Incidental Mutation 'IGL03137:Tmc2'
| ID |
410567 |
| 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: 0.313)
|
| Stock # |
IGL03137
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
130037114-130106365 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 130082050 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 411
(L411H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125843
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077988]
[ENSMUST00000166774]
|
| AlphaFold |
Q8R4P4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077988
AA Change: L411H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077139
Gene: ENSMUSG00000060332
AA Change: L411H
| 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 |
probably damaging
Transcript: ENSMUST00000166774
AA Change: L411H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125843
Gene: ENSMUSG00000060332
AA Change: L411H
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankub1 |
T |
C |
3: 57,597,778 (GRCm39) |
D64G |
probably damaging |
Het |
| Apobec2 |
C |
T |
17: 48,730,303 (GRCm39) |
W121* |
probably null |
Het |
| Arid2 |
A |
G |
15: 96,269,199 (GRCm39) |
N1104S |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,088,751 (GRCm39) |
M569K |
probably damaging |
Het |
| Brap |
T |
C |
5: 121,803,156 (GRCm39) |
|
probably benign |
Het |
| Cilp |
A |
C |
9: 65,185,450 (GRCm39) |
N515T |
probably benign |
Het |
| Cpeb2 |
T |
A |
5: 43,419,067 (GRCm39) |
|
probably benign |
Het |
| Creb1 |
C |
T |
1: 64,615,374 (GRCm39) |
T242I |
possibly damaging |
Het |
| Ddx60 |
T |
C |
8: 62,441,117 (GRCm39) |
V1062A |
possibly damaging |
Het |
| Dock8 |
A |
G |
19: 25,133,312 (GRCm39) |
E1153G |
probably benign |
Het |
| Gk5 |
A |
G |
9: 96,058,345 (GRCm39) |
|
probably benign |
Het |
| Gm5478 |
G |
T |
15: 101,552,817 (GRCm39) |
N60K |
probably benign |
Het |
| Hmcn2 |
T |
A |
2: 31,252,242 (GRCm39) |
V904D |
probably damaging |
Het |
| Hnmt |
T |
A |
2: 23,938,751 (GRCm39) |
H29L |
probably damaging |
Het |
| Hsf1 |
A |
G |
15: 76,380,649 (GRCm39) |
|
probably benign |
Het |
| Igkv1-122 |
C |
A |
6: 67,994,400 (GRCm39) |
T96K |
probably damaging |
Het |
| Iyd |
T |
C |
10: 3,501,987 (GRCm39) |
I211T |
probably damaging |
Het |
| Kcnn1 |
G |
T |
8: 71,303,381 (GRCm39) |
H34N |
probably damaging |
Het |
| Krtap5-3 |
G |
T |
7: 141,755,946 (GRCm39) |
|
probably benign |
Het |
| Map3k19 |
C |
T |
1: 127,752,052 (GRCm39) |
R433K |
probably benign |
Het |
| Mss51 |
A |
C |
14: 20,537,200 (GRCm39) |
C89W |
probably damaging |
Het |
| Myh9 |
A |
T |
15: 77,675,289 (GRCm39) |
I276N |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,963,337 (GRCm39) |
E420G |
probably damaging |
Het |
| Nfatc2ip |
C |
A |
7: 125,989,740 (GRCm39) |
V215L |
possibly damaging |
Het |
| Or10ag52 |
A |
T |
2: 87,043,500 (GRCm39) |
Y88F |
probably benign |
Het |
| Or51m1 |
T |
C |
7: 103,578,801 (GRCm39) |
M257T |
probably benign |
Het |
| Or5d18 |
G |
A |
2: 87,864,754 (GRCm39) |
A243V |
probably benign |
Het |
| Pcdhb4 |
T |
C |
18: 37,441,569 (GRCm39) |
I293T |
probably damaging |
Het |
| Pdcd6ip |
A |
G |
9: 113,486,213 (GRCm39) |
S729P |
possibly damaging |
Het |
| Pick1 |
C |
A |
15: 79,129,501 (GRCm39) |
H169N |
possibly damaging |
Het |
| Ppp4r4 |
A |
C |
12: 103,547,643 (GRCm39) |
K212T |
probably damaging |
Het |
| Racgap1 |
A |
G |
15: 99,526,622 (GRCm39) |
S314P |
probably damaging |
Het |
| Rasef |
C |
A |
4: 73,652,720 (GRCm39) |
E594* |
probably null |
Het |
| Ryr3 |
T |
G |
2: 112,740,742 (GRCm39) |
K522Q |
probably benign |
Het |
| Shoc1 |
G |
T |
4: 59,094,162 (GRCm39) |
F187L |
probably benign |
Het |
| Six5 |
T |
C |
7: 18,831,072 (GRCm39) |
|
probably benign |
Het |
| Slc26a9 |
G |
T |
1: 131,691,615 (GRCm39) |
E619D |
probably benign |
Het |
| Sqor |
A |
G |
2: 122,649,991 (GRCm39) |
I412V |
probably benign |
Het |
| Srrt |
T |
A |
5: 137,294,379 (GRCm39) |
|
probably benign |
Het |
| Sult1e1 |
C |
T |
5: 87,726,475 (GRCm39) |
R213K |
probably benign |
Het |
| Tmem63b |
T |
A |
17: 45,975,921 (GRCm39) |
N511Y |
probably damaging |
Het |
| Ucp3 |
T |
A |
7: 100,131,969 (GRCm39) |
|
probably benign |
Het |
| Vmn1r201 |
A |
T |
13: 22,658,974 (GRCm39) |
I63F |
probably benign |
Het |
| Vps13c |
G |
T |
9: 67,797,662 (GRCm39) |
L522F |
probably damaging |
Het |
| Wwp1 |
T |
A |
4: 19,678,408 (GRCm39) |
T3S |
probably damaging |
Het |
| Zc3hav1 |
A |
G |
6: 38,309,329 (GRCm39) |
S498P |
probably benign |
Het |
|
| Other mutations in Tmc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00465:Tmc2
|
APN |
2 |
130,103,224 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation