Incidental Mutation 'IGL00465:Tmc2'
| ID |
332120 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmc2
|
| Ensembl Gene |
ENSMUSG00000060332 |
| Gene Name |
transmembrane channel-like gene family 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.267)
|
| Stock # |
IGL00465
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
130037114-130106365 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 130103224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 787
(S787P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125843
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077988]
[ENSMUST00000166774]
|
| AlphaFold |
Q8R4P4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077988
AA Change: S787P
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000077139
Gene: ENSMUSG00000060332
AA Change: S787P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
236 |
258 |
N/A |
INTRINSIC |
|
transmembrane domain
|
317 |
339 |
N/A |
INTRINSIC |
|
transmembrane domain
|
412 |
434 |
N/A |
INTRINSIC |
|
transmembrane domain
|
488 |
507 |
N/A |
INTRINSIC |
|
low complexity region
|
541 |
553 |
N/A |
INTRINSIC |
|
Pfam:TMC
|
556 |
671 |
8.6e-41 |
PFAM |
|
transmembrane domain
|
676 |
698 |
N/A |
INTRINSIC |
|
transmembrane domain
|
735 |
757 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166774
AA Change: S787P
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000125843
Gene: ENSMUSG00000060332
AA Change: S787P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
236 |
258 |
N/A |
INTRINSIC |
|
transmembrane domain
|
317 |
339 |
N/A |
INTRINSIC |
|
transmembrane domain
|
412 |
434 |
N/A |
INTRINSIC |
|
transmembrane domain
|
488 |
507 |
N/A |
INTRINSIC |
|
low complexity region
|
541 |
553 |
N/A |
INTRINSIC |
|
Pfam:TMC
|
556 |
671 |
1.2e-36 |
PFAM |
|
transmembrane domain
|
676 |
698 |
N/A |
INTRINSIC |
|
transmembrane domain
|
735 |
757 |
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 encodes a transmembrane protein that is necesssary for mechanotransduction in cochlear hair cells of the inner ear. Mutations in this gene may underlie hereditary disorders of balance and hearing. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a null allele display normal hearing and motor behavior. Cochlear hair cells show partial resistance to gentamicin induced toxicity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
A |
T |
15: 60,793,102 (GRCm39) |
S2T |
probably damaging |
Het |
| Adamts13 |
T |
A |
2: 26,863,567 (GRCm39) |
W7R |
probably benign |
Het |
| Anks6 |
T |
A |
4: 47,046,054 (GRCm39) |
D279V |
probably damaging |
Het |
| C4bp |
A |
T |
1: 130,566,871 (GRCm39) |
L335Q |
probably damaging |
Het |
| Cd109 |
A |
T |
9: 78,568,216 (GRCm39) |
K299* |
probably null |
Het |
| Cd200r2 |
A |
T |
16: 44,729,651 (GRCm39) |
H102L |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,604,863 (GRCm39) |
Y662H |
probably damaging |
Het |
| Cyp2c37 |
T |
C |
19: 39,990,441 (GRCm39) |
F380L |
probably benign |
Het |
| Deup1 |
A |
G |
9: 15,472,666 (GRCm39) |
S549P |
probably damaging |
Het |
| Dysf |
G |
T |
6: 84,176,830 (GRCm39) |
|
probably null |
Het |
| Etaa1 |
A |
T |
11: 17,897,825 (GRCm39) |
C166* |
probably null |
Het |
| Fam227b |
T |
C |
2: 125,986,245 (GRCm39) |
|
probably null |
Het |
| Gucy1b2 |
T |
G |
14: 62,640,649 (GRCm39) |
Q752P |
probably benign |
Het |
| Hal |
T |
C |
10: 93,325,931 (GRCm39) |
|
probably null |
Het |
| Hao1 |
C |
A |
2: 134,396,190 (GRCm39) |
K21N |
probably damaging |
Het |
| Itga4 |
T |
C |
2: 79,122,394 (GRCm39) |
F536L |
probably benign |
Het |
| Lmod3 |
A |
T |
6: 97,224,822 (GRCm39) |
I333N |
probably damaging |
Het |
| Mgme1 |
T |
A |
2: 144,121,436 (GRCm39) |
D297E |
probably damaging |
Het |
| Myh2 |
G |
T |
11: 67,069,659 (GRCm39) |
|
probably benign |
Het |
| Myo7a |
A |
G |
7: 97,751,833 (GRCm39) |
M70T |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,688,607 (GRCm39) |
T557A |
probably damaging |
Het |
| Nif3l1 |
C |
A |
1: 58,494,845 (GRCm39) |
H271Q |
possibly damaging |
Het |
| Nostrin |
A |
G |
2: 69,015,898 (GRCm39) |
|
probably benign |
Het |
| Nxn |
C |
A |
11: 76,165,481 (GRCm39) |
|
probably benign |
Het |
| Pcdhb22 |
A |
T |
18: 37,653,185 (GRCm39) |
D551V |
probably damaging |
Het |
| Pde4d |
A |
G |
13: 110,073,221 (GRCm39) |
D339G |
possibly damaging |
Het |
| Pkp4 |
T |
A |
2: 59,169,099 (GRCm39) |
S408T |
probably damaging |
Het |
| Pxmp2 |
T |
C |
5: 110,431,582 (GRCm39) |
T54A |
probably benign |
Het |
| Rif1 |
T |
A |
2: 52,011,019 (GRCm39) |
V2362E |
probably damaging |
Het |
| Rps6kl1 |
A |
G |
12: 85,186,203 (GRCm39) |
S276P |
probably benign |
Het |
| Scaf4 |
C |
A |
16: 90,044,169 (GRCm39) |
M601I |
unknown |
Het |
| Scart2 |
A |
G |
7: 139,874,755 (GRCm39) |
Y411C |
probably damaging |
Het |
| Setd7 |
T |
A |
3: 51,457,729 (GRCm39) |
T33S |
probably benign |
Het |
| Shroom1 |
T |
A |
11: 53,354,921 (GRCm39) |
D280E |
probably benign |
Het |
| Slc35f2 |
G |
T |
9: 53,705,298 (GRCm39) |
|
probably null |
Het |
| Slitrk3 |
T |
A |
3: 72,958,436 (GRCm39) |
N112I |
probably damaging |
Het |
| Spag1 |
A |
G |
15: 36,183,967 (GRCm39) |
|
probably benign |
Het |
| Stx6 |
C |
T |
1: 155,077,679 (GRCm39) |
|
probably benign |
Het |
| Sun1 |
A |
T |
5: 139,220,440 (GRCm39) |
|
probably null |
Het |
| Tbl1xr1 |
G |
A |
3: 22,246,432 (GRCm39) |
|
probably null |
Het |
| Traf3ip3 |
C |
T |
1: 192,877,128 (GRCm39) |
|
probably benign |
Het |
| Trip12 |
T |
G |
1: 84,741,582 (GRCm39) |
H559P |
probably damaging |
Het |
| Trpm1 |
G |
T |
7: 63,897,215 (GRCm39) |
M272I |
possibly damaging |
Het |
| Ttc21b |
T |
C |
2: 66,073,119 (GRCm39) |
E189G |
probably benign |
Het |
| Tubd1 |
T |
C |
11: 86,445,894 (GRCm39) |
|
probably benign |
Het |
| Vps13a |
T |
A |
19: 16,729,539 (GRCm39) |
T167S |
probably damaging |
Het |
| Zbtb3 |
A |
G |
19: 8,781,029 (GRCm39) |
D214G |
possibly damaging |
Het |
| Zfp658 |
A |
G |
7: 43,216,780 (GRCm39) |
D50G |
probably benign |
Het |
| Zfp976 |
T |
A |
7: 42,263,109 (GRCm39) |
I243L |
unknown |
Het |
|
| Other mutations in Tmc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00966:Tmc2
|
APN |
2 |
130,105,932 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01094:Tmc2
|
APN |
2 |
130,102,086 (GRCm39) |
splice site |
probably benign |
|
|
IGL01331:Tmc2
|
APN |
2 |
130,074,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01660:Tmc2
|
APN |
2 |
130,102,144 (GRCm39) |
nonsense |
probably null |
|
|
IGL01926:Tmc2
|
APN |
2 |
130,102,160 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02150:Tmc2
|
APN |
2 |
130,082,073 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02273:Tmc2
|
APN |
2 |
130,071,126 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03137:Tmc2
|
APN |
2 |
130,082,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03179:Tmc2
|
APN |
2 |
130,071,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4449:Tmc2
|
UTSW |
2 |
130,082,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
H8786:Tmc2
|
UTSW |
2 |
130,068,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4418001:Tmc2
|
UTSW |
2 |
130,090,571 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0364:Tmc2
|
UTSW |
2 |
130,044,023 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1183:Tmc2
|
UTSW |
2 |
130,089,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1446:Tmc2
|
UTSW |
2 |
130,090,650 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1458:Tmc2
|
UTSW |
2 |
130,090,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1589:Tmc2
|
UTSW |
2 |
130,089,880 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1656:Tmc2
|
UTSW |
2 |
130,089,854 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1686:Tmc2
|
UTSW |
2 |
130,098,036 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1765:Tmc2
|
UTSW |
2 |
130,102,145 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1776:Tmc2
|
UTSW |
2 |
130,076,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1873:Tmc2
|
UTSW |
2 |
130,090,676 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1972:Tmc2
|
UTSW |
2 |
130,056,584 (GRCm39) |
splice site |
probably benign |
|
|
R2020:Tmc2
|
UTSW |
2 |
130,074,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2208:Tmc2
|
UTSW |
2 |
130,056,483 (GRCm39) |
splice site |
probably null |
|
|
R3968:Tmc2
|
UTSW |
2 |
130,043,991 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4732:Tmc2
|
UTSW |
2 |
130,103,317 (GRCm39) |
splice site |
probably null |
|
|
R4733:Tmc2
|
UTSW |
2 |
130,103,317 (GRCm39) |
splice site |
probably null |
|
|
R4989:Tmc2
|
UTSW |
2 |
130,043,961 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5143:Tmc2
|
UTSW |
2 |
130,076,738 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5411:Tmc2
|
UTSW |
2 |
130,082,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5514:Tmc2
|
UTSW |
2 |
130,083,564 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5690:Tmc2
|
UTSW |
2 |
130,074,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5983:Tmc2
|
UTSW |
2 |
130,089,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6451:Tmc2
|
UTSW |
2 |
130,106,123 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6927:Tmc2
|
UTSW |
2 |
130,103,300 (GRCm39) |
missense |
probably benign |
|
|
R7132:Tmc2
|
UTSW |
2 |
130,074,329 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7240:Tmc2
|
UTSW |
2 |
130,076,724 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7353:Tmc2
|
UTSW |
2 |
130,038,497 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8167:Tmc2
|
UTSW |
2 |
130,083,488 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8554:Tmc2
|
UTSW |
2 |
130,106,084 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9134:Tmc2
|
UTSW |
2 |
130,074,321 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9169:Tmc2
|
UTSW |
2 |
130,083,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9209:Tmc2
|
UTSW |
2 |
130,103,317 (GRCm39) |
splice site |
probably null |
|
|
R9232:Tmc2
|
UTSW |
2 |
130,085,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9725:Tmc2
|
UTSW |
2 |
130,089,881 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0019:Tmc2
|
UTSW |
2 |
130,050,205 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
X0052:Tmc2
|
UTSW |
2 |
130,043,892 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Tmc2
|
UTSW |
2 |
130,050,216 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
| Posted On |
2015-08-05 |
Incidental Mutation