Incidental Mutation 'IGL01660:Tmc2'
| ID |
103131 |
| 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 # |
IGL01660
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
130037114-130106365 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 130102144 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 770
(Q770*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125843
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077988]
[ENSMUST00000166774]
|
| AlphaFold |
Q8R4P4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000077988
AA Change: Q770*
|
| SMART Domains |
Protein: ENSMUSP00000077139
Gene: ENSMUSG00000060332
AA Change: Q770*
| 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 null
Transcript: ENSMUST00000166774
AA Change: Q770*
|
| SMART Domains |
Protein: ENSMUSP00000125843
Gene: ENSMUSG00000060332
AA Change: Q770*
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta2 |
A |
G |
19: 34,229,191 (GRCm39) |
I66T |
probably damaging |
Het |
| Actl11 |
T |
C |
9: 107,806,247 (GRCm39) |
V190A |
probably benign |
Het |
| Ankub1 |
T |
A |
3: 57,597,817 (GRCm39) |
Y51F |
possibly damaging |
Het |
| Armh3 |
A |
T |
19: 45,928,915 (GRCm39) |
L393H |
probably damaging |
Het |
| Ccdc63 |
G |
A |
5: 122,249,027 (GRCm39) |
S434L |
possibly damaging |
Het |
| Cdan1 |
T |
A |
2: 120,556,134 (GRCm39) |
I711F |
possibly damaging |
Het |
| Cep170b |
C |
A |
12: 112,710,594 (GRCm39) |
N1474K |
probably damaging |
Het |
| Cyp2c40 |
A |
G |
19: 39,775,254 (GRCm39) |
S333P |
probably damaging |
Het |
| Dars1 |
A |
G |
1: 128,343,081 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
T |
A |
9: 106,909,563 (GRCm39) |
|
probably benign |
Het |
| Dsp |
A |
G |
13: 38,360,471 (GRCm39) |
I359V |
possibly damaging |
Het |
| Fut8 |
T |
G |
12: 77,497,032 (GRCm39) |
L414* |
probably null |
Het |
| Gja1 |
A |
G |
10: 56,264,544 (GRCm39) |
Y301C |
probably damaging |
Het |
| Glipr1l1 |
T |
C |
10: 111,908,184 (GRCm39) |
S161P |
probably damaging |
Het |
| Gpat4 |
A |
T |
8: 23,665,354 (GRCm39) |
|
probably null |
Het |
| Grhl1 |
T |
A |
12: 24,658,577 (GRCm39) |
|
probably null |
Het |
| Hectd3 |
T |
C |
4: 116,853,569 (GRCm39) |
V181A |
possibly damaging |
Het |
| Htr2a |
T |
A |
14: 74,943,194 (GRCm39) |
I258N |
probably damaging |
Het |
| Hyou1 |
T |
A |
9: 44,292,414 (GRCm39) |
D83E |
possibly damaging |
Het |
| Myh10 |
T |
A |
11: 68,676,715 (GRCm39) |
L862Q |
probably benign |
Het |
| Nkx2-2 |
T |
C |
2: 147,027,833 (GRCm39) |
S36G |
probably benign |
Het |
| Nsun2 |
T |
A |
13: 69,771,368 (GRCm39) |
V326E |
probably benign |
Het |
| Nuak2 |
T |
C |
1: 132,259,308 (GRCm39) |
V362A |
probably benign |
Het |
| Nyap2 |
G |
A |
1: 81,169,642 (GRCm39) |
C133Y |
probably damaging |
Het |
| Oas2 |
T |
C |
5: 120,879,288 (GRCm39) |
T351A |
probably benign |
Het |
| Or11m3 |
C |
T |
15: 98,396,076 (GRCm39) |
T241I |
probably damaging |
Het |
| Or5m13 |
T |
C |
2: 85,748,908 (GRCm39) |
I213T |
probably benign |
Het |
| Pde4d |
A |
T |
13: 110,074,606 (GRCm39) |
I404F |
probably damaging |
Het |
| Pga5 |
A |
G |
19: 10,652,456 (GRCm39) |
S95P |
probably damaging |
Het |
| Pitpnm2 |
A |
T |
5: 124,261,257 (GRCm39) |
D947E |
probably damaging |
Het |
| Pla2g10 |
C |
T |
16: 13,545,950 (GRCm39) |
R28H |
probably damaging |
Het |
| Prlr |
A |
G |
15: 10,317,676 (GRCm39) |
D84G |
probably damaging |
Het |
| Rbm15b |
C |
T |
9: 106,762,908 (GRCm39) |
G420D |
probably damaging |
Het |
| Tbcd |
A |
G |
11: 121,496,153 (GRCm39) |
T1063A |
probably benign |
Het |
| Tpo |
T |
C |
12: 30,169,399 (GRCm39) |
|
probably benign |
Het |
| Vim |
A |
G |
2: 13,579,624 (GRCm39) |
N128D |
probably damaging |
Het |
| Vmn1r21 |
A |
T |
6: 57,821,222 (GRCm39) |
I74N |
probably damaging |
Het |
| Vmn2r52 |
A |
C |
7: 9,893,107 (GRCm39) |
I677M |
probably damaging |
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 |
|
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 |
2014-01-21 |
Incidental Mutation