Incidental Mutation 'IGL02544:Tmc1'
| ID |
297743 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmc1
|
| Ensembl Gene |
ENSMUSG00000024749 |
| Gene Name |
transmembrane channel-like gene family 1 |
| Synonyms |
Beethoven, Bth, 4933416G09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
IGL02544
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
20760822-20931566 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 20884327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 38
(T38S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039500]
|
| AlphaFold |
Q8R4P5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039500
AA Change: T38S
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000040859
Gene: ENSMUSG00000024749
AA Change: T38S
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1eq1a_
|
2 |
95 |
3e-3 |
SMART |
|
low complexity region
|
129 |
150 |
N/A |
INTRINSIC |
|
transmembrane domain
|
184 |
206 |
N/A |
INTRINSIC |
|
transmembrane domain
|
265 |
287 |
N/A |
INTRINSIC |
|
low complexity region
|
295 |
302 |
N/A |
INTRINSIC |
|
transmembrane domain
|
357 |
379 |
N/A |
INTRINSIC |
|
transmembrane domain
|
431 |
453 |
N/A |
INTRINSIC |
|
Pfam:TMC
|
512 |
627 |
2.6e-36 |
PFAM |
|
transmembrane domain
|
632 |
654 |
N/A |
INTRINSIC |
|
transmembrane domain
|
693 |
715 |
N/A |
INTRINSIC |
|
low complexity region
|
738 |
754 |
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 is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this gene is unknown; however, it is known to be required for normal function of cochlear hair cells. Mutations in this gene have been associated with progressive postlingual hearing loss and profound prelingual deafness. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutant mice are characterized by progressive degeneration of the cochlear inner hair cells and concomitant deafness. Different alleles causing progressive deafness or profound congenital deafness. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
C |
5: 77,049,961 (GRCm39) |
S12A |
probably benign |
Het |
| Abcb5 |
A |
T |
12: 118,870,003 (GRCm39) |
|
probably benign |
Het |
| Acap3 |
G |
A |
4: 155,976,867 (GRCm39) |
E6K |
possibly damaging |
Het |
| Ano3 |
A |
T |
2: 110,488,594 (GRCm39) |
I946K |
possibly damaging |
Het |
| Arid1a |
A |
G |
4: 133,409,059 (GRCm39) |
V1816A |
unknown |
Het |
| Cacna1c |
C |
T |
6: 118,728,440 (GRCm39) |
G335R |
probably damaging |
Het |
| Ccnh |
C |
A |
13: 85,350,460 (GRCm39) |
Y118* |
probably null |
Het |
| Cep76 |
C |
T |
18: 67,768,020 (GRCm39) |
|
probably benign |
Het |
| Cyp2c65 |
T |
C |
19: 39,079,082 (GRCm39) |
V387A |
probably damaging |
Het |
| Dapk1 |
T |
G |
13: 60,899,031 (GRCm39) |
S834A |
probably benign |
Het |
| Ddx39a |
T |
C |
8: 84,449,402 (GRCm39) |
S367P |
probably benign |
Het |
| Dicer1 |
A |
G |
12: 104,681,091 (GRCm39) |
I474T |
probably damaging |
Het |
| Dnah10 |
G |
A |
5: 124,876,069 (GRCm39) |
R2579H |
probably benign |
Het |
| Dnajc16 |
T |
C |
4: 141,491,958 (GRCm39) |
N622D |
probably damaging |
Het |
| Eif3c |
G |
T |
7: 126,146,784 (GRCm39) |
S799* |
probably null |
Het |
| Fbxo9 |
A |
G |
9: 77,994,541 (GRCm39) |
Y259H |
probably damaging |
Het |
| Fpr-rs4 |
A |
T |
17: 18,242,473 (GRCm39) |
H160L |
probably benign |
Het |
| Galc |
A |
T |
12: 98,197,701 (GRCm39) |
V336D |
probably benign |
Het |
| Matcap1 |
C |
T |
8: 106,010,092 (GRCm39) |
V286M |
probably benign |
Het |
| Mfrp |
T |
C |
9: 44,014,091 (GRCm39) |
L153P |
probably damaging |
Het |
| Mtx1 |
C |
A |
3: 89,117,703 (GRCm39) |
W30L |
probably damaging |
Het |
| Mysm1 |
A |
T |
4: 94,840,543 (GRCm39) |
D624E |
probably damaging |
Het |
| Naa16 |
A |
G |
14: 79,573,260 (GRCm39) |
F837L |
probably damaging |
Het |
| Or10ag56 |
C |
T |
2: 87,139,471 (GRCm39) |
R113C |
possibly damaging |
Het |
| Or1j17 |
A |
G |
2: 36,578,848 (GRCm39) |
Y278C |
probably damaging |
Het |
| Or2ag1 |
T |
C |
7: 106,313,742 (GRCm39) |
I49V |
probably benign |
Het |
| Or5h25 |
A |
T |
16: 58,930,507 (GRCm39) |
H155Q |
probably damaging |
Het |
| Pde4d |
G |
T |
13: 109,877,057 (GRCm39) |
D137Y |
probably damaging |
Het |
| Pik3r1 |
G |
T |
13: 101,823,784 (GRCm39) |
R534S |
probably damaging |
Het |
| Pira12 |
T |
A |
7: 3,900,185 (GRCm39) |
Y139F |
probably damaging |
Het |
| Plekha5 |
A |
C |
6: 140,535,454 (GRCm39) |
E239A |
possibly damaging |
Het |
| Psap |
G |
T |
10: 60,136,405 (GRCm39) |
|
probably benign |
Het |
| Rap2b |
T |
C |
3: 61,272,560 (GRCm39) |
F28S |
probably damaging |
Het |
| Rfc5 |
A |
T |
5: 117,524,931 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
C |
T |
7: 28,815,024 (GRCm39) |
D175N |
probably benign |
Het |
| Sbno1 |
T |
G |
5: 124,542,046 (GRCm39) |
I370L |
probably damaging |
Het |
| Slc17a6 |
T |
A |
7: 51,315,903 (GRCm39) |
C390* |
probably null |
Het |
| Srsf7 |
A |
T |
17: 80,511,620 (GRCm39) |
|
probably benign |
Het |
| Tbc1d10c |
C |
T |
19: 4,237,959 (GRCm39) |
D272N |
probably benign |
Het |
| Tll2 |
A |
G |
19: 41,124,404 (GRCm39) |
F204L |
probably damaging |
Het |
| Tmem184b |
A |
T |
15: 79,250,007 (GRCm39) |
I256K |
probably damaging |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Trip11 |
G |
A |
12: 101,859,780 (GRCm39) |
R365W |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,142,429 (GRCm39) |
P1339S |
probably damaging |
Het |
| Vmn2r83 |
T |
A |
10: 79,317,293 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tmc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01639:Tmc1
|
APN |
19 |
20,793,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02104:Tmc1
|
APN |
19 |
20,809,818 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02245:Tmc1
|
APN |
19 |
20,776,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02699:Tmc1
|
APN |
19 |
20,809,714 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02974:Tmc1
|
APN |
19 |
20,878,208 (GRCm39) |
missense |
probably benign |
|
|
IGL03194:Tmc1
|
APN |
19 |
20,782,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
dinner_bell
|
UTSW |
19 |
20,772,880 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0255:Tmc1
|
UTSW |
19 |
20,766,951 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0381:Tmc1
|
UTSW |
19 |
20,776,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0655:Tmc1
|
UTSW |
19 |
20,776,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1404:Tmc1
|
UTSW |
19 |
20,793,548 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1404:Tmc1
|
UTSW |
19 |
20,793,548 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1496:Tmc1
|
UTSW |
19 |
20,845,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1542:Tmc1
|
UTSW |
19 |
20,793,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1773:Tmc1
|
UTSW |
19 |
20,803,865 (GRCm39) |
splice site |
probably null |
|
|
R1777:Tmc1
|
UTSW |
19 |
20,793,473 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2067:Tmc1
|
UTSW |
19 |
20,801,673 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2152:Tmc1
|
UTSW |
19 |
20,834,039 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2180:Tmc1
|
UTSW |
19 |
20,801,448 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2204:Tmc1
|
UTSW |
19 |
20,918,269 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2205:Tmc1
|
UTSW |
19 |
20,918,269 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2285:Tmc1
|
UTSW |
19 |
20,767,163 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4505:Tmc1
|
UTSW |
19 |
20,845,738 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4752:Tmc1
|
UTSW |
19 |
20,804,013 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4975:Tmc1
|
UTSW |
19 |
20,884,319 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5040:Tmc1
|
UTSW |
19 |
20,801,394 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5206:Tmc1
|
UTSW |
19 |
20,804,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5400:Tmc1
|
UTSW |
19 |
20,781,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5429:Tmc1
|
UTSW |
19 |
20,766,986 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6200:Tmc1
|
UTSW |
19 |
20,766,954 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6784:Tmc1
|
UTSW |
19 |
20,805,015 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6796:Tmc1
|
UTSW |
19 |
20,776,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6808:Tmc1
|
UTSW |
19 |
20,772,880 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6812:Tmc1
|
UTSW |
19 |
20,878,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6834:Tmc1
|
UTSW |
19 |
20,772,974 (GRCm39) |
nonsense |
probably null |
|
|
R6978:Tmc1
|
UTSW |
19 |
20,781,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6986:Tmc1
|
UTSW |
19 |
20,801,647 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7027:Tmc1
|
UTSW |
19 |
20,918,267 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7378:Tmc1
|
UTSW |
19 |
20,845,753 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7520:Tmc1
|
UTSW |
19 |
20,776,542 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7573:Tmc1
|
UTSW |
19 |
20,884,372 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7825:Tmc1
|
UTSW |
19 |
20,782,009 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8024:Tmc1
|
UTSW |
19 |
20,878,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8073:Tmc1
|
UTSW |
19 |
20,845,725 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8786:Tmc1
|
UTSW |
19 |
20,803,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8791:Tmc1
|
UTSW |
19 |
20,767,209 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8969:Tmc1
|
UTSW |
19 |
20,793,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8973:Tmc1
|
UTSW |
19 |
20,878,215 (GRCm39) |
missense |
probably benign |
|
|
R9429:Tmc1
|
UTSW |
19 |
20,793,548 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9493:Tmc1
|
UTSW |
19 |
20,801,644 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Tmc1
|
UTSW |
19 |
20,803,870 (GRCm39) |
missense |
probably null |
1.00 |
|
Z1177:Tmc1
|
UTSW |
19 |
20,801,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tmc1
|
UTSW |
19 |
20,772,972 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
| Posted On |
2015-04-16 |
Incidental Mutation