Incidental Mutation 'IGL03194:Tmc1'
ID412733
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmc1
Ensembl Gene ENSMUSG00000024749
Gene Nametransmembrane channel-like gene family 1
Synonyms4933416G09Rik, Beethoven, Bth
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #IGL03194
Quality Score
Status
Chromosome19
Chromosomal Location20783458-20954202 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 20804653 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 567 (E567G)
Ref Sequence ENSEMBL: ENSMUSP00000040859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039500]
Predicted Effect probably damaging
Transcript: ENSMUST00000039500
AA Change: E567G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040859
Gene: ENSMUSG00000024749
AA Change: E567G

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 T C 8: 83,734,018 S64G possibly damaging Het
Clcn7 T C 17: 25,150,548 V306A probably damaging Het
Clec4b2 G A 6: 123,200,987 G87D probably benign Het
Disp2 A T 2: 118,787,629 R219W probably damaging Het
Dstyk A T 1: 132,456,316 probably benign Het
F830045P16Rik T C 2: 129,460,320 S451G possibly damaging Het
Fam155a T C 8: 9,232,975 D358G probably damaging Het
Fat2 T A 11: 55,310,995 T418S probably benign Het
Fto G A 8: 91,409,787 D228N probably damaging Het
Gins4 A T 8: 23,234,746 probably benign Het
Gm10220 T A 5: 26,121,233 R40W probably damaging Het
Gm11149 G A 9: 49,546,346 probably benign Het
Gm5431 T G 11: 48,895,537 probably benign Het
Hebp1 A G 6: 135,155,192 M59T probably benign Het
Lrp1 A T 10: 127,568,685 V1989D probably damaging Het
Lrrc6 A T 15: 66,442,199 D317E probably benign Het
Ltc4s T C 11: 50,236,571 *151W probably null Het
Map3k21 A G 8: 125,924,062 T268A possibly damaging Het
Mdp1 A G 14: 55,658,987 L164P probably damaging Het
Mroh4 T C 15: 74,611,539 T650A probably damaging Het
Mss51 T C 14: 20,485,097 N202D probably benign Het
Mtus2 G A 5: 148,107,103 A834T probably damaging Het
Ncoa6 A G 2: 155,415,868 M585T possibly damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Npvf A C 6: 50,650,898 D180E possibly damaging Het
Nup188 A T 2: 30,304,334 Y173F possibly damaging Het
Oas3 C A 5: 120,758,953 A868S probably damaging Het
Pkhd1l1 A G 15: 44,518,135 T1086A probably damaging Het
Pla2g6 G A 15: 79,317,785 P62L probably damaging Het
Rara T C 11: 98,971,664 M297T possibly damaging Het
Tnxb C T 17: 34,695,947 Q1970* probably null Het
Usp11 T C X: 20,712,417 I162T probably benign Het
Utrn A G 10: 12,406,429 probably benign Het
Zfhx3 A G 8: 108,794,727 E827G probably damaging 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
IGL02245:Tmc1 APN 19 20799192 missense probably damaging 1.00
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
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
Posted On2016-08-02