Mutagenetix > Incidental Mutation

Incidental Mutation 'R0255:Tmc1'

34721

Institutional Source

Beutler Lab

Gene Symbol

Tmc1

Ensembl Gene

ENSMUSG00000024749

Gene Name

transmembrane channel-like gene family 1

Synonyms

4933416G09Rik, Beethoven, Bth

MMRRC Submission

038486-MU

Accession Numbers

Essential gene?

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

Stock #

R0255 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20783458-20954202 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 20789587 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 750 (A750E)

Ref Sequence

ENSEMBL: ENSMUSP00000040859 (fasta)

Gene Model

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

AlphaFold

Q8R4P5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039500
AA Change: A750E

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000040859
Gene: ENSMUSG00000024749
AA Change: A750E

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

0.1155

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.6%

Validation Efficiency

93% (102/110)

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
1700113H08Rik	T	C	10: 87,226,045 (GRCm38)	F119S	probably damaging	Het
Abca13	C	A	11: 9,581,545 (GRCm38)	Q4591K	probably damaging	Het
Anapc1	A	T	2: 128,634,711 (GRCm38)	M1329K	probably damaging	Het
Aoah	A	T	13: 20,979,540 (GRCm38)	K338*	probably null	Het
Ascc3	A	T	10: 50,645,058 (GRCm38)	T416S	probably benign	Het
Baz2a	A	G	10: 128,114,639 (GRCm38)	T484A	possibly damaging	Het
Btnl6	T	C	17: 34,508,503 (GRCm38)	N351S	probably benign	Het
Cacna1s	T	G	1: 136,118,806 (GRCm38)	I1772S	possibly damaging	Het
Ccdc8	A	G	7: 16,995,657 (GRCm38)	D357G	unknown	Het
Ccna1	T	C	3: 55,050,628 (GRCm38)	E152G	probably damaging	Het
Cct4	A	G	11: 22,999,073 (GRCm38)	D273G	probably damaging	Het
Cd9	A	G	6: 125,463,740 (GRCm38)	V96A	probably damaging	Het
Cdc5l	G	A	17: 45,415,684 (GRCm38)	R321W	probably damaging	Het
Cdh7	T	C	1: 109,994,306 (GRCm38)	S43P	probably benign	Het
Cep95	G	A	11: 106,811,271 (GRCm38)	V365M	probably benign	Het
Ces1c	T	C	8: 93,127,524 (GRCm38)	T128A	probably benign	Het
Chil5	A	G	3: 106,019,267 (GRCm38)	V82A	probably damaging	Het
Clmn	T	C	12: 104,781,764 (GRCm38)	D508G	probably benign	Het
Cog8	A	T	8: 107,049,145 (GRCm38)		probably benign	Het
Cst3	A	T	2: 148,875,169 (GRCm38)	V70E	probably damaging	Het
Ctcf	A	G	8: 105,664,039 (GRCm38)	T93A	possibly damaging	Het
Ctsk	C	A	3: 95,508,877 (GRCm38)	N315K	probably benign	Het
Cyp2j12	G	T	4: 96,141,025 (GRCm38)	D6E	probably benign	Het
Dhx34	A	G	7: 16,205,992 (GRCm38)	V655A	probably benign	Het
Dock10	T	C	1: 80,605,876 (GRCm38)	Y203C	probably damaging	Het
Dok7	A	T	5: 35,064,334 (GRCm38)	D26V	probably damaging	Het
Epha8	G	A	4: 136,940,286 (GRCm38)	H295Y	probably damaging	Het
Esf1	A	G	2: 140,148,923 (GRCm38)		probably benign	Het
Fam83c	A	G	2: 155,829,752 (GRCm38)	S588P	probably benign	Het
Fat3	G	A	9: 15,969,706 (GRCm38)		probably benign	Het
Fhdc1	T	C	3: 84,453,510 (GRCm38)		probably benign	Het
Frmd4b	A	G	6: 97,308,086 (GRCm38)	V338A	probably damaging	Het
Fsd1l	A	G	4: 53,694,727 (GRCm38)	T394A	probably damaging	Het
Gbf1	A	G	19: 46,254,110 (GRCm38)		probably benign	Het
Glg1	G	T	8: 111,159,858 (GRCm38)	Q1101K	possibly damaging	Het
Glt8d2	T	A	10: 82,651,527 (GRCm38)		probably null	Het
Gm19345	T	C	7: 19,854,930 (GRCm38)		probably benign	Het
Gpr179	A	T	11: 97,336,066 (GRCm38)	D1754E	probably benign	Het
Hydin	A	G	8: 110,565,018 (GRCm38)	T3381A	probably benign	Het
Igkv12-41	G	A	6: 69,858,838 (GRCm38)	T16I	possibly damaging	Het
Insl5	A	G	4: 103,018,116 (GRCm38)	*146Q	probably null	Het
Iqce	A	T	5: 140,666,202 (GRCm38)	I655N	possibly damaging	Het
Irf2bp1	G	A	7: 19,005,002 (GRCm38)	R189H	possibly damaging	Het
Itprid2	T	A	2: 79,660,466 (GRCm38)	L976Q	probably damaging	Het
Itsn1	C	T	16: 91,806,090 (GRCm38)		probably benign	Het
Kansl3	A	T	1: 36,344,969 (GRCm38)	I724N	probably benign	Het
Kcna4	T	C	2: 107,296,562 (GRCm38)	I547T	probably damaging	Het
Klk1b4	A	T	7: 44,210,734 (GRCm38)	I91F	probably benign	Het
Lmbr1	A	G	5: 29,252,755 (GRCm38)	S282P	probably damaging	Het
Lrrc17	G	A	5: 21,560,969 (GRCm38)	A150T	probably benign	Het
Lrrc2	A	G	9: 110,980,898 (GRCm38)	E334G	possibly damaging	Het
Lrrc7	G	A	3: 158,160,838 (GRCm38)	Q1077*	probably null	Het
Mapk8	A	T	14: 33,387,307 (GRCm38)		probably benign	Het
Mast1	T	A	8: 84,912,021 (GRCm38)	T1560S	probably benign	Het
Mdh1b	C	A	1: 63,719,618 (GRCm38)	A272S	probably damaging	Het
Myo15b	T	C	11: 115,886,283 (GRCm38)	Y912H	probably damaging	Het
Nf1	T	G	11: 79,408,699 (GRCm38)		probably null	Het
Nme7	T	A	1: 164,345,375 (GRCm38)	D218E	probably damaging	Het
Nsun7	T	A	5: 66,289,408 (GRCm38)		probably benign	Het
Nxpe2	A	G	9: 48,340,570 (GRCm38)		probably null	Het
Or1e34	A	G	11: 73,887,829 (GRCm38)	V181A	probably benign	Het
Or2ag16	G	A	7: 106,752,989 (GRCm38)	T133I	probably benign	Het
Or2n1c	T	G	17: 38,208,395 (GRCm38)	I50R	probably benign	Het
Or5p53	T	A	7: 107,934,168 (GRCm38)	V216D	probably damaging	Het
P2ry1	T	C	3: 61,003,530 (GRCm38)	V30A	probably benign	Het
Pgm1	T	A	5: 64,112,043 (GRCm38)	I491N	possibly damaging	Het
Pkd1l3	A	T	8: 109,638,754 (GRCm38)	D1169V	probably damaging	Het
Poldip2	T	A	11: 78,512,363 (GRCm38)	S18T	probably benign	Het
Prg4	C	T	1: 150,455,807 (GRCm38)		probably benign	Het
Prkab2	T	A	3: 97,667,412 (GRCm38)	Y241*	probably null	Het
Prmt7	A	G	8: 106,227,207 (GRCm38)		probably benign	Het
Proser3	T	A	7: 30,546,417 (GRCm38)	R80W	probably damaging	Het
Prr12	A	G	7: 45,049,991 (GRCm38)		probably benign	Het
Psmd1	A	T	1: 86,078,582 (GRCm38)	L223F	probably damaging	Het
Rab13	A	G	3: 90,223,781 (GRCm38)		probably benign	Het
Rgl1	C	T	1: 152,552,596 (GRCm38)	C294Y	probably damaging	Het
Rpl21-ps4	C	A	14: 11,227,556 (GRCm38)		noncoding transcript	Het
Rusc2	T	C	4: 43,423,954 (GRCm38)	V1036A	probably damaging	Het
Sae1	T	A	7: 16,370,322 (GRCm38)	K121*	probably null	Het
Sap130	C	T	18: 31,680,506 (GRCm38)	P539S	probably damaging	Het
Saxo4	C	T	19: 10,475,054 (GRCm38)	R364Q	probably damaging	Het
Scube2	A	G	7: 109,824,872 (GRCm38)	L475P	probably damaging	Het
Sec16a	T	C	2: 26,431,186 (GRCm38)	D1298G	probably damaging	Het
Serpinb9b	T	C	13: 33,038,020 (GRCm38)	F206L	probably benign	Het
Sh3bp1	T	A	15: 78,904,334 (GRCm38)	Y202*	probably null	Het
Shprh	T	A	10: 11,186,391 (GRCm38)	C1177S	possibly damaging	Het
Slc27a6	T	C	18: 58,609,865 (GRCm38)	Y542H	possibly damaging	Het
Slc41a1	T	C	1: 131,843,912 (GRCm38)		probably benign	Het
Slc46a1	T	C	11: 78,470,799 (GRCm38)	F424L	probably damaging	Het
Slc66a2	C	T	18: 80,263,518 (GRCm38)	A101V	probably benign	Het
Slc6a12	G	A	6: 121,356,918 (GRCm38)	V238I	probably damaging	Het
Slc6a20a	A	G	9: 123,664,621 (GRCm38)	V65A	probably damaging	Het
Slc9c1	T	A	16: 45,554,300 (GRCm38)	S343T	probably benign	Het
Spcs3	C	A	8: 54,528,380 (GRCm38)	R60I	probably benign	Het
Tbc1d16	C	A	11: 119,147,575 (GRCm38)	R764L	possibly damaging	Het
Tcaf2	A	T	6: 42,642,904 (GRCm38)	V63E	possibly damaging	Het
Tmem273	A	G	14: 32,808,363 (GRCm38)	K83E	possibly damaging	Het
Tmem81	C	G	1: 132,507,829 (GRCm38)	I124M	probably damaging	Het
Tmx3	T	C	18: 90,540,006 (GRCm38)	I394T	probably damaging	Het
Trank1	G	A	9: 111,366,024 (GRCm38)	E1039K	possibly damaging	Het
Trpc4ap	A	G	2: 155,657,946 (GRCm38)		probably benign	Het
Tsen54	T	C	11: 115,815,408 (GRCm38)	C123R	probably damaging	Het
Ubtd1	A	G	19: 42,031,934 (GRCm38)	D39G	possibly damaging	Het
Vmn1r181	A	T	7: 23,984,334 (GRCm38)	M75L	probably benign	Het
Zc3h7a	T	C	16: 11,140,737 (GRCm38)	T847A	probably damaging	Het
Zc3hav1	A	G	6: 38,336,550 (GRCm38)	C187R	probably damaging	Het
Zfp692	G	A	11: 58,310,403 (GRCm38)		probably benign	Het
Zmiz1	G	A	14: 25,654,495 (GRCm38)		probably benign	Het

Other mutations in Tmc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01639:Tmc1	APN	19	20,816,192 (GRCm38)	missense	probably damaging	1.00
IGL02104:Tmc1	APN	19	20,832,454 (GRCm38)	missense	probably benign	0.00
IGL02245:Tmc1	APN	19	20,799,192 (GRCm38)	missense	probably damaging	1.00
IGL02544:Tmc1	APN	19	20,906,963 (GRCm38)	missense	probably benign	0.04
IGL02699:Tmc1	APN	19	20,832,350 (GRCm38)	critical splice donor site	probably null
IGL02974:Tmc1	APN	19	20,900,844 (GRCm38)	missense	probably benign
IGL03194:Tmc1	APN	19	20,804,653 (GRCm38)	missense	probably damaging	1.00
dinner_bell	UTSW	19	20,795,516 (GRCm38)	missense	probably damaging	0.99
R0381:Tmc1	UTSW	19	20,799,045 (GRCm38)	missense	probably damaging	1.00
R0655:Tmc1	UTSW	19	20,799,176 (GRCm38)	missense	probably damaging	1.00
R1404:Tmc1	UTSW	19	20,816,184 (GRCm38)	missense	possibly damaging	0.79
R1404:Tmc1	UTSW	19	20,816,184 (GRCm38)	missense	possibly damaging	0.79
R1496:Tmc1	UTSW	19	20,868,355 (GRCm38)	missense	probably damaging	1.00
R1542:Tmc1	UTSW	19	20,816,122 (GRCm38)	missense	probably damaging	1.00
R1773:Tmc1	UTSW	19	20,826,501 (GRCm38)	splice site	probably null
R1777:Tmc1	UTSW	19	20,816,109 (GRCm38)	critical splice donor site	probably null
R2067:Tmc1	UTSW	19	20,824,309 (GRCm38)	missense	possibly damaging	0.90
R2152:Tmc1	UTSW	19	20,856,675 (GRCm38)	missense	probably benign	0.01
R2180:Tmc1	UTSW	19	20,824,084 (GRCm38)	missense	probably damaging	0.96
R2204:Tmc1	UTSW	19	20,940,905 (GRCm38)	missense	probably benign	0.01
R2205:Tmc1	UTSW	19	20,940,905 (GRCm38)	missense	probably benign	0.01
R2285:Tmc1	UTSW	19	20,789,799 (GRCm38)	missense	probably damaging	0.96
R4505:Tmc1	UTSW	19	20,868,374 (GRCm38)	missense	probably benign	0.00
R4752:Tmc1	UTSW	19	20,826,649 (GRCm38)	missense	probably benign	0.35
R4975:Tmc1	UTSW	19	20,906,955 (GRCm38)	missense	probably damaging	0.96
R5040:Tmc1	UTSW	19	20,824,030 (GRCm38)	missense	possibly damaging	0.68
R5206:Tmc1	UTSW	19	20,826,660 (GRCm38)	missense	probably damaging	1.00
R5400:Tmc1	UTSW	19	20,804,602 (GRCm38)	missense	probably damaging	1.00
R5429:Tmc1	UTSW	19	20,789,622 (GRCm38)	missense	possibly damaging	0.72
R6200:Tmc1	UTSW	19	20,789,590 (GRCm38)	missense	possibly damaging	0.53
R6784:Tmc1	UTSW	19	20,827,651 (GRCm38)	critical splice donor site	probably null
R6796:Tmc1	UTSW	19	20,799,036 (GRCm38)	missense	probably damaging	1.00
R6808:Tmc1	UTSW	19	20,795,516 (GRCm38)	missense	probably damaging	0.99
R6812:Tmc1	UTSW	19	20,900,861 (GRCm38)	missense	probably damaging	1.00
R6834:Tmc1	UTSW	19	20,795,610 (GRCm38)	nonsense	probably null
R6978:Tmc1	UTSW	19	20,804,635 (GRCm38)	missense	probably damaging	1.00
R6986:Tmc1	UTSW	19	20,824,283 (GRCm38)	missense	probably benign	0.02
R7027:Tmc1	UTSW	19	20,940,903 (GRCm38)	critical splice donor site	probably null
R7378:Tmc1	UTSW	19	20,868,389 (GRCm38)	missense	probably damaging	0.98
R7520:Tmc1	UTSW	19	20,799,178 (GRCm38)	missense	probably damaging	0.99
R7573:Tmc1	UTSW	19	20,907,008 (GRCm38)	missense	probably damaging	0.98
R7825:Tmc1	UTSW	19	20,804,645 (GRCm38)	missense	possibly damaging	0.55
R8024:Tmc1	UTSW	19	20,900,817 (GRCm38)	missense	probably damaging	1.00
R8073:Tmc1	UTSW	19	20,868,361 (GRCm38)	missense	probably benign	0.08
R8786:Tmc1	UTSW	19	20,826,589 (GRCm38)	missense	probably damaging	1.00
R8791:Tmc1	UTSW	19	20,789,845 (GRCm38)	missense	probably benign	0.00
R8969:Tmc1	UTSW	19	20,816,229 (GRCm38)	missense	probably damaging	1.00
R8973:Tmc1	UTSW	19	20,900,851 (GRCm38)	missense	probably benign
R9429:Tmc1	UTSW	19	20,816,184 (GRCm38)	missense	possibly damaging	0.79
R9493:Tmc1	UTSW	19	20,824,280 (GRCm38)	missense	probably benign	0.00
Z1176:Tmc1	UTSW	19	20,826,506 (GRCm38)	missense	probably null	1.00
Z1177:Tmc1	UTSW	19	20,823,982 (GRCm38)	missense	probably damaging	1.00
Z1177:Tmc1	UTSW	19	20,795,608 (GRCm38)	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- ATCAACGCCTCAGATAGATGCTTGG -3'
(R):5'- CAGAAAGCAGCGAATCTGGACCTC -3'

Sequencing Primer
(F):5'- TGCTTGGGAAGATCTGAGATAATG -3'
(R):5'- GCGAATCTGGACCTCAAAAAG -3'

Posted On

2013-05-09