Incidental Mutation 'R9429:Tmc1'
| ID |
712847 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmc1
|
| Ensembl Gene |
ENSMUSG00000024749 |
| Gene Name |
transmembrane channel-like gene family 1 |
| Synonyms |
Beethoven, Bth, 4933416G09Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.157)
|
| Stock # |
R9429 (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 A
at 20793548 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 538
(I538F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039500]
|
| AlphaFold |
Q8R4P5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039500
AA Change: I538F
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000040859
Gene: ENSMUSG00000024749
AA Change: I538F
| 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 |
|
| Meta Mutation Damage Score |
0.3686 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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 |
|---|
| 5930422O12Rik |
A |
T |
8: 33,919,165 (GRCm39) |
|
probably benign |
Het |
| Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
| Adam7 |
G |
C |
14: 68,771,080 (GRCm39) |
H15Q |
probably null |
Het |
| Adgrv1 |
A |
T |
13: 81,567,468 (GRCm39) |
I5235N |
probably damaging |
Het |
| Adgrv1 |
A |
C |
13: 81,741,165 (GRCm39) |
C100G |
probably damaging |
Het |
| Aebp1 |
A |
G |
11: 5,821,649 (GRCm39) |
T1063A |
probably benign |
Het |
| Atmin |
A |
G |
8: 117,670,307 (GRCm39) |
R48G |
probably benign |
Het |
| Atxn10 |
A |
G |
15: 85,346,565 (GRCm39) |
E441G |
probably benign |
Het |
| Catsper1 |
T |
C |
19: 5,389,755 (GRCm39) |
V505A |
possibly damaging |
Het |
| Chd5 |
T |
C |
4: 152,447,364 (GRCm39) |
V471A |
probably damaging |
Het |
| Cma2 |
A |
G |
14: 56,210,276 (GRCm39) |
I110V |
possibly damaging |
Het |
| Cnst |
A |
C |
1: 179,432,566 (GRCm39) |
N243T |
probably damaging |
Het |
| Col15a1 |
A |
T |
4: 47,310,439 (GRCm39) |
N1203I |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,731,585 (GRCm39) |
H1556L |
probably benign |
Het |
| Crybg3 |
T |
A |
16: 59,375,556 (GRCm39) |
K185N |
probably benign |
Het |
| Dnah1 |
G |
A |
14: 30,997,499 (GRCm39) |
Q2620* |
probably null |
Het |
| Dusp10 |
A |
C |
1: 183,801,091 (GRCm39) |
D286A |
probably benign |
Het |
| Erich6 |
A |
G |
3: 58,536,935 (GRCm39) |
V252A |
possibly damaging |
Het |
| Fhod1 |
A |
G |
8: 106,057,139 (GRCm39) |
L945P |
probably damaging |
Het |
| Foxh1 |
C |
T |
15: 76,553,442 (GRCm39) |
R120Q |
probably null |
Het |
| Frmd4b |
T |
C |
6: 97,279,252 (GRCm39) |
D591G |
probably damaging |
Het |
| Gbe1 |
G |
A |
16: 70,292,203 (GRCm39) |
V512I |
probably benign |
Het |
| Ghitm |
A |
G |
14: 36,852,655 (GRCm39) |
S142P |
probably damaging |
Het |
| Gldc |
C |
T |
19: 30,091,172 (GRCm39) |
A808T |
possibly damaging |
Het |
| Gm14496 |
C |
T |
2: 181,637,934 (GRCm39) |
T336I |
possibly damaging |
Het |
| Ido2 |
T |
C |
8: 25,037,194 (GRCm39) |
T171A |
probably damaging |
Het |
| Kctd19 |
A |
T |
8: 106,109,652 (GRCm39) |
I930N |
probably damaging |
Het |
| Kctd2 |
T |
C |
11: 115,318,277 (GRCm39) |
Y187H |
probably damaging |
Het |
| L3hypdh |
T |
C |
12: 72,124,203 (GRCm39) |
T246A |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,118,449 (GRCm39) |
M2554V |
|
Het |
| Laptm5 |
A |
G |
4: 130,655,961 (GRCm39) |
Y93C |
|
Het |
| Mroh2b |
T |
A |
15: 4,963,907 (GRCm39) |
L833Q |
probably damaging |
Het |
| Ms4a12 |
T |
C |
19: 11,193,424 (GRCm39) |
D187G |
probably damaging |
Het |
| Muc4 |
C |
T |
16: 32,576,098 (GRCm39) |
T1866I |
unknown |
Het |
| Myo1a |
G |
T |
10: 127,543,247 (GRCm39) |
D168Y |
probably damaging |
Het |
| Nek1 |
C |
T |
8: 61,559,892 (GRCm39) |
S1005L |
probably benign |
Het |
| Nrg1 |
T |
A |
8: 32,308,592 (GRCm39) |
M523L |
probably benign |
Het |
| Nt5c2 |
T |
A |
19: 46,877,459 (GRCm39) |
H494L |
probably benign |
Het |
| Oasl2 |
G |
A |
5: 115,043,040 (GRCm39) |
V271I |
probably benign |
Het |
| Or13a1 |
T |
G |
6: 116,471,292 (GRCm39) |
S241A |
probably damaging |
Het |
| Or52s1 |
C |
T |
7: 102,861,871 (GRCm39) |
A268V |
possibly damaging |
Het |
| Or5e1 |
G |
T |
7: 108,354,412 (GRCm39) |
M116I |
probably damaging |
Het |
| Per2 |
T |
C |
1: 91,351,489 (GRCm39) |
T1006A |
probably benign |
Het |
| Phyhd1 |
C |
A |
2: 30,156,917 (GRCm39) |
F19L |
probably benign |
Het |
| Pter |
T |
A |
2: 12,985,112 (GRCm39) |
D147E |
probably benign |
Het |
| Rps6ka1 |
A |
C |
4: 133,598,900 (GRCm39) |
L90V |
probably damaging |
Het |
| Rrp15 |
A |
T |
1: 186,481,368 (GRCm39) |
D46E |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,809,459 (GRCm39) |
F789L |
probably damaging |
Het |
| Sepsecs |
T |
C |
5: 52,801,294 (GRCm39) |
K456R |
probably benign |
Het |
| Septin11 |
G |
A |
5: 93,321,397 (GRCm39) |
|
probably null |
Het |
| Sowahb |
T |
C |
5: 93,191,080 (GRCm39) |
I546M |
possibly damaging |
Het |
| Spata31 |
C |
A |
13: 65,070,336 (GRCm39) |
T828K |
probably benign |
Het |
| Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
| Ston1 |
A |
G |
17: 88,943,034 (GRCm39) |
T147A |
probably benign |
Het |
| Tcf3 |
G |
A |
10: 80,252,436 (GRCm39) |
P350S |
probably benign |
Het |
| Tek |
A |
G |
4: 94,715,515 (GRCm39) |
D402G |
probably benign |
Het |
| Themis3 |
T |
C |
17: 66,866,665 (GRCm39) |
R192G |
probably damaging |
Het |
| Trpc3 |
T |
G |
3: 36,705,777 (GRCm39) |
I473L |
probably benign |
Het |
| Ttll2 |
A |
T |
17: 7,620,085 (GRCm39) |
L4Q |
probably damaging |
Het |
| Urb2 |
T |
A |
8: 124,750,226 (GRCm39) |
Y5* |
probably null |
Het |
| Vav3 |
T |
A |
3: 109,564,561 (GRCm39) |
Y673* |
probably null |
Het |
| Vmn1r32 |
T |
A |
6: 66,530,237 (GRCm39) |
T180S |
probably benign |
Het |
| Vmn1r90 |
A |
T |
7: 14,295,647 (GRCm39) |
N150K |
probably damaging |
Het |
| Zbed6 |
A |
C |
1: 133,585,453 (GRCm39) |
I628R |
probably damaging |
Het |
| Zfp1007 |
A |
T |
5: 109,824,334 (GRCm39) |
L372* |
probably null |
Het |
| Zfp750 |
G |
A |
11: 121,404,693 (GRCm39) |
R61C |
probably damaging |
Het |
| Zfp87 |
A |
G |
13: 74,520,703 (GRCm39) |
I125T |
probably damaging |
Het |
| Zfta |
T |
C |
19: 7,399,594 (GRCm39) |
L447P |
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 |
|
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 |
|
|
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'- CTCACTCGTGTAACTCGGAG -3'
(R):5'- TGGAGACAGTTTGAGAGTAACC -3'
Sequencing Primer
(F):5'- TGTAACTCGGAGGCATCCTAC -3'
(R):5'- AGACAGTTTGAGAGTAACCAAATAC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation