |
A |
G |
4: 98,814,756 (GRCm39) |
I5M |
possibly damaging |
Het |
| Zcchc14 |
T |
C |
8: 122,331,378 (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 |
|
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 |
|
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'- AGATGCTCAGGAAGTCGCAC -3'
(R):5'- TTTCTTGTGCTGGCAATCCG -3'
Sequencing Primer
(F):5'- CCAGCAACTGAATATGATGGAGTCC -3'
(R):5'- GCAATCCGTGGCTCTCAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation