Incidental Mutation 'IGL03194:Tmc1'
ID |
412733 |
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: 0.157)
|
Stock # |
IGL03194
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
20760822-20931566 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 20782017 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 567
(E567G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040859
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039500]
|
AlphaFold |
Q8R4P5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039500
AA Change: E567G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000040859 Gene: ENSMUSG00000024749 AA Change: E567G
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgre5 |
T |
C |
8: 84,460,647 (GRCm39) |
S64G |
possibly damaging |
Het |
Clcn7 |
T |
C |
17: 25,369,522 (GRCm39) |
V306A |
probably damaging |
Het |
Clec4b2 |
G |
A |
6: 123,177,946 (GRCm39) |
G87D |
probably benign |
Het |
Disp2 |
A |
T |
2: 118,618,110 (GRCm39) |
R219W |
probably damaging |
Het |
Dnaaf11 |
A |
T |
15: 66,314,048 (GRCm39) |
D317E |
probably benign |
Het |
Dstyk |
A |
T |
1: 132,384,054 (GRCm39) |
|
probably benign |
Het |
F830045P16Rik |
T |
C |
2: 129,302,240 (GRCm39) |
S451G |
possibly damaging |
Het |
Fat2 |
T |
A |
11: 55,201,821 (GRCm39) |
T418S |
probably benign |
Het |
Fto |
G |
A |
8: 92,136,415 (GRCm39) |
D228N |
probably damaging |
Het |
Gins4 |
A |
T |
8: 23,724,762 (GRCm39) |
|
probably benign |
Het |
Gm10220 |
T |
A |
5: 26,326,231 (GRCm39) |
R40W |
probably damaging |
Het |
Gm11149 |
G |
A |
9: 49,457,646 (GRCm39) |
|
probably benign |
Het |
Gm5431 |
T |
G |
11: 48,786,364 (GRCm39) |
|
probably benign |
Het |
Hebp1 |
A |
G |
6: 135,132,190 (GRCm39) |
M59T |
probably benign |
Het |
Lrp1 |
A |
T |
10: 127,404,554 (GRCm39) |
V1989D |
probably damaging |
Het |
Ltc4s |
T |
C |
11: 50,127,398 (GRCm39) |
*151W |
probably null |
Het |
Map3k21 |
A |
G |
8: 126,650,801 (GRCm39) |
T268A |
possibly damaging |
Het |
Mdp1 |
A |
G |
14: 55,896,444 (GRCm39) |
L164P |
probably damaging |
Het |
Mroh4 |
T |
C |
15: 74,483,388 (GRCm39) |
T650A |
probably damaging |
Het |
Mss51 |
T |
C |
14: 20,535,165 (GRCm39) |
N202D |
probably benign |
Het |
Mtus2 |
G |
A |
5: 148,043,913 (GRCm39) |
A834T |
probably damaging |
Het |
Nalf1 |
T |
C |
8: 9,282,975 (GRCm39) |
D358G |
probably damaging |
Het |
Ncoa6 |
A |
G |
2: 155,257,788 (GRCm39) |
M585T |
possibly damaging |
Het |
Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
Npvf |
A |
C |
6: 50,627,878 (GRCm39) |
D180E |
possibly damaging |
Het |
Nup188 |
A |
T |
2: 30,194,346 (GRCm39) |
Y173F |
possibly damaging |
Het |
Oas3 |
C |
A |
5: 120,897,018 (GRCm39) |
A868S |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,381,531 (GRCm39) |
T1086A |
probably damaging |
Het |
Pla2g6 |
G |
A |
15: 79,201,985 (GRCm39) |
P62L |
probably damaging |
Het |
Rara |
T |
C |
11: 98,862,490 (GRCm39) |
M297T |
possibly damaging |
Het |
Tnxb |
C |
T |
17: 34,914,921 (GRCm39) |
Q1970* |
probably null |
Het |
Usp11 |
T |
C |
X: 20,578,656 (GRCm39) |
I162T |
probably benign |
Het |
Utrn |
A |
G |
10: 12,282,173 (GRCm39) |
|
probably benign |
Het |
Zfhx3 |
A |
G |
8: 109,521,359 (GRCm39) |
E827G |
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 |
|
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 |
2016-08-02 |