Mutagenetix > Incidental Mutations

Incidental Mutation 'R8969:Tmc1'

682978

Institutional Source

Beutler Lab

Gene Symbol

Tmc1

Ensembl Gene

ENSMUSG00000024749

Gene Name

transmembrane channel-like gene family 1

Synonyms

4933416G09Rik, Beethoven, Bth

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R8969 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20783458-20954202 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 20816229 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 523 (R523C)

Ref Sequence

ENSEMBL: ENSMUSP00000040859 (fasta)

Gene Model

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

AlphaFold

Q8R4P5

Predicted Effect

probably damaging
Transcript: ENSMUST00000039500
AA Change: R523C

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

SMART Domains

Protein: ENSMUSP00000040859
Gene: ENSMUSG00000024749
AA Change: R523C

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: 99.5%
20x: 98.5%

Validation Efficiency

100% (77/77)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,277,944	N662K	probably benign	Het
Acp7	G	A	7: 28,607,957	R492W	probably damaging	Het
Adam33	C	T	2: 131,053,074	G688D	probably damaging	Het
Ak3	T	G	19: 29,047,694	M46L	probably benign	Het
Aldh1l1	A	G	6: 90,570,808	T417A	probably benign	Het
Ambp	C	T	4: 63,154,091		probably benign	Het
Arhgef11	T	C	3: 87,725,642	S687P	probably damaging	Het
Ash1l	T	C	3: 88,966,291	M127T	possibly damaging	Het
Atg9b	C	T	5: 24,387,834	A524T	probably benign	Het
Btbd10	A	T	7: 113,325,955	S277T	probably damaging	Het
Ccdc167	T	C	17: 29,705,579	D16G	probably damaging	Het
Cdh12	A	G	15: 21,492,653	T253A	probably damaging	Het
Cfap206	A	T	4: 34,692,522	D501E	probably benign	Het
Chrnb2	A	G	3: 89,757,225	F461L	probably damaging	Het
Clic1	T	C	17: 35,055,410		probably null	Het
Cmah	A	G	13: 24,422,653	Y89C	probably damaging	Het
Crkl	A	G	16: 17,469,054	E158G	probably damaging	Het
Cyp3a59	A	T	5: 146,112,820	E486V	probably benign	Het
D16Ertd472e	T	G	16: 78,547,794	Y142S	probably damaging	Het
Decr2	T	A	17: 26,087,381	M94L	probably benign	Het
Dspp	A	T	5: 104,177,774	S668C	unknown	Het
Dync2h1	T	C	9: 7,130,723	R1708G	probably damaging	Het
Eno3	T	A	11: 70,660,865	I217N	possibly damaging	Het
Fcho2	A	T	13: 98,755,096	L386*	probably null	Het
Gm5114	C	A	7: 39,409,308	V296F	probably damaging	Het
Hc	A	G	2: 35,019,463		probably null	Het
Helz2	A	G	2: 181,237,788	V679A	probably benign	Het
Ifnar2	T	C	16: 91,404,172	F434L	probably benign	Het
Isl1	A	G	13: 116,303,321	S164P	possibly damaging	Het
Jup	C	T	11: 100,379,565	C372Y	probably damaging	Het
Kat2b	T	A	17: 53,660,088	Y621*	probably null	Het
Kif2b	T	C	11: 91,577,193	H88R	probably benign	Het
Kit	G	A	5: 75,639,062	V485I		Het
Klhl36	T	C	8: 119,870,148	L196P	probably damaging	Het
Klk1b27	T	A	7: 44,054,508	I25K	probably damaging	Het
Kmt2c	T	A	5: 25,314,389	Q2241L	possibly damaging	Het
Krt10	T	A	11: 99,387,608	N242Y	probably damaging	Het
Krt36	T	A	11: 100,102,303	I449F	probably damaging	Het
Med27	G	T	2: 29,346,863	V7F	possibly damaging	Het
Mxd1	C	T	6: 86,651,484	V145M	probably benign	Het
Mylip	T	A	13: 45,391,344	F81L	probably damaging	Het
Nceh1	T	A	3: 27,222,736	F69L	probably null	Het
Ndufs3	A	T	2: 90,902,429	N104K	probably damaging	Het
Nfxl1	A	C	5: 72,559,130	V46G	unknown	Het
Olfr1022	A	G	2: 85,869,488	N299D	probably benign	Het
Olfr1111	T	A	2: 87,150,584	M26L	probably benign	Het
Olfr33	T	C	7: 102,714,351	T21A	probably benign	Het
Olfr585	T	G	7: 103,098,044	I101S	probably damaging	Het
Palld	T	A	8: 61,684,849	H624L	probably damaging	Het
Pcbp2	T	G	15: 102,490,779	L343R	probably damaging	Het
Pclo	T	A	5: 14,522,194	I531N	unknown	Het
Phip	T	C	9: 82,926,964		probably benign	Het
Phldb2	A	T	16: 45,772,133		probably null	Het
Ppp2r5e	G	T	12: 75,453,718	T467N	possibly damaging	Het
Ptcd3	T	C	6: 71,903,447	I97M	probably benign	Het
Ptpn21	T	A	12: 98,689,025	Q561L	probably benign	Het
Rnf38	A	T	4: 44,149,079	H121Q	possibly damaging	Het
Rrnad1	G	A	3: 87,929,975		probably benign	Het
Sec1	A	G	7: 45,679,473	F50S	possibly damaging	Het
Sec62	A	G	3: 30,818,875	E369G	unknown	Het
Serpinb2	A	T	1: 107,524,660	I323F	probably damaging	Het
Sh3rf1	A	C	8: 61,384,826	T802P	probably benign	Het
Srd5a3	A	G	5: 76,153,646	R241G	probably benign	Het
Suox	T	C	10: 128,671,673	N162S	probably benign	Het
Tenm2	C	T	11: 36,051,861	C1327Y	probably damaging	Het
Terf2ip	A	G	8: 112,011,738	D86G	probably damaging	Het
Tmprss11e	T	A	5: 86,713,899	I263L	possibly damaging	Het
Tmtc4	T	C	14: 122,941,812		probably benign	Het
Tnfrsf22	T	A	7: 143,638,436	N171I	unknown	Het
Trpm3	A	G	19: 22,925,944	S1035G	probably damaging	Het
U2af1	C	T	17: 31,648,880	V72M	possibly damaging	Het
Uimc1	A	G	13: 55,085,634	C70R	possibly damaging	Het
Vmn2r83	A	G	10: 79,478,019	T154A	probably benign	Het
Xrn2	T	C	2: 147,029,384	I302T	probably damaging	Het
Zbtb6	A	G	2: 37,428,665	L417P	probably damaging	Het
Zdhhc14	C	T	17: 5,725,280	S269L	probably benign	Het
Zfp735	T	A	11: 73,711,873	F548I	possibly damaging	Het
Zfp809	T	C	9: 22,225,834		probably null	Het
Zranb3	A	T	1: 127,960,851	D832E	possibly 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
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
R8786:Tmc1	UTSW	19	20826589	missense	probably damaging	1.00
R8791:Tmc1	UTSW	19	20789845	missense	probably benign	0.00
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'- GACCTCACTCGTGTAACTCG -3'
(R):5'- TGGAGACAGTTTGAGAGTAACC -3'

Sequencing Primer
(F):5'- TGTAACTCGGAGGCATCCTAC -3'
(R):5'- AGACAGTTTGAGAGTAACCAAATAC -3'

Posted On

2021-10-11