Incidental Mutation 'R5206:Tmc1'
| ID |
402057 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmc1
|
| Ensembl Gene |
ENSMUSG00000024749 |
| Gene Name |
transmembrane channel-like gene family 1 |
| Synonyms |
Beethoven, Bth, 4933416G09Rik |
| MMRRC Submission |
042781-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.157)
|
| Stock # |
R5206 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
20760822-20931566 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20804024 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 351
(N351S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039500]
|
| AlphaFold |
Q8R4P5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039500
AA Change: N351S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040859
Gene: ENSMUSG00000024749
AA Change: N351S
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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 |
|---|
| 1110002E22Rik |
A |
G |
3: 137,772,272 (GRCm39) |
E487G |
probably benign |
Het |
| 2610021A01Rik |
A |
T |
7: 41,276,009 (GRCm39) |
K571* |
probably null |
Het |
| A2m |
T |
C |
6: 121,651,766 (GRCm39) |
V1278A |
probably damaging |
Het |
| Abcc2 |
T |
C |
19: 43,806,589 (GRCm39) |
V801A |
probably damaging |
Het |
| Acod1 |
T |
A |
14: 103,292,731 (GRCm39) |
D418E |
possibly damaging |
Het |
| Bsn |
G |
A |
9: 107,982,572 (GRCm39) |
A3727V |
unknown |
Het |
| Cmah |
T |
G |
13: 24,648,267 (GRCm39) |
F501V |
probably damaging |
Het |
| Csf2rb2 |
T |
A |
15: 78,176,952 (GRCm39) |
I173L |
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,491,942 (GRCm39) |
W1126R |
probably damaging |
Het |
| Dock5 |
G |
T |
14: 68,000,633 (GRCm39) |
A1690E |
probably benign |
Het |
| Dop1b |
T |
C |
16: 93,598,472 (GRCm39) |
L1879P |
probably damaging |
Het |
| Eif3j2 |
A |
T |
18: 43,610,647 (GRCm39) |
D55E |
probably benign |
Het |
| Fam83f |
G |
A |
15: 80,576,255 (GRCm39) |
G302D |
possibly damaging |
Het |
| Fus |
G |
A |
7: 127,568,969 (GRCm39) |
G40D |
unknown |
Het |
| Glrp1 |
GTGCTGCTGCTGCTGCTGCTGCTGCTG |
GTGCTGCTGCTGCTGCTGCTGCTG |
1: 88,430,997 (GRCm39) |
|
probably benign |
Het |
| Gxylt2 |
T |
C |
6: 100,781,576 (GRCm39) |
V417A |
probably damaging |
Het |
| Hhipl1 |
G |
A |
12: 108,278,437 (GRCm39) |
R255H |
probably damaging |
Het |
| Ints8 |
A |
T |
4: 11,216,477 (GRCm39) |
I838N |
possibly damaging |
Het |
| Lama5 |
C |
A |
2: 179,833,097 (GRCm39) |
C1579F |
probably damaging |
Het |
| Med13 |
C |
T |
11: 86,210,705 (GRCm39) |
R479H |
probably damaging |
Het |
| Or51ag1 |
A |
T |
7: 103,155,309 (GRCm39) |
Y281* |
probably null |
Het |
| Or5b113 |
G |
T |
19: 13,342,429 (GRCm39) |
G146C |
possibly damaging |
Het |
| Or5k15 |
G |
T |
16: 58,710,381 (GRCm39) |
N67K |
probably damaging |
Het |
| Or6e1 |
T |
A |
14: 54,520,155 (GRCm39) |
M66L |
probably benign |
Het |
| Or9g3 |
T |
A |
2: 85,589,967 (GRCm39) |
Y251F |
probably benign |
Het |
| Pak6 |
A |
G |
2: 118,523,784 (GRCm39) |
E313G |
probably benign |
Het |
| Pigs |
T |
A |
11: 78,224,549 (GRCm39) |
Y145N |
probably damaging |
Het |
| Pla2g2f |
T |
A |
4: 138,479,662 (GRCm39) |
D165V |
probably benign |
Het |
| Plbd1 |
C |
T |
6: 136,618,154 (GRCm39) |
V133M |
probably benign |
Het |
| Ppp1r14bl |
C |
T |
1: 23,141,183 (GRCm39) |
G44R |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,675,056 (GRCm39) |
Y1352C |
probably damaging |
Het |
| Scamp1 |
C |
T |
13: 94,368,615 (GRCm39) |
R51H |
probably damaging |
Het |
| Skic3 |
G |
A |
13: 76,295,886 (GRCm39) |
E1050K |
possibly damaging |
Het |
| Slc2a2 |
G |
A |
3: 28,762,756 (GRCm39) |
V100M |
probably damaging |
Het |
| Slc38a10 |
C |
G |
11: 119,995,888 (GRCm39) |
A1062P |
probably damaging |
Het |
| Snai1 |
T |
C |
2: 167,380,888 (GRCm39) |
I127T |
probably benign |
Het |
| Stat4 |
G |
A |
1: 52,144,395 (GRCm39) |
G692D |
probably damaging |
Het |
| Stc1 |
A |
T |
14: 69,269,048 (GRCm39) |
D72V |
probably damaging |
Het |
| Trim28 |
A |
G |
7: 12,759,275 (GRCm39) |
I130V |
probably benign |
Het |
| Trim39 |
A |
G |
17: 36,571,382 (GRCm39) |
Y459H |
probably damaging |
Het |
| Ugt1a6b |
C |
A |
1: 88,035,170 (GRCm39) |
Y169* |
probably null |
Het |
| Vasp |
T |
C |
7: 18,992,780 (GRCm39) |
|
probably benign |
Het |
| Vmn2r99 |
G |
T |
17: 19,598,868 (GRCm39) |
G184V |
probably benign |
Het |
| Xrcc1 |
C |
T |
7: 24,266,988 (GRCm39) |
T358I |
probably damaging |
Het |
| Zfp219 |
A |
G |
14: 52,247,022 (GRCm39) |
V35A |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCATCCTTGTCTCACACTCAG -3'
(R):5'- ACGGAATGCACTTTACGGAATTTC -3'
Sequencing Primer
(F):5'- AGCAAGTCGCAGTTTCTTAGCAC -3'
(R):5'- GCACTTTACGGAATTTCAGATTTTAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation