Incidental Mutation 'IGL02245:Tmc1'
ID 286164
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmc1
Ensembl Gene ENSMUSG00000024749
Gene Name transmembrane channel-like gene family 1
Synonyms 4933416G09Rik, Beethoven, Bth
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock # IGL02245
Quality Score
Status
Chromosome 19
Chromosomal Location 20783458-20954202 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 20799192 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 601 (R601H)
Ref Sequence ENSEMBL: ENSMUSP00000040859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039500]
AlphaFold Q8R4P5
Predicted Effect probably damaging
Transcript: ENSMUST00000039500
AA Change: R601H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040859
Gene: ENSMUSG00000024749
AA Change: R601H

DomainStartEndE-ValueType
SCOP:d1eq1a_ 2 95 3e-3 SMART
low complexity region 129 150 N/A INTRINSIC
transmembrane domain 184 206 N/A INTRINSIC
transmembrane domain 265 287 N/A INTRINSIC
low complexity region 295 302 N/A INTRINSIC
transmembrane domain 357 379 N/A INTRINSIC
transmembrane domain 431 453 N/A INTRINSIC
Pfam:TMC 512 627 2.6e-36 PFAM
transmembrane domain 632 654 N/A INTRINSIC
transmembrane domain 693 715 N/A INTRINSIC
low complexity region 738 754 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 is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this gene is unknown; however, it is known to be required for normal function of cochlear hair cells. Mutations in this gene have been associated with progressive postlingual hearing loss and profound prelingual deafness. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutant mice are characterized by progressive degeneration of the cochlear inner hair cells and concomitant deafness. Different alleles causing progressive deafness or profound congenital deafness. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,659,815 I1398V probably benign Het
Abca5 G A 11: 110,298,169 Q821* probably null Het
Bcl9 A T 3: 97,208,693 L895Q probably damaging Het
Cpne7 A G 8: 123,117,618 D41G probably damaging Het
Daxx A G 17: 33,912,377 probably benign Het
Dbx2 A G 15: 95,624,747 Y360H probably damaging Het
Dpy19l2 T C 9: 24,696,025 T47A probably benign Het
Ephb3 T C 16: 21,221,424 V512A probably benign Het
Exoc2 T C 13: 30,906,859 D254G probably benign Het
Gtpbp1 G T 15: 79,690,926 R7L probably benign Het
Gucy2c A T 6: 136,729,203 I500N probably benign Het
Hist1h2ac A T 13: 23,683,800 Y40N probably damaging Het
Hist1h2ac G T 13: 23,683,801 N39K possibly damaging Het
Hormad2 T C 11: 4,408,580 probably benign Het
Impg2 A G 16: 56,269,082 Q1130R probably damaging Het
Itga4 T A 2: 79,320,559 D836E probably benign Het
Loxhd1 A T 18: 77,340,101 T456S possibly damaging Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Map1b T C 13: 99,431,528 T1562A unknown Het
Mre11a C T 9: 14,815,276 probably benign Het
Myh1 A C 11: 67,211,487 E868A possibly damaging Het
Nlrp4e T G 7: 23,320,875 S262R probably damaging Het
Nlrp9a C T 7: 26,557,893 T223I probably benign Het
Nosip A G 7: 45,074,042 D44G probably benign Het
Nr6a1 C T 2: 38,740,553 M217I probably benign Het
Numa1 A G 7: 102,000,394 T1111A probably benign Het
Olfr804 T A 10: 129,705,739 I287N probably damaging Het
Pms1 A G 1: 53,207,360 L340P probably damaging Het
Prmt7 T C 8: 106,237,305 V277A probably benign Het
Pxmp4 T C 2: 154,587,950 Y173C probably damaging Het
Rbm11 G T 16: 75,593,008 V21L possibly damaging Het
Rims1 A G 1: 22,346,488 S1123P probably damaging Het
Rnf220 C T 4: 117,299,537 probably benign Het
Rnf41 T G 10: 128,437,327 *123G probably null Het
Samhd1 C T 2: 157,110,555 D426N possibly damaging Het
Scn10a A G 9: 119,672,152 W189R probably damaging Het
Slco1a6 A G 6: 142,109,424 F265L probably damaging Het
Spag16 A G 1: 69,858,502 D137G probably benign Het
Srsf12 G A 4: 33,209,103 probably benign Het
Suclg2 A G 6: 95,595,741 I81T possibly damaging Het
Trim33 T C 3: 103,346,770 probably null Het
Vit A G 17: 78,625,051 D529G probably damaging Het
Wbp1l C T 19: 46,654,618 H353Y possibly damaging Het
Wdr70 A T 15: 8,046,482 V170D possibly damaging Het
Ythdc2 T A 18: 44,862,684 I947N possibly damaging Het
Zfp280b T C 10: 76,039,363 S359P probably benign Het
Zfp936 T C 7: 43,187,298 probably null Het
Zscan4d T A 7: 11,162,789 Y218F probably benign Het
Other mutations in Tmc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01639:Tmc1 APN 19 20816192 missense probably damaging 1.00
IGL02104:Tmc1 APN 19 20832454 missense probably benign 0.00
IGL02544:Tmc1 APN 19 20906963 missense probably benign 0.04
IGL02699:Tmc1 APN 19 20832350 critical splice donor site probably null
IGL02974:Tmc1 APN 19 20900844 missense probably benign
IGL03194:Tmc1 APN 19 20804653 missense probably damaging 1.00
dinner_bell UTSW 19 20795516 missense probably damaging 0.99
R0255:Tmc1 UTSW 19 20789587 missense possibly damaging 0.93
R0381:Tmc1 UTSW 19 20799045 missense probably damaging 1.00
R0655:Tmc1 UTSW 19 20799176 missense probably damaging 1.00
R1404:Tmc1 UTSW 19 20816184 missense possibly damaging 0.79
R1404:Tmc1 UTSW 19 20816184 missense possibly damaging 0.79
R1496:Tmc1 UTSW 19 20868355 missense probably damaging 1.00
R1542:Tmc1 UTSW 19 20816122 missense probably damaging 1.00
R1773:Tmc1 UTSW 19 20826501 splice site probably null
R1777:Tmc1 UTSW 19 20816109 critical splice donor site probably null
R2067:Tmc1 UTSW 19 20824309 missense possibly damaging 0.90
R2152:Tmc1 UTSW 19 20856675 missense probably benign 0.01
R2180:Tmc1 UTSW 19 20824084 missense probably damaging 0.96
R2204:Tmc1 UTSW 19 20940905 missense probably benign 0.01
R2205:Tmc1 UTSW 19 20940905 missense probably benign 0.01
R2285:Tmc1 UTSW 19 20789799 missense probably damaging 0.96
R4505:Tmc1 UTSW 19 20868374 missense probably benign 0.00
R4752:Tmc1 UTSW 19 20826649 missense probably benign 0.35
R4975:Tmc1 UTSW 19 20906955 missense probably damaging 0.96
R5040:Tmc1 UTSW 19 20824030 missense possibly damaging 0.68
R5206:Tmc1 UTSW 19 20826660 missense probably damaging 1.00
R5400:Tmc1 UTSW 19 20804602 missense probably damaging 1.00
R5429:Tmc1 UTSW 19 20789622 missense possibly damaging 0.72
R6200:Tmc1 UTSW 19 20789590 missense possibly damaging 0.53
R6784:Tmc1 UTSW 19 20827651 critical splice donor site probably null
R6796:Tmc1 UTSW 19 20799036 missense probably damaging 1.00
R6808:Tmc1 UTSW 19 20795516 missense probably damaging 0.99
R6812:Tmc1 UTSW 19 20900861 missense probably damaging 1.00
R6834:Tmc1 UTSW 19 20795610 nonsense probably null
R6978:Tmc1 UTSW 19 20804635 missense probably damaging 1.00
R6986:Tmc1 UTSW 19 20824283 missense probably benign 0.02
R7027:Tmc1 UTSW 19 20940903 critical splice donor site probably null
R7378:Tmc1 UTSW 19 20868389 missense probably damaging 0.98
R7520:Tmc1 UTSW 19 20799178 missense probably damaging 0.99
R7573:Tmc1 UTSW 19 20907008 missense probably damaging 0.98
R7825:Tmc1 UTSW 19 20804645 missense possibly damaging 0.55
R8024:Tmc1 UTSW 19 20900817 missense probably damaging 1.00
R8073:Tmc1 UTSW 19 20868361 missense probably benign 0.08
R8786:Tmc1 UTSW 19 20826589 missense probably damaging 1.00
R8791:Tmc1 UTSW 19 20789845 missense probably benign 0.00
R8969:Tmc1 UTSW 19 20816229 missense probably damaging 1.00
R8973:Tmc1 UTSW 19 20900851 missense probably benign
R9429:Tmc1 UTSW 19 20816184 missense possibly damaging 0.79
Z1176:Tmc1 UTSW 19 20826506 missense probably null 1.00
Z1177:Tmc1 UTSW 19 20795608 missense possibly damaging 0.47
Z1177:Tmc1 UTSW 19 20823982 missense probably damaging 1.00
Posted On 2015-04-16