Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03137:Tmc2'

410567

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: 0.455) question?

Stock #

IGL03137

Quality Score

Status

Chromosome

Chromosomal Location

130195194-130264445 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 130240130 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 411 (L411H)

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: L411H

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

SMART Domains

Protein: ENSMUSP00000077139
Gene: ENSMUSG00000060332
AA Change: L411H

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: L411H

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

SMART Domains

Protein: ENSMUSP00000125843
Gene: ENSMUSG00000060332
AA Change: L411H

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	A	3: 37,034,602	M569K	probably damaging	Het
AI481877	G	T	4: 59,094,162	F187L	probably benign	Het
Ankub1	T	C	3: 57,690,357	D64G	probably damaging	Het
Apobec2	C	T	17: 48,423,275	W121*	probably null	Het
Arid2	A	G	15: 96,371,318	N1104S	probably benign	Het
Brap	T	C	5: 121,665,093		probably benign	Het
Cilp	A	C	9: 65,278,168	N515T	probably benign	Het
Cpeb2	T	A	5: 43,261,724		probably benign	Het
Creb1	C	T	1: 64,576,215	T242I	possibly damaging	Het
Ddx60	T	C	8: 61,988,083	V1062A	possibly damaging	Het
Dock8	A	G	19: 25,155,948	E1153G	probably benign	Het
Gk5	A	G	9: 96,176,292		probably benign	Het
Gm5478	G	T	15: 101,644,382	N60K	probably benign	Het
Hmcn2	T	A	2: 31,362,230	V904D	probably damaging	Het
Hnmt	T	A	2: 24,048,739	H29L	probably damaging	Het
Hsf1	A	G	15: 76,496,449		probably benign	Het
Igkv1-122	C	A	6: 68,017,416	T96K	probably damaging	Het
Iyd	T	C	10: 3,551,987	I211T	probably damaging	Het
Kcnn1	G	T	8: 70,850,737	H34N	probably damaging	Het
Krtap5-3	G	T	7: 142,202,209		probably benign	Het
Map3k19	C	T	1: 127,824,315	R433K	probably benign	Het
Mss51	A	C	14: 20,487,132	C89W	probably damaging	Het
Myh9	A	T	15: 77,791,089	I276N	probably damaging	Het
Myof	T	C	19: 37,974,889	E420G	probably damaging	Het
Nfatc2ip	C	A	7: 126,390,568	V215L	possibly damaging	Het
Olfr1113	A	T	2: 87,213,156	Y88F	probably benign	Het
Olfr631	T	C	7: 103,929,594	M257T	probably benign	Het
Olfr73	G	A	2: 88,034,410	A243V	probably benign	Het
Pcdhb4	T	C	18: 37,308,516	I293T	probably damaging	Het
Pdcd6ip	A	G	9: 113,657,145	S729P	possibly damaging	Het
Pick1	C	A	15: 79,245,301	H169N	possibly damaging	Het
Ppp4r4	A	C	12: 103,581,384	K212T	probably damaging	Het
Racgap1	A	G	15: 99,628,741	S314P	probably damaging	Het
Rasef	C	A	4: 73,734,483	E594*	probably null	Het
Ryr3	T	G	2: 112,910,397	K522Q	probably benign	Het
Six5	T	C	7: 19,097,147		probably benign	Het
Slc26a9	G	T	1: 131,763,877	E619D	probably benign	Het
Sqor	A	G	2: 122,808,071	I412V	probably benign	Het
Srrt	T	A	5: 137,296,117		probably benign	Het
Sult1e1	C	T	5: 87,578,616	R213K	probably benign	Het
Tmem63b	T	A	17: 45,664,995	N511Y	probably damaging	Het
Ucp3	T	A	7: 100,482,762		probably benign	Het
Vmn1r201	A	T	13: 22,474,804	I63F	probably benign	Het
Vps13c	G	T	9: 67,890,380	L522F	probably damaging	Het
Wwp1	T	A	4: 19,678,408	T3S	probably damaging	Het
Zc3hav1	A	G	6: 38,332,394	S498P	probably benign	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
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
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

2016-08-02