Mutagenetix > Incidental Mutation

Incidental Mutation 'R8073:Tmc1'

620383

Institutional Source

Beutler Lab

Gene Symbol

Tmc1

Ensembl Gene

ENSMUSG00000024749

Gene Name

transmembrane channel-like gene family 1

Synonyms

4933416G09Rik, Beethoven, Bth

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.291) question?

Stock #

R8073 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20783458-20954202 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20868361 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 166 (N166S)

Ref Sequence

ENSEMBL: ENSMUSP00000040859 (fasta)

Gene Model

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

AlphaFold

Q8R4P5

Predicted Effect

probably benign
Transcript: ENSMUST00000039500
AA Change: N166S

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000040859
Gene: ENSMUSG00000024749
AA Change: N166S

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: 99.2%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago1	C	T	4: 126,443,226	V533I	probably benign	Het
Akap3	A	T	6: 126,865,773	T452S	probably damaging	Het
Angpt1	C	T	15: 42,438,303	M436I	probably benign	Het
B3galt4	T	C	17: 33,950,823	K147R	probably damaging	Het
Birc6	C	A	17: 74,603,085	T1491K	probably damaging	Het
Boll	T	C	1: 55,355,722		probably benign	Het
C6	T	C	15: 4,735,193	F124L	probably benign	Het
Camta1	T	C	4: 151,078,824	Y436C	probably damaging	Het
Celsr1	T	C	15: 85,939,155	N1684S	probably benign	Het
Cflar	T	C	1: 58,752,822	L428P		Het
Clk4	T	C	11: 51,277,889	I363T	probably benign	Het
Cnst	A	G	1: 179,606,437	T273A	probably benign	Het
Col5a1	C	T	2: 27,962,129	A546V	possibly damaging	Het
Col6a6	T	A	9: 105,781,947	N600Y	probably benign	Het
Cxadr	A	G	16: 78,333,413	N156S	probably benign	Het
Diaph1	C	T	18: 37,891,797	G537E	unknown	Het
Dmxl1	T	A	18: 49,878,433	V1219D	probably damaging	Het
Dnajb12	T	A	10: 59,890,179	Y95*	probably null	Het
Dnajc5g	A	G	5: 31,111,685	T137A	probably benign	Het
Dpy19l3	G	A	7: 35,729,748	T89M	probably damaging	Het
Dusp19	C	A	2: 80,617,484	T34N	probably benign	Het
Eln	CTCCAGCTCCGAT	C	5: 134,729,149		probably benign	Het
Enpp1	A	G	10: 24,679,244	V68A	possibly damaging	Het
Epha7	T	A	4: 28,821,022	D62E	probably damaging	Het
Frmd4b	A	T	6: 97,306,713	V445E	probably benign	Het
Gp9	A	C	6: 87,779,354	D117A	probably benign	Het
Haao	T	C	17: 83,835,220	E152G	possibly damaging	Het
Ighd	A	G	12: 113,416,169	S52P	probably benign	Het
Ikzf3	T	C	11: 98,467,429	K361E	probably benign	Het
Lgi2	T	A	5: 52,546,671	E206V	probably benign	Het
Mfsd11	T	A	11: 116,863,923	V220E	probably benign	Het
Moxd1	G	T	10: 24,252,950	G200C	probably damaging	Het
Mthfd1l	C	A	10: 3,973,417	Q55K	probably benign	Het
Nlrp9a	T	A	7: 26,560,835	L672M	probably damaging	Het
Npvf	A	C	6: 50,654,369	F9V	probably damaging	Het
Nup205	G	T	6: 35,202,169		probably null	Het
Nup43	T	C	10: 7,670,949	V111A	probably benign	Het
Obscn	C	T	11: 59,135,690	R229H	probably benign	Het
Olfml2a	C	A	2: 38,957,754	R442S	probably damaging	Het
Olfr12	T	A	1: 92,620,084	D59E	probably damaging	Het
Olfr1225	T	A	2: 89,170,940	I91F	probably damaging	Het
Olfr1445	T	A	19: 12,884,616	V245E	probably benign	Het
Olfr418	A	G	1: 173,270,985	D270G	probably benign	Het
Olfr698	C	A	7: 106,752,801	E196*	probably null	Het
Pcdhga7	T	C	18: 37,715,345	F135S	probably damaging	Het
Pde4a	A	T	9: 21,210,769	I654F	probably damaging	Het
Pip5kl1	G	A	2: 32,583,428	R359Q	possibly damaging	Het
Ppp2ca	T	C	11: 52,119,297	V244A	possibly damaging	Het
Qrich1	T	A	9: 108,534,428	L384H	possibly damaging	Het
Rab4a	T	C	8: 123,827,396	V62A	possibly damaging	Het
Ranbp10	A	G	8: 105,786,629	L217P	probably damaging	Het
Rhebl1	C	T	15: 98,878,524	A131T	probably benign	Het
Rnf150	A	T	8: 82,863,917		probably benign	Het
Slc32a1	G	A	2: 158,614,765	A447T	probably damaging	Het
Spag5	T	A	11: 78,301,977	M45K	probably benign	Het
Spata13	A	G	14: 60,691,256	N88D	probably damaging	Het
Spred2	C	A	11: 20,008,422	T128N	probably benign	Het
Tenm2	T	C	11: 36,139,644	E776G	possibly damaging	Het
Tet1	C	G	10: 62,813,353	E156Q	probably damaging	Het
Trim43a	C	A	9: 88,582,437	Q134K	possibly damaging	Het
Tsks	A	T	7: 44,957,881	M543L	probably benign	Het
Ttc30a2	A	G	2: 75,976,653	V505A	probably damaging	Het
Ttn	T	C	2: 76,743,837	K25571E	probably damaging	Het
Vamp5	C	A	6: 72,380,453		probably benign	Het
Vmn2r79	A	T	7: 87,002,254	Q287L	probably benign	Het
Zfp326	T	A	5: 105,914,816	V517E	unknown	Het
Zfp467	A	T	6: 48,438,025	H564Q	probably damaging	Het
Zfp51	G	A	17: 21,464,032	C303Y	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
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
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'- TCACAACGATGGAGTCAAGC -3'
(R):5'- AGTGAACCCTGCTGTTATGCC -3'

Sequencing Primer
(F):5'- CAACGATGGAGTCAAGCTTTGC -3'
(R):5'- GCAGTATTTCATGCCAGAGAGCTC -3'

Posted On

2020-01-23