Mutagenetix > Incidental Mutation

Incidental Mutation 'R8024:Tmc1'

617619

Institutional Source

Beutler Lab

Gene Symbol

Tmc1

Ensembl Gene

ENSMUSG00000024749

Gene Name

transmembrane channel-like gene family 1

Synonyms

Beethoven, Bth, 4933416G09Rik

MMRRC Submission

067463-MU

Accession Numbers

Essential gene?

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

Stock #

R8024 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20760822-20931566 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20878181 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 105 (W105R)

Ref Sequence

ENSEMBL: ENSMUSP00000040859 (fasta)

Gene Model

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

AlphaFold

Q8R4P5

Predicted Effect

probably damaging
Transcript: ENSMUST00000039500
AA Change: W105R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000040859
Gene: ENSMUSG00000024749
AA Change: W105R

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (74/74)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,760,713 (GRCm39)	N1257Y	probably benign	Het
2310057J18Rik	A	T	10: 28,858,591 (GRCm39)	Y133*	probably null	Het
2310057J18Rik	A	C	10: 28,862,213 (GRCm39)	S26A	possibly damaging	Het
9930012K11Rik	G	T	14: 70,394,116 (GRCm39)	P220T	probably damaging	Het
Adam1b	A	C	5: 121,638,986 (GRCm39)	S686R	probably benign	Het
Adam8	T	C	7: 139,567,489 (GRCm39)	D418G	probably damaging	Het
Adcy8	A	G	15: 64,792,095 (GRCm39)	L287P	probably damaging	Het
Adhfe1	T	A	1: 9,634,080 (GRCm39)	M373K	probably benign	Het
Alpk2	T	C	18: 65,438,106 (GRCm39)	S1096G	probably benign	Het
Ankmy1	A	G	1: 92,812,716 (GRCm39)	V531A	probably benign	Het
Ano3	C	T	2: 110,498,128 (GRCm39)	E738K	probably damaging	Het
Ano4	T	A	10: 88,807,194 (GRCm39)	I796F	probably damaging	Het
Apeh	T	C	9: 107,969,790 (GRCm39)	E190G	probably benign	Het
Atpsckmt	T	C	15: 31,608,317 (GRCm39)	Y123H	probably damaging	Het
Cadm3	A	G	1: 173,165,622 (GRCm39)	L346P	probably damaging	Het
Ccdc9b	A	G	2: 118,591,005 (GRCm39)		probably null	Het
Clec2e	G	A	6: 129,071,388 (GRCm39)	H150Y	possibly damaging	Het
Cnga4	A	T	7: 105,056,042 (GRCm39)	N318Y	probably damaging	Het
Cnr2	T	A	4: 135,644,196 (GRCm39)	F91L	probably damaging	Het
Diaph3	T	A	14: 86,893,835 (GRCm39)	E1147V	probably damaging	Het
Elmo2	T	C	2: 165,133,775 (GRCm39)	T738A	unknown	Het
Exoc4	T	A	6: 33,324,866 (GRCm39)	W387R	probably damaging	Het
Focad	T	C	4: 88,315,237 (GRCm39)	V1379A	unknown	Het
Frmd4a	T	C	2: 4,608,513 (GRCm39)	S794P	probably damaging	Het
Ftl1-ps1	A	G	13: 74,555,170 (GRCm39)	T150A	probably benign	Het
Gm43517	A	T	12: 49,436,409 (GRCm39)		probably benign	Het
Gm5773	C	T	3: 93,680,475 (GRCm39)	A49V	probably benign	Het
Helz	T	A	11: 107,577,247 (GRCm39)	L1867Q	unknown	Het
Il22ra1	A	G	4: 135,461,589 (GRCm39)	H118R	probably benign	Het
Inf2	C	T	12: 112,575,336 (GRCm39)	P856S	unknown	Het
Ints5	T	A	19: 8,873,504 (GRCm39)	L488I	probably damaging	Het
Iqca1l	A	G	5: 24,755,634 (GRCm39)	M296T	possibly damaging	Het
Kifc1	G	A	17: 34,102,177 (GRCm39)	R479C	probably damaging	Het
Lrba	T	A	3: 86,202,708 (GRCm39)	C289*	probably null	Het
Mael	A	G	1: 166,054,196 (GRCm39)	L196S	probably damaging	Het
Med23	T	A	10: 24,755,581 (GRCm39)	S229R	possibly damaging	Het
Mroh9	T	C	1: 162,866,802 (GRCm39)	N645D	probably benign	Het
Myom3	G	A	4: 135,529,059 (GRCm39)	V1132I	probably benign	Het
Naalad2	T	G	9: 18,308,769 (GRCm39)		probably benign	Het
Ndufa13	A	T	8: 70,347,187 (GRCm39)	L71H	probably damaging	Het
Nepro	A	T	16: 44,551,778 (GRCm39)	H212L	probably benign	Het
Nmd3	T	A	3: 69,637,298 (GRCm39)		probably benign	Het
Nox4	T	A	7: 86,954,118 (GRCm39)	L141Q	probably damaging	Het
Or4a81	T	C	2: 89,619,390 (GRCm39)	E102G	probably benign	Het
Or5p53	T	C	7: 107,533,645 (GRCm39)	V306A	probably benign	Het
Or5p58	T	A	7: 107,694,496 (GRCm39)	T94S	probably benign	Het
Or6c215	T	G	10: 129,637,812 (GRCm39)	E194A	probably damaging	Het
Or8s2	T	A	15: 98,276,878 (GRCm39)	M38L	probably benign	Het
Pfpl	A	G	19: 12,407,570 (GRCm39)	D607G	possibly damaging	Het
Pkd1l2	A	T	8: 117,802,921 (GRCm39)	F233L	possibly damaging	Het
Prl6a1	A	G	13: 27,502,678 (GRCm39)		probably benign	Het
Ptprz1	A	T	6: 23,042,750 (GRCm39)	E2058V	probably damaging	Het
Rag1	A	T	2: 101,472,852 (GRCm39)	N763K	probably damaging	Het
Rhbg	A	C	3: 88,155,760 (GRCm39)	D63E	probably damaging	Het
Rrm1	T	A	7: 102,106,472 (GRCm39)	F330L	probably benign	Het
Scaf8	A	T	17: 3,209,568 (GRCm39)	Q97L	unknown	Het
Sdr9c7	G	A	10: 127,734,751 (GRCm39)	V80I	probably benign	Het
Slc18a1	A	G	8: 69,527,799 (GRCm39)	V4A	probably benign	Het
Slco3a1	T	A	7: 74,204,218 (GRCm39)	I41F	probably benign	Het
Slirp	T	C	12: 87,494,370 (GRCm39)	V45A	probably damaging	Het
Spata31	A	T	13: 65,070,618 (GRCm39)	Q922L	probably benign	Het
Spg11	A	G	2: 121,927,802 (GRCm39)	S661P	possibly damaging	Het
Stab2	G	T	10: 86,681,916 (GRCm39)	T2495K	probably benign	Het
Supt16	A	G	14: 52,408,332 (GRCm39)	I871T	probably damaging	Het
Sval2	A	G	6: 41,837,298 (GRCm39)	Q9R	probably damaging	Het
Syngap1	A	T	17: 27,160,426 (GRCm39)	M1L	probably benign	Het
Tfpi	A	T	2: 84,284,266 (GRCm39)	M62K	possibly damaging	Het
Tm4sf1	A	T	3: 57,195,186 (GRCm39)	Y200*	probably null	Het
Tmtc2	T	C	10: 105,025,987 (GRCm39)	E827G	probably benign	Het
Tollip	T	C	7: 141,446,563 (GRCm39)	I33V	probably benign	Het
Unc80	T	A	1: 66,645,803 (GRCm39)	V1493D	possibly damaging	Het
Vmn2r6	G	A	3: 64,467,245 (GRCm39)	R85W	probably benign	Het
Vwa5a	C	A	9: 38,647,316 (GRCm39)	S565*	probably null	Het
Xbp1	T	A	11: 5,471,910 (GRCm39)	V12D	probably benign	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
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
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'- AATCCATGTGCCGATTTTGCTC -3'
(R):5'- ACTTCTCATTGGCTTTGGGC -3'

Sequencing Primer
(F):5'- TGCTCAAAATTGTTTTCAGCTTG -3'
(R):5'- GGTTAAAAGCACTGCTCG -3'

Posted On

2020-01-23