Incidental Mutation 'R4582:Tmie'
ID 500011
Institutional Source Beutler Lab
Gene Symbol Tmie
Ensembl Gene ENSMUSG00000049555
Gene Name transmembrane inner ear
Synonyms 5131400L21Rik, Mm.87012
MMRRC Submission 041803-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R4582 (G1)
Quality Score 108
Status Not validated
Chromosome 9
Chromosomal Location 110694755-110709141 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 110702865 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 32 (E32A)
Ref Sequence ENSEMBL: ENSMUSP00000060148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050958]
AlphaFold Q8K467
Predicted Effect probably benign
Transcript: ENSMUST00000050958
AA Change: E32A

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000060148
Gene: ENSMUSG00000049555
AA Change: E32A

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abra A T 15: 41,732,681 (GRCm39) D128E probably benign Het
Akap11 A T 14: 78,749,369 (GRCm39) V1006E possibly damaging Het
Ankrd7 T A 6: 18,868,020 (GRCm39) N95K probably damaging Het
Brd9 T C 13: 74,095,852 (GRCm39) F366L probably benign Het
Brinp2 A G 1: 158,095,508 (GRCm39) F118L probably damaging Het
Ccdc138 T C 10: 58,343,465 (GRCm39) probably null Het
Celsr3 T C 9: 108,722,922 (GRCm39) F189L probably damaging Het
Cfap45 A G 1: 172,357,479 (GRCm39) T36A probably benign Het
Clec4a1 G T 6: 122,909,150 (GRCm39) V173L possibly damaging Het
Col6a5 G A 9: 105,739,963 (GRCm39) T2552I probably benign Het
Dcaf15 A G 8: 84,824,598 (GRCm39) V533A probably damaging Het
Dhrs9 A T 2: 69,227,997 (GRCm39) I204F probably damaging Het
Dock7 A G 4: 98,892,153 (GRCm39) V811A possibly damaging Het
Eef1akmt1 T C 14: 57,787,905 (GRCm39) D151G probably damaging Het
Eif4g3 G A 4: 137,898,556 (GRCm39) R1109H probably damaging Het
Gtpbp10 T C 5: 5,592,395 (GRCm39) T191A possibly damaging Het
Hectd4 A G 5: 121,424,482 (GRCm39) N714S possibly damaging Het
Lima1 T C 15: 99,678,873 (GRCm39) T523A possibly damaging Het
Lipe A G 7: 25,097,127 (GRCm39) L272P probably benign Het
Llgl2 A G 11: 115,741,532 (GRCm39) E554G possibly damaging Het
Lrrc66 T C 5: 73,765,580 (GRCm39) S488G possibly damaging Het
Man2a1 C T 17: 65,059,494 (GRCm39) A1127V probably benign Het
Naglu A T 11: 100,962,755 (GRCm39) I187F probably damaging Het
Nt5c1b T A 12: 10,440,054 (GRCm39) M548K probably damaging Het
Or10ak14 A T 4: 118,611,090 (GRCm39) I217N probably damaging Het
Or6c38 A T 10: 128,929,027 (GRCm39) V272E possibly damaging Het
Pcdha3 T C 18: 37,080,485 (GRCm39) V409A probably benign Het
Pde6b A T 5: 108,573,097 (GRCm39) probably null Het
Pkd2 A T 5: 104,650,210 (GRCm39) K857* probably null Het
Rfx4 T A 10: 84,680,164 (GRCm39) S114T possibly damaging Het
Sacs G A 14: 61,429,147 (GRCm39) G402D probably damaging Het
Slc22a5 C T 11: 53,782,035 (GRCm39) E111K probably damaging Het
Sptbn1 G A 11: 30,169,597 (GRCm39) R44C probably damaging Het
Taf1 T C X: 100,637,601 (GRCm39) V1696A possibly damaging Het
Tm9sf3 C A 19: 41,244,605 (GRCm39) G91C probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Tsga13 A T 6: 30,879,298 (GRCm39) N138K probably benign Het
Ttc7b G A 12: 100,466,376 (GRCm39) R79C probably damaging Het
Ugt1a10 A T 1: 87,983,463 (GRCm39) D87V possibly damaging Het
Vdac3-ps1 A T 13: 18,206,177 (GRCm39) noncoding transcript Het
Vmn1r29 A C 6: 58,285,017 (GRCm39) I246L probably damaging Het
Zbtb16 A G 9: 48,743,382 (GRCm39) V310A probably benign Het
Other mutations in Tmie
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02363:Tmie APN 9 110,699,821 (GRCm39) splice site probably benign
dinnerbell UTSW 9 110,699,749 (GRCm39) missense possibly damaging 0.95
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
Predicted Primers PCR Primer
(F):5'- TGAAGTCAGAGGCTGTGCTC -3'
(R):5'- AATGATGCGGACTCAACCTC -3'

Sequencing Primer
(F):5'- TCCGCCGTCAGACCAGTG -3'
(R):5'- AGCCAGAACTCTCCGCG -3'
Posted On 2017-11-30