Mutagenetix > Incidental Mutations

Incidental Mutation 'R7520:Tmc1'

582652

Institutional Source

Beutler Lab

Gene Symbol

Tmc1

Ensembl Gene

ENSMUSG00000024749

Gene Name

transmembrane channel-like gene family 1

Synonyms

4933416G09Rik, Beethoven, Bth

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R7520 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20783458-20954202 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20799178 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 606 (M606L)

Ref Sequence

ENSEMBL: ENSMUSP00000040859 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039500]

AlphaFold

Q8R4P5

Predicted Effect

probably damaging
Transcript: ENSMUST00000039500
AA Change: M606L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000040859
Gene: ENSMUSG00000024749
AA Change: M606L

Domain	Start	End	E-Value	Type
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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (50/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	T	4: 53,078,114	I886N	probably benign	Het
Adamts6	A	G	13: 104,297,186	H41R	probably benign	Het
Adck1	T	C	12: 88,459,205		probably null	Het
Atat1	G	T	17: 35,897,814	T398K	probably benign	Het
Bahcc1	A	G	11: 120,276,205	E1144G	possibly damaging	Het
Cand2	G	T	6: 115,785,251	E213*	probably null	Het
Cep350	A	G	1: 155,915,629	S1250P	probably benign	Het
Cln3	A	G	7: 126,581,680	L63P	probably damaging	Het
Col4a4	A	T	1: 82,507,087	C486*	probably null	Het
Ctnnal1	A	T	4: 56,837,838	M264K	probably damaging	Het
Ddr2	T	A	1: 169,984,439	D738V	probably damaging	Het
Dnah6	T	C	6: 73,127,904	M1901V	probably benign	Het
Dnhd1	A	G	7: 105,696,048	T2200A	probably benign	Het
Dolk	A	G	2: 30,284,543	Y497H	probably benign	Het
Drd5	T	C	5: 38,320,852	V396A	probably benign	Het
Epsti1	A	T	14: 77,963,443		probably null	Het
Erich3	A	G	3: 154,763,126	T1072A	unknown	Het
Ero1l	A	T	14: 45,306,575	N57K	probably damaging	Het
Exph5	T	C	9: 53,367,214		probably null	Het
Frmd5	C	T	2: 121,554,264		probably null	Het
Gm13124	T	C	4: 144,555,289	Y311C	probably damaging	Het
H2-Q7	A	G	17: 35,442,710	T310A	probably benign	Het
Hecw2	G	T	1: 53,926,056	A537E	probably benign	Het
Itga4	A	T	2: 79,300,989	D567V	probably damaging	Het
Kcnu1	A	T	8: 25,885,340	N361Y	probably damaging	Het
Keap1	A	G	9: 21,233,491	S408P	probably benign	Het
Mamdc4	T	A	2: 25,565,348	I928F	possibly damaging	Het
Mboat4	T	C	8: 34,123,874	F155S	probably benign	Het
Mtbp	A	G	15: 55,577,346		probably benign	Het
Nmi	T	G	2: 51,952,480	K200T	probably benign	Het
Olfr138	G	A	17: 38,275,440	C223Y	probably benign	Het
Olfr27	G	T	9: 39,144,118	R6L	probably benign	Het
Pcdha7	G	A	18: 36,975,313	V464M	probably damaging	Het
Peg10	T	A	6: 4,756,796	N457K	unknown	Het
Plekha7	A	T	7: 116,137,284	I944N	possibly damaging	Het
Plpp1	T	A	13: 112,801,247	D13E	possibly damaging	Het
Pnpla6	G	T	8: 3,537,508	V1070F	probably damaging	Het
Riox1	T	A	12: 83,951,771	Y360*	probably null	Het
Sdhb	A	G	4: 140,966,571	D50G	possibly damaging	Het
Slc35f2	T	A	9: 53,801,101	V126D	possibly damaging	Het
Slmap	A	G	14: 26,427,420	V612A	probably benign	Het
Snap91	T	A	9: 86,839,649	I46F	probably damaging	Het
Sp110	G	A	1: 85,579,092	R417C	probably benign	Het
Taar7b	T	C	10: 24,000,483	L182P	probably damaging	Het
Trpm8	T	A	1: 88,343,321	D444E	probably benign	Het
Tsen54	A	G	11: 115,820,971	T405A	probably damaging	Het
Ttll5	T	C	12: 85,899,471	W492R	probably damaging	Het
Ttn	T	A	2: 76,897,779	T5566S	unknown	Het
Utp20	A	T	10: 88,818,595	M210K	probably damaging	Het
Zfand1	A	G	3: 10,345,949	V115A	probably damaging	Het

Other mutations in Tmc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL03194:Tmc1	APN	19	20804653	missense	probably damaging	1.00
dinner_bell	UTSW	19	20795516	missense	probably damaging	0.99
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
R7573:Tmc1	UTSW	19	20907008	missense	probably damaging	0.98
R7825:Tmc1	UTSW	19	20804645	missense	possibly damaging	0.55
R8024:Tmc1	UTSW	19	20900817	missense	probably damaging	1.00
R8073:Tmc1	UTSW	19	20868361	missense	probably benign	0.08
R8786:Tmc1	UTSW	19	20826589	missense	probably damaging	1.00
R8791:Tmc1	UTSW	19	20789845	missense	probably benign	0.00
R8969:Tmc1	UTSW	19	20816229	missense	probably damaging	1.00
R8973:Tmc1	UTSW	19	20900851	missense	probably benign
R9429:Tmc1	UTSW	19	20816184	missense	possibly damaging	0.79
Z1176:Tmc1	UTSW	19	20826506	missense	probably null	1.00
Z1177:Tmc1	UTSW	19	20795608	missense	possibly damaging	0.47
Z1177:Tmc1	UTSW	19	20823982	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCACAATCAAAAGATGGCGG -3'
(R):5'- ACATGTTTCGAAGGCGGGAG -3'

Sequencing Primer
(F):5'- CGGGAGGGAGACGATCATGTAC -3'
(R):5'- CAGGACCATATATAGACACAGTCTTG -3'

Posted On

2019-10-17