Incidental Mutation 'IGL02974:Tmc1'
ID 406287
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmc1
Ensembl Gene ENSMUSG00000024749
Gene Name transmembrane channel-like gene family 1
Synonyms Beethoven, Bth, 4933416G09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # IGL02974
Quality Score
Status
Chromosome 19
Chromosomal Location 20760822-20931566 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20878208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 96 (M96L)
Ref Sequence ENSEMBL: ENSMUSP00000040859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039500]
AlphaFold Q8R4P5
Predicted Effect probably benign
Transcript: ENSMUST00000039500
AA Change: M96L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000040859
Gene: ENSMUSG00000024749
AA Change: M96L

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730480H06Rik C T 5: 48,545,479 (GRCm39) T242M probably damaging Het
Abcg3 A T 5: 105,116,129 (GRCm39) I235N probably damaging Het
Agbl3 T C 6: 34,776,757 (GRCm39) L416S probably damaging Het
Alcam T C 16: 52,116,079 (GRCm39) D165G probably benign Het
Aldh18a1 T A 19: 40,557,528 (GRCm39) I341F probably damaging Het
Amn T C 12: 111,237,575 (GRCm39) V7A probably benign Het
Apc C T 18: 34,401,436 (GRCm39) probably benign Het
Arg2 T C 12: 79,197,566 (GRCm39) Y195H probably damaging Het
Bdp1 A T 13: 100,191,800 (GRCm39) M22K probably benign Het
Cacna1s T G 1: 136,020,355 (GRCm39) N797K possibly damaging Het
Chd8 T A 14: 52,439,158 (GRCm39) probably null Het
Clstn2 G A 9: 97,414,760 (GRCm39) T378M probably damaging Het
Elf2 A G 3: 51,165,110 (GRCm39) V298A probably damaging Het
Fbn1 C T 2: 125,188,250 (GRCm39) D1530N probably null Het
Fcrl2 A T 3: 87,164,704 (GRCm39) I274N possibly damaging Het
Fmo3 C T 1: 162,810,619 (GRCm39) E24K probably damaging Het
Fndc3b A T 3: 27,542,425 (GRCm39) N408K probably damaging Het
Foxn2 A T 17: 88,770,543 (GRCm39) N130I probably damaging Het
Fscb T A 12: 64,518,299 (GRCm39) I1056F unknown Het
Gimap5 A C 6: 48,730,311 (GRCm39) T294P possibly damaging Het
Gm20489 T C X: 100,307,320 (GRCm39) Q11R probably damaging Het
Gpr3 T C 4: 132,938,220 (GRCm39) T151A possibly damaging Het
Gzmc T A 14: 56,471,451 (GRCm39) H30L probably damaging Het
Ints6l C A X: 55,552,296 (GRCm39) S845Y probably benign Het
Iqcf3 A T 9: 106,430,844 (GRCm39) C101* probably null Het
Krt82 G A 15: 101,459,020 (GRCm39) Q7* probably null Het
L3mbtl1 A T 2: 162,812,103 (GRCm39) H716L possibly damaging Het
Lefty1 C A 1: 180,762,842 (GRCm39) H56Q probably benign Het
Lrp1 T C 10: 127,390,885 (GRCm39) Y3004C probably damaging Het
Lrp10 C A 14: 54,705,341 (GRCm39) S177* probably null Het
Naa15 A G 3: 51,368,628 (GRCm39) K576R possibly damaging Het
Naip2 A G 13: 100,298,186 (GRCm39) S617P probably damaging Het
Olfm1 T G 2: 28,119,701 (GRCm39) N445K probably damaging Het
Or4ac1-ps1 C T 2: 88,370,579 (GRCm39) silent Het
Or5b24 T G 19: 12,912,399 (GRCm39) V99G probably benign Het
Ostm1 T A 10: 42,559,158 (GRCm39) N139K probably damaging Het
Ovol1 A G 19: 5,601,177 (GRCm39) Y205H probably damaging Het
Pappa C T 4: 65,123,172 (GRCm39) L836F probably damaging Het
Pcdhb15 C A 18: 37,608,067 (GRCm39) T433N probably damaging Het
Ppfia2 A G 10: 106,636,637 (GRCm39) K229E probably benign Het
Ppm1b T A 17: 85,301,252 (GRCm39) V44E possibly damaging Het
Rapgef1 T C 2: 29,600,228 (GRCm39) F611L possibly damaging Het
Rev3l T A 10: 39,738,743 (GRCm39) Y2832* probably null Het
Robo1 T A 16: 72,803,750 (GRCm39) Y1099N probably benign Het
Sf3b1 T C 1: 55,046,866 (GRCm39) H226R probably benign Het
Slc26a4 C T 12: 31,579,553 (GRCm39) V570I probably damaging Het
Slc27a1 C A 8: 72,036,847 (GRCm39) A361D probably damaging Het
Srp68 T C 11: 116,137,051 (GRCm39) N549D probably benign Het
Terb1 G T 8: 105,221,600 (GRCm39) S202* probably null Het
Tmprss11d A G 5: 86,454,235 (GRCm39) V190A probably damaging Het
Ttll6 G A 11: 96,047,528 (GRCm39) C709Y probably benign Het
Uba1 A G X: 20,544,959 (GRCm39) H712R probably benign Het
Unc80 A C 1: 66,564,817 (GRCm39) T835P possibly damaging Het
Vmn2r14 G A 5: 109,369,292 (GRCm39) P94S possibly damaging Het
Yes1 C T 5: 32,818,112 (GRCm39) A383V probably 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
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
R0655:Tmc1 UTSW 19 20,776,540 (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
Posted On 2016-08-02