Mutagenetix > Incidental Mutation

Incidental Mutation 'R3853:Tmc6'

276025

Institutional Source

Beutler Lab

Gene Symbol

Tmc6

Ensembl Gene

ENSMUSG00000025572

Gene Name

transmembrane channel-like gene family 6

Synonyms

D11Ertd204e, EVER1

MMRRC Submission

040900-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3853 (G1)

Quality Score

221

Status

Validated

Chromosome

Chromosomal Location

117765988-117782198 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 117773058 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 474 (L474*)

Ref Sequence

ENSEMBL: ENSMUSP00000026659 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000026659
AA Change: L474*

SMART Domains

Protein: ENSMUSP00000026659
Gene: ENSMUSG00000025572
AA Change: L474*

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: 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: 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: 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

noncoding transcript
Transcript: ENSMUST00000148220

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 97.2%
20x: 94.4%

Validation Efficiency

96% (47/49)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	A	9: 124,293,346	H316L	probably damaging	Het
AI481877	T	C	4: 59,047,390	N1410D	possibly damaging	Het
Cadps	A	G	14: 12,509,090		probably benign	Het
Cluh	A	G	11: 74,656,453	D44G	probably benign	Het
Copb1	A	G	7: 114,223,316	V726A	probably damaging	Het
Dsg4	T	C	18: 20,449,234	V79A	probably benign	Het
Exo1	A	T	1: 175,892,988	I291F	probably benign	Het
Eya4	C	T	10: 23,116,676	A460T	probably damaging	Het
Gjc1	G	T	11: 102,800,126	D350E	probably benign	Het
Hcar2	T	C	5: 123,864,412	M343V	probably benign	Het
Ifna15	T	C	4: 88,557,809	Y146C	probably damaging	Het
Lce3e	C	T	3: 92,967,832	Q32*	probably null	Het
Llgl1	T	C	11: 60,707,249	L373P	probably damaging	Het
Mark2	A	G	19: 7,277,290	C642R	probably damaging	Het
Mbd3l2	A	G	9: 18,444,796	Q139R	probably benign	Het
Mki67	A	C	7: 135,696,130	S2392A	probably benign	Het
Mum1l1	C	T	X: 139,236,654		probably null	Het
Nynrin	T	A	14: 55,864,105	N410K	probably benign	Het
Olfr1243	A	T	2: 89,527,573	M279K	possibly damaging	Het
Olfr1354	T	A	10: 78,916,947	Y36N	probably damaging	Het
Olfr1466	A	G	19: 13,342,498	T247A	possibly damaging	Het
Olfr906	G	T	9: 38,488,951	R307S	probably benign	Het
Olfr978	A	T	9: 39,994,154	T115S	probably damaging	Het
Padi3	T	C	4: 140,791,269		probably benign	Het
Prkce	A	G	17: 86,168,849	D86G	probably damaging	Het
Rad21	T	G	15: 51,972,316	I234L	probably benign	Het
Scn4a	A	T	11: 106,320,106	M1695K	possibly damaging	Het
Sdccag8	T	C	1: 176,853,795	S325P	probably damaging	Het
Sebox	G	A	11: 78,504,149	G106R	probably benign	Het
Serpinb9	A	G	13: 33,015,520	E266G	possibly damaging	Het
Snx14	T	C	9: 88,407,319		probably benign	Het
Tmem132c	T	C	5: 127,359,869	Y141H	probably benign	Het
Trap1	G	A	16: 4,054,822	R328C	possibly damaging	Het
Trim36	C	A	18: 46,172,372		probably benign	Het
Trmt2a	A	T	16: 18,251,191	Y299F	possibly damaging	Het
Trrap	A	G	5: 144,792,165	K630E	probably damaging	Het
Tsnaxip1	A	T	8: 105,840,701		probably benign	Het
Ttc6	G	T	12: 57,728,549	C1677F	possibly damaging	Het
Ugt2a3	A	T	5: 87,337,159	V2D		Het
Usp9x	A	G	X: 13,098,583	D77G	probably benign	Het
Wfs1	C	A	5: 36,968,624	V308L	probably benign	Het
Zan	A	C	5: 137,474,064	L140R	probably damaging	Het
Zc3h3	A	T	15: 75,837,497	S508T	probably benign	Het
Zswim3	A	G	2: 164,820,857	Y419C	possibly 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
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
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'- AGGATGAGGTTCCTGTGCAG -3'
(R):5'- TGGCTGAGATTCCATAACCCC -3'

Sequencing Primer
(F):5'- CCTGTGCAGGTGGAGGG -3'
(R):5'- CCTGGAGCAAGCTGTGTGTC -3'

Posted On

2015-04-06