Incidental Mutation 'IGL02363:Tmie'
| ID |
290633 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmie
|
| Ensembl Gene |
ENSMUSG00000049555 |
| Gene Name |
transmembrane inner ear |
| Synonyms |
5131400L21Rik, Mm.87012 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
IGL02363
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
110694755-110709141 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 110699821 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060148
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050958]
|
| AlphaFold |
Q8K467 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050958
|
| SMART Domains |
Protein: ENSMUSP00000060148
Gene: ENSMUSG00000049555
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
37 |
44 |
N/A |
INTRINSIC |
|
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198062
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199189
|
| 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 inner ear protein. Studies in mouse suggest that this gene is required for normal postnatal maturation of sensory hair cells in the cochlea, including correct development of stereocilia bundles. This gene is one of multiple genes responsible for recessive non-syndromic deafness (DFNB), also known as autosomal recessive nonsyndromic hearing loss (ARNSHL), the most common form of congenitally acquired inherited hearing impairment. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mutations in this gene cause circling behavior and deafness in homozygous mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak8 |
T |
C |
2: 28,702,910 (GRCm39) |
S425P |
probably damaging |
Het |
| Comt |
T |
C |
16: 18,229,881 (GRCm39) |
D153G |
probably benign |
Het |
| Cplane1 |
A |
T |
15: 8,247,921 (GRCm39) |
H1490L |
possibly damaging |
Het |
| Exoc6 |
T |
C |
19: 37,597,402 (GRCm39) |
I601T |
probably damaging |
Het |
| F11 |
A |
T |
8: 45,694,568 (GRCm39) |
C598S |
probably damaging |
Het |
| Galnt13 |
G |
T |
2: 55,002,872 (GRCm39) |
D524Y |
probably damaging |
Het |
| Glb1l3 |
T |
C |
9: 26,764,940 (GRCm39) |
E157G |
probably damaging |
Het |
| Hc |
T |
C |
2: 34,890,847 (GRCm39) |
H1323R |
probably benign |
Het |
| Hsd3b5 |
T |
C |
3: 98,537,421 (GRCm39) |
I32V |
probably benign |
Het |
| Il6ra |
A |
G |
3: 89,778,560 (GRCm39) |
S430P |
probably benign |
Het |
| Lama2 |
G |
T |
10: 27,242,062 (GRCm39) |
T298K |
probably damaging |
Het |
| Nedd4l |
T |
C |
18: 65,341,116 (GRCm39) |
|
probably benign |
Het |
| Ntrk3 |
T |
C |
7: 78,103,085 (GRCm39) |
D405G |
probably benign |
Het |
| Opn5 |
T |
C |
17: 42,868,382 (GRCm39) |
D371G |
probably benign |
Het |
| Pcdh15 |
G |
T |
10: 74,152,918 (GRCm39) |
A408S |
probably damaging |
Het |
| Pim3 |
T |
C |
15: 88,747,116 (GRCm39) |
V54A |
probably benign |
Het |
| Prdm5 |
T |
C |
6: 65,771,303 (GRCm39) |
F38S |
probably damaging |
Het |
| Ptgs2 |
C |
T |
1: 149,981,460 (GRCm39) |
|
probably null |
Het |
| Rnf185 |
A |
G |
11: 3,368,015 (GRCm39) |
I221T |
possibly damaging |
Het |
| Slc27a2 |
T |
C |
2: 126,420,870 (GRCm39) |
F318L |
possibly damaging |
Het |
| Spata1 |
T |
C |
3: 146,193,119 (GRCm39) |
Y124C |
possibly damaging |
Het |
| Tph2 |
T |
C |
10: 114,915,886 (GRCm39) |
K429R |
probably benign |
Het |
| Usp32 |
A |
G |
11: 84,935,613 (GRCm39) |
Y388H |
probably benign |
Het |
| Vmn2r60 |
A |
T |
7: 41,844,578 (GRCm39) |
Q647L |
probably benign |
Het |
|
| Other mutations in Tmie |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
dinnerbell
|
UTSW |
9 |
110,699,749 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4582:Tmie
|
UTSW |
9 |
110,702,865 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4713:Tmie
|
UTSW |
9 |
110,696,596 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4900:Tmie
|
UTSW |
9 |
110,696,001 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6850:Tmie
|
UTSW |
9 |
110,695,980 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7142:Tmie
|
UTSW |
9 |
110,699,749 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7202:Tmie
|
UTSW |
9 |
110,696,632 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8029:Tmie
|
UTSW |
9 |
110,696,555 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9371:Tmie
|
UTSW |
9 |
110,696,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tmie
|
UTSW |
9 |
110,696,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation