Incidental Mutation 'IGL01094:Tmc2'
ID50488
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: 0.305) question?
Stock #IGL01094
Quality Score
Status
Chromosome2
Chromosomal Location130195194-130264445 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 130260166 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077988] [ENSMUST00000166774]
Predicted Effect probably benign
Transcript: ENSMUST00000077988
SMART Domains Protein: ENSMUSP00000077139
Gene: ENSMUSG00000060332

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 probably benign
Transcript: ENSMUST00000166774
SMART Domains Protein: ENSMUSP00000125843
Gene: ENSMUSG00000060332

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adss A T 1: 177,784,942 H80Q probably damaging Het
Ahi1 A G 10: 20,972,060 N456D probably damaging Het
Alpk2 T G 18: 65,306,602 E573D probably damaging Het
Axin2 G A 11: 108,923,675 V130M probably damaging Het
Cadm4 T C 7: 24,502,759 L341P possibly damaging Het
Col20a1 G A 2: 180,999,766 C625Y probably damaging Het
Col6a3 T G 1: 90,803,933 I1533L possibly damaging Het
Dusp10 A T 1: 184,037,500 probably null Het
Dysf T A 6: 84,194,386 I1837N probably damaging Het
Fbxw19 A G 9: 109,493,546 S119P probably benign Het
Gm10334 A G 6: 41,443,423 V123A possibly damaging Het
Il22ra1 C A 4: 135,751,084 P489T possibly damaging Het
Il7r A T 15: 9,507,999 N412K possibly damaging Het
Kdr A T 5: 75,961,760 Y502N probably benign Het
Med12l T A 3: 59,093,655 L713H probably damaging Het
Nfxl1 A G 5: 72,550,428 probably benign Het
Olfr1242 A G 2: 89,493,838 V158A probably benign Het
Piezo1 T A 8: 122,482,138 E2495D probably damaging Het
Pkhd1l1 T C 15: 44,546,929 F2611L probably benign Het
Pld2 T C 11: 70,541,306 C84R probably damaging Het
Scfd2 G T 5: 74,531,046 P192T possibly damaging Het
Tm4sf19 A G 16: 32,405,954 N40S possibly damaging Het
Tmem217 T C 17: 29,526,592 R55G probably benign Het
Unc80 A G 1: 66,695,433 D3205G possibly damaging Het
Vps13c A G 9: 67,886,284 N440D probably damaging Het
Wdr35 T C 12: 9,005,838 probably benign Het
Zfp110 T A 7: 12,849,796 H790Q probably 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
IGL01331:Tmc2 APN 2 130232356 missense probably damaging 1.00
IGL01660:Tmc2 APN 2 130260224 nonsense probably null
IGL01926:Tmc2 APN 2 130260240 missense possibly damaging 0.68
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 On2013-06-21