Incidental Mutation 'IGL02104:Tmc1'
ID 279886
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 # IGL02104
Quality Score
Status
Chromosome 19
Chromosomal Location 20760822-20931566 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 20809818 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 255 (D255N)
Ref Sequence ENSEMBL: ENSMUSP00000040859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039500]
AlphaFold Q8R4P5
Predicted Effect probably benign
Transcript: ENSMUST00000039500
AA Change: D255N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000040859
Gene: ENSMUSG00000024749
AA Change: D255N

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933440M02Rik T C 7: 124,930,714 (GRCm39) noncoding transcript Het
Abcb5 T A 12: 118,904,415 (GRCm39) Q125L probably damaging Het
Acap3 G A 4: 155,989,542 (GRCm39) R662H probably damaging Het
Aox4 T A 1: 58,275,816 (GRCm39) probably benign Het
Aqp6 T C 15: 99,502,159 (GRCm39) S285P probably benign Het
Arhgef5 A T 6: 43,249,345 (GRCm39) Q32L probably damaging Het
B3gnt6 G T 7: 97,843,308 (GRCm39) D217E probably damaging Het
Cfap251 T A 5: 123,440,761 (GRCm39) L1106* probably null Het
Chd6 T C 2: 160,819,432 (GRCm39) I1338V probably benign Het
Clic6 A G 16: 92,295,367 (GRCm39) E9G possibly damaging Het
Col11a1 T A 3: 113,975,046 (GRCm39) probably null Het
Dcdc2b T A 4: 129,504,867 (GRCm39) D88V probably benign Het
Dis3l T A 9: 64,217,611 (GRCm39) K791N possibly damaging Het
Dmxl2 A T 9: 54,311,299 (GRCm39) Y1008* probably null Het
Dnah11 A G 12: 118,156,125 (GRCm39) V175A probably benign Het
Efl1 A G 7: 82,307,263 (GRCm39) probably null Het
Fam117b C T 1: 59,988,278 (GRCm39) T219I probably benign Het
Fgf21 T A 7: 45,264,648 (GRCm39) Q28L probably benign Het
Folh1 T C 7: 86,393,638 (GRCm39) Q391R possibly damaging Het
Gars1 A G 6: 55,054,682 (GRCm39) D663G probably damaging Het
Lats2 A G 14: 57,971,469 (GRCm39) F69L probably damaging Het
Lrp2 C T 2: 69,340,762 (GRCm39) V1038M probably damaging Het
Map3k1 A T 13: 111,892,777 (GRCm39) V826E probably damaging Het
Mapkap1 T A 2: 34,513,482 (GRCm39) Y497* probably null Het
Mast3 T C 8: 71,240,550 (GRCm39) I296V possibly damaging Het
Mon1a T G 9: 107,778,814 (GRCm39) L346R probably damaging Het
Mphosph8 T C 14: 56,912,036 (GRCm39) L353S probably benign Het
Muc5ac T C 7: 141,364,815 (GRCm39) Y2634H probably damaging Het
Mylk A G 16: 34,635,805 (GRCm39) T9A probably benign Het
Or10j2 T C 1: 173,098,603 (GRCm39) V287A probably damaging Het
Or14j8 A C 17: 38,263,182 (GRCm39) H244Q probably damaging Het
Or55b3 C A 7: 102,126,544 (GRCm39) V178F probably damaging Het
Or5an6 T A 19: 12,372,263 (GRCm39) V212D probably damaging Het
Or5b122 T A 19: 13,562,968 (GRCm39) M57K probably damaging Het
Or5m8 G T 2: 85,822,730 (GRCm39) D190Y probably damaging Het
Or7g25 A T 9: 19,160,166 (GRCm39) H176Q probably benign Het
Pabpc2 A C 18: 39,907,936 (GRCm39) Q400H possibly damaging Het
Pigg A G 5: 108,489,963 (GRCm39) Y856C probably damaging Het
Plekhn1 A T 4: 156,306,865 (GRCm39) V508E probably benign Het
Pom121l2 C A 13: 22,166,445 (GRCm39) H239N possibly damaging Het
Prdm2 A G 4: 142,859,997 (GRCm39) S1098P probably benign Het
Rnf212 A G 5: 108,895,306 (GRCm39) I41T possibly damaging Het
Rngtt A G 4: 33,320,517 (GRCm39) probably null Het
Rpn2 C T 2: 157,163,747 (GRCm39) T613M probably damaging Het
Scd4 G T 19: 44,333,186 (GRCm39) V304F possibly damaging Het
Sez6l A G 5: 112,574,630 (GRCm39) probably benign Het
Shroom3 A G 5: 93,088,248 (GRCm39) R158G probably benign Het
Stil T C 4: 114,898,679 (GRCm39) L1103P probably damaging Het
Tanc2 T C 11: 105,670,959 (GRCm39) probably benign Het
Trank1 C A 9: 111,219,780 (GRCm39) D2172E possibly damaging Het
Tyro3 G A 2: 119,643,681 (GRCm39) R718H probably damaging Het
Vamp2 C A 11: 68,981,483 (GRCm39) F114L probably benign Het
Other mutations in Tmc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01639:Tmc1 APN 19 20,793,556 (GRCm39) missense probably damaging 1.00
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
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 2015-04-16