Mutagenetix > Incidental Mutation

Incidental Mutation 'R7573:Tmc1'

586193

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: 0.129) question?

Stock #

R7573 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20783458-20954202 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 20907008 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 23 (D23Y)

Ref Sequence

ENSEMBL: ENSMUSP00000040859 (fasta)

Gene Model

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

AlphaFold

Q8R4P5

Predicted Effect

probably damaging
Transcript: ENSMUST00000039500
AA Change: D23Y

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000040859
Gene: ENSMUSG00000024749
AA Change: D23Y

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: 99.7%
20x: 99.1%

Validation Efficiency

99% (80/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,573,268	I49F		Het
1810055G02Rik	T	A	19: 3,715,728	M1K	probably null	Het
A430078G23Rik	A	G	8: 3,384,918	R188G	probably damaging	Het
Abcb1b	G	A	5: 8,828,866	C750Y	possibly damaging	Het
Abi2	T	A	1: 60,470,708	V412D	probably benign	Het
Alk	C	T	17: 71,900,792	V983M	probably damaging	Het
Alppl2	A	T	1: 87,088,231	W266R	possibly damaging	Het
Atp2c2	A	T	8: 119,751,269	D695V	probably damaging	Het
B3gnt4	A	T	5: 123,510,655	I28L	probably benign	Het
C2cd3	A	G	7: 100,419,707	D536G		Het
Cacna1c	A	G	6: 118,604,445	S1733P		Het
Cacna1e	T	C	1: 154,726,165		probably benign	Het
Capns1	A	G	7: 30,192,535	F101L	probably damaging	Het
Ccdc180	A	G	4: 45,922,015	T1030A	probably benign	Het
Cdh23	T	C	10: 60,323,550	T2151A	probably benign	Het
Cenpe	T	A	3: 135,247,459	L1558Q	probably damaging	Het
Cfap157	T	C	2: 32,777,508	H521R	probably benign	Het
Crygs	T	A	16: 22,805,319	*179C	probably null	Het
Ctsb	T	C	14: 63,138,101	V172A	probably benign	Het
Cul9	T	C	17: 46,519,910	T1686A	probably benign	Het
Cutc	T	C	19: 43,759,943	V95A	probably benign	Het
Cxcl3	A	G	5: 90,786,246	T26A	probably benign	Het
Dnah9	A	G	11: 66,125,215	V400A	probably benign	Het
Dysf	A	T	6: 84,130,122	N1139I	possibly damaging	Het
Fam136a	G	A	6: 86,366,685	E55K	probably benign	Het
Fam151a	A	G	4: 106,743,305	D179G	probably damaging	Het
Fam178b	T	C	1: 36,632,452	D196G	probably damaging	Het
Fut9	A	T	4: 25,620,691	M41K	probably benign	Het
Gm9195	T	C	14: 72,456,682	Q1531R	probably null	Het
Gpr6	A	T	10: 41,070,872	V238D	probably damaging	Het
Hoxa2	A	T	6: 52,163,303	S234R	probably benign	Het
Itga4	A	G	2: 79,272,993	T143A	probably benign	Het
Kcnq2	A	G	2: 181,081,589	S693P	probably benign	Het
Kif13b	A	G	14: 64,803,658	I1732V	probably benign	Het
Klhl14	A	G	18: 21,652,154	V72A	probably benign	Het
Krt2	T	A	15: 101,814,519	D348V	probably benign	Het
Map4k2	A	T	19: 6,344,064	E300D	probably benign	Het
Mars	A	G	10: 127,302,810		probably null	Het
Mpo	A	G	11: 87,797,577	D354G	probably benign	Het
Mrpl15	T	C	1: 4,777,555	T174A	probably damaging	Het
Myom2	G	A	8: 15,122,450	C1183Y	probably damaging	Het
Nfkb2	C	A	19: 46,308,643	Q336K	possibly damaging	Het
Nlrp2	A	G	7: 5,317,469		probably null	Het
Nlrp9b	T	C	7: 20,019,200	L10P	probably damaging	Het
Nrip2	A	G	6: 128,400,269	S53G	probably benign	Het
Olfr1280	T	C	2: 111,315,932	I151T	probably benign	Het
Olfr1537	C	T	9: 39,237,681	V248I	probably benign	Het
Olfr535	G	A	7: 140,492,999	M120I	probably damaging	Het
Olfr618	C	T	7: 103,597,528	L71F	probably benign	Het
Olfr69	A	G	7: 103,767,470	M309T	probably benign	Het
Olfr921	A	T	9: 38,775,495	K80I	probably damaging	Het
Pak7	A	G	2: 136,116,305	S288P	probably damaging	Het
Pjvk	T	C	2: 76,657,465	F234L	probably benign	Het
Plekhm2	T	C	4: 141,631,347	N616D	probably benign	Het
Pnkp	C	T	7: 44,857,428	R9C	probably damaging	Het
Prom1	A	G	5: 44,055,930	C154R	probably damaging	Het
Rab3gap2	T	A	1: 185,282,382	W1243R	probably benign	Het
Rad17	C	T	13: 100,629,466	A385T	probably damaging	Het
Rasgrp1	T	C	2: 117,287,943	I522V	probably damaging	Het
Rnf213	T	C	11: 119,458,484	C3804R		Het
Ros1	T	A	10: 52,169,976	T153S	probably benign	Het
Sema4g	T	C	19: 44,997,571	S284P	probably damaging	Het
Sept9	C	T	11: 117,199,745		probably benign	Het
Slc2a9	T	C	5: 38,417,226	S236G	probably damaging	Het
Slc9c1	T	C	16: 45,577,893	F674L	probably benign	Het
Slfn5	A	T	11: 82,958,759	K361N	probably damaging	Het
Smad6	A	G	9: 64,021,770	L88S	unknown	Het
Smarca4	T	A	9: 21,639,075		probably null	Het
Smg7	A	T	1: 152,859,489	N198K	probably damaging	Het
Sorcs1	G	A	19: 50,152,796	Q1166*	probably null	Het
Stap1	A	G	5: 86,090,995	N212S	possibly damaging	Het
Tbx2	C	G	11: 85,833,312	A69G	possibly damaging	Het
Tmf1	A	T	6: 97,158,494	D940E	probably benign	Het
Trim27	T	A	13: 21,180,600	C36S	probably damaging	Het
Unc80	G	A	1: 66,521,537	G808D	probably damaging	Het
Usp17ld	G	T	7: 103,250,887	Y279*	probably null	Het
Usp40	G	A	1: 87,986,072	A433V	probably benign	Het
Vmn1r49	G	A	6: 90,072,861	A53V	probably benign	Het
Vmn1r84	T	C	7: 12,361,860	N302S	probably benign	Het
Wfdc2	A	T	2: 164,565,821	I137L	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
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
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'- CTGTCTGTCAGTTATACCAGAGG -3'
(R):5'- CTTGAACCTGATTTTAGTGTACGC -3'

Sequencing Primer
(F):5'- GTTATACCAGAGGAATAACTCACGC -3'
(R):5'- CCTGATTTTAGTGTACGCTGAAATC -3'

Posted On

2019-10-24