Mutagenetix > Incidental Mutation

Incidental Mutation 'R1701:Tmc8'

189747

Institutional Source

Beutler Lab

Gene Symbol

Tmc8

Ensembl Gene

ENSMUSG00000050106

Gene Name

transmembrane channel-like gene family 8

Synonyms

Ever2, EVIN2

MMRRC Submission

039734-MU

Accession Numbers

Essential gene?

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

Stock #

R1701 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

117672902-117683936 bp(+) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

A to G at 117682188 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000051878
Gene: ENSMUSG00000050106

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

SMART Domains

Protein: ENSMUSP00000101941
Gene: ENSMUSG00000050106

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

SMART Domains

Protein: ENSMUSP00000113570
Gene: ENSMUSG00000050106

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

SMART Domains

Protein: ENSMUSP00000113628
Gene: ENSMUSG00000050106

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	A	G	4: 144,190,142 (GRCm39)	L53P	probably damaging	Het
Acadsb	T	A	7: 131,026,213 (GRCm39)	F19I	probably benign	Het
Aldh3a2	C	T	11: 61,147,598 (GRCm39)	G303S	probably damaging	Het
Anks1b	T	C	10: 89,885,816 (GRCm39)	Y171H	probably damaging	Het
Anxa7	A	T	14: 20,510,229 (GRCm39)	I385N	probably damaging	Het
Astn1	A	T	1: 158,331,877 (GRCm39)	T324S	possibly damaging	Het
Ccdc88a	T	C	11: 29,427,427 (GRCm39)	V235A	possibly damaging	Het
Crhr2	T	C	6: 55,076,255 (GRCm39)	K258R	probably damaging	Het
Ctnnd1	T	C	2: 84,439,335 (GRCm39)	E786G	probably damaging	Het
Ctnnd2	G	A	15: 30,922,127 (GRCm39)	D918N	probably damaging	Het
Dnah9	A	G	11: 65,802,750 (GRCm39)	S200P	probably damaging	Het
Dot1l	T	C	10: 80,626,576 (GRCm39)	S1266P	possibly damaging	Het
Efemp1	A	G	11: 28,871,750 (GRCm39)	T422A	possibly damaging	Het
Fam135b	T	C	15: 71,331,578 (GRCm39)	H1137R	probably damaging	Het
Flot2	C	T	11: 77,940,373 (GRCm39)	S40L	possibly damaging	Het
Fras1	G	A	5: 96,748,643 (GRCm39)	S706N	probably benign	Het
Gbf1	T	C	19: 46,250,114 (GRCm39)	L357P	probably damaging	Het
Gpatch2l	A	G	12: 86,335,726 (GRCm39)	S476G	probably benign	Het
Hbb-bh2	T	C	7: 103,489,450 (GRCm39)	T34A	probably benign	Het
Ints8	A	G	4: 11,231,656 (GRCm39)	L443P	probably damaging	Het
Intu	T	A	3: 40,618,694 (GRCm39)	D233E	probably damaging	Het
Itprid2	A	G	2: 79,466,394 (GRCm39)	K75E	probably damaging	Het
Kctd1	T	A	18: 15,102,617 (GRCm39)	I259L	possibly damaging	Het
Lama5	A	G	2: 179,863,162 (GRCm39)	C108R	probably damaging	Het
Lgals3bp	T	C	11: 118,284,781 (GRCm39)	Y266C	probably damaging	Het
Lrig2	T	C	3: 104,401,993 (GRCm39)	I111V	probably benign	Het
Mtcl2	T	C	2: 156,872,539 (GRCm39)	N936S	probably damaging	Het
Myh8	G	T	11: 67,170,964 (GRCm39)	C125F	probably damaging	Het
Or2d3c	C	A	7: 106,526,129 (GRCm39)	C179F	probably damaging	Het
Or2h2	C	T	17: 37,396,623 (GRCm39)	V145M	probably benign	Het
Or51a10	T	C	7: 103,699,402 (GRCm39)	E53G	possibly damaging	Het
Or5ac21	T	C	16: 59,123,651 (GRCm39)	I46T	probably benign	Het
Or5p76	T	G	7: 108,122,731 (GRCm39)	Q142P	probably benign	Het
Or5w16	T	A	2: 87,576,894 (GRCm39)	M118K	probably damaging	Het
Or6c202	T	C	10: 128,995,974 (GRCm39)	Q293R	probably damaging	Het
Or8g4	A	T	9: 39,662,365 (GRCm39)	I228F	probably damaging	Het
Pate8	A	G	9: 36,493,114 (GRCm39)		probably benign	Het
Phc2	C	T	4: 128,645,400 (GRCm39)	P836S	probably damaging	Het
Pla2g7	T	C	17: 43,911,415 (GRCm39)	F189S	probably damaging	Het
Ptprk	A	G	10: 28,342,054 (GRCm39)	D487G	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rad54l2	A	G	9: 106,577,692 (GRCm39)		probably null	Het
Robo4	G	T	9: 37,314,739 (GRCm39)	V198L	probably benign	Het
Selenbp1	C	A	3: 94,844,701 (GRCm39)	H119Q	probably damaging	Het
Slc25a13	T	C	6: 6,152,525 (GRCm39)		probably null	Het
Slc35f5	A	G	1: 125,498,330 (GRCm39)	E176G	possibly damaging	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Tenm4	G	A	7: 96,552,096 (GRCm39)	V2512M	probably damaging	Het
Trim30d	C	T	7: 104,133,389 (GRCm39)	W21*	probably null	Het
Ube3c	G	A	5: 29,806,200 (GRCm39)	V281I	probably benign	Het
Usp17ld	T	C	7: 102,899,783 (GRCm39)	K383R	probably benign	Het
Vmn1r172	A	T	7: 23,359,529 (GRCm39)	Y138F	probably damaging	Het
Vmn1r180	T	C	7: 23,652,395 (GRCm39)	V186A	possibly damaging	Het
Vmn2r25	T	A	6: 123,828,754 (GRCm39)		probably null	Het
Vmn2r61	T	C	7: 41,949,935 (GRCm39)	F785S	probably damaging	Het
Zfp141	T	A	7: 42,125,470 (GRCm39)	Y334F	probably benign	Het
Zfp609	T	C	9: 65,638,282 (GRCm39)	I317V	probably benign	Het
Zfp879	A	G	11: 50,724,060 (GRCm39)	I259T	possibly damaging	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
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
R6381:Tmc8	UTSW	11	117,682,426 (GRCm39)	missense	probably null	0.73
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'- TGCTGCCACTACTCAACAGTGTC -3'
(R):5'- AGCCAAACCCTTGGAGTTTCTCCC -3'

Sequencing Primer
(F):5'- TCACTCCGTGGTCTACAAAC -3'
(R):5'- TGTATAGTCACCTGAGCAGAATG -3'

Posted On

2014-05-14