Mutagenetix > Incidental Mutation

Incidental Mutation 'R2152:Tmc1'

234457

Institutional Source

Beutler Lab

Gene Symbol

Tmc1

Ensembl Gene

ENSMUSG00000024749

Gene Name

transmembrane channel-like gene family 1

Synonyms

Beethoven, Bth, 4933416G09Rik

MMRRC Submission

040155-MU

Accession Numbers

Essential gene?

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

Stock #

R2152 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20760822-20931566 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20834039 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 241 (N241K)

Ref Sequence

ENSEMBL: ENSMUSP00000040859 (fasta)

Gene Model

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

AlphaFold

Q8R4P5

Predicted Effect

probably benign
Transcript: ENSMUST00000039500
AA Change: N241K

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000040859
Gene: ENSMUSG00000024749
AA Change: N241K

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr3	A	T	1: 90,141,565 (GRCm39)	Y8F	probably benign	Het
Acy1	T	C	9: 106,312,816 (GRCm39)	E175G	probably damaging	Het
Add2	T	C	6: 86,075,580 (GRCm39)	L243P	probably damaging	Het
Adsl	A	G	15: 80,851,863 (GRCm39)	D407G	probably damaging	Het
Afg3l1	T	G	8: 124,221,575 (GRCm39)	I478S	probably damaging	Het
Aoc1l1	T	A	6: 48,953,473 (GRCm39)	I466N	probably damaging	Het
Arfrp1	T	C	2: 181,001,487 (GRCm39)	T108A	probably benign	Het
Art5	A	G	7: 101,747,407 (GRCm39)	L124P	possibly damaging	Het
Asap2	A	T	12: 21,162,084 (GRCm39)	T14S	probably damaging	Het
Atp2c2	A	G	8: 120,482,841 (GRCm39)	N901S	probably benign	Het
Bbs12	G	T	3: 37,375,309 (GRCm39)	E586*	probably null	Het
Bicd2	G	T	13: 49,533,052 (GRCm39)	C546F	probably damaging	Het
Bid	A	T	6: 120,877,215 (GRCm39)	L42Q	probably damaging	Het
Bpifb9a	A	G	2: 154,102,055 (GRCm39)	K51E	probably benign	Het
Calcr	G	T	6: 3,687,615 (GRCm39)	T424K	probably benign	Het
Cd46	A	G	1: 194,744,721 (GRCm39)	I339T	probably benign	Het
Chek1	C	A	9: 36,635,279 (GRCm39)	V35F	probably damaging	Het
Cntn3	A	G	6: 102,183,498 (GRCm39)	I719T	probably damaging	Het
Cyb5r1	T	C	1: 134,337,363 (GRCm39)	I163T	possibly damaging	Het
Cyp2d26	A	T	15: 82,676,907 (GRCm39)		probably null	Het
Dclk1	A	G	3: 55,154,633 (GRCm39)	Y21C	probably damaging	Het
Dgcr2	G	A	16: 17,709,351 (GRCm39)		probably null	Het
Dhx38	T	C	8: 110,287,306 (GRCm39)	S221G	probably benign	Het
Dis3l	T	A	9: 64,214,545 (GRCm39)	N981I	probably benign	Het
Dnah3	C	T	7: 119,551,236 (GRCm39)	V3028I	probably benign	Het
Dnah6	T	C	6: 73,026,149 (GRCm39)	Y3448C	probably benign	Het
Dok5	G	A	2: 170,642,816 (GRCm39)	G38D	probably damaging	Het
Epb41l1	A	G	2: 156,356,048 (GRCm39)	D528G	probably damaging	Het
Fat4	A	T	3: 39,037,544 (GRCm39)	Y3732F	probably damaging	Het
Fcsk	T	A	8: 111,615,704 (GRCm39)	T542S	probably benign	Het
Fgfr4	A	T	13: 55,314,777 (GRCm39)	Y640F	probably damaging	Het
Foxo6	T	A	4: 120,125,811 (GRCm39)	D328V	probably benign	Het
Foxp1	A	G	6: 98,993,502 (GRCm39)	L134P	probably damaging	Het
Frem2	G	A	3: 53,424,450 (GRCm39)	R2996*	probably null	Het
Garem2	T	C	5: 30,313,297 (GRCm39)	S54P	probably damaging	Het
Gcn1	T	A	5: 115,747,888 (GRCm39)	I1765N	probably benign	Het
Gm4787	T	A	12: 81,423,993 (GRCm39)	I722F	probably benign	Het
Gpc6	G	T	14: 117,163,504 (GRCm39)	A53S	probably benign	Het
Gtpbp8	A	G	16: 44,560,390 (GRCm39)		probably null	Het
H2-Q2	T	C	17: 35,564,252 (GRCm39)		probably null	Het
Hapln2	C	A	3: 87,930,920 (GRCm39)	R157L	probably benign	Het
Hemgn	C	A	4: 46,396,607 (GRCm39)	E210*	probably null	Het
Hpse	T	A	5: 100,839,269 (GRCm39)	K360*	probably null	Het
Iqcj	A	T	3: 67,962,643 (GRCm39)	E68V	probably damaging	Het
Kat2a	T	C	11: 100,603,172 (GRCm39)		probably benign	Het
Kat6b	A	T	14: 21,718,735 (GRCm39)	H1138L	probably benign	Het
Kcnab1	A	T	3: 65,278,861 (GRCm39)	I371F	probably damaging	Het
Klhl30	C	A	1: 91,285,546 (GRCm39)	A356D	probably benign	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Micu1	G	T	10: 59,699,110 (GRCm39)	M468I	probably benign	Het
Mrc1	A	G	2: 14,332,675 (GRCm39)	T1292A	probably damaging	Het
Myh8	G	A	11: 67,185,295 (GRCm39)	E849K	probably damaging	Het
Myom3	G	T	4: 135,530,544 (GRCm39)	R1152L	probably benign	Het
Nedd4l	T	A	18: 65,343,401 (GRCm39)	H820Q	probably damaging	Het
Nlrp4g	T	A	9: 124,353,339 (GRCm38)		noncoding transcript	Het
Oga	A	T	19: 45,746,461 (GRCm39)	Y779*	probably null	Het
Or13p5	C	T	4: 118,592,446 (GRCm39)	A240V	possibly damaging	Het
Or1m1	T	C	9: 18,666,391 (GRCm39)	D180G	probably damaging	Het
Or2a51	A	G	6: 43,179,003 (GRCm39)	I142V	probably benign	Het
Or51a39	G	T	7: 102,362,788 (GRCm39)	H277Q	probably benign	Het
Or52j3	A	T	7: 102,835,847 (GRCm39)	D13V	probably benign	Het
Or8b49	G	T	9: 38,505,707 (GRCm39)	L63F	probably damaging	Het
Or8g54	A	T	9: 39,706,943 (GRCm39)	I91F	probably benign	Het
Or9s23	T	C	1: 92,501,630 (GRCm39)	S246P	probably damaging	Het
Otop1	T	A	5: 38,460,194 (GRCm39)	M587K	probably damaging	Het
Pgm5	T	A	19: 24,812,179 (GRCm39)	I118F	probably damaging	Het
Phc2	A	G	4: 128,638,859 (GRCm39)	*41W	probably null	Het
Phf8-ps	T	A	17: 33,285,908 (GRCm39)	D298V	probably damaging	Het
Piezo2	A	T	18: 63,247,112 (GRCm39)	M532K	probably damaging	Het
Pjvk	A	T	2: 76,488,713 (GRCm39)	I295F	probably benign	Het
Popdc2	A	G	16: 38,183,482 (GRCm39)	N155S	possibly damaging	Het
Ppp4r3a	G	T	12: 101,008,826 (GRCm39)	N684K	probably damaging	Het
Prpf4b	T	A	13: 35,084,402 (GRCm39)	M930K	probably benign	Het
Ptpn12	C	A	5: 21,207,466 (GRCm39)	Q297H	probably damaging	Het
Ptprz1	C	A	6: 23,030,670 (GRCm39)	L1010I	probably damaging	Het
Rabepk	A	T	2: 34,674,562 (GRCm39)	D232E	possibly damaging	Het
Rad51ap2	A	G	12: 11,507,986 (GRCm39)	H636R	probably benign	Het
Rb1	T	C	14: 73,526,165 (GRCm39)	T169A	probably benign	Het
Rcc2	T	C	4: 140,444,428 (GRCm39)	L373P	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rrbp1	A	G	2: 143,796,118 (GRCm39)	L1200P	possibly damaging	Het
Sdk1	A	G	5: 141,778,699 (GRCm39)	N226D	probably damaging	Het
Selenbp1	G	A	3: 94,851,441 (GRCm39)	R398H	probably damaging	Het
Selenoo	A	G	15: 88,983,485 (GRCm39)	M509V	probably benign	Het
Sidt2	T	C	9: 45,856,638 (GRCm39)	D477G	probably damaging	Het
Slc2a5	T	G	4: 150,210,095 (GRCm39)	S27A	probably damaging	Het
Slc30a5	A	T	13: 100,940,457 (GRCm39)	H619Q	probably damaging	Het
Slc5a9	A	G	4: 111,750,420 (GRCm39)	I146T	possibly damaging	Het
Slc6a1	G	T	6: 114,284,731 (GRCm39)	G263V	probably damaging	Het
Slmap	A	G	14: 26,139,402 (GRCm39)	Y771H	probably damaging	Het
Snx29	A	G	16: 11,218,707 (GRCm39)	D181G	possibly damaging	Het
Spata31d1c	G	A	13: 65,181,779 (GRCm39)		probably null	Het
Stat5a	C	A	11: 100,764,916 (GRCm39)	T213N	probably benign	Het
Stt3a	A	T	9: 36,659,292 (GRCm39)	V349D	probably damaging	Het
Tcf20	A	T	15: 82,739,803 (GRCm39)	D549E	probably damaging	Het
Thbs2	T	A	17: 14,893,471 (GRCm39)	D903V	probably damaging	Het
Tln2	T	C	9: 67,209,842 (GRCm39)	T432A	probably damaging	Het
Tmem260	G	T	14: 48,715,066 (GRCm39)	R240L	possibly damaging	Het
Tnfaip6	A	T	2: 51,933,742 (GRCm39)	E32D	probably damaging	Het
Trpa1	A	T	1: 14,969,625 (GRCm39)	H381Q	probably damaging	Het
Tsen2	T	C	6: 115,524,936 (GRCm39)	I45T	possibly damaging	Het
Ttc6	G	A	12: 57,752,338 (GRCm39)	V1415I	probably damaging	Het
Ttll7	G	T	3: 146,635,944 (GRCm39)	R426L	probably damaging	Het
Ttn	A	C	2: 76,570,482 (GRCm39)	S26804A	probably damaging	Het
Ubqlnl	A	T	7: 103,797,890 (GRCm39)	C536S	probably benign	Het
Vmn2r73	A	G	7: 85,506,936 (GRCm39)	V792A	probably benign	Het
Zfp345	T	C	2: 150,314,578 (GRCm39)	T320A	probably benign	Het
Zfp407	T	C	18: 84,227,774 (GRCm39)	D1945G	possibly 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
R2067:Tmc1	UTSW	19	20,801,673 (GRCm39)	missense	possibly damaging	0.90
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'- TCTTTGGGATCCGAGCTCATC -3'
(R):5'- TGAGACCCCAAATGAGAAACTTTC -3'

Sequencing Primer
(F):5'- GGGATCCGAGCTCATCTTTAC -3'
(R):5'- CCAAATGAGAAACTTTCCAAAGGG -3'

Posted On

2014-10-01