Mutagenetix > Incidental Mutation

Incidental Mutation 'R5667:Tmc6'

444486

Institutional Source

Beutler Lab

Gene Symbol

Tmc6

Ensembl Gene

ENSMUSG00000025572

Gene Name

transmembrane channel-like gene family 6

Synonyms

D11Ertd204e, EVER1

MMRRC Submission

043310-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5667 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117765988-117782198 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 117775615 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 288 (S288P)

Ref Sequence

ENSEMBL: ENSMUSP00000099314 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026659] [ENSMUST00000103025] [ENSMUST00000127227] [ENSMUST00000131606] [ENSMUST00000136729] [ENSMUST00000143406] [ENSMUST00000152304]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026659
AA Change: S288P

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000026659
Gene: ENSMUSG00000025572
AA Change: S288P

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

possibly damaging
Transcript: ENSMUST00000103025
AA Change: S288P

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099314
Gene: ENSMUSG00000025572
AA Change: S288P

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: 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: ENSMUST00000149589

SMART Domains

Protein: ENSMUSP00000116521
Gene: ENSMUSG00000025572

Domain	Start	End	E-Value	Type
Pfam:TMC	61	108	1.3e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152304

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

96% (54/56)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
4930444G20Rik	T	A	10: 22,066,843	T413S	possibly damaging	Het
4932438A13Rik	A	T	3: 36,917,677	T520S	probably benign	Het
Adamts16	A	T	13: 70,836,375	Y56*	probably null	Het
Ak2	T	A	4: 129,008,247	F238I	probably damaging	Het
Akap8l	T	C	17: 32,338,292	Y115C	probably damaging	Het
Alms1	A	G	6: 85,696,771	D3116G	probably damaging	Het
Arhgap24	T	G	5: 102,846,171		probably null	Het
Arhgap45	A	G	10: 80,025,476	E491G	probably damaging	Het
Atp8b1	C	T	18: 64,581,923	C86Y	probably damaging	Het
Atxn1	T	C	13: 45,557,377	K693R	probably benign	Het
BC003965	G	A	17: 25,184,989	S101N	probably damaging	Het
Btbd10	T	C	7: 113,332,724	K165R	probably damaging	Het
Capn11	C	T	17: 45,639,674	R293Q	possibly damaging	Het
Chordc1	T	G	9: 18,295,332	F33V	probably damaging	Het
Clca4b	G	A	3: 144,921,863	T449I	probably benign	Het
Clip4	A	C	17: 71,789,883	M1L	probably damaging	Het
Cyfip1	C	T	7: 55,873,730	T90I	probably benign	Het
Cyp4v3	G	T	8: 45,308,535	T417K	possibly damaging	Het
D430042O09Rik	T	A	7: 125,843,455		probably null	Het
Exoc3l4	T	C	12: 111,423,417	I142T	probably damaging	Het
Flnb	T	A	14: 7,890,843	I575N	probably benign	Het
Foxa1	A	T	12: 57,542,295	S380T	probably benign	Het
Foxi2	A	T	7: 135,410,939		probably null	Het
Gad1-ps	A	T	10: 99,444,533		noncoding transcript	Het
Gpa33	A	G	1: 166,146,791	T66A	possibly damaging	Het
Gpr45	A	G	1: 43,033,058	Y287C	probably damaging	Het
H2-Eb1	C	A	17: 34,314,255	Y150*	probably null	Het
H2-Ke6	T	C	17: 34,026,461	D233G	probably null	Het
Ifna6	A	T	4: 88,827,669	Q85L	probably damaging	Het
Ivns1abp	G	T	1: 151,354,009	L149F	probably benign	Het
Kank4	A	G	4: 98,765,461		probably null	Het
Lama2	A	T	10: 27,190,544	C1114S	probably damaging	Het
Lmbr1l	A	C	15: 98,907,608	D337E	possibly damaging	Het
Lrrn3	A	C	12: 41,452,298	S673R	possibly damaging	Het
Ly75	T	C	2: 60,308,311	D1404G	probably damaging	Het
Muc4	A	G	16: 32,753,720	T1199A	probably benign	Het
Mycn	A	T	12: 12,940,044	M117K	possibly damaging	Het
Nalcn	A	G	14: 123,295,406	I1314T	probably damaging	Het
Nod1	T	C	6: 54,933,576	T869A	probably benign	Het
Olfr1285	C	T	2: 111,408,473		noncoding transcript	Het
Olfr1388	T	C	11: 49,444,313	V154A	probably benign	Het
Plekhg2	A	T	7: 28,367,639	I356N	probably damaging	Het
Ptpru	T	A	4: 131,820,190	Y112F	possibly damaging	Het
Rpl36al	G	A	12: 69,183,123	P5L	possibly damaging	Het
Ryr2	A	G	13: 11,759,836	W1145R	probably damaging	Het
Slc11a2	A	G	15: 100,403,288	Y295H	probably damaging	Het
Slc22a6	A	G	19: 8,621,784		probably null	Het
Styxl1	A	G	5: 135,757,123		probably null	Het
Trpv4	A	G	5: 114,634,556	L371P	probably damaging	Het
Usp8	A	G	2: 126,742,425	D518G	probably benign	Het
Washc4	T	C	10: 83,570,028	S463P	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
R4049:Tmc6	UTSW	11	117778261	missense	possibly damaging	0.88
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
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'- GCGTGCTGTTACTGTAGTAGCC -3'
(R):5'- ACTGCTCTCAGGCCTGTATG -3'

Sequencing Primer
(F):5'- GTAATGCTGCGACCCTTTAATACAGC -3'
(R):5'- TCAGGCCTGTATGCTGCCAG -3'

Posted On

2016-11-09