Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01331:Tmc2'

74505

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

Essential gene?

Possibly non essential (E-score: 0.253) question?

Stock #

IGL01331

Quality Score

Status

Chromosome

Chromosomal Location

130195194-130264445 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130232356 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 323 (Y323C)

Ref Sequence

ENSEMBL: ENSMUSP00000125843 (fasta)

Gene Model

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

AlphaFold

Q8R4P4

Predicted Effect

probably damaging
Transcript: ENSMUST00000077988
AA Change: Y323C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000077139
Gene: ENSMUSG00000060332
AA Change: Y323C

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 damaging
Transcript: ENSMUST00000166774
AA Change: Y323C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125843
Gene: ENSMUSG00000060332
AA Change: Y323C

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Clca3a1	G	A	3: 144,747,512	T517M	probably damaging	Het
Clec4g	T	C	8: 3,717,190		probably benign	Het
Cmya5	C	T	13: 93,096,946	E545K	possibly damaging	Het
Cntn6	A	T	6: 104,774,523	D380V	probably damaging	Het
Col9a2	C	T	4: 121,045,192	P209S	possibly damaging	Het
Cyp2b9	T	C	7: 26,187,715	V183A	probably damaging	Het
Dpt	T	C	1: 164,796,810	Y27H	unknown	Het
Dusp16	T	C	6: 134,718,104	Q588R	possibly damaging	Het
Dusp27	C	A	1: 166,108,180	V150L	probably damaging	Het
Emg1	A	G	6: 124,705,070	S164P	probably benign	Het
Foxk1	G	A	5: 142,453,589	R428Q	probably damaging	Het
Frmd4a	T	A	2: 4,602,225	M667K	probably benign	Het
Gpr55	T	A	1: 85,941,193		probably benign	Het
Gtpbp8	A	G	16: 44,740,131	I162T	probably benign	Het
Ighv1-59	C	T	12: 115,335,372	V21I	possibly damaging	Het
Ipo11	T	A	13: 106,795,746	Y938F	possibly damaging	Het
Map4	G	T	9: 110,034,801	V365L	probably benign	Het
Mboat1	C	A	13: 30,219,701		probably benign	Het
Med12	A	G	X: 101,280,754	E649G	possibly damaging	Het
Nfkbie	T	C	17: 45,558,569	V150A	probably benign	Het
Olfr1054	A	C	2: 86,332,704	Y217*	probably null	Het
Olfr632	A	G	7: 103,937,575	Y65C	possibly damaging	Het
Prdm1	T	A	10: 44,441,974	K299N	possibly damaging	Het
Ribc1	T	C	X: 152,005,106	T291A	probably benign	Het
Rps6kc1	G	T	1: 190,800,352	N484K	possibly damaging	Het
Serpina3k	C	A	12: 104,343,110	A271D	probably benign	Het
Spata18	G	T	5: 73,669,681	R321L	probably damaging	Het
Syne2	C	A	12: 75,929,253		probably benign	Het
Syt17	T	A	7: 118,408,166	I302F	probably damaging	Het
Tgm6	A	G	2: 130,143,618		probably null	Het
Tnc	T	C	4: 63,982,875	D1452G	probably damaging	Het
Ttn	A	G	2: 76,789,678	I7555T	probably damaging	Het
Ugt2b36	A	T	5: 87,090,942	W131R	probably damaging	Het
Vmn2r75	A	T	7: 86,171,662	C21*	probably null	Het
Zfp592	T	A	7: 81,041,548	C1158*	probably null	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
IGL01660:Tmc2	APN	2	130260224	nonsense	probably null
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
R8167:Tmc2	UTSW	2	130241568	missense	probably benign	0.04
R8554:Tmc2	UTSW	2	130264164	missense	probably benign	0.00
R9134:Tmc2	UTSW	2	130232401	missense	probably benign	0.21
R9169:Tmc2	UTSW	2	130241596	missense	probably damaging	1.00
R9209:Tmc2	UTSW	2	130261397	splice site	probably null
R9232:Tmc2	UTSW	2	130243129	missense	probably damaging	1.00
R9725:Tmc2	UTSW	2	130247961	missense	probably damaging	0.99
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

2013-10-07