Mutagenetix > Incidental Mutation

Incidental Mutation 'R6381:Tmc8'

515327

Institutional Source

Beutler Lab

Gene Symbol

Tmc8

Ensembl Gene

ENSMUSG00000050106

Gene Name

transmembrane channel-like gene family 8

Synonyms

Ever2, EVIN2

MMRRC Submission

044530-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R6381 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

117672902-117683936 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 117682426 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 613 (S613C)

Ref Sequence

ENSEMBL: ENSMUSP00000113628 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050874] [ENSMUST00000106334] [ENSMUST00000117781] [ENSMUST00000119455]

AlphaFold

Q7TN58

Predicted Effect

probably null
Transcript: ENSMUST00000050874
AA Change: S612C

PolyPhen 2 Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000051878
Gene: ENSMUSG00000050106
AA Change: S612C

Domain	Start	End	E-Value	Type
transmembrane domain	120	142	N/A	INTRINSIC
transmembrane domain	203	225	N/A	INTRINSIC
transmembrane domain	301	323	N/A	INTRINSIC
transmembrane domain	376	398	N/A	INTRINSIC
Pfam:TMC	422	532	3.1e-42	PFAM
transmembrane domain	536	558	N/A	INTRINSIC
transmembrane domain	597	619	N/A	INTRINSIC
low complexity region	650	666	N/A	INTRINSIC
low complexity region	673	686	N/A	INTRINSIC
low complexity region	689	712	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000106334
AA Change: S613C

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101941
Gene: ENSMUSG00000050106
AA Change: S613C

Domain	Start	End	E-Value	Type
transmembrane domain	120	142	N/A	INTRINSIC
transmembrane domain	204	226	N/A	INTRINSIC
transmembrane domain	302	324	N/A	INTRINSIC
transmembrane domain	377	399	N/A	INTRINSIC
Pfam:TMC	423	533	6e-41	PFAM
transmembrane domain	537	559	N/A	INTRINSIC
transmembrane domain	598	620	N/A	INTRINSIC
low complexity region	651	667	N/A	INTRINSIC
low complexity region	674	687	N/A	INTRINSIC
low complexity region	690	713	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000117781
AA Change: S612C

PolyPhen 2 Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113570
Gene: ENSMUSG00000050106
AA Change: S612C

Domain	Start	End	E-Value	Type
transmembrane domain	120	142	N/A	INTRINSIC
transmembrane domain	203	225	N/A	INTRINSIC
transmembrane domain	301	323	N/A	INTRINSIC
transmembrane domain	376	398	N/A	INTRINSIC
Pfam:TMC	422	532	1.2e-42	PFAM
transmembrane domain	536	558	N/A	INTRINSIC
transmembrane domain	597	619	N/A	INTRINSIC
low complexity region	650	666	N/A	INTRINSIC
low complexity region	673	686	N/A	INTRINSIC
low complexity region	689	712	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000119455
AA Change: S613C

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113628
Gene: ENSMUSG00000050106
AA Change: S613C

Domain	Start	End	E-Value	Type
transmembrane domain	120	142	N/A	INTRINSIC
transmembrane domain	204	226	N/A	INTRINSIC
transmembrane domain	302	324	N/A	INTRINSIC
transmembrane domain	377	399	N/A	INTRINSIC
Pfam:TMC	423	533	2.5e-42	PFAM
transmembrane domain	537	559	N/A	INTRINSIC
transmembrane domain	598	620	N/A	INTRINSIC
low complexity region	651	667	N/A	INTRINSIC
low complexity region	674	687	N/A	INTRINSIC
low complexity region	690	713	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125577

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156458

Meta Mutation Damage Score

0.2621

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

97% (56/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 8 predicted transmembrane domains and 3 leucine zipper motifs. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	A	18: 70,600,788 (GRCm39)	M365L	probably damaging	Het
Aars2	A	G	17: 45,829,471 (GRCm39)	E786G	probably benign	Het
Adamts12	G	T	15: 11,257,080 (GRCm39)	V478F	possibly damaging	Het
Akr1c21	T	A	13: 4,624,183 (GRCm39)	D12E	probably damaging	Het
Aplf	A	T	6: 87,635,959 (GRCm39)	M118K	probably damaging	Het
Apobec1	A	G	6: 122,555,890 (GRCm39)	L189P	probably damaging	Het
BC061237	A	G	14: 44,741,713 (GRCm39)	Q152R	possibly damaging	Het
Bche	A	G	3: 73,609,132 (GRCm39)	I98T	probably benign	Het
Cc2d2a	G	T	5: 43,873,118 (GRCm39)	R983L	possibly damaging	Het
Ccnd3	T	C	17: 47,816,149 (GRCm39)		probably benign	Het
Cd74	G	T	18: 60,944,435 (GRCm39)	C215F	probably damaging	Het
Cep97	C	T	16: 55,742,534 (GRCm39)	A138T	probably damaging	Het
Ces1e	T	A	8: 93,944,206 (GRCm39)	N204I	probably damaging	Het
Dicer1	T	C	12: 104,662,721 (GRCm39)	D1620G	probably benign	Het
Dnah17	A	G	11: 118,020,011 (GRCm39)	V12A	probably benign	Het
Dstyk	T	A	1: 132,384,503 (GRCm39)		probably null	Het
Elapor1	T	C	3: 108,389,130 (GRCm39)	K222E	possibly damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Entr1	A	G	2: 26,275,093 (GRCm39)		probably null	Het
Gm10570	G	T	4: 130,202,021 (GRCm39)		probably benign	Het
Gm7145	C	T	1: 117,913,669 (GRCm39)	Q184*	probably null	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Gtse1	G	A	15: 85,746,349 (GRCm39)	R55H	probably benign	Het
Hdac4	G	T	1: 91,912,247 (GRCm39)	Q381K	possibly damaging	Het
Ifit3b	T	C	19: 34,589,871 (GRCm39)	I349T	probably benign	Het
Inpp5a	A	T	7: 138,980,589 (GRCm39)	D9V	probably benign	Het
Irs1	T	C	1: 82,265,405 (GRCm39)	N937S	possibly damaging	Het
Kcna4	T	C	2: 107,125,317 (GRCm39)	M17T	probably benign	Het
Lipa	T	A	19: 34,502,146 (GRCm39)	M33L	probably benign	Het
Marchf6	G	T	15: 31,467,838 (GRCm39)	Q790K	probably benign	Het
Mccc1	G	A	3: 36,030,876 (GRCm39)	P397S	probably benign	Het
Mrgprb2	T	C	7: 48,202,138 (GRCm39)	I196V	probably benign	Het
Myh15	T	A	16: 48,921,844 (GRCm39)	S463R	probably damaging	Het
Nab2	T	C	10: 127,500,220 (GRCm39)	K291E	probably damaging	Het
Neto2	T	C	8: 86,369,138 (GRCm39)	T294A	probably damaging	Het
Nkx1-1	T	C	5: 33,591,320 (GRCm39)	M1V	probably null	Het
Or2h2	C	T	17: 37,396,977 (GRCm39)	V27I	probably benign	Het
Pla2g4c	C	T	7: 13,077,933 (GRCm39)	T357I	probably benign	Het
Psmd2	A	G	16: 20,474,023 (GRCm39)	E242G	probably benign	Het
Rnase12	A	C	14: 51,294,551 (GRCm39)	Y43D	probably damaging	Het
Rpl18	T	A	7: 45,369,016 (GRCm39)	F58I	probably damaging	Het
Ryr1	T	G	7: 28,774,682 (GRCm39)	M2313L	possibly damaging	Het
Scn4a	G	T	11: 106,211,137 (GRCm39)	Q1627K	probably damaging	Het
Scnn1g	A	G	7: 121,366,722 (GRCm39)	S640G	probably benign	Het
Sdr9c7	T	A	10: 127,739,542 (GRCm39)	M219K	probably benign	Het
Soat1	A	T	1: 156,263,373 (GRCm39)	M392K	probably damaging	Het
Spata18	G	T	5: 73,832,559 (GRCm39)	K337N	probably damaging	Het
Supt16	A	G	14: 52,417,003 (GRCm39)	V325A	probably benign	Het
Syt2	A	G	1: 134,674,588 (GRCm39)	E342G	probably damaging	Het
Tars2	A	T	3: 95,661,799 (GRCm39)	L37*	probably null	Het
Tep1	T	C	14: 51,082,888 (GRCm39)	D1040G	probably damaging	Het
Top3a	C	T	11: 60,634,849 (GRCm39)	C660Y	probably damaging	Het
Tpsg1	C	T	17: 25,591,543 (GRCm39)	R48C	probably damaging	Het
Vmn2r57	T	C	7: 41,078,242 (GRCm39)	N72S	probably benign	Het
Whrn	G	A	4: 63,390,921 (GRCm39)	T269I	probably benign	Het
Zfp759	T	A	13: 67,286,969 (GRCm39)	Y173*	probably null	Het

Other mutations in Tmc8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00913:Tmc8	APN	11	117,677,330 (GRCm39)	missense	probably damaging	1.00
IGL01098:Tmc8	APN	11	117,683,389 (GRCm39)	missense	possibly damaging	0.47
IGL01403:Tmc8	APN	11	117,681,900 (GRCm39)	missense	possibly damaging	0.94
IGL01526:Tmc8	APN	11	117,682,910 (GRCm39)	splice site	probably benign
IGL02045:Tmc8	APN	11	117,677,346 (GRCm39)	missense	probably damaging	1.00
IGL02138:Tmc8	APN	11	117,682,081 (GRCm39)	missense	probably benign	0.01
IGL02581:Tmc8	APN	11	117,674,714 (GRCm39)	missense	probably benign	0.01
IGL02685:Tmc8	APN	11	117,683,400 (GRCm39)	missense	probably damaging	0.96
R0241:Tmc8	UTSW	11	117,677,207 (GRCm39)	unclassified	probably benign
R0485:Tmc8	UTSW	11	117,682,904 (GRCm39)	splice site	probably benign
R1168:Tmc8	UTSW	11	117,683,389 (GRCm39)	missense	possibly damaging	0.47
R1701:Tmc8	UTSW	11	117,682,188 (GRCm39)	splice site	probably null
R2425:Tmc8	UTSW	11	117,683,395 (GRCm39)	missense	probably damaging	0.96
R2509:Tmc8	UTSW	11	117,683,511 (GRCm39)	missense	possibly damaging	0.66
R4747:Tmc8	UTSW	11	117,683,550 (GRCm39)	missense	probably benign	0.27
R4783:Tmc8	UTSW	11	117,682,431 (GRCm39)	splice site	probably null
R5821:Tmc8	UTSW	11	117,683,455 (GRCm39)	nonsense	probably null
R5923:Tmc8	UTSW	11	117,674,638 (GRCm39)	missense	probably damaging	1.00
R6712:Tmc8	UTSW	11	117,675,639 (GRCm39)	missense	probably benign	0.43
R7351:Tmc8	UTSW	11	117,674,654 (GRCm39)	missense	probably damaging	1.00
R7493:Tmc8	UTSW	11	117,675,758 (GRCm39)	missense	probably benign	0.00
R7818:Tmc8	UTSW	11	117,682,953 (GRCm39)	missense	probably damaging	1.00
R8190:Tmc8	UTSW	11	117,682,186 (GRCm39)	critical splice donor site	probably null
R8699:Tmc8	UTSW	11	117,674,361 (GRCm39)	missense	possibly damaging	0.71
R8780:Tmc8	UTSW	11	117,681,558 (GRCm39)	frame shift	probably null
R9768:Tmc8	UTSW	11	117,676,029 (GRCm39)	missense	probably damaging	1.00
RF021:Tmc8	UTSW	11	117,674,060 (GRCm39)	missense	probably benign	0.00
Z1176:Tmc8	UTSW	11	117,677,235 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTACGTGATCAGCAGGTGAC -3'
(R):5'- AAGGCAAGTTGGTTCACCCG -3'

Sequencing Primer
(F):5'- CCCAGATTCTGACAAGCCTG -3'
(R):5'- TCACCCGGGGCTGTGTTG -3'

Posted On

2018-05-04