Mutagenetix > Incidental Mutation

Incidental Mutation 'R8786:Tmc1'

670675

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

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R8786 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20783458-20954202 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20826589 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 375 (Y375H)

Ref Sequence

ENSEMBL: ENSMUSP00000040859 (fasta)

Gene Model

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

AlphaFold

Q8R4P5

Predicted Effect

probably damaging
Transcript: ENSMUST00000039500
AA Change: Y375H

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

SMART Domains

Protein: ENSMUSP00000040859
Gene: ENSMUSG00000024749
AA Change: Y375H

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (72/72)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430105I19Rik	C	A	2: 118,757,251	S534I	unknown	Het
Adamtsl4	A	T	3: 95,685,474	M1K	probably null	Het
Atg2a	G	T	19: 6,244,430	V59L	probably damaging	Het
Atxn7	C	A	14: 14,103,316	T888K	possibly damaging	Het
BC055324	A	T	1: 163,964,471	L626Q	probably damaging	Het
Btbd9	T	C	17: 30,530,170	R57G	probably damaging	Het
Catspere2	T	A	1: 178,015,796		probably benign	Het
Catspere2	G	A	1: 178,015,989		probably benign	Het
Crp	T	C	1: 172,698,726	V126A	probably benign	Het
Csf1r	A	T	18: 61,114,870	T337S	probably damaging	Het
Dcaf12	T	C	4: 41,296,439	N299S	probably damaging	Het
Dcaf17	T	C	2: 71,087,400		probably null	Het
Dip2c	A	G	13: 9,615,794	D985G	probably damaging	Het
Dtna	A	G	18: 23,583,133	T138A	probably benign	Het
Emid1	T	C	11: 5,131,517	D212G	probably benign	Het
Epyc	G	A	10: 97,675,663	D173N	probably damaging	Het
Fanci	A	G	7: 79,402,550	D162G	probably benign	Het
Fry	T	C	5: 150,394,036	V827A	probably benign	Het
Ggps1	T	C	13: 14,053,920	E226G	probably benign	Het
Gm11397	G	A	13: 33,404,221	R263H	probably benign	Het
Gopc	G	A	10: 52,354,654	R183*	probably null	Het
Grik4	C	T	9: 42,541,834	G752S	probably damaging	Het
H2-D1	T	A	17: 35,263,868	C125S	probably damaging	Het
H2-Q1	T	A	17: 35,320,893	V46D	probably damaging	Het
Hsd17b3	T	C	13: 64,072,048	N126S	probably damaging	Het
Igsf10	G	A	3: 59,330,642	T706I	probably benign	Het
Kmt2e	A	G	5: 23,464,866	D117G	probably damaging	Het
Kmt5a	C	T	5: 124,446,011	A18V	probably benign	Het
Krtap29-1	C	T	11: 99,978,639	G139R	probably damaging	Het
Lama5	T	C	2: 180,196,307	Y872C	probably damaging	Het
Lrriq4	T	A	3: 30,650,603	M260K	probably benign	Het
Map2	G	A	1: 66,433,596		probably benign	Het
Mrpl51	C	T	6: 125,192,377	A8V	probably benign	Het
Ndufs3	T	C	2: 90,902,434	T103A	probably benign	Het
Numa1	T	G	7: 101,998,409	L449R	probably benign	Het
Olfr1513	C	T	14: 52,349,564	A161T	possibly damaging	Het
Pan3	C	T	5: 147,488,141	P295S	possibly damaging	Het
Pds5b	T	C	5: 150,780,669	S846P	probably damaging	Het
Phf2	A	T	13: 48,813,743	M712K	unknown	Het
Phlda2	A	T	7: 143,502,474	V6E	probably benign	Het
Pkdrej	C	A	15: 85,819,843	A631S	probably benign	Het
Plcd3	G	T	11: 103,071,743	N627K	probably damaging	Het
Prpf6	T	C	2: 181,620,622	I138T	possibly damaging	Het
Psd4	G	A	2: 24,405,432	S866N	probably benign	Het
Ptprb	A	C	10: 116,319,401	T400P	probably benign	Het
Rxfp1	T	C	3: 79,663,370		probably null	Het
Sbf2	A	G	7: 110,464,586		probably null	Het
Setd4	C	T	16: 93,593,274	R89Q	probably benign	Het
Sgpp1	A	G	12: 75,716,378	I343T	probably benign	Het
Sh2b2	T	C	5: 136,231,804	D186G	probably benign	Het
Slc12a4	A	T	8: 105,953,917	I191N	probably damaging	Het
Slc4a4	A	T	5: 89,084,690	D251V	probably benign	Het
Slc6a5	A	T	7: 49,912,095	D125V	possibly damaging	Het
Slf1	T	A	13: 77,126,687	I16F	possibly damaging	Het
Sncaip	T	C	18: 52,898,262	V521A	probably damaging	Het
Stx19	T	C	16: 62,822,412	L197P	probably damaging	Het
Sucla2	A	G	14: 73,560,465	N39D	probably benign	Het
Sult1d1	T	A	5: 87,564,716	T90S	probably benign	Het
Syna	C	T	5: 134,559,869	M75I	probably benign	Het
Tas2r138	A	G	6: 40,612,677	S212P	probably damaging	Het
Tdrd3	T	A	14: 87,472,201	C106*	probably null	Het
Tex43	T	C	18: 56,594,496	F89L	probably damaging	Het
Tlk2	C	T	11: 105,281,233	A743V	unknown	Het
Tlr3	T	C	8: 45,398,249	D537G	possibly damaging	Het
Tsen54	T	A	11: 115,820,672	M305K	probably damaging	Het
Umod	C	T	7: 119,477,358	V62M	possibly damaging	Het
Vmn1r10	A	G	6: 57,114,025	T201A	probably benign	Het
Vmn1r103	T	C	7: 20,509,751	T262A	probably benign	Het
Vmn2r100	T	C	17: 19,522,576	V404A	probably damaging	Het
Vmn2r56	A	G	7: 12,715,466	F282L	probably damaging	Het
Wdr64	A	T	1: 175,808,761	K982*	probably null	Het
Xpo6	A	T	7: 126,112,955		probably benign	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
R7520:Tmc1	UTSW	19	20799178	missense	probably damaging	0.99
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
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
R9493:Tmc1	UTSW	19	20824280	missense	probably benign	0.00
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'- AGCATCCTTGTCTCACACTCAG -3'
(R):5'- CGGAATGCACTTTACGGAATTTC -3'

Sequencing Primer
(F):5'- TTGTCTCACACTCAGCTACAGAAG -3'
(R):5'- GCACTTTACGGAATTTCAGATTTTAG -3'

Posted On

2021-04-30