Mutagenetix > Incidental Mutation

Incidental Mutation 'R4049:Tmc6'

314056

Institutional Source

Beutler Lab

Gene Symbol

Tmc6

Ensembl Gene

ENSMUSG00000025572

Gene Name

transmembrane channel-like gene family 6

Synonyms

D11Ertd204e, EVER1

MMRRC Submission

041616-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4049 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117765988-117782198 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 117778261 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 89 (T89I)

Ref Sequence

ENSEMBL: ENSMUSP00000123264 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026659
AA Change: T137I

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000026659
Gene: ENSMUSG00000025572
AA Change: T137I

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

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

possibly damaging
Transcript: ENSMUST00000103025
AA Change: T137I

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099314
Gene: ENSMUSG00000025572
AA Change: T137I

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

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 benign
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 benign
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

probably benign
Transcript: ENSMUST00000127080

SMART Domains

Protein: ENSMUSP00000115270
Gene: ENSMUSG00000050106

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

Predicted Effect

probably benign
Transcript: ENSMUST00000127227

Predicted Effect

possibly damaging
Transcript: ENSMUST00000131606
AA Change: T89I

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123264
Gene: ENSMUSG00000025572
AA Change: T89I

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

possibly damaging
Transcript: ENSMUST00000143406
AA Change: T137I

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000117566
Gene: ENSMUSG00000025572
AA Change: T137I

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (65/65)

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 10 transmembrane domains and 2 leucine zipper motifs. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,868,669	E1190V	probably damaging	Het
Arhgef10	A	G	8: 14,979,998	T928A	probably benign	Het
Arhgef10l	T	A	4: 140,515,451	I836F	probably benign	Het
Blm	T	A	7: 80,502,862	T446S	probably benign	Het
Ccdc63	T	A	5: 122,122,750	Q237L	probably damaging	Het
Cep57l1	G	T	10: 41,729,360	R130S	probably damaging	Het
Clstn2	T	G	9: 97,457,560	E786A	possibly damaging	Het
Col16a1	C	T	4: 130,068,752	P540L	probably damaging	Het
Csf2	A	G	11: 54,249,333	F61L	probably damaging	Het
Ctr9	C	T	7: 111,055,543	R1094C	unknown	Het
Cyp3a41a	A	G	5: 145,713,540	C98R	probably damaging	Het
Dthd1	T	A	5: 62,827,165	C404*	probably null	Het
Egfem1	A	C	3: 29,686,731	H518P	probably benign	Het
Elf3	T	C	1: 135,254,277	S369G	probably benign	Het
Eml6	C	T	11: 29,838,577	V503M	probably damaging	Het
Enthd1	T	C	15: 80,560,039	D105G	probably damaging	Het
Eral1	A	G	11: 78,075,602	L250P	probably damaging	Het
Gdf15	A	T	8: 70,629,955	M167K	probably benign	Het
Ggps1	T	C	13: 14,053,699	K300E	probably benign	Het
Gm8074	G	A	9: 78,322,336		noncoding transcript	Het
Herc3	A	G	6: 58,876,837	I623V	probably damaging	Het
Mad1l1	A	G	5: 140,132,816	S457P	probably damaging	Het
Map1lc3a	G	T	2: 155,277,542	V91F	possibly damaging	Het
Map4k3	A	G	17: 80,605,965	V617A	probably benign	Het
Mov10l1	T	A	15: 88,995,032		probably benign	Het
Mroh2a	A	G	1: 88,258,664	S64G	probably benign	Het
Ncor1	G	T	11: 62,329,668		probably null	Het
Nfe2	C	T	15: 103,250,937	E36K	possibly damaging	Het
Olfr1176	T	C	2: 88,343,800		probably null	Het
Olfr1212	A	G	2: 88,959,273	K269R	probably benign	Het
Olfr1251	T	C	2: 89,667,662	I75V	probably benign	Het
Olfr653	T	C	7: 104,580,368	F241L	probably benign	Het
Oprm1	G	A	10: 6,829,087	V95I	probably benign	Het
Pcdha9	T	A	18: 36,997,942	H21Q	probably benign	Het
Pcolce2	A	T	9: 95,638,755	I62F	probably damaging	Het
Pfpl	T	A	19: 12,429,689	C435S	probably damaging	Het
Pkhd1l1	G	A	15: 44,498,557	C542Y	probably damaging	Het
Plekha5	T	C	6: 140,583,871	S75P	probably damaging	Het
Pphln1	C	A	15: 93,465,106	A202E	probably damaging	Het
Ppp1r1a	A	G	15: 103,532,454	L92P	probably damaging	Het
Prokr2	T	C	2: 132,381,494	T43A	probably benign	Het
Rai14	T	C	15: 10,592,212	N199S	probably benign	Het
Rasgrp2	T	C	19: 6,404,727	L199P	probably damaging	Het
Rnf213	A	C	11: 119,482,448	M4939L	possibly damaging	Het
Slc23a2	C	T	2: 132,060,683	R533Q	probably benign	Het
Slc7a7	T	C	14: 54,373,091		probably null	Het
Snrpd2	T	A	7: 19,151,307	V31E	probably damaging	Het
Spire1	G	T	18: 67,529,031		probably null	Het
Srsf4	T	C	4: 131,900,543		probably benign	Het
Tcf20	A	G	15: 82,853,429	S1274P	probably damaging	Het
Tcof1	C	A	18: 60,832,903	A376S	possibly damaging	Het
Thsd1	T	A	8: 22,243,164	Y76N	possibly damaging	Het
Timm44	A	G	8: 4,260,561	V397A	probably benign	Het
Trbv31	C	A	6: 41,557,705	C107F	probably damaging	Het
Trim37	T	A	11: 87,140,603		probably null	Het
Ttll5	T	C	12: 86,012,799	V1226A	probably benign	Het
Ube3b	T	C	5: 114,412,870	V865A	probably benign	Het
Vmn2r86	A	T	10: 130,447,097	M550K	probably damaging	Het
Vps54	C	A	11: 21,300,183	T373N	probably benign	Het
Wdr64	T	G	1: 175,805,856	I891S	probably benign	Het
Wisp2	A	G	2: 163,828,984	D137G	probably damaging	Het
Zfhx4	C	T	3: 5,398,859	S1384L	probably damaging	Het
Zfp703	A	G	8: 26,979,085	E259G	possibly damaging	Het
Zfp933	T	C	4: 147,826,512	H209R	probably damaging	Het
Zfp980	A	G	4: 145,702,600	H633R	probably damaging	Het

Other mutations in Tmc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00763:Tmc6	APN	11	117779046	missense	probably damaging	0.99
IGL02637:Tmc6	APN	11	117767590	missense	possibly damaging	0.94
PIT4520001:Tmc6	UTSW	11	117772730	missense	possibly damaging	0.55
R0140:Tmc6	UTSW	11	117766251	unclassified	probably benign
R0149:Tmc6	UTSW	11	117769448	missense	probably damaging	1.00
R0437:Tmc6	UTSW	11	117778261	missense	possibly damaging	0.88
R1566:Tmc6	UTSW	11	117769436	missense	probably damaging	0.99
R2011:Tmc6	UTSW	11	117769406	missense	probably damaging	1.00
R2012:Tmc6	UTSW	11	117769406	missense	probably damaging	1.00
R2169:Tmc6	UTSW	11	117769106	missense	probably damaging	1.00
R2568:Tmc6	UTSW	11	117772820	missense	probably benign	0.08
R3853:Tmc6	UTSW	11	117773058	nonsense	probably null
R4655:Tmc6	UTSW	11	117773042	missense	possibly damaging	0.62
R4708:Tmc6	UTSW	11	117768948	missense	probably benign	0.00
R5001:Tmc6	UTSW	11	117770784	missense	probably benign	0.28
R5115:Tmc6	UTSW	11	117775188	missense	probably damaging	0.98
R5551:Tmc6	UTSW	11	117769445	missense	probably damaging	1.00
R5667:Tmc6	UTSW	11	117775615	missense	possibly damaging	0.87
R5671:Tmc6	UTSW	11	117775615	missense	possibly damaging	0.87
R5763:Tmc6	UTSW	11	117769433	missense	possibly damaging	0.90
R6137:Tmc6	UTSW	11	117776328	missense	probably damaging	1.00
R6354:Tmc6	UTSW	11	117774236	missense	probably benign	0.32
R6418:Tmc6	UTSW	11	117770500	missense	probably damaging	0.99
R6868:Tmc6	UTSW	11	117774317	missense	probably benign	0.01
R7006:Tmc6	UTSW	11	117774257	missense	probably damaging	0.96
R7208:Tmc6	UTSW	11	117776325	missense	probably benign	0.41
R7210:Tmc6	UTSW	11	117775844	missense	possibly damaging	0.59
R7633:Tmc6	UTSW	11	117769220	missense	probably benign
R8802:Tmc6	UTSW	11	117775075	missense	possibly damaging	0.81
R8959:Tmc6	UTSW	11	117770467	critical splice donor site	probably null
R9002:Tmc6	UTSW	11	117770482	missense	probably damaging	1.00
R9621:Tmc6	UTSW	11	117779169	missense	probably benign	0.00
Z1177:Tmc6	UTSW	11	117778747	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGGGGTTTAAATACCAGCCC -3'
(R):5'- TGAGAACTTTTCAGAAGGGCATG -3'

Sequencing Primer
(F):5'- AGCCCTGGAAAAGACCTCGG -3'
(R):5'- CTTTTCAGAAGGGCATGAGGCTAG -3'

Posted On

2015-04-30