Mutagenetix > Incidental Mutation

Incidental Mutation 'R6834:Tmc1'

534536

Institutional Source

Beutler Lab

Gene Symbol

Tmc1

Ensembl Gene

ENSMUSG00000024749

Gene Name

transmembrane channel-like gene family 1

Synonyms

4933416G09Rik, Beethoven, Bth

MMRRC Submission

044943-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.220) question?

Stock #

R6834 (G1)

Quality Score

202.009

Status

Not validated

Chromosome

Chromosomal Location

20783458-20954202 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 20795610 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 676 (E676*)

Ref Sequence

ENSEMBL: ENSMUSP00000040859 (fasta)

Gene Model

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

AlphaFold

Q8R4P5

Predicted Effect

probably null
Transcript: ENSMUST00000039500
AA Change: E676*

SMART Domains

Protein: ENSMUSP00000040859
Gene: ENSMUSG00000024749
AA Change: E676*

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

0.9717

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,275,110	W530R	possibly damaging	Het
Aco1	A	G	4: 40,164,747	K79R	probably benign	Het
Adam15	C	T	3: 89,340,083	G426R	probably damaging	Het
Angptl1	A	T	1: 156,844,693	I30L	probably benign	Het
Ankrd35	A	G	3: 96,683,283	E295G	possibly damaging	Het
Ap5m1	T	A	14: 49,073,737	V88E	probably damaging	Het
Astn1	A	T	1: 158,664,122	Q47L	probably benign	Het
Atf6b	T	C	17: 34,649,157	S135P	probably damaging	Het
AU018091	T	A	7: 3,157,955	I589F	probably benign	Het
BC052040	T	C	2: 115,674,784	S179P	probably benign	Het
Cenpf	T	C	1: 189,659,446	K730E	probably damaging	Het
Chrna6	C	T	8: 27,408,310		probably null	Het
Dmxl1	A	T	18: 49,955,823	I2790F	probably damaging	Het
Ell	A	G	8: 70,579,134	D116G	probably damaging	Het
Eml5	A	T	12: 98,887,024	H105Q	probably damaging	Het
Epb41l2	T	A	10: 25,493,604	V23D	possibly damaging	Het
Gatad2b	T	A	3: 90,348,643	S139T	probably benign	Het
Glb1l	A	G	1: 75,201,753	V347A	possibly damaging	Het
Gm4846	A	T	1: 166,494,578	I140N	possibly damaging	Het
Gm7534	A	C	4: 134,193,165	V563G	possibly damaging	Het
Gm9268	G	C	7: 43,023,580	A143P	probably damaging	Het
Gng11	A	G	6: 4,008,068	I44V	probably benign	Het
H2-Ke6	T	C	17: 34,027,217	S161G	probably damaging	Het
Hsp90ab1	T	C	17: 45,570,467	I250V	probably benign	Het
Igkv4-79	A	G	6: 69,043,272	S20P	probably damaging	Het
Il11ra1	A	G	4: 41,765,454	H183R	probably benign	Het
Kcnip3	A	T	2: 127,458,358	F252I	probably damaging	Het
Klk11	T	C	7: 43,778,912	I242T	probably damaging	Het
Klk12	T	C	7: 43,773,348	V233A	possibly damaging	Het
Lama3	G	A	18: 12,491,548	C1450Y	probably damaging	Het
Lmod2	A	T	6: 24,597,783		probably benign	Het
Loxhd1	T	A	18: 77,441,526	V1089E	probably damaging	Het
Lrba	C	T	3: 86,350,286	P1286S	probably benign	Het
Lrrc41	T	C	4: 116,096,529	V804A	possibly damaging	Het
Lrrc8a	T	A	2: 30,255,647	S158T	possibly damaging	Het
Mcm3	A	T	1: 20,810,096	M504K	possibly damaging	Het
Med24	A	T	11: 98,705,024		probably null	Het
Mrgprx1	T	C	7: 48,021,637	S121G	probably damaging	Het
Mvb12a	G	A	8: 71,545,252	M103I	probably benign	Het
Olfr726	A	G	14: 50,084,228	V151A	probably damaging	Het
Olfr730	T	C	14: 50,186,483	I245V	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pacsin3	T	A	2: 91,262,835	M224K	probably damaging	Het
Pam	T	A	1: 97,837,992	I771F	probably damaging	Het
Pamr1	C	T	2: 102,614,931	R270C	probably damaging	Het
Pcdhgb8	G	T	18: 37,762,089	A71S	probably benign	Het
Poc1b	C	T	10: 99,192,804	A336V	probably benign	Het
Prss39	G	T	1: 34,498,616	V54F	possibly damaging	Het
Ptar1	A	G	19: 23,717,924	T252A	probably benign	Het
Ptprz1	A	G	6: 22,999,633	D574G	probably benign	Het
Rnf40	G	A	7: 127,596,406	D635N	probably benign	Het
Scn1a	T	A	2: 66,327,742	Q429L	probably damaging	Het
Sf1	G	T	19: 6,374,097	G386C	probably damaging	Het
Shank2	A	T	7: 144,409,894	Y623F	probably damaging	Het
Slc9a5	G	T	8: 105,364,684	A699S	probably benign	Het
Sox9	A	T	11: 112,784,000	Q208L	probably benign	Het
Synpo2l	A	T	14: 20,660,634	D865E	probably damaging	Het
Szt2	A	G	4: 118,388,325	S1097P	probably benign	Het
Ubr3	T	C	2: 70,000,481	I158T	possibly damaging	Het
Ush2a	T	C	1: 188,356,792	Y315H	probably damaging	Het
Vmn1r85	T	C	7: 13,084,644	D191G	probably damaging	Het
Zfp358	A	G	8: 3,495,613	D92G	probably benign	Het
Zfp735	G	A	11: 73,710,608	G126D	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
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
R8073:Tmc1	UTSW	19	20868361	missense	probably benign	0.08
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'- TCGAGTAGTTTAGCGCCCAC -3'
(R):5'- TTCCTTGGTTAACAACACGTAGTC -3'

Sequencing Primer
(F):5'- CTCACGTAGTCAGCAAGGAGTTTG -3'
(R):5'- ACACGTAGTCTGAGTATTAGATGTG -3'

Posted On

2018-09-12