Mutagenetix > Incidental Mutation

Incidental Mutation 'R2067:Tmc1'

226804

Institutional Source

Beutler Lab

Gene Symbol

Tmc1

Ensembl Gene

ENSMUSG00000024749

Gene Name

transmembrane channel-like gene family 1

Synonyms

Beethoven, Bth, 4933416G09Rik

MMRRC Submission

040072-MU

Accession Numbers

Essential gene?

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

Stock #

R2067 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20760822-20931566 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20801673 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 451 (F451S)

Ref Sequence

ENSEMBL: ENSMUSP00000040859 (fasta)

Gene Model

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

AlphaFold

Q8R4P5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039500
AA Change: F451S

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000040859
Gene: ENSMUSG00000024749
AA Change: F451S

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

Meta Mutation Damage Score

0.6318

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (76/78)

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
9530002B09Rik	T	A	4: 122,583,115 (GRCm39)		probably benign	Het
Abca2	A	T	2: 25,327,517 (GRCm39)	I669F	possibly damaging	Het
Acin1	T	A	14: 54,902,711 (GRCm39)	Q360H	probably damaging	Het
Aldh3b1	T	A	19: 3,971,755 (GRCm39)	D72V	probably benign	Het
Alox12e	G	A	11: 70,206,828 (GRCm39)	R620W	probably damaging	Het
Alpl	T	C	4: 137,476,856 (GRCm39)		probably benign	Het
Amy2a1	T	C	3: 113,324,217 (GRCm39)	I108V	probably benign	Het
Ascc2	A	T	11: 4,631,496 (GRCm39)	M646L	probably benign	Het
Bod1l	G	A	5: 41,974,429 (GRCm39)	T2295M	probably benign	Het
Ccdc9	A	T	7: 16,012,475 (GRCm39)		probably null	Het
Clptm1l	C	T	13: 73,755,842 (GRCm39)	Q153*	probably null	Het
Csmd1	A	G	8: 15,950,782 (GRCm39)	S3476P	probably benign	Het
Ddias	A	T	7: 92,508,907 (GRCm39)	M336K	possibly damaging	Het
Ehd1	T	C	19: 6,348,108 (GRCm39)	L362P	probably benign	Het
Epha1	G	T	6: 42,342,987 (GRCm39)	H187Q	probably benign	Het
Espl1	T	C	15: 102,207,525 (GRCm39)	S330P	probably damaging	Het
Fbln7	G	T	2: 128,719,386 (GRCm39)	R61L	probably damaging	Het
Fbxo41	C	T	6: 85,455,453 (GRCm39)	W577*	probably null	Het
Fgb	C	A	3: 82,956,996 (GRCm39)	D25Y	probably benign	Het
Gc	T	A	5: 89,594,376 (GRCm39)	K37N	probably damaging	Het
Gfpt1	T	C	6: 87,034,736 (GRCm39)	I178T	probably benign	Het
Gm12695	T	C	4: 96,657,963 (GRCm39)	T69A	probably benign	Het
Gm3944	C	A	12: 18,903,895 (GRCm39)	S8*	probably null	Het
Gm9912	T	C	3: 148,890,795 (GRCm39)	T113A	unknown	Het
Gpr156	A	G	16: 37,799,113 (GRCm39)	D109G	probably benign	Het
Hoxd1	A	T	2: 74,593,710 (GRCm39)	T89S	probably benign	Het
Htt	C	T	5: 34,983,326 (GRCm39)	T975I	probably benign	Het
Itpr3	G	A	17: 27,317,050 (GRCm39)	M768I	probably benign	Het
Krt4	C	A	15: 101,833,099 (GRCm39)	A3S	possibly damaging	Het
Mrto4	T	C	4: 139,076,334 (GRCm39)	K86E	probably benign	Het
Mup4	T	A	4: 59,960,622 (GRCm39)		probably benign	Het
Myh1	G	A	11: 67,105,446 (GRCm39)	D1079N	possibly damaging	Het
Myo1a	A	G	10: 127,541,347 (GRCm39)	N43D	probably benign	Het
Napa	A	T	7: 15,849,203 (GRCm39)		probably benign	Het
Ndufa12	A	G	10: 94,056,569 (GRCm39)	D99G	probably damaging	Het
Neb	A	G	2: 52,174,275 (GRCm39)	I1528T	probably benign	Het
Nek1	T	C	8: 61,460,196 (GRCm39)	S41P	probably damaging	Het
Nolc1	C	T	19: 46,072,046 (GRCm39)	T612M	probably damaging	Het
Nsun5	T	G	5: 135,403,926 (GRCm39)	Y301D	probably damaging	Het
Oas1g	T	C	5: 121,023,946 (GRCm39)	E121G	probably damaging	Het
Or1e1f	A	G	11: 73,855,740 (GRCm39)	Y102C	probably damaging	Het
Or2ab1	A	G	11: 58,488,396 (GRCm39)	N58S	probably damaging	Het
Or5d41	A	G	2: 88,054,818 (GRCm39)	V186A	possibly damaging	Het
Or6ae1	T	A	7: 139,742,822 (GRCm39)	I14F	possibly damaging	Het
Or8b46	T	A	9: 38,450,576 (GRCm39)	N128K	probably benign	Het
Or8k38	G	T	2: 86,488,781 (GRCm39)	T7K	probably damaging	Het
Osmr	T	C	15: 6,844,896 (GRCm39)	N957D	probably benign	Het
Parn	G	A	16: 13,420,933 (GRCm39)	S473L	probably damaging	Het
Phc2	T	C	4: 128,640,929 (GRCm39)	F672S	probably damaging	Het
Pik3c2b	T	C	1: 133,027,349 (GRCm39)	S1283P	probably damaging	Het
Pole2	G	A	12: 69,274,926 (GRCm39)	R5W	probably benign	Het
Prl7a2	T	A	13: 27,844,870 (GRCm39)	Y172F	probably damaging	Het
Ptprz1	A	G	6: 23,050,388 (GRCm39)		probably benign	Het
Rapgef3	C	A	15: 97,664,842 (GRCm39)	G7V	probably damaging	Het
Ripor1	T	A	8: 106,344,340 (GRCm39)	S491R	probably benign	Het
Rnf141	A	G	7: 110,420,572 (GRCm39)		probably benign	Het
Ryr3	C	T	2: 112,777,302 (GRCm39)	R285Q	probably damaging	Het
Sall4	T	C	2: 168,598,465 (GRCm39)	N125S	probably benign	Het
Schip1	A	G	3: 68,525,119 (GRCm39)	K360R	probably damaging	Het
Senp6	T	A	9: 79,997,151 (GRCm39)	V55E	probably benign	Het
Skint1	T	A	4: 111,882,730 (GRCm39)	V258D	probably benign	Het
Slc25a16	T	A	10: 62,768,530 (GRCm39)	H130Q	probably benign	Het
Styx	T	C	14: 45,611,020 (GRCm39)	V217A	probably benign	Het
Syne2	G	A	12: 75,935,116 (GRCm39)		probably null	Het
Tagap1	A	G	17: 7,224,259 (GRCm39)	S146P	probably benign	Het
Tatdn2	A	G	6: 113,681,103 (GRCm39)	K379E	probably benign	Het
Thrap3	T	C	4: 126,069,189 (GRCm39)	Y654C	possibly damaging	Het
Tle2	T	C	10: 81,416,385 (GRCm39)	L135P	probably damaging	Het
Trpm7	G	A	2: 126,639,647 (GRCm39)	P1650S	probably damaging	Het
Ttll4	G	A	1: 74,719,541 (GRCm39)	R16H	possibly damaging	Het
Ttn	T	C	2: 76,544,717 (GRCm39)	N32795S	probably damaging	Het
Tubgcp6	T	C	15: 88,988,692 (GRCm39)	E803G	probably benign	Het
Ubr2	A	G	17: 47,274,071 (GRCm39)		probably null	Het
Ugt2b35	A	G	5: 87,149,412 (GRCm39)	D221G	probably damaging	Het
Unc45b	G	A	11: 82,802,515 (GRCm39)	A4T	probably benign	Het
Vmn1r70	A	T	7: 10,368,264 (GRCm39)	I251F	possibly damaging	Het
Vmn2r120	T	A	17: 57,831,553 (GRCm39)	H412L	possibly damaging	Het
Zfp59	A	G	7: 27,552,935 (GRCm39)	N129S	probably benign	Het
Zgrf1	T	C	3: 127,406,999 (GRCm39)	C1589R	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
R1773:Tmc1	UTSW	19	20,803,865 (GRCm39)	splice site	probably null
R1777:Tmc1	UTSW	19	20,793,473 (GRCm39)	critical splice donor site	probably null
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'- AAGCCTTAATCATGTTGGCTTCC -3'
(R):5'- GAAAACCTTTCCAACCGTGTC -3'

Sequencing Primer
(F):5'- CAGGGTAATATTGGCCTTCACAAGC -3'
(R):5'- ACCGTGTCTCCTTGTAGATGAACATG -3'

Posted On

2014-09-17