Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00465:Tmc2'

332120

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 #

IGL00465

Quality Score

Status

Chromosome

Chromosomal Location

130195194-130264445 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130261304 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 787 (S787P)

Ref Sequence

ENSEMBL: ENSMUSP00000125843 (fasta)

Gene Model

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

AlphaFold

Q8R4P4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077988
AA Change: S787P

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000077139
Gene: ENSMUSG00000060332
AA Change: S787P

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

possibly damaging
Transcript: ENSMUST00000166774
AA Change: S787P

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125843
Gene: ENSMUSG00000060332
AA Change: S787P

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830411N06Rik	A	G	7: 140,294,842	Y411C	probably damaging	Het
A1bg	A	T	15: 60,921,253	S2T	probably damaging	Het
Adamts13	T	A	2: 26,973,555	W7R	probably benign	Het
Anks6	T	A	4: 47,046,054	D279V	probably damaging	Het
C4bp	A	T	1: 130,639,134	L335Q	probably damaging	Het
Cd109	A	T	9: 78,660,934	K299*	probably null	Het
Cd200r2	A	T	16: 44,909,288	H102L	probably damaging	Het
Col12a1	A	G	9: 79,697,581	Y662H	probably damaging	Het
Cyp2c37	T	C	19: 40,001,997	F380L	probably benign	Het
Deup1	A	G	9: 15,561,370	S549P	probably damaging	Het
Dysf	G	T	6: 84,199,848		probably null	Het
Etaa1	A	T	11: 17,947,825	C166*	probably null	Het
Fam227b	T	C	2: 126,144,325		probably null	Het
Gucy1b2	T	G	14: 62,403,200	Q752P	probably benign	Het
Hal	T	C	10: 93,490,069		probably null	Het
Hao1	C	A	2: 134,554,270	K21N	probably damaging	Het
Itga4	T	C	2: 79,292,050	F536L	probably benign	Het
Lmod3	A	T	6: 97,247,861	I333N	probably damaging	Het
Mgme1	T	A	2: 144,279,516	D297E	probably damaging	Het
Myh2	G	T	11: 67,178,833		probably benign	Het
Myo7a	A	G	7: 98,102,626	M70T	probably damaging	Het
Nav3	T	C	10: 109,852,746	T557A	probably damaging	Het
Nif3l1	C	A	1: 58,455,686	H271Q	possibly damaging	Het
Nostrin	A	G	2: 69,185,554		probably benign	Het
Nxn	C	A	11: 76,274,655		probably benign	Het
Pcdhb22	A	T	18: 37,520,132	D551V	probably damaging	Het
Pde4d	A	G	13: 109,936,687	D339G	possibly damaging	Het
Pkp4	T	A	2: 59,338,755	S408T	probably damaging	Het
Pxmp2	T	C	5: 110,283,716	T54A	probably benign	Het
Rif1	T	A	2: 52,121,007	V2362E	probably damaging	Het
Rps6kl1	A	G	12: 85,139,429	S276P	probably benign	Het
Scaf4	C	A	16: 90,247,281	M601I	unknown	Het
Setd7	T	A	3: 51,550,308	T33S	probably benign	Het
Shroom1	T	A	11: 53,464,094	D280E	probably benign	Het
Slc35f2	G	T	9: 53,798,014		probably null	Het
Slitrk3	T	A	3: 73,051,103	N112I	probably damaging	Het
Spag1	A	G	15: 36,183,821		probably benign	Het
Stx6	C	T	1: 155,201,933		probably benign	Het
Sun1	A	T	5: 139,234,685		probably null	Het
Tbl1xr1	G	A	3: 22,192,268		probably null	Het
Traf3ip3	C	T	1: 193,194,820		probably benign	Het
Trip12	T	G	1: 84,763,861	H559P	probably damaging	Het
Trpm1	G	T	7: 64,247,467	M272I	possibly damaging	Het
Ttc21b	T	C	2: 66,242,775	E189G	probably benign	Het
Tubd1	T	C	11: 86,555,068		probably benign	Het
Vps13a	T	A	19: 16,752,175	T167S	probably damaging	Het
Zbtb3	A	G	19: 8,803,665	D214G	possibly damaging	Het
Zfp658	A	G	7: 43,567,356	D50G	probably benign	Het
Zfp976	T	A	7: 42,613,685	I243L	unknown	Het

Other mutations in Tmc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2015-08-05