Mutagenetix > Incidental Mutation

Incidental Mutation 'R1773:Tmc1'

196876

Institutional Source

Beutler Lab

Gene Symbol

Tmc1

Ensembl Gene

ENSMUSG00000024749

Gene Name

transmembrane channel-like gene family 1

Synonyms

Beethoven, Bth, 4933416G09Rik

MMRRC Submission

039804-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R1773 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20760822-20931566 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 20803865 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000040859 (fasta)

Gene Model

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

AlphaFold

Q8R4P5

Predicted Effect

probably null
Transcript: ENSMUST00000039500

SMART Domains

Protein: ENSMUSP00000040859
Gene: ENSMUSG00000024749

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: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.9%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	A	G	7: 27,280,020 (GRCm39)	K334E	probably damaging	Het
Abca12	A	G	1: 71,327,755 (GRCm39)	Y1442H	probably damaging	Het
Acot12	A	G	13: 91,905,676 (GRCm39)	T79A	probably benign	Het
Adipoq	A	C	16: 22,973,988 (GRCm39)	Q26P	unknown	Het
Afg2a	T	C	3: 37,493,334 (GRCm39)	F515L	probably damaging	Het
Akap13	T	A	7: 75,333,199 (GRCm39)	N1582K	possibly damaging	Het
Alg9	A	G	9: 50,690,396 (GRCm39)	T133A	probably benign	Het
Anks3	T	C	16: 4,765,158 (GRCm39)	T418A	probably benign	Het
Ano3	A	C	2: 110,591,800 (GRCm39)	L37R	probably damaging	Het
Ano9	A	G	7: 140,688,291 (GRCm39)	F178L	possibly damaging	Het
Arhgef12	A	G	9: 42,916,838 (GRCm39)		probably null	Het
Arl16	T	A	11: 120,356,589 (GRCm39)	I137F	possibly damaging	Het
Brpf1	T	A	6: 113,296,892 (GRCm39)	S959T	possibly damaging	Het
Ccdc27	C	T	4: 154,126,222 (GRCm39)	R89Q	unknown	Het
Cd109	A	C	9: 78,611,006 (GRCm39)	Q1207H	probably benign	Het
Cd14	A	T	18: 36,858,357 (GRCm39)	V366D	possibly damaging	Het
Cep290	G	A	10: 100,346,435 (GRCm39)	V538I	probably benign	Het
Cep57	G	A	9: 13,727,364 (GRCm39)	A202V	probably damaging	Het
Chl1	T	C	6: 103,624,292 (GRCm39)		probably null	Het
Cmah	T	G	13: 24,601,282 (GRCm39)	F29L	probably benign	Het
Cracd	G	T	5: 77,015,052 (GRCm39)	A42S	possibly damaging	Het
Crybg1	A	G	10: 43,868,544 (GRCm39)	V1378A	possibly damaging	Het
Cryzl2	A	G	1: 157,298,292 (GRCm39)	K227R	probably benign	Het
D130043K22Rik	T	G	13: 25,066,585 (GRCm39)	V794G	possibly damaging	Het
Ddx4	T	A	13: 112,736,436 (GRCm39)	T645S	probably benign	Het
Dhcr7	C	T	7: 143,401,195 (GRCm39)	R453C	possibly damaging	Het
Dhx8	T	C	11: 101,643,189 (GRCm39)	Y754H	possibly damaging	Het
Dip2b	T	A	15: 100,091,842 (GRCm39)	D860E	probably benign	Het
Dnah7a	T	C	1: 53,472,046 (GRCm39)		probably null	Het
Dst	A	G	1: 34,330,980 (GRCm39)	D6937G	probably damaging	Het
Dusp1	A	G	17: 26,726,081 (GRCm39)	I204T	probably damaging	Het
Dync2h1	T	A	9: 7,128,256 (GRCm39)	Q1859L	probably damaging	Het
E4f1	C	A	17: 24,665,558 (GRCm39)	G328V	probably damaging	Het
Eml5	T	C	12: 98,765,098 (GRCm39)	Y1617C	probably damaging	Het
Espn	G	T	4: 152,212,686 (GRCm39)	P622Q	probably damaging	Het
Fam184b	G	A	5: 45,741,676 (GRCm39)	P185L	possibly damaging	Het
Fn1	T	A	1: 71,676,542 (GRCm39)	D563V	probably damaging	Het
Gad2	A	G	2: 22,580,219 (GRCm39)	Y540C	probably benign	Het
Garin1b	T	C	6: 29,334,152 (GRCm39)	S335P	possibly damaging	Het
Gdf11	T	C	10: 128,727,163 (GRCm39)	D131G	probably damaging	Het
Gm19965	T	A	1: 116,748,989 (GRCm39)	Y223*	probably null	Het
H2-M10.6	A	G	17: 37,123,076 (GRCm39)	K3R	probably benign	Het
Hid1	A	G	11: 115,239,336 (GRCm39)	Y776H	probably damaging	Het
Hivep3	A	T	4: 119,956,034 (GRCm39)	K1450I	probably damaging	Het
Icam5	T	C	9: 20,944,821 (GRCm39)	L128P	possibly damaging	Het
Idnk	T	C	13: 58,305,526 (GRCm39)	V9A	probably damaging	Het
Il4ra	A	T	7: 125,166,354 (GRCm39)	T33S	possibly damaging	Het
Ino80	A	G	2: 119,248,890 (GRCm39)	V990A	probably benign	Het
Krtap4-9	T	C	11: 99,676,396 (GRCm39)		probably benign	Het
Lrrk2	A	G	15: 91,664,184 (GRCm39)	I1974V	possibly damaging	Het
Mcm3ap	C	T	10: 76,306,994 (GRCm39)	A369V	probably benign	Het
Nek6	A	G	2: 38,472,431 (GRCm39)	M252V	probably benign	Het
Nfasc	T	A	1: 132,538,577 (GRCm39)	I443F	probably damaging	Het
Nme8	T	G	13: 19,881,206 (GRCm39)	M1L	probably damaging	Het
Npnt	T	A	3: 132,610,454 (GRCm39)	Q423L	possibly damaging	Het
Nup133	A	T	8: 124,657,722 (GRCm39)	C404*	probably null	Het
Or2b7	T	C	13: 21,739,982 (GRCm39)	D70G	probably damaging	Het
Or4c124	A	G	2: 89,156,086 (GRCm39)	V146A	probably benign	Het
Or4f14b	A	G	2: 111,775,204 (GRCm39)	V199A	possibly damaging	Het
Or56a4	T	C	7: 104,806,190 (GRCm39)	E233G	probably benign	Het
Or5an1c	T	C	19: 12,219,023 (GRCm39)	M1V	probably null	Het
Or6c213	A	G	10: 129,574,312 (GRCm39)	L158S	probably damaging	Het
Otog	T	A	7: 45,937,583 (GRCm39)	I1764N	probably benign	Het
Oxa1l	A	G	14: 54,600,909 (GRCm39)	I127M	probably benign	Het
P4hb	C	A	11: 120,463,552 (GRCm39)	V28F	probably damaging	Het
Pbld2	C	T	10: 62,890,150 (GRCm39)	A186V	probably benign	Het
Pdzph1	G	T	17: 59,281,808 (GRCm39)	T158K	probably damaging	Het
Pgm2	T	A	5: 64,265,194 (GRCm39)		probably null	Het
Phip	A	T	9: 82,758,242 (GRCm39)	S1484T	probably benign	Het
Pikfyve	T	C	1: 65,231,430 (GRCm39)	L100P	probably damaging	Het
Pikfyve	T	C	1: 65,285,529 (GRCm39)	S923P	probably benign	Het
Pla2g4e	A	G	2: 120,075,202 (GRCm39)	S63P	probably benign	Het
Plekhh2	A	G	17: 84,906,693 (GRCm39)	E1176G	probably damaging	Het
Prlr	T	A	15: 10,325,404 (GRCm39)	Y192*	probably null	Het
Pten	T	A	19: 32,775,472 (GRCm39)	C71S	probably damaging	Het
Rbbp8nl	A	G	2: 179,922,987 (GRCm39)	L202P	probably benign	Het
Ripor2	T	A	13: 24,885,237 (GRCm39)	S491T	probably benign	Het
Robo1	A	T	16: 72,801,399 (GRCm39)	I1008F	probably benign	Het
Scg2	T	C	1: 79,413,352 (GRCm39)	N417S	probably benign	Het
Scn8a	A	G	15: 100,937,496 (GRCm39)	I1581V	probably damaging	Het
Slc22a8	T	A	19: 8,571,593 (GRCm39)	I108N	probably damaging	Het
Slc9a8	A	T	2: 167,313,385 (GRCm39)	T416S	possibly damaging	Het
Spata32	T	A	11: 103,099,644 (GRCm39)	E287V	probably damaging	Het
Tgfbrap1	C	T	1: 43,114,512 (GRCm39)	G196D	probably damaging	Het
Tgm5	G	T	2: 120,908,131 (GRCm39)	T15K	possibly damaging	Het
Tmem177	T	C	1: 119,838,306 (GRCm39)	I124M	possibly damaging	Het
Trim30a	A	G	7: 104,085,108 (GRCm39)	F34S	probably damaging	Het
Tsn	T	C	1: 118,232,969 (GRCm39)	T112A	probably benign	Het
Tspyl5	T	G	15: 33,686,922 (GRCm39)	N341T	probably benign	Het
Vmn2r108	C	T	17: 20,689,335 (GRCm39)	C540Y	probably damaging	Het
Vrtn	C	T	12: 84,696,998 (GRCm39)	R583W	probably damaging	Het
Wnt1	T	C	15: 98,689,638 (GRCm39)	S142P	probably damaging	Het
Wrn	A	T	8: 33,833,589 (GRCm39)	I108N	probably damaging	Het
Zfhx2	A	C	14: 55,310,348 (GRCm39)	C733G	possibly damaging	Het
Zfp219	T	C	14: 52,244,563 (GRCm39)	T539A	probably damaging	Het
Zswim8	T	A	14: 20,761,598 (GRCm39)	M177K	probably damaging	Het

Other mutations in Tmc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01639:Tmc1	APN	19	20,793,556 (GRCm39)	missense	probably damaging	1.00
IGL02104:Tmc1	APN	19	20,809,818 (GRCm39)	missense	probably benign	0.00
IGL02245:Tmc1	APN	19	20,776,556 (GRCm39)	missense	probably damaging	1.00
IGL02544:Tmc1	APN	19	20,884,327 (GRCm39)	missense	probably benign	0.04
IGL02699:Tmc1	APN	19	20,809,714 (GRCm39)	critical splice donor site	probably null
IGL02974:Tmc1	APN	19	20,878,208 (GRCm39)	missense	probably benign
IGL03194:Tmc1	APN	19	20,782,017 (GRCm39)	missense	probably damaging	1.00
dinner_bell	UTSW	19	20,772,880 (GRCm39)	missense	probably damaging	0.99
R0255:Tmc1	UTSW	19	20,766,951 (GRCm39)	missense	possibly damaging	0.93
R0381:Tmc1	UTSW	19	20,776,409 (GRCm39)	missense	probably damaging	1.00
R0655:Tmc1	UTSW	19	20,776,540 (GRCm39)	missense	probably damaging	1.00
R1404:Tmc1	UTSW	19	20,793,548 (GRCm39)	missense	possibly damaging	0.79
R1404:Tmc1	UTSW	19	20,793,548 (GRCm39)	missense	possibly damaging	0.79
R1496:Tmc1	UTSW	19	20,845,719 (GRCm39)	missense	probably damaging	1.00
R1542:Tmc1	UTSW	19	20,793,486 (GRCm39)	missense	probably damaging	1.00
R1777:Tmc1	UTSW	19	20,793,473 (GRCm39)	critical splice donor site	probably null
R2067:Tmc1	UTSW	19	20,801,673 (GRCm39)	missense	possibly damaging	0.90
R2152:Tmc1	UTSW	19	20,834,039 (GRCm39)	missense	probably benign	0.01
R2180:Tmc1	UTSW	19	20,801,448 (GRCm39)	missense	probably damaging	0.96
R2204:Tmc1	UTSW	19	20,918,269 (GRCm39)	missense	probably benign	0.01
R2205:Tmc1	UTSW	19	20,918,269 (GRCm39)	missense	probably benign	0.01
R2285:Tmc1	UTSW	19	20,767,163 (GRCm39)	missense	probably damaging	0.96
R4505:Tmc1	UTSW	19	20,845,738 (GRCm39)	missense	probably benign	0.00
R4752:Tmc1	UTSW	19	20,804,013 (GRCm39)	missense	probably benign	0.35
R4975:Tmc1	UTSW	19	20,884,319 (GRCm39)	missense	probably damaging	0.96
R5040:Tmc1	UTSW	19	20,801,394 (GRCm39)	missense	possibly damaging	0.68
R5206:Tmc1	UTSW	19	20,804,024 (GRCm39)	missense	probably damaging	1.00
R5400:Tmc1	UTSW	19	20,781,966 (GRCm39)	missense	probably damaging	1.00
R5429:Tmc1	UTSW	19	20,766,986 (GRCm39)	missense	possibly damaging	0.72
R6200:Tmc1	UTSW	19	20,766,954 (GRCm39)	missense	possibly damaging	0.53
R6784:Tmc1	UTSW	19	20,805,015 (GRCm39)	critical splice donor site	probably null
R6796:Tmc1	UTSW	19	20,776,400 (GRCm39)	missense	probably damaging	1.00
R6808:Tmc1	UTSW	19	20,772,880 (GRCm39)	missense	probably damaging	0.99
R6812:Tmc1	UTSW	19	20,878,225 (GRCm39)	missense	probably damaging	1.00
R6834:Tmc1	UTSW	19	20,772,974 (GRCm39)	nonsense	probably null
R6978:Tmc1	UTSW	19	20,781,999 (GRCm39)	missense	probably damaging	1.00
R6986:Tmc1	UTSW	19	20,801,647 (GRCm39)	missense	probably benign	0.02
R7027:Tmc1	UTSW	19	20,918,267 (GRCm39)	critical splice donor site	probably null
R7378:Tmc1	UTSW	19	20,845,753 (GRCm39)	missense	probably damaging	0.98
R7520:Tmc1	UTSW	19	20,776,542 (GRCm39)	missense	probably damaging	0.99
R7573:Tmc1	UTSW	19	20,884,372 (GRCm39)	missense	probably damaging	0.98
R7825:Tmc1	UTSW	19	20,782,009 (GRCm39)	missense	possibly damaging	0.55
R8024:Tmc1	UTSW	19	20,878,181 (GRCm39)	missense	probably damaging	1.00
R8073:Tmc1	UTSW	19	20,845,725 (GRCm39)	missense	probably benign	0.08
R8786:Tmc1	UTSW	19	20,803,953 (GRCm39)	missense	probably damaging	1.00
R8791:Tmc1	UTSW	19	20,767,209 (GRCm39)	missense	probably benign	0.00
R8969:Tmc1	UTSW	19	20,793,593 (GRCm39)	missense	probably damaging	1.00
R8973:Tmc1	UTSW	19	20,878,215 (GRCm39)	missense	probably benign
R9429:Tmc1	UTSW	19	20,793,548 (GRCm39)	missense	possibly damaging	0.79
R9493:Tmc1	UTSW	19	20,801,644 (GRCm39)	missense	probably benign	0.00
Z1176:Tmc1	UTSW	19	20,803,870 (GRCm39)	missense	probably null	1.00
Z1177:Tmc1	UTSW	19	20,801,346 (GRCm39)	missense	probably damaging	1.00
Z1177:Tmc1	UTSW	19	20,772,972 (GRCm39)	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- GGCAGGCAGTATGATGCTTCCTATG -3'
(R):5'- TGGAGGAGAACATCCACCTCATCAG -3'

Sequencing Primer
(F):5'- GAATCAGGAGCTGGCATTTC -3'
(R):5'- AGATTTCTGAGGTTTCTCGCTAAC -3'

Posted On

2014-05-23