Mutagenetix > Incidental Mutation

Incidental Mutation 'R6354:Tmc6'

512982

Institutional Source

Beutler Lab

Gene Symbol

Tmc6

Ensembl Gene

ENSMUSG00000025572

Gene Name

transmembrane channel-like gene family 6

Synonyms

D11Ertd204e, EVER1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6354 (G1)

Quality Score

193.009

Status

Validated

Chromosome

Chromosomal Location

117765988-117782198 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 117774236 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 404 (C404G)

Ref Sequence

ENSEMBL: ENSMUSP00000026659 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000026659
AA Change: C404G

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000026659
Gene: ENSMUSG00000025572
AA Change: C404G

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: 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

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.5%
20x: 95.3%

Validation Efficiency

100% (56/56)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	T	C	11: 109,794,216	K152E	probably benign	Het
Adamts20	C	A	15: 94,347,810	C537F	probably damaging	Het
Apc	A	T	18: 34,312,528	T808S	probably benign	Het
Atad3a	A	G	4: 155,753,945	I205T	possibly damaging	Het
Casz1	G	T	4: 148,952,542	G1754C	unknown	Het
Ccdc62	C	T	5: 123,944,204	A232V	probably damaging	Het
Cdc27	C	A	11: 104,534,748	D81Y	probably damaging	Het
Cep126	A	G	9: 8,099,927	S869P	probably damaging	Het
Ciita	A	T	16: 10,523,746	K983N	probably damaging	Het
Clstn1	A	C	4: 149,643,216	Q523P	probably benign	Het
Cpb2	T	C	14: 75,257,705		probably null	Het
Crybg2	A	G	4: 134,091,136	D1710G	probably benign	Het
Csmd3	C	T	15: 47,881,489	G1370D	probably damaging	Het
Cwf19l1	G	T	19: 44,127,473	D172E	probably benign	Het
Cyp4a14	A	G	4: 115,487,244	F475L	probably damaging	Het
Fam98c	C	T	7: 29,152,847	V298M	probably damaging	Het
Gcsh	T	C	8: 116,983,843	N127S	probably benign	Het
Gimap4	T	C	6: 48,686,880	F10S	possibly damaging	Het
Gm4787	C	T	12: 81,377,981	A468T	probably damaging	Het
Gm5111	G	A	6: 48,590,334		probably benign	Het
Gm7137	C	A	10: 77,787,647		probably benign	Het
Inpp1	A	G	1: 52,797,065	S81P	probably damaging	Het
Iqce	T	C	5: 140,676,335		probably null	Het
Ivl	CCTGCTGCTGCTGCT	CCTGCTGCTGCT	3: 92,571,910		probably benign	Het
Krtap13	C	A	16: 88,751,243	C119F	probably damaging	Het
Lama2	G	T	10: 27,212,068	D904E	probably damaging	Het
Lrrc37a	T	A	11: 103,464,387	I2535F	unknown	Het
Lrrc40	T	A	3: 158,061,264	L452*	probably null	Het
Meis1	A	T	11: 19,016,184	M63K	possibly damaging	Het
Mpo	T	A	11: 87,797,346	I277N	possibly damaging	Het
Mtmr11	T	A	3: 96,168,676	F406I	probably benign	Het
Muc4	T	C	16: 32,754,358	S1411P	probably benign	Het
Odf3	A	G	7: 140,850,614		probably null	Het
Olfr10	A	T	11: 49,317,638	I31F	probably damaging	Het
Olfr1189	T	A	2: 88,592,134	I110N	probably damaging	Het
Olfr683	G	A	7: 105,143,708	T195I	probably benign	Het
Phf21a	G	A	2: 92,348,937	G298R	probably damaging	Het
Phldb2	T	C	16: 45,825,114	Y368C	probably damaging	Het
Pik3cb	G	T	9: 99,073,643	T407K	probably benign	Het
Robo3	A	T	9: 37,417,217		probably benign	Het
Sgsm1	T	G	5: 113,282,656	T288P	probably damaging	Het
Slc5a7	A	G	17: 54,277,033	S410P	probably damaging	Het
Tnrc6c	A	T	11: 117,749,614	Q1410L	possibly damaging	Het
Trak1	A	T	9: 121,451,726	T384S	probably null	Het
Txlna	A	T	4: 129,634,412	L244Q	probably damaging	Het
Ube3c	T	C	5: 29,663,583	F939L	probably damaging	Het
Vmn2r65	T	A	7: 84,940,366	I781F	probably benign	Het
Vmn2r72	A	G	7: 85,750,539		probably null	Het
Vps36	T	C	8: 22,205,755	S109P	probably damaging	Het
Wdr66	C	T	5: 123,302,755	T1125I	probably damaging	Het
Wrn	T	C	8: 33,343,638	I82M	possibly damaging	Het
Zbtb49	T	C	5: 38,203,559	R511G	possibly damaging	Het
Zeb1	A	G	18: 5,772,743	T1011A	possibly damaging	Het
Zfhx4	T	C	3: 5,401,951	S2390P	probably benign	Het
Zfp619	C	A	7: 39,534,819	T91K	probably benign	Het
Zfp644	A	G	5: 106,636,753	S643P	probably benign	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
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
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'- CAGGGATAATGCCACGGAGG -3'
(R):5'- ATCACCTGTCTGTCTACCCA -3'

Sequencing Primer
(F):5'- GCCCCAGCTGAAGTAAGGTAC -3'
(R):5'- ATCCTCCCATTGTTCACTGCTTG -3'

Posted On

2018-04-27