Incidental Mutation 'R8073:Tmc1'
ID |
620383 |
Institutional Source |
Beutler Lab
|
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 # |
R8073 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
20760822-20931566 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 20845725 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 166
(N166S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040859
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039500]
|
AlphaFold |
Q8R4P5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039500
AA Change: N166S
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000040859 Gene: ENSMUSG00000024749 AA Change: N166S
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ago1 |
C |
T |
4: 126,337,019 (GRCm39) |
V533I |
probably benign |
Het |
Akap3 |
A |
T |
6: 126,842,736 (GRCm39) |
T452S |
probably damaging |
Het |
Angpt1 |
C |
T |
15: 42,301,699 (GRCm39) |
M436I |
probably benign |
Het |
B3galt4 |
T |
C |
17: 34,169,797 (GRCm39) |
K147R |
probably damaging |
Het |
Birc6 |
C |
A |
17: 74,910,080 (GRCm39) |
T1491K |
probably damaging |
Het |
Boll |
T |
C |
1: 55,394,881 (GRCm39) |
|
probably benign |
Het |
C6 |
T |
C |
15: 4,764,675 (GRCm39) |
F124L |
probably benign |
Het |
Camta1 |
T |
C |
4: 151,163,281 (GRCm39) |
Y436C |
probably damaging |
Het |
Celsr1 |
T |
C |
15: 85,823,356 (GRCm39) |
N1684S |
probably benign |
Het |
Cflar |
T |
C |
1: 58,791,981 (GRCm39) |
L428P |
|
Het |
Clk4 |
T |
C |
11: 51,168,716 (GRCm39) |
I363T |
probably benign |
Het |
Cnst |
A |
G |
1: 179,434,002 (GRCm39) |
T273A |
probably benign |
Het |
Col5a1 |
C |
T |
2: 27,852,141 (GRCm39) |
A546V |
possibly damaging |
Het |
Col6a6 |
T |
A |
9: 105,659,146 (GRCm39) |
N600Y |
probably benign |
Het |
Cxadr |
A |
G |
16: 78,130,301 (GRCm39) |
N156S |
probably benign |
Het |
Diaph1 |
C |
T |
18: 38,024,850 (GRCm39) |
G537E |
unknown |
Het |
Dmxl1 |
T |
A |
18: 50,011,500 (GRCm39) |
V1219D |
probably damaging |
Het |
Dnajb12 |
T |
A |
10: 59,726,001 (GRCm39) |
Y95* |
probably null |
Het |
Dnajc5g |
A |
G |
5: 31,269,029 (GRCm39) |
T137A |
probably benign |
Het |
Dpy19l3 |
G |
A |
7: 35,429,173 (GRCm39) |
T89M |
probably damaging |
Het |
Dusp19 |
C |
A |
2: 80,447,828 (GRCm39) |
T34N |
probably benign |
Het |
Eln |
CTCCAGCTCCGAT |
C |
5: 134,758,003 (GRCm39) |
|
probably benign |
Het |
Enpp1 |
A |
G |
10: 24,555,142 (GRCm39) |
V68A |
possibly damaging |
Het |
Epha7 |
T |
A |
4: 28,821,022 (GRCm39) |
D62E |
probably damaging |
Het |
Frmd4b |
A |
T |
6: 97,283,674 (GRCm39) |
V445E |
probably benign |
Het |
Gp9 |
A |
C |
6: 87,756,336 (GRCm39) |
D117A |
probably benign |
Het |
Haao |
T |
C |
17: 84,142,649 (GRCm39) |
E152G |
possibly damaging |
Het |
Ift70a2 |
A |
G |
2: 75,806,997 (GRCm39) |
V505A |
probably damaging |
Het |
Ighd |
A |
G |
12: 113,379,789 (GRCm39) |
S52P |
probably benign |
Het |
Ikzf3 |
T |
C |
11: 98,358,255 (GRCm39) |
K361E |
probably benign |
Het |
Lgi2 |
T |
A |
5: 52,704,013 (GRCm39) |
E206V |
probably benign |
Het |
Mfsd11 |
T |
A |
11: 116,754,749 (GRCm39) |
V220E |
probably benign |
Het |
Moxd1 |
G |
T |
10: 24,128,848 (GRCm39) |
G200C |
probably damaging |
Het |
Mthfd1l |
C |
A |
10: 3,923,417 (GRCm39) |
Q55K |
probably benign |
Het |
Nlrp9a |
T |
A |
7: 26,260,260 (GRCm39) |
L672M |
probably damaging |
Het |
Npvf |
A |
C |
6: 50,631,349 (GRCm39) |
F9V |
probably damaging |
Het |
Nup205 |
G |
T |
6: 35,179,104 (GRCm39) |
|
probably null |
Het |
Nup43 |
T |
C |
10: 7,546,713 (GRCm39) |
V111A |
probably benign |
Het |
Obscn |
C |
T |
11: 59,026,516 (GRCm39) |
R229H |
probably benign |
Het |
Olfml2a |
C |
A |
2: 38,847,766 (GRCm39) |
R442S |
probably damaging |
Het |
Or10j2 |
A |
G |
1: 173,098,552 (GRCm39) |
D270G |
probably benign |
Het |
Or2ag16 |
C |
A |
7: 106,352,008 (GRCm39) |
E196* |
probably null |
Het |
Or4c120 |
T |
A |
2: 89,001,284 (GRCm39) |
I91F |
probably damaging |
Het |
Or5b12b |
T |
A |
19: 12,861,980 (GRCm39) |
V245E |
probably benign |
Het |
Or9s13 |
T |
A |
1: 92,547,806 (GRCm39) |
D59E |
probably damaging |
Het |
Pcdhga7 |
T |
C |
18: 37,848,398 (GRCm39) |
F135S |
probably damaging |
Het |
Pde4a |
A |
T |
9: 21,122,065 (GRCm39) |
I654F |
probably damaging |
Het |
Pip5kl1 |
G |
A |
2: 32,473,440 (GRCm39) |
R359Q |
possibly damaging |
Het |
Ppp2ca |
T |
C |
11: 52,010,124 (GRCm39) |
V244A |
possibly damaging |
Het |
Qrich1 |
T |
A |
9: 108,411,627 (GRCm39) |
L384H |
possibly damaging |
Het |
Rab4a |
T |
C |
8: 124,554,135 (GRCm39) |
V62A |
possibly damaging |
Het |
Ranbp10 |
A |
G |
8: 106,513,261 (GRCm39) |
L217P |
probably damaging |
Het |
Rhebl1 |
C |
T |
15: 98,776,405 (GRCm39) |
A131T |
probably benign |
Het |
Rnf150 |
A |
T |
8: 83,590,546 (GRCm39) |
|
probably benign |
Het |
Slc32a1 |
G |
A |
2: 158,456,685 (GRCm39) |
A447T |
probably damaging |
Het |
Spag5 |
T |
A |
11: 78,192,803 (GRCm39) |
M45K |
probably benign |
Het |
Spata13 |
A |
G |
14: 60,928,705 (GRCm39) |
N88D |
probably damaging |
Het |
Spred2 |
C |
A |
11: 19,958,422 (GRCm39) |
T128N |
probably benign |
Het |
Tenm2 |
T |
C |
11: 36,030,471 (GRCm39) |
E776G |
possibly damaging |
Het |
Tet1 |
C |
G |
10: 62,649,132 (GRCm39) |
E156Q |
probably damaging |
Het |
Trim43a |
C |
A |
9: 88,464,490 (GRCm39) |
Q134K |
possibly damaging |
Het |
Tsks |
A |
T |
7: 44,607,305 (GRCm39) |
M543L |
probably benign |
Het |
Ttn |
T |
C |
2: 76,574,181 (GRCm39) |
K25571E |
probably damaging |
Het |
Vamp5 |
C |
A |
6: 72,357,436 (GRCm39) |
|
probably benign |
Het |
Vmn2r79 |
A |
T |
7: 86,651,462 (GRCm39) |
Q287L |
probably benign |
Het |
Zfp326 |
T |
A |
5: 106,062,682 (GRCm39) |
V517E |
unknown |
Het |
Zfp467 |
A |
T |
6: 48,414,959 (GRCm39) |
H564Q |
probably damaging |
Het |
Zfp51 |
G |
A |
17: 21,684,294 (GRCm39) |
C303Y |
probably damaging |
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 |
IGL02544:Tmc1
|
APN |
19 |
20,884,327 (GRCm39) |
missense |
probably benign |
0.04 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCACAACGATGGAGTCAAGC -3'
(R):5'- AGTGAACCCTGCTGTTATGCC -3'
Sequencing Primer
(F):5'- CAACGATGGAGTCAAGCTTTGC -3'
(R):5'- GCAGTATTTCATGCCAGAGAGCTC -3'
|
Posted On |
2020-01-23 |