Incidental Mutation 'R9371:Tmie'
ID 709319
Institutional Source Beutler Lab
Gene Symbol Tmie
Ensembl Gene ENSMUSG00000049555
Gene Name transmembrane inner ear
Synonyms 5131400L21Rik, Mm.87012
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R9371 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 110694755-110709141 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 110696651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 77 (C77S)
Ref Sequence ENSEMBL: ENSMUSP00000060148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050958] [ENSMUST00000051097]
AlphaFold Q8K467
Predicted Effect probably damaging
Transcript: ENSMUST00000050958
AA Change: C77S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060148
Gene: ENSMUSG00000049555
AA Change: C77S

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 probably benign
Transcript: ENSMUST00000051097
SMART Domains Protein: ENSMUSP00000059668
Gene: ENSMUSG00000048752

DomainStartEndE-ValueType
signal peptide 1 47 N/A INTRINSIC
low complexity region 112 127 N/A INTRINSIC
Tryp_SPc 172 407 2.87e-43 SMART
low complexity region 425 439 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196027
Meta Mutation Damage Score 0.5219 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (56/56)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik T C 6: 40,943,663 (GRCm39) I109T probably damaging Het
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 28,947,048 (GRCm39) probably benign Het
Abca8b T G 11: 109,858,498 (GRCm39) Q568P probably damaging Het
Add3 A G 19: 53,221,499 (GRCm39) T204A probably damaging Het
Afg3l2 C A 18: 67,567,262 (GRCm39) R196L possibly damaging Het
Agps T A 2: 75,742,024 (GRCm39) probably null Het
Akap9 A G 5: 4,011,852 (GRCm39) S852G possibly damaging Het
Aoc1 A G 6: 48,883,102 (GRCm39) D326G probably benign Het
Cecr2 A G 6: 120,739,229 (GRCm39) T1319A probably benign Het
Cenpo C T 12: 4,266,686 (GRCm39) V141I probably benign Het
Clca4b A G 3: 144,631,845 (GRCm39) L220S possibly damaging Het
Dicer1 A G 12: 104,670,991 (GRCm39) L1017P probably damaging Het
Ero1b T G 13: 12,589,728 (GRCm39) C44G probably damaging Het
Ffar2 A T 7: 30,518,929 (GRCm39) W204R probably benign Het
Fmo3 T A 1: 162,796,281 (GRCm39) E97V probably benign Het
Gcnt4 G T 13: 97,083,634 (GRCm39) R310L possibly damaging Het
Gm7298 A G 6: 121,744,541 (GRCm39) I520V probably benign Het
Gmpr T C 13: 45,699,471 (GRCm39) L327P probably damaging Het
Grid2 T A 6: 64,677,506 (GRCm39) H108Q unknown Het
Hmcn2 G T 2: 31,301,917 (GRCm39) L2935F probably damaging Het
Hnf1b T C 11: 83,779,986 (GRCm39) S440P probably benign Het
Hsph1 A T 5: 149,543,395 (GRCm39) Y644N probably damaging Het
Igf2r A G 17: 12,924,646 (GRCm39) I1057T possibly damaging Het
Igfn1 T C 1: 135,906,001 (GRCm39) E269G probably damaging Het
Igkv14-126 A G 6: 67,873,352 (GRCm39) T27A possibly damaging Het
Inhca A T 9: 103,158,252 (GRCm39) Y103N probably benign Het
Kcnj15 A G 16: 95,097,556 (GRCm39) R393G unknown Het
Lamb1 A G 12: 31,348,863 (GRCm39) T632A probably damaging Het
Lrrk2 T C 15: 91,607,407 (GRCm39) L590P probably damaging Het
Mrm3 A G 11: 76,138,286 (GRCm39) T225A possibly damaging Het
Mthfd1l A G 10: 4,053,335 (GRCm39) T895A possibly damaging Het
Myh1 G A 11: 67,110,631 (GRCm39) probably null Het
Naip2 T A 13: 100,298,354 (GRCm39) K561* probably null Het
Necab2 C T 8: 120,173,923 (GRCm39) P44S probably benign Het
Nrde2 T C 12: 100,092,477 (GRCm39) S1126G probably benign Het
Nup210l C T 3: 90,107,173 (GRCm39) P1570L probably benign Het
Or14j6 A G 17: 38,214,962 (GRCm39) H175R probably benign Het
Or8c17 T A 9: 38,179,926 (GRCm39) V31E possibly damaging Het
Pecam1 T G 11: 106,581,947 (GRCm39) D333A probably benign Het
Prss27 T C 17: 24,257,141 (GRCm39) probably benign Het
Rapgef2 T C 3: 79,082,300 (GRCm39) E100G probably damaging Het
Rnft2 A G 5: 118,340,982 (GRCm39) F299L probably damaging Het
Rptor A G 11: 119,562,152 (GRCm39) N105S possibly damaging Het
S100a7l2 T C 3: 90,997,698 (GRCm39) T6A unknown Het
Scgb2b3 T A 7: 31,059,642 (GRCm39) H44L probably benign Het
Slc22a17 A T 14: 55,147,139 (GRCm39) V53D possibly damaging Het
Slc39a14 G A 14: 70,547,569 (GRCm39) T298M probably benign Het
Sorbs1 G A 19: 40,315,324 (GRCm39) T496M probably damaging Het
Spata31e1 G C 13: 49,939,052 (GRCm39) T886S unknown Het
Taar8a T C 10: 23,952,753 (GRCm39) V119A probably benign Het
Tas1r3 T C 4: 155,945,059 (GRCm39) T721A possibly damaging Het
Tm7sf3 C T 6: 146,525,179 (GRCm39) D89N possibly damaging Het
Tpp2 T A 1: 43,999,369 (GRCm39) I381K probably damaging Het
Ttn G C 2: 76,776,822 (GRCm39) A1526G unknown Het
Vmn2r12 T A 5: 109,234,452 (GRCm39) M587L probably benign Het
Zeb2 G T 2: 44,888,912 (GRCm39) H344Q probably damaging Het
Zfp292 A G 4: 34,810,800 (GRCm39) I753T probably damaging Het
Zfp442 A T 2: 150,250,676 (GRCm39) C409S unknown Het
Zfp677 C T 17: 21,618,053 (GRCm39) T370M probably damaging Het
Zfp947 G A 17: 22,364,384 (GRCm39) T430I possibly damaging 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
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
Z1177:Tmie UTSW 9 110,696,533 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGGCAGACACAGGTTCAATTG -3'
(R):5'- ACGTGCATCTGTGTAAAGTCAG -3'

Sequencing Primer
(F):5'- TTCAATTGGAACAGTGGGAGTG -3'
(R):5'- GCATCTGTGTAAAGTCAGATTTTGCC -3'
Posted On 2022-04-18