Mutagenetix > Incidental Mutation

Incidental Mutation 'R8190:Tmc8'

635099

Institutional Source

Beutler Lab

Gene Symbol

Tmc8

Ensembl Gene

ENSMUSG00000050106

Gene Name

transmembrane channel-like gene family 8

Synonyms

Ever2, EVIN2

MMRRC Submission

067613-MU

Accession Numbers

Essential gene?

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

Stock #

R8190 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

117672902-117683936 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to G at 117682186 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101941 (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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	T	C	14: 29,706,030 (GRCm39)	V113A	possibly damaging	Het
Adcy7	A	G	8: 89,037,666 (GRCm39)	M245V	possibly damaging	Het
Adgra1	G	T	7: 139,456,034 (GRCm39)	R554L	probably benign	Het
Agfg2	T	A	5: 137,653,664 (GRCm39)	M351L	probably benign	Het
Ahnak	G	A	19: 8,979,619 (GRCm39)	G301D	probably benign	Het
Ambra1	C	T	2: 91,602,697 (GRCm39)	A227V	possibly damaging	Het
Ankrd24	T	A	10: 81,474,152 (GRCm39)	D166E	unknown	Het
Anks1	C	T	17: 28,205,778 (GRCm39)	P341S	probably benign	Het
Ano4	C	T	10: 88,808,607 (GRCm39)	D766N	probably benign	Het
Apol7e	A	T	15: 77,602,007 (GRCm39)	T202S	possibly damaging	Het
Arhgap44	C	A	11: 64,929,479 (GRCm39)	C275F	probably damaging	Het
Arl6ip4	A	C	5: 124,255,095 (GRCm39)	K95T	probably damaging	Het
Bbs9	T	C	9: 22,590,284 (GRCm39)	L674P	probably damaging	Het
Bmp4	T	A	14: 46,621,972 (GRCm39)	M191L	probably benign	Het
Celsr1	A	G	15: 85,787,090 (GRCm39)	L2753P	probably damaging	Het
Cerkl	T	A	2: 79,163,901 (GRCm39)	H473L	probably benign	Het
Cfap99	A	T	5: 34,482,502 (GRCm39)	T538S	possibly damaging	Het
Clock	A	T	5: 76,375,051 (GRCm39)	V706E	probably damaging	Het
Cpne6	T	C	14: 55,749,485 (GRCm39)	M15T	probably benign	Het
Deaf1	T	C	7: 140,894,324 (GRCm39)	D351G	probably damaging	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
Eif3j1	A	T	2: 121,877,969 (GRCm39)	D119V	probably damaging	Het
Eps8l1	C	A	7: 4,474,297 (GRCm39)	S195Y	probably benign	Het
Exosc5	T	C	7: 25,365,769 (GRCm39)		probably null	Het
Fabp2	A	T	3: 122,690,419 (GRCm39)	H34L	probably benign	Het
Fbln5	T	A	12: 101,723,555 (GRCm39)	Q382L	probably damaging	Het
Fbxo34	C	A	14: 47,767,879 (GRCm39)	T464K	possibly damaging	Het
Fndc8	T	G	11: 82,788,686 (GRCm39)	V172G	probably damaging	Het
Frs2	C	T	10: 116,910,784 (GRCm39)	V193I	possibly damaging	Het
Gadd45a	A	G	6: 67,013,813 (GRCm39)	I44T	possibly damaging	Het
Gprin3	A	G	6: 59,331,456 (GRCm39)	S284P	possibly damaging	Het
Gsta4	T	C	9: 78,105,654 (GRCm39)	V28A	possibly damaging	Het
Herc1	T	A	9: 66,325,733 (GRCm39)	D1402E	probably benign	Het
Hipk2	A	T	6: 38,795,728 (GRCm39)	S180R	possibly damaging	Het
Hrg	A	T	16: 22,779,793 (GRCm39)	H357L	unknown	Het
Htr4	A	G	18: 62,570,971 (GRCm39)	Q342R	possibly damaging	Het
Impa1	A	G	3: 10,386,688 (GRCm39)	S184P	possibly damaging	Het
Iqgap3	A	T	3: 87,998,086 (GRCm39)	Q281L	probably damaging	Het
Kcnh8	C	T	17: 53,263,936 (GRCm39)	P811L	probably damaging	Het
Lpin1	T	C	12: 16,599,003 (GRCm39)	I628V		Het
Lrrc38	G	A	4: 143,077,303 (GRCm39)	G189R	probably damaging	Het
Mfn1	A	T	3: 32,622,538 (GRCm39)	I599F	possibly damaging	Het
Nalcn	T	A	14: 123,837,351 (GRCm39)	R4S	possibly damaging	Het
Nbeal2	C	T	9: 110,455,158 (GRCm39)	R2580Q	probably benign	Het
Nlrp4b	A	G	7: 10,448,319 (GRCm39)	N174S	probably damaging	Het
Or3a4	T	A	11: 73,945,305 (GRCm39)	R93S	probably benign	Het
Or4q3	A	T	14: 50,583,179 (GRCm39)	V240D	probably damaging	Het
Or52a5	A	T	7: 103,426,802 (GRCm39)	V250D	probably damaging	Het
Or5p63	A	G	7: 107,811,014 (GRCm39)	F241L	possibly damaging	Het
Pabpc2	G	A	18: 39,908,520 (GRCm39)	R595Q	probably benign	Het
Pak6	C	T	2: 118,520,578 (GRCm39)	Q190*	probably null	Het
Pds5a	A	T	5: 65,781,341 (GRCm39)	H1046Q	probably damaging	Het
Plin1	A	G	7: 79,373,028 (GRCm39)	S314P	probably benign	Het
Pramel20	T	G	4: 143,298,530 (GRCm39)	Y158D	probably benign	Het
Ptpra	G	A	2: 30,328,351 (GRCm39)	S224N	probably damaging	Het
Rbp1	T	G	9: 98,326,709 (GRCm39)	W107G	probably damaging	Het
Rgs7bp	T	C	13: 105,189,617 (GRCm39)	N61D	probably damaging	Het
Slc1a6	A	G	10: 78,627,067 (GRCm39)	T135A	probably damaging	Het
Smarcc1	T	A	9: 110,031,602 (GRCm39)	D783E	probably benign	Het
Sufu	G	T	19: 46,389,636 (GRCm39)	E86*	probably null	Het
Synm	A	T	7: 67,383,654 (GRCm39)	M1336K	probably benign	Het
Tgm1	C	T	14: 55,942,341 (GRCm39)	G670D	probably damaging	Het
Togaram1	T	C	12: 65,053,686 (GRCm39)	V1322A	probably damaging	Het
Uxs1	A	T	1: 43,810,911 (GRCm39)	I225K	possibly damaging	Het
Vil1	G	T	1: 74,474,052 (GRCm39)	E796*	probably null	Het
Vmn1r174	T	C	7: 23,453,568 (GRCm39)	F78S	probably damaging	Het
Vps13d	T	A	4: 144,879,321 (GRCm39)	I1501F		Het
Vps8	A	T	16: 21,393,780 (GRCm39)	T1216S	possibly damaging	Het
Yipf4	G	T	17: 74,800,967 (GRCm39)	R95L	probably damaging	Het
Zan	T	A	5: 137,465,346 (GRCm39)	T470S	probably damaging	Het
Zfp113	G	T	5: 138,143,258 (GRCm39)	H331N	probably damaging	Het
Zfp62	A	G	11: 49,106,902 (GRCm39)	Y331C	probably damaging	Het
Zfyve26	T	C	12: 79,327,610 (GRCm39)	H580R	probably benign	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
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
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'- CACTCCGTGGTCTACAAACC -3'
(R):5'- GTCACCTGAGCAGAATGAGG -3'

Sequencing Primer
(F):5'- CCCCCTGGTCAATGCTG -3'
(R):5'- CACGCTGGCTAGGAAGTG -3'

Posted On

2020-07-13