Incidental Mutation 'R8791:Tmc1'
| ID |
670968 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmc1
|
| Ensembl Gene |
ENSMUSG00000024749 |
| Gene Name |
transmembrane channel-like gene family 1 |
| Synonyms |
Beethoven, Bth, 4933416G09Rik |
| MMRRC Submission |
068609-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.157)
|
| Stock # |
R8791 (G1)
|
| Quality Score |
201.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
20760822-20931566 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20767209 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 716
(T716A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039500]
|
| AlphaFold |
Q8R4P5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039500
AA Change: T716A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000040859
Gene: ENSMUSG00000024749
AA Change: T716A
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (47/47) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931422A03Rik |
G |
T |
2: 103,823,022 (GRCm39) |
T87K |
possibly damaging |
Het |
| Adar |
G |
A |
3: 89,643,445 (GRCm39) |
R442Q |
probably benign |
Het |
| Agtr1b |
T |
A |
3: 20,370,280 (GRCm39) |
S109C |
probably damaging |
Het |
| Akr1c6 |
T |
A |
13: 4,499,373 (GRCm39) |
Y248N |
probably benign |
Het |
| Alpk2 |
A |
T |
18: 65,438,597 (GRCm39) |
V932E |
probably benign |
Het |
| Apba3 |
T |
A |
10: 81,105,104 (GRCm39) |
S126T |
probably benign |
Het |
| Brca2 |
T |
A |
5: 150,466,061 (GRCm39) |
S1942T |
possibly damaging |
Het |
| Ccdc149 |
C |
T |
5: 52,596,552 (GRCm39) |
C20Y |
probably damaging |
Het |
| Cd63 |
C |
A |
10: 128,748,071 (GRCm39) |
N156K |
probably benign |
Het |
| Clvs1 |
A |
G |
4: 9,429,807 (GRCm39) |
E270G |
probably damaging |
Het |
| Cplane1 |
A |
G |
15: 8,216,744 (GRCm39) |
Y654C |
probably damaging |
Het |
| Dgki |
A |
T |
6: 36,996,875 (GRCm39) |
D574E |
probably damaging |
Het |
| Esrrb |
A |
G |
12: 86,517,056 (GRCm39) |
S63G |
probably damaging |
Het |
| Exoc1 |
C |
T |
5: 76,683,412 (GRCm39) |
R46C |
probably damaging |
Het |
| Fcgr4 |
C |
A |
1: 170,847,477 (GRCm39) |
A25D |
probably damaging |
Het |
| Fgf4 |
T |
C |
7: 144,415,408 (GRCm39) |
V56A |
probably benign |
Het |
| Gfpt2 |
A |
G |
11: 49,714,043 (GRCm39) |
I267V |
probably benign |
Het |
| Gm20939 |
A |
C |
17: 95,184,648 (GRCm39) |
H432P |
probably damaging |
Het |
| Gpr179 |
A |
T |
11: 97,242,739 (GRCm39) |
L35Q |
probably damaging |
Het |
| Idh1 |
CA |
CAA |
1: 65,204,347 (GRCm39) |
|
probably null |
Het |
| Ildr1 |
T |
C |
16: 36,528,762 (GRCm39) |
I69T |
probably damaging |
Het |
| Lrfn1 |
A |
G |
7: 28,159,344 (GRCm39) |
D421G |
probably benign |
Het |
| Mmp15 |
C |
T |
8: 96,096,288 (GRCm39) |
Q360* |
probably null |
Het |
| Nfatc2 |
T |
C |
2: 168,378,214 (GRCm39) |
K484E |
probably damaging |
Het |
| Nkpd1 |
G |
C |
7: 19,258,095 (GRCm39) |
V625L |
probably benign |
Het |
| Nlrp4a |
C |
A |
7: 26,143,561 (GRCm39) |
|
probably benign |
Het |
| Nme9 |
T |
A |
9: 99,350,301 (GRCm39) |
I178N |
probably damaging |
Het |
| Nrp2 |
C |
T |
1: 62,788,356 (GRCm39) |
T352I |
probably damaging |
Het |
| Ntrk1 |
T |
C |
3: 87,686,990 (GRCm39) |
I723V |
probably damaging |
Het |
| Or5p50 |
C |
T |
7: 107,422,557 (GRCm39) |
V40M |
possibly damaging |
Het |
| Pias3 |
C |
A |
3: 96,612,201 (GRCm39) |
Q553K |
probably benign |
Het |
| Pnp2 |
T |
G |
14: 51,200,873 (GRCm39) |
H119Q |
probably benign |
Het |
| Rapgef6 |
T |
A |
11: 54,459,295 (GRCm39) |
D156E |
probably benign |
Het |
| Rint1 |
T |
C |
5: 24,005,594 (GRCm39) |
V92A |
probably damaging |
Het |
| Rnf148 |
A |
T |
6: 23,654,993 (GRCm39) |
M1K |
probably null |
Het |
| Rnh1 |
C |
T |
7: 140,742,346 (GRCm39) |
R404H |
probably benign |
Het |
| Slc4a8 |
T |
C |
15: 100,705,134 (GRCm39) |
V832A |
possibly damaging |
Het |
| Snx31 |
A |
T |
15: 36,537,678 (GRCm39) |
C167S |
probably benign |
Het |
| Spart |
A |
G |
3: 55,029,100 (GRCm39) |
D297G |
probably benign |
Het |
| Spata13 |
C |
T |
14: 60,929,275 (GRCm39) |
R278C |
probably damaging |
Het |
| Tpi1 |
A |
G |
6: 124,789,483 (GRCm39) |
V164A |
probably damaging |
Het |
| Trim17 |
A |
G |
11: 58,862,002 (GRCm39) |
S345G |
probably benign |
Het |
| Vmn1r199 |
T |
A |
13: 22,567,687 (GRCm39) |
L327Q |
probably damaging |
Het |
| Washc4 |
C |
T |
10: 83,386,748 (GRCm39) |
T124I |
probably benign |
Het |
| Wdr76 |
C |
T |
2: 121,357,484 (GRCm39) |
T180I |
probably benign |
Het |
| Zcchc8 |
T |
C |
5: 123,845,362 (GRCm39) |
N333D |
probably benign |
Het |
| Zfp516 |
T |
C |
18: 82,975,460 (GRCm39) |
S553P |
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 |
|
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 |
|
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'- CAGATTTCTTCTACTTGACATCGG -3'
(R):5'- ACCGAGATCTGGGTTCTACG -3'
Sequencing Primer
(F):5'- CTTCTACTTGACATCGGCAAGTATG -3'
(R):5'- AGATCTGGGTTCTACGTTTGCCTC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation