Incidental Mutation 'IGL01926:Tmc2'
ID180304
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmc2
Ensembl Gene ENSMUSG00000060332
Gene Nametransmembrane channel-like gene family 2
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.348) question?
Stock #IGL01926
Quality Score
Status
Chromosome2
Chromosomal Location130195194-130264445 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 130260240 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 775 (I775T)
Ref Sequence ENSEMBL: ENSMUSP00000125843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077988] [ENSMUST00000166774]
Predicted Effect possibly damaging
Transcript: ENSMUST00000077988
AA Change: I775T

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000077139
Gene: ENSMUSG00000060332
AA Change: I775T

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000166774
AA Change: I775T

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000125843
Gene: ENSMUSG00000060332
AA Change: I775T

DomainStartEndE-ValueType
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 C T 11: 110,135,329 probably benign Het
Ano1 C T 7: 144,610,875 V671M possibly damaging Het
Atf7ip2 G T 16: 10,241,885 D430Y probably damaging Het
Atp7b A T 8: 22,011,781 D740E probably damaging Het
Bbs1 A C 19: 4,902,863 S191A probably benign Het
Capn5 C T 7: 98,128,472 probably null Het
Cyp2c40 A G 19: 39,802,655 I244T probably benign Het
Dsg1a G T 18: 20,333,584 D504Y possibly damaging Het
Eif3a T C 19: 60,769,961 D793G unknown Het
Exoc4 C A 6: 33,862,142 D704E probably damaging Het
Fmo5 A C 3: 97,637,481 T109P probably damaging Het
Ggt5 A G 10: 75,604,101 I179V probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Irs1 G T 1: 82,289,959 R179S probably damaging Het
Jmy A T 13: 93,459,786 V445E probably damaging Het
Jup C A 11: 100,383,586 V93F probably benign Het
Krt20 T C 11: 99,437,826 Y91C probably damaging Het
Mug2 T A 6: 122,036,104 probably benign Het
Mybpc3 C T 2: 91,135,407 T1188I possibly damaging Het
Myt1 T C 2: 181,821,997 L1032P probably benign Het
Naip6 A T 13: 100,300,196 N606K probably damaging Het
Nfrkb A T 9: 31,414,179 M973L probably benign Het
Olfr1109 C T 2: 87,092,974 C141Y probably damaging Het
Olfr1477 A T 19: 13,502,741 T133S possibly damaging Het
Parp8 T C 13: 116,862,302 probably benign Het
Plekha5 T A 6: 140,525,916 M131K probably benign Het
Pomt1 T A 2: 32,243,472 S207T probably benign Het
Prlr T A 15: 10,314,220 M1K probably null Het
Prr15 A G 6: 54,329,505 K83E probably damaging Het
Rnf4 A G 5: 34,346,779 N5S probably benign Het
Sel1l3 T A 5: 53,200,143 H169L probably benign Het
Slc24a5 A G 2: 125,068,903 I85V probably benign Het
Trnau1ap A T 4: 132,319,562 F141L probably benign Het
Zscan4d A G 7: 11,164,994 C119R probably damaging Het
Zswim9 A T 7: 13,260,321 V636D possibly damaging Het
Other mutations in Tmc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Tmc2 APN 2 130261304 missense possibly damaging 0.94
IGL00966:Tmc2 APN 2 130264012 missense probably benign 0.02
IGL01094:Tmc2 APN 2 130260166 splice site probably benign
IGL01331:Tmc2 APN 2 130232356 missense probably damaging 1.00
IGL01660:Tmc2 APN 2 130260224 nonsense probably null
IGL02150:Tmc2 APN 2 130240153 missense probably damaging 0.98
IGL02273:Tmc2 APN 2 130229206 missense probably damaging 0.99
IGL03137:Tmc2 APN 2 130240130 missense probably damaging 1.00
IGL03179:Tmc2 APN 2 130229187 missense probably damaging 1.00
FR4449:Tmc2 UTSW 2 130240196 missense probably damaging 1.00
H8786:Tmc2 UTSW 2 130226262 missense probably damaging 1.00
PIT4418001:Tmc2 UTSW 2 130248651 missense probably damaging 0.96
R0364:Tmc2 UTSW 2 130202103 missense probably benign 0.00
R1183:Tmc2 UTSW 2 130247976 missense probably damaging 1.00
R1446:Tmc2 UTSW 2 130248730 missense probably damaging 0.97
R1458:Tmc2 UTSW 2 130248762 missense probably damaging 1.00
R1589:Tmc2 UTSW 2 130247960 missense probably damaging 0.99
R1656:Tmc2 UTSW 2 130247934 missense possibly damaging 0.93
R1686:Tmc2 UTSW 2 130256116 missense possibly damaging 0.71
R1765:Tmc2 UTSW 2 130260225 missense probably benign 0.34
R1776:Tmc2 UTSW 2 130234869 missense probably damaging 1.00
R1873:Tmc2 UTSW 2 130248756 missense possibly damaging 0.68
R1972:Tmc2 UTSW 2 130214664 splice site probably benign
R2020:Tmc2 UTSW 2 130232385 missense probably damaging 1.00
R2208:Tmc2 UTSW 2 130214563 splice site probably null
R3968:Tmc2 UTSW 2 130202071 missense probably benign 0.02
R4732:Tmc2 UTSW 2 130261397 splice site probably null
R4733:Tmc2 UTSW 2 130261397 splice site probably null
R4989:Tmc2 UTSW 2 130202041 missense possibly damaging 0.88
R5143:Tmc2 UTSW 2 130234818 missense probably damaging 0.98
R5411:Tmc2 UTSW 2 130240115 missense probably damaging 1.00
R5514:Tmc2 UTSW 2 130241644 missense possibly damaging 0.94
R5690:Tmc2 UTSW 2 130232386 missense probably damaging 1.00
R5983:Tmc2 UTSW 2 130247976 missense probably damaging 1.00
R6451:Tmc2 UTSW 2 130264203 missense probably damaging 0.99
R6927:Tmc2 UTSW 2 130261380 missense probably benign
R7132:Tmc2 UTSW 2 130232409 missense possibly damaging 0.82
R7240:Tmc2 UTSW 2 130234804 missense possibly damaging 0.80
R7353:Tmc2 UTSW 2 130196577 critical splice donor site probably null
X0019:Tmc2 UTSW 2 130208285 missense possibly damaging 0.59
X0052:Tmc2 UTSW 2 130201972 missense probably benign 0.00
Z1177:Tmc2 UTSW 2 130208296 missense possibly damaging 0.56
Posted On2014-05-07