Incidental Mutation 'R0655:Tmc1'
ID 62531
Institutional Source Beutler Lab
Gene Symbol Tmc1
Ensembl Gene ENSMUSG00000024749
Gene Name transmembrane channel-like gene family 1
Synonyms Beethoven, Bth, 4933416G09Rik
MMRRC Submission 038840-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # R0655 (G1)
Quality Score 194
Status Not validated
Chromosome 19
Chromosomal Location 20760822-20931566 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 20776540 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 606 (M606I)
Ref Sequence ENSEMBL: ENSMUSP00000040859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039500]
AlphaFold Q8R4P5
Predicted Effect probably damaging
Transcript: ENSMUST00000039500
AA Change: M606I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040859
Gene: ENSMUSG00000024749
AA Change: M606I

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
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.7%
  • 20x: 95.8%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 G C 17: 36,268,737 (GRCm39) I757M probably benign Het
Abtb3 A G 10: 85,481,390 (GRCm39) T931A probably damaging Het
Atg16l1 T A 1: 87,694,551 (GRCm39) I76N probably damaging Het
Baz1b T A 5: 135,271,284 (GRCm39) I1289N probably benign Het
Bcl2l15 T A 3: 103,740,285 (GRCm39) probably null Het
Cbl G T 9: 44,070,049 (GRCm39) T566K probably damaging Het
Cd96 T C 16: 45,919,482 (GRCm39) K180E probably benign Het
Cpxm2 G A 7: 131,656,549 (GRCm39) T571I possibly damaging Het
Cyp2a12 A T 7: 26,736,046 (GRCm39) Y485F probably benign Het
Cyp4f17 T A 17: 32,743,871 (GRCm39) Y350N possibly damaging Het
Dstn T A 2: 143,780,342 (GRCm39) I14N probably damaging Het
Eea1 A G 10: 95,831,460 (GRCm39) S184G probably benign Het
Eif1a G T 18: 46,741,130 (GRCm39) G122C probably damaging Het
Esf1 T A 2: 139,990,799 (GRCm39) T562S probably benign Het
Fem1c G A 18: 46,638,227 (GRCm39) R592C probably benign Het
Fig4 T C 10: 41,161,673 (GRCm39) N30S probably damaging Het
Gria2 C A 3: 80,639,377 (GRCm39) E212* probably null Het
Gsdmc2 C T 15: 63,699,622 (GRCm39) A269T probably benign Het
Herc4 T C 10: 63,109,350 (GRCm39) V195A probably benign Het
Hivep1 T C 13: 42,321,061 (GRCm39) S2123P probably damaging Het
Hspa4 T C 11: 53,160,519 (GRCm39) E519G probably benign Het
Htr2b A G 1: 86,038,565 (GRCm39) S14P probably benign Het
Ifit1 T C 19: 34,625,047 (GRCm39) V61A probably damaging Het
Ifitm1 C A 7: 140,549,449 (GRCm39) F77L probably benign Het
Matn2 T C 15: 34,345,346 (GRCm39) S118P probably benign Het
Mtmr3 C A 11: 4,438,610 (GRCm39) D615Y probably damaging Het
Mtss1 C A 15: 58,953,351 (GRCm39) C9F probably damaging Het
Muc5b A T 7: 141,417,679 (GRCm39) I3542F probably benign Het
Nwd2 T C 5: 63,948,928 (GRCm39) S167P possibly damaging Het
Or1e34 T C 11: 73,778,631 (GRCm39) D189G possibly damaging Het
Or2ag1b A T 7: 106,288,632 (GRCm39) F102Y probably damaging Het
Or8b54 C T 9: 38,686,850 (GRCm39) Q100* probably null Het
Oscp1 T C 4: 125,952,526 (GRCm39) L18P probably damaging Het
Pax5 A G 4: 44,537,462 (GRCm39) S297P probably damaging Het
Phldb3 A T 7: 24,323,797 (GRCm39) D476V probably benign Het
Phlpp2 A T 8: 110,622,219 (GRCm39) I154L probably benign Het
Prx T A 7: 27,216,846 (GRCm39) V449E probably damaging Het
Psd3 A G 8: 68,416,341 (GRCm39) S519P probably benign Het
Rnf138 T G 18: 21,143,840 (GRCm39) V128G probably benign Het
Safb T A 17: 56,904,803 (GRCm39) S209T probably benign Het
Sbno1 C A 5: 124,514,212 (GRCm39) V1327L possibly damaging Het
Scarb1 A G 5: 125,377,504 (GRCm39) V176A probably damaging Het
Scd4 A G 19: 44,327,407 (GRCm39) H161R possibly damaging Het
Selenoo T A 15: 88,979,858 (GRCm39) H335Q probably damaging Het
Slfn8 A G 11: 82,894,647 (GRCm39) F664S probably benign Het
Spef2 T C 15: 9,626,217 (GRCm39) I1116M possibly damaging Het
Taf2 G A 15: 54,901,690 (GRCm39) R835W probably damaging Het
Tdrd9 A G 12: 112,006,899 (GRCm39) E921G probably damaging Het
Tectb G A 19: 55,178,302 (GRCm39) G234S possibly damaging Het
Tmed10 T A 12: 85,390,291 (GRCm39) I88F probably damaging Het
Tnfrsf11a G A 1: 105,735,880 (GRCm39) V31I unknown Het
Trp53inp2 G T 2: 155,228,088 (GRCm39) G98* probably null Het
Tssc4 A G 7: 142,623,782 (GRCm39) D30G probably damaging Het
Uaca T C 9: 60,779,311 (GRCm39) Y1233H probably benign Het
Unc13c G A 9: 73,838,235 (GRCm39) T872I probably damaging Het
Unc80 A G 1: 66,542,940 (GRCm39) H398R probably damaging Het
Vmn1r64 G A 7: 5,887,207 (GRCm39) T112I probably benign Het
Vmn1r85 A G 7: 12,818,650 (GRCm39) Y165H probably damaging Het
Vmn2r72 A T 7: 85,387,319 (GRCm39) C748* probably null Het
Wdr17 A G 8: 55,102,233 (GRCm39) W929R probably damaging Het
Yeats2 A T 16: 20,012,574 (GRCm39) K591* probably null Het
Zbtb9 T A 17: 27,193,074 (GRCm39) S160T probably damaging Het
Znfx1 T A 2: 166,898,827 (GRCm39) R32S probably damaging Het
Zng1 T C 19: 24,930,684 (GRCm39) M122V possibly damaging Het
Other mutations in Tmc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01639:Tmc1 APN 19 20,793,556 (GRCm39) missense probably damaging 1.00
IGL02104:Tmc1 APN 19 20,809,818 (GRCm39) missense probably benign 0.00
IGL02245:Tmc1 APN 19 20,776,556 (GRCm39) missense probably damaging 1.00
IGL02544:Tmc1 APN 19 20,884,327 (GRCm39) missense probably benign 0.04
IGL02699:Tmc1 APN 19 20,809,714 (GRCm39) critical splice donor site probably null
IGL02974:Tmc1 APN 19 20,878,208 (GRCm39) missense probably benign
IGL03194:Tmc1 APN 19 20,782,017 (GRCm39) missense probably damaging 1.00
dinner_bell UTSW 19 20,772,880 (GRCm39) missense probably damaging 0.99
R0255:Tmc1 UTSW 19 20,766,951 (GRCm39) missense possibly damaging 0.93
R0381:Tmc1 UTSW 19 20,776,409 (GRCm39) missense probably damaging 1.00
R1404:Tmc1 UTSW 19 20,793,548 (GRCm39) missense possibly damaging 0.79
R1404:Tmc1 UTSW 19 20,793,548 (GRCm39) missense possibly damaging 0.79
R1496:Tmc1 UTSW 19 20,845,719 (GRCm39) missense probably damaging 1.00
R1542:Tmc1 UTSW 19 20,793,486 (GRCm39) missense probably damaging 1.00
R1773:Tmc1 UTSW 19 20,803,865 (GRCm39) splice site probably null
R1777:Tmc1 UTSW 19 20,793,473 (GRCm39) critical splice donor site probably null
R2067:Tmc1 UTSW 19 20,801,673 (GRCm39) missense possibly damaging 0.90
R2152:Tmc1 UTSW 19 20,834,039 (GRCm39) missense probably benign 0.01
R2180:Tmc1 UTSW 19 20,801,448 (GRCm39) missense probably damaging 0.96
R2204:Tmc1 UTSW 19 20,918,269 (GRCm39) missense probably benign 0.01
R2205:Tmc1 UTSW 19 20,918,269 (GRCm39) missense probably benign 0.01
R2285:Tmc1 UTSW 19 20,767,163 (GRCm39) missense probably damaging 0.96
R4505:Tmc1 UTSW 19 20,845,738 (GRCm39) missense probably benign 0.00
R4752:Tmc1 UTSW 19 20,804,013 (GRCm39) missense probably benign 0.35
R4975:Tmc1 UTSW 19 20,884,319 (GRCm39) missense probably damaging 0.96
R5040:Tmc1 UTSW 19 20,801,394 (GRCm39) missense possibly damaging 0.68
R5206:Tmc1 UTSW 19 20,804,024 (GRCm39) missense probably damaging 1.00
R5400:Tmc1 UTSW 19 20,781,966 (GRCm39) missense probably damaging 1.00
R5429:Tmc1 UTSW 19 20,766,986 (GRCm39) missense possibly damaging 0.72
R6200:Tmc1 UTSW 19 20,766,954 (GRCm39) missense possibly damaging 0.53
R6784:Tmc1 UTSW 19 20,805,015 (GRCm39) critical splice donor site probably null
R6796:Tmc1 UTSW 19 20,776,400 (GRCm39) missense probably damaging 1.00
R6808:Tmc1 UTSW 19 20,772,880 (GRCm39) missense probably damaging 0.99
R6812:Tmc1 UTSW 19 20,878,225 (GRCm39) missense probably damaging 1.00
R6834:Tmc1 UTSW 19 20,772,974 (GRCm39) nonsense probably null
R6978:Tmc1 UTSW 19 20,781,999 (GRCm39) missense probably damaging 1.00
R6986:Tmc1 UTSW 19 20,801,647 (GRCm39) missense probably benign 0.02
R7027:Tmc1 UTSW 19 20,918,267 (GRCm39) critical splice donor site probably null
R7378:Tmc1 UTSW 19 20,845,753 (GRCm39) missense probably damaging 0.98
R7520:Tmc1 UTSW 19 20,776,542 (GRCm39) missense probably damaging 0.99
R7573:Tmc1 UTSW 19 20,884,372 (GRCm39) missense probably damaging 0.98
R7825:Tmc1 UTSW 19 20,782,009 (GRCm39) missense possibly damaging 0.55
R8024:Tmc1 UTSW 19 20,878,181 (GRCm39) missense probably damaging 1.00
R8073:Tmc1 UTSW 19 20,845,725 (GRCm39) missense probably benign 0.08
R8786:Tmc1 UTSW 19 20,803,953 (GRCm39) missense probably damaging 1.00
R8791:Tmc1 UTSW 19 20,767,209 (GRCm39) missense probably benign 0.00
R8969:Tmc1 UTSW 19 20,793,593 (GRCm39) missense probably damaging 1.00
R8973:Tmc1 UTSW 19 20,878,215 (GRCm39) missense probably benign
R9429:Tmc1 UTSW 19 20,793,548 (GRCm39) missense possibly damaging 0.79
R9493:Tmc1 UTSW 19 20,801,644 (GRCm39) missense probably benign 0.00
Z1176:Tmc1 UTSW 19 20,803,870 (GRCm39) missense probably null 1.00
Z1177:Tmc1 UTSW 19 20,801,346 (GRCm39) missense probably damaging 1.00
Z1177:Tmc1 UTSW 19 20,772,972 (GRCm39) missense possibly damaging 0.47
Predicted Primers PCR Primer
(F):5'- GCCCACAATCAAAAGATGGCGG -3'
(R):5'- ACAGGATGCAAGCCCTTAAAGGTC -3'

Sequencing Primer
(F):5'- GGAGGGAGACGATCATGTACAG -3'
(R):5'- CAAGCCCTTAAAGGTCTGTCATTTG -3'
Posted On 2013-07-30