Mutagenetix > Incidental Mutation

Incidental Mutation 'RF021:Tmc8'

603896

Institutional Source

Beutler Lab

Gene Symbol

Tmc8

Ensembl Gene

ENSMUSG00000050106

Gene Name

transmembrane channel-like gene family 8

Synonyms

Ever2, EVIN2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

RF021 (G1)

Quality Score

191.009

Status

Validated

Chromosome

Chromosomal Location

117782076-117793110 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 117783234 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 42 (M42T)

Ref Sequence

ENSEMBL: ENSMUSP00000101941 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026659] [ENSMUST00000050874] [ENSMUST00000103025] [ENSMUST00000106334] [ENSMUST00000117781] [ENSMUST00000119455] [ENSMUST00000127080] [ENSMUST00000127227] [ENSMUST00000131606] [ENSMUST00000136729] [ENSMUST00000143406] [ENSMUST00000152304]

AlphaFold

Q7TN58

Predicted Effect

probably benign
Transcript: ENSMUST00000026659

SMART Domains

Protein: ENSMUSP00000026659
Gene: ENSMUSG00000025572

Domain	Start	End	E-Value	Type
low complexity region	47	58	N/A	INTRINSIC
low complexity region	106	116	N/A	INTRINSIC
transmembrane domain	204	226	N/A	INTRINSIC
transmembrane domain	254	276	N/A	INTRINSIC
transmembrane domain	338	360	N/A	INTRINSIC
transmembrane domain	430	452	N/A	INTRINSIC
transmembrane domain	467	489	N/A	INTRINSIC
Pfam:TMC	539	645	1.5e-40	PFAM
transmembrane domain	650	672	N/A	INTRINSIC
transmembrane domain	717	739	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000050874
AA Change: M42T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000051878
Gene: ENSMUSG00000050106
AA Change: M42T

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 benign
Transcript: ENSMUST00000103025

SMART Domains

Protein: ENSMUSP00000099314
Gene: ENSMUSG00000025572

Domain	Start	End	E-Value	Type
low complexity region	47	58	N/A	INTRINSIC
low complexity region	106	116	N/A	INTRINSIC
transmembrane domain	204	226	N/A	INTRINSIC
transmembrane domain	254	276	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106334
AA Change: M42T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000101941
Gene: ENSMUSG00000050106
AA Change: M42T

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 benign
Transcript: ENSMUST00000117781
AA Change: M42T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000113570
Gene: ENSMUSG00000050106
AA Change: M42T

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 benign
Transcript: ENSMUST00000119455
AA Change: M42T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000113628
Gene: ENSMUSG00000050106
AA Change: M42T

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

probably benign
Transcript: ENSMUST00000127080
AA Change: M42T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000115270
Gene: ENSMUSG00000050106
AA Change: M42T

Domain	Start	End	E-Value	Type
transmembrane domain	120	142	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127227

Predicted Effect

probably benign
Transcript: ENSMUST00000131606

SMART Domains

Protein: ENSMUSP00000123264
Gene: ENSMUSG00000025572

Domain	Start	End	E-Value	Type
low complexity region	58	68	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136729

SMART Domains

Protein: ENSMUSP00000118068
Gene: ENSMUSG00000025572

Domain	Start	End	E-Value	Type
low complexity region	47	58	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143406

SMART Domains

Protein: ENSMUSP00000117566
Gene: ENSMUSG00000025572

Domain	Start	End	E-Value	Type
low complexity region	47	58	N/A	INTRINSIC
low complexity region	106	116	N/A	INTRINSIC
low complexity region	210	226	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152304

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.3%

Validation Efficiency

91% (50/55)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	TTATTATTATTAT	TTATTATTATTATTAATATTATTATTAT	3: 37,050,748		probably benign	Het
A030005L19Rik	GTGGTGGCTG	GTGGTGGCTGTGGTGGCTG	1: 82,913,569		probably benign	Het
AI837181	CGG	CGGTGG	19: 5,425,234		probably benign	Het
Ankrd44	T	C	1: 54,778,312	H79R	probably damaging	Het
Atg9a	T	A	1: 75,182,629	E826V	probably damaging	Het
Atrnl1	T	C	19: 57,642,473	V224A	probably benign	Het
Cpn2	G	A	16: 30,259,338	A515V	probably benign	Het
Cyp2a12	T	C	7: 27,035,360	F402S	possibly damaging	Het
Defb22	TGCGGCA	TGCGGCAGAGCTGGGCGTTGCGGCA	2: 152,485,832		probably benign	Het
Diexf	A	G	1: 193,120,666	F248L	probably benign	Het
Dnah10	G	T	5: 124,777,907	V2016F	probably damaging	Het
Dock10	T	C	1: 80,564,573		probably null	Het
Efhd2	GCC	GCCGCCCCC	4: 141,874,773		probably benign	Het
Fam131a	A	C	16: 20,694,940		probably benign	Het
Gm6614	A	T	6: 142,008,714	V31E	probably damaging	Het
Gm7247	AGACCAGACC	A	14: 51,364,324		probably benign	Het
Gna13	T	C	11: 109,392,392	V186A	probably benign	Het
Grk3	T	A	5: 112,941,688	I333L	probably benign	Het
Gstp1	A	T	19: 4,035,507	V200E	probably benign	Het
Gtf2h1	T	G	7: 46,803,865	V74G	possibly damaging	Het
Kcnh8	G	A	17: 52,978,239	R1079H	probably benign	Het
Kiz	A	G	2: 146,870,830	D138G	possibly damaging	Het
Kmt2b	TTCTCCT	TTCTCCTTCTCCT	7: 30,586,357		probably benign	Het
Lats1	A	G	10: 7,710,608	T912A	probably damaging	Het
Lce1m	GCTGCCACC	GCTGCCACCACTTCTGCCACC	3: 93,018,269		probably benign	Het
Lce1m	TGCC	TGCCGCCGCTGCCGCC	3: 93,018,295		probably benign	Het
Lrrc2	TTGATTCGGTTCACC	T	9: 110,981,676		probably null	Het
Med12l	T	C	3: 59,073,290	F359S	probably benign	Het
Mut	A	G	17: 40,951,758	I444V	probably benign	Het
Ncoa2	CTTAAAA	C	1: 13,149,109		probably benign	Het
Ngp	A	G	9: 110,421,756	T114A	possibly damaging	Het
Nlrc5	A	T	8: 94,476,888	T539S	probably benign	Het
Nxf1	A	G	19: 8,772,309	D190G	probably damaging	Het
Olfr229	A	T	9: 39,910,045	M81L	probably benign	Het
Olfr769	A	T	10: 129,112,342	F28I	probably damaging	Het
Pramef25	C	G	4: 143,948,908	Q449H	probably damaging	Het
Prdm15	G	A	16: 97,808,756	H563Y	probably damaging	Het
Rbm12	CAGG	CAGGGATTGCGGGACCTGGTATTGCGGGACCAGG	2: 156,096,106		probably benign	Het
Sema3g	C	T	14: 31,227,841	H660Y	probably damaging	Het
Smarca2	AGCAGCAGCAGCAGCAGCAGCA	AGCAGCAGCAGCAGCAGCAGCAGCAGCA	19: 26,630,997		probably benign	Het
Stpg2	A	T	3: 139,212,250		probably null	Het
Taar7f	C	T	10: 24,050,423	T305M	possibly damaging	Het
Tbcb	C	T	7: 30,224,346	V208M	probably damaging	Het
Tenm2	T	A	11: 36,024,203	Q2169L	possibly damaging	Het
Tln1	A	G	4: 43,555,890	V108A	probably damaging	Het
Trdc	T	C	14: 54,144,203	V115A		Het
Ttbk2	A	G	2: 120,748,634	V669A	probably benign	Het
Tusc1	GCC	GCCACCACC	4: 93,335,316		probably benign	Het
Vps16	A	G	2: 130,438,209	H118R	probably benign	Het
Wdpcp	T	A	11: 21,711,587	C286*	probably null	Het
Zbed4	C	A	15: 88,781,236	Y502*	probably null	Het
Zdbf2	T	A	1: 63,302,652	N63K	possibly 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
R5821:Tmc8	UTSW	11	117792629	nonsense	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
R8699:Tmc8	UTSW	11	117783535	missense	possibly damaging	0.71
R8780:Tmc8	UTSW	11	117790732	frame shift	probably null
R9768:Tmc8	UTSW	11	117785203	missense	probably damaging	1.00
Z1176:Tmc8	UTSW	11	117786409	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGCTTCTTTTCACTGTGGACAC -3'
(R):5'- AAGGTGGTCTTCACTCCCTC -3'

Sequencing Primer
(F):5'- TTCACTGTGGACACTGGCAG -3'
(R):5'- GTCTTCACTCCCTCGGGCTC -3'

Posted On

2019-12-04