Incidental Mutation 'IGL02363:Tmie'
ID290633
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmie
Ensembl Gene ENSMUSG00000049555
Gene Nametransmembrane inner ear
Synonyms5131400L21Rik, Mm.87012
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #IGL02363
Quality Score
Status
Chromosome9
Chromosomal Location110865711-110880113 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to T at 110870753 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000060148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050958]
Predicted Effect probably benign
Transcript: ENSMUST00000050958
SMART Domains Protein: ENSMUSP00000060148
Gene: ENSMUSG00000049555

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A T 15: 8,218,437 H1490L possibly damaging Het
Ak8 T C 2: 28,812,898 S425P probably damaging Het
Comt T C 16: 18,411,131 D153G probably benign Het
Exoc6 T C 19: 37,608,954 I601T probably damaging Het
F11 A T 8: 45,241,531 C598S probably damaging Het
Galnt13 G T 2: 55,112,860 D524Y probably damaging Het
Glb1l3 T C 9: 26,853,644 E157G probably damaging Het
Hc T C 2: 35,000,835 H1323R probably benign Het
Hsd3b5 T C 3: 98,630,105 I32V probably benign Het
Il6ra A G 3: 89,871,253 S430P probably benign Het
Lama2 G T 10: 27,366,066 T298K probably damaging Het
Nedd4l T C 18: 65,208,045 probably benign Het
Ntrk3 T C 7: 78,453,337 D405G probably benign Het
Opn5 T C 17: 42,557,491 D371G probably benign Het
Pcdh15 G T 10: 74,317,086 A408S probably damaging Het
Pim3 T C 15: 88,862,913 V54A probably benign Het
Prdm5 T C 6: 65,794,319 F38S probably damaging Het
Ptgs2 C T 1: 150,105,709 probably null Het
Rnf185 A G 11: 3,418,015 I221T possibly damaging Het
Slc27a2 T C 2: 126,578,950 F318L possibly damaging Het
Spata1 T C 3: 146,487,364 Y124C possibly damaging Het
Tph2 T C 10: 115,079,981 K429R probably benign Het
Usp32 A G 11: 85,044,787 Y388H probably benign Het
Vmn2r60 A T 7: 42,195,154 Q647L probably benign Het
Other mutations in Tmie
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4582:Tmie UTSW 9 110873797 missense probably benign 0.22
R4713:Tmie UTSW 9 110867528 missense probably damaging 0.99
R4900:Tmie UTSW 9 110866933 missense possibly damaging 0.69
R6850:Tmie UTSW 9 110866912 missense possibly damaging 0.68
R7142:Tmie UTSW 9 110870681 missense possibly damaging 0.95
R7202:Tmie UTSW 9 110867564 missense probably damaging 0.96
R8029:Tmie UTSW 9 110867487 missense possibly damaging 0.52
Z1177:Tmie UTSW 9 110867465 missense probably damaging 1.00
Posted On2015-04-16