Mutagenetix > Incidental Mutations

Incidental Mutation 'R5821:Tmc8'

449946

Institutional Source

Beutler Lab

Gene Symbol

Tmc8

Ensembl Gene

ENSMUSG00000050106

Gene Name

transmembrane channel-like gene family 8

Synonyms

Ever2, EVIN2

MMRRC Submission

043401-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R5821 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117782076-117793110 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 117792629 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 670 (S670*)

Ref Sequence

ENSEMBL: ENSMUSP00000113628 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000050874
AA Change: S669*

SMART Domains

Protein: ENSMUSP00000051878
Gene: ENSMUSG00000050106
AA Change: S669*

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: S670*

SMART Domains

Protein: ENSMUSP00000101941
Gene: ENSMUSG00000050106
AA Change: S670*

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: S669*

SMART Domains

Protein: ENSMUSP00000113570
Gene: ENSMUSG00000050106
AA Change: S669*

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: S670*

SMART Domains

Protein: ENSMUSP00000113628
Gene: ENSMUSG00000050106
AA Change: S670*

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

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

100% (55/55)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	A	T	2: 30,796,446	V278D	possibly damaging	Het
Acacb	A	G	5: 114,184,106	D227G	possibly damaging	Het
Akap9	A	G	5: 4,046,064	E2313G	probably benign	Het
Cchcr1	A	T	17: 35,528,848	E564D	probably damaging	Het
Cers2	G	A	3: 95,321,697		probably benign	Het
Cfap161	A	G	7: 83,775,980	I301T	probably benign	Het
Ciita	A	T	16: 10,511,805	E648V	possibly damaging	Het
Cir1	C	T	2: 73,312,460	C10Y	probably damaging	Het
Clasp1	T	A	1: 118,590,484	F1087I	probably damaging	Het
Cped1	C	A	6: 22,138,682	F415L	probably benign	Het
Dnah7b	A	G	1: 46,142,132	T1060A	possibly damaging	Het
Epha5	G	T	5: 84,084,728	P809H	probably damaging	Het
Fuca1	T	A	4: 135,922,962		probably null	Het
Gm20388	A	T	8: 122,900,633	*98R	probably null	Het
Gm26796	G	A	12: 80,758,790	R237C	unknown	Het
Idua	A	G	5: 108,679,734	Y138C	probably benign	Het
Ighd	A	T	12: 113,409,633	L240H	probably benign	Het
Ing2	C	G	8: 47,668,826	C229S	probably benign	Het
Kat8	G	A	7: 127,924,816	E343K	probably damaging	Het
Kctd8	A	T	5: 69,110,485	N427K	probably benign	Het
Kif16b	T	C	2: 142,702,666	E1147G	probably damaging	Het
Kif18a	G	A	2: 109,289,845		probably benign	Het
Krt82	T	A	15: 101,548,385	R187*	probably null	Het
Lrrk2	T	C	15: 91,709,390		probably null	Het
M1ap	T	C	6: 82,968,102	Y126H	probably benign	Het
Mmel1	A	G	4: 154,885,587	N226D	possibly damaging	Het
Mtmr11	A	G	3: 96,167,869	D353G	possibly damaging	Het
Nfkbia	A	T	12: 55,491,220	H149Q	probably damaging	Het
Nr5a1	A	T	2: 38,708,499	F95L	probably damaging	Het
Nutm2	A	G	13: 50,469,855	Y196C	probably benign	Het
Oxtr	A	G	6: 112,489,496	I101T	probably damaging	Het
Pcsk2	T	A	2: 143,749,115		probably null	Het
Pde5a	T	C	3: 122,817,955	I514T	probably benign	Het
Pign	A	G	1: 105,589,063	W585R	possibly damaging	Het
Pomgnt1	A	G	4: 116,155,736	S407G	probably benign	Het
Ppfia3	G	A	7: 45,353,616	T372I	probably damaging	Het
Prrc2b	A	T	2: 32,212,132	E739V	probably damaging	Het
Scn7a	T	C	2: 66,743,703	E192G	probably damaging	Het
Slmap	T	C	14: 26,462,280	D316G	probably damaging	Het
Smim8	GGTTTAATGAAGAG	GG	4: 34,771,259		probably benign	Het
Smim8	TTTAATGAAGAGCT	TT	4: 34,771,261		probably benign	Het
Tgm2	T	A	2: 158,143,054	Y44F	possibly damaging	Het
Tmem145	A	G	7: 25,315,521	D523G	probably benign	Het
Trove2	A	G	1: 143,766,765	V209A	probably benign	Het
Vmn2r115	G	A	17: 23,347,963	G483E	probably damaging	Het

Other mutations in Tmc8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00913:Tmc8	APN	11	117786504	missense	probably damaging	1.00
IGL01098:Tmc8	APN	11	117792563	missense	possibly damaging	0.47
IGL01403:Tmc8	APN	11	117791074	missense	possibly damaging	0.94
IGL01526:Tmc8	APN	11	117792084	splice site	probably benign
IGL02045:Tmc8	APN	11	117786520	missense	probably damaging	1.00
IGL02138:Tmc8	APN	11	117791255	missense	probably benign	0.01
IGL02581:Tmc8	APN	11	117783888	missense	probably benign	0.01
IGL02685:Tmc8	APN	11	117792574	missense	probably damaging	0.96
R0241:Tmc8	UTSW	11	117786381	unclassified	probably benign
R0485:Tmc8	UTSW	11	117792078	splice site	probably benign
R1168:Tmc8	UTSW	11	117792563	missense	possibly damaging	0.47
R1701:Tmc8	UTSW	11	117791362	splice site	probably null
R2425:Tmc8	UTSW	11	117792569	missense	probably damaging	0.96
R2509:Tmc8	UTSW	11	117792685	missense	possibly damaging	0.66
R4747:Tmc8	UTSW	11	117792724	missense	probably benign	0.27
R4783:Tmc8	UTSW	11	117791605	splice site	probably null
R5923:Tmc8	UTSW	11	117783812	missense	probably damaging	1.00
R6381:Tmc8	UTSW	11	117791600	missense	probably null	0.73
R6712:Tmc8	UTSW	11	117784813	missense	probably benign	0.43
R7351:Tmc8	UTSW	11	117783828	missense	probably damaging	1.00
R7493:Tmc8	UTSW	11	117784932	missense	probably benign	0.00
R7818:Tmc8	UTSW	11	117792127	missense	probably damaging	1.00
R8190:Tmc8	UTSW	11	117791360	critical splice donor site	probably null
RF021:Tmc8	UTSW	11	117783234	missense	probably benign	0.00
Z1176:Tmc8	UTSW	11	117786409	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGCATTGAGAACAGATCCTGG -3'
(R):5'- CAGAGATTGTGGGCCTAAGG -3'

Sequencing Primer
(F):5'- ACAGATCCTGGCAGAGGC -3'
(R):5'- GCACTGGAGGAAGCTGC -3'

Posted On

2016-12-20