Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01660:Tmc2'

103131

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmc2

Ensembl Gene

ENSMUSG00000060332

Gene Name

transmembrane channel-like gene family 2

Synonyms

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.337) question?

Stock #

IGL01660

Quality Score

Status

Chromosome

Chromosomal Location

130195194-130264445 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 130260224 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 770 (Q770*)

Ref Sequence

ENSEMBL: ENSMUSP00000125843 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077988] [ENSMUST00000166774]

Predicted Effect

probably null
Transcript: ENSMUST00000077988
AA Change: Q770*

SMART Domains

Protein: ENSMUSP00000077139
Gene: ENSMUSG00000060332
AA Change: Q770*

Domain	Start	End	E-Value	Type
transmembrane domain	236	258	N/A	INTRINSIC
transmembrane domain	317	339	N/A	INTRINSIC
transmembrane domain	412	434	N/A	INTRINSIC
transmembrane domain	488	507	N/A	INTRINSIC
low complexity region	541	553	N/A	INTRINSIC
Pfam:TMC	556	671	8.6e-41	PFAM
transmembrane domain	676	698	N/A	INTRINSIC
transmembrane domain	735	757	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000166774
AA Change: Q770*

SMART Domains

Protein: ENSMUSP00000125843
Gene: ENSMUSG00000060332
AA Change: Q770*

Domain	Start	End	E-Value	Type
transmembrane domain	236	258	N/A	INTRINSIC
transmembrane domain	317	339	N/A	INTRINSIC
transmembrane domain	412	434	N/A	INTRINSIC
transmembrane domain	488	507	N/A	INTRINSIC
low complexity region	541	553	N/A	INTRINSIC
Pfam:TMC	556	671	1.2e-36	PFAM
transmembrane domain	676	698	N/A	INTRINSIC
transmembrane domain	735	757	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 encodes a transmembrane protein that is necesssary for mechanotransduction in cochlear hair cells of the inner ear. Mutations in this gene may underlie hereditary disorders of balance and hearing. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a null allele display normal hearing and motor behavior. Cochlear hair cells show partial resistance to gentamicin induced toxicity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130011E15Rik	A	T	19: 45,940,476	L393H	probably damaging	Het
Acta2	A	G	19: 34,251,791	I66T	probably damaging	Het
Actl11	T	C	9: 107,929,048	V190A	probably benign	Het
Ankub1	T	A	3: 57,690,396	Y51F	possibly damaging	Het
Ccdc63	G	A	5: 122,110,964	S434L	possibly damaging	Het
Cdan1	T	A	2: 120,725,653	I711F	possibly damaging	Het
Cep170b	C	A	12: 112,744,160	N1474K	probably damaging	Het
Cyp2c40	A	G	19: 39,786,810	S333P	probably damaging	Het
Dars	A	G	1: 128,415,344		probably benign	Het
Dock3	T	A	9: 107,032,364		probably benign	Het
Dsp	A	G	13: 38,176,495	I359V	possibly damaging	Het
Fut8	T	G	12: 77,450,258	L414*	probably null	Het
Gja1	A	G	10: 56,388,448	Y301C	probably damaging	Het
Glipr1l1	T	C	10: 112,072,279	S161P	probably damaging	Het
Gpat4	A	T	8: 23,175,338		probably null	Het
Grhl1	T	A	12: 24,608,578		probably null	Het
Hectd3	T	C	4: 116,996,372	V181A	possibly damaging	Het
Htr2a	T	A	14: 74,705,754	I258N	probably damaging	Het
Hyou1	T	A	9: 44,381,117	D83E	possibly damaging	Het
Myh10	T	A	11: 68,785,889	L862Q	probably benign	Het
Nkx2-2	T	C	2: 147,185,913	S36G	probably benign	Het
Nsun2	T	A	13: 69,623,249	V326E	probably benign	Het
Nuak2	T	C	1: 132,331,570	V362A	probably benign	Het
Nyap2	G	A	1: 81,191,927	C133Y	probably damaging	Het
Oas2	T	C	5: 120,741,223	T351A	probably benign	Het
Olfr1025-ps1	T	C	2: 85,918,564	I213T	probably benign	Het
Olfr279	C	T	15: 98,498,195	T241I	probably damaging	Het
Pde4d	A	T	13: 109,938,072	I404F	probably damaging	Het
Pga5	A	G	19: 10,675,092	S95P	probably damaging	Het
Pitpnm2	A	T	5: 124,123,194	D947E	probably damaging	Het
Pla2g10	C	T	16: 13,728,086	R28H	probably damaging	Het
Prlr	A	G	15: 10,317,590	D84G	probably damaging	Het
Rbm15b	C	T	9: 106,885,709	G420D	probably damaging	Het
Tbcd	A	G	11: 121,605,327	T1063A	probably benign	Het
Tpo	T	C	12: 30,119,400		probably benign	Het
Vim	A	G	2: 13,574,813	N128D	probably damaging	Het
Vmn1r21	A	T	6: 57,844,237	I74N	probably damaging	Het
Vmn2r52	A	C	7: 10,159,180	I677M	probably damaging	Het

Other mutations in Tmc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Tmc2	APN	2	130261304	missense	possibly damaging	0.94
IGL00966:Tmc2	APN	2	130264012	missense	probably benign	0.02
IGL01094:Tmc2	APN	2	130260166	splice site	probably benign
IGL01331:Tmc2	APN	2	130232356	missense	probably damaging	1.00
IGL01926:Tmc2	APN	2	130260240	missense	possibly damaging	0.68
IGL02150:Tmc2	APN	2	130240153	missense	probably damaging	0.98
IGL02273:Tmc2	APN	2	130229206	missense	probably damaging	0.99
IGL03137:Tmc2	APN	2	130240130	missense	probably damaging	1.00
IGL03179:Tmc2	APN	2	130229187	missense	probably damaging	1.00
FR4449:Tmc2	UTSW	2	130240196	missense	probably damaging	1.00
H8786:Tmc2	UTSW	2	130226262	missense	probably damaging	1.00
PIT4418001:Tmc2	UTSW	2	130248651	missense	probably damaging	0.96
R0364:Tmc2	UTSW	2	130202103	missense	probably benign	0.00
R1183:Tmc2	UTSW	2	130247976	missense	probably damaging	1.00
R1446:Tmc2	UTSW	2	130248730	missense	probably damaging	0.97
R1458:Tmc2	UTSW	2	130248762	missense	probably damaging	1.00
R1589:Tmc2	UTSW	2	130247960	missense	probably damaging	0.99
R1656:Tmc2	UTSW	2	130247934	missense	possibly damaging	0.93
R1686:Tmc2	UTSW	2	130256116	missense	possibly damaging	0.71
R1765:Tmc2	UTSW	2	130260225	missense	probably benign	0.34
R1776:Tmc2	UTSW	2	130234869	missense	probably damaging	1.00
R1873:Tmc2	UTSW	2	130248756	missense	possibly damaging	0.68
R1972:Tmc2	UTSW	2	130214664	splice site	probably benign
R2020:Tmc2	UTSW	2	130232385	missense	probably damaging	1.00
R2208:Tmc2	UTSW	2	130214563	splice site	probably null
R3968:Tmc2	UTSW	2	130202071	missense	probably benign	0.02
R4732:Tmc2	UTSW	2	130261397	splice site	probably null
R4733:Tmc2	UTSW	2	130261397	splice site	probably null
R4989:Tmc2	UTSW	2	130202041	missense	possibly damaging	0.88
R5143:Tmc2	UTSW	2	130234818	missense	probably damaging	0.98
R5411:Tmc2	UTSW	2	130240115	missense	probably damaging	1.00
R5514:Tmc2	UTSW	2	130241644	missense	possibly damaging	0.94
R5690:Tmc2	UTSW	2	130232386	missense	probably damaging	1.00
R5983:Tmc2	UTSW	2	130247976	missense	probably damaging	1.00
R6451:Tmc2	UTSW	2	130264203	missense	probably damaging	0.99
R6927:Tmc2	UTSW	2	130261380	missense	probably benign
R7132:Tmc2	UTSW	2	130232409	missense	possibly damaging	0.82
R7240:Tmc2	UTSW	2	130234804	missense	possibly damaging	0.80
R7353:Tmc2	UTSW	2	130196577	critical splice donor site	probably null
X0019:Tmc2	UTSW	2	130208285	missense	possibly damaging	0.59
X0052:Tmc2	UTSW	2	130201972	missense	probably benign	0.00
Z1177:Tmc2	UTSW	2	130208296	missense	possibly damaging	0.56

Posted On

2014-01-21