Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4520001:Tmc6'

555192

Institutional Source

Beutler Lab

Gene Symbol

Tmc6

Ensembl Gene

ENSMUSG00000025572

Gene Name

transmembrane channel-like gene family 6

Synonyms

D11Ertd204e, EVER1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4520001 (G1)

Quality Score

139.008

Status

Not validated

Chromosome

Chromosomal Location

117765988-117782198 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 117772730 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 552 (M552K)

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

possibly damaging
Transcript: ENSMUST00000026659
AA Change: M552K

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000026659
Gene: ENSMUSG00000025572
AA Change: M552K

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

SMART Domains

Protein: ENSMUSP00000116521
Gene: ENSMUSG00000025572
AA Change: M73K

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

Coding Region Coverage

1x: 93.5%
3x: 91.1%
10x: 86.1%
20x: 75.5%

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

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	A	G	11: 7,167,133	N1000S	probably damaging	Het
Adgrb1	A	G	15: 74,541,659	D564G	probably damaging	Het
Ankmy2	A	G	12: 36,157,391	E12G	probably benign	Het
Arid1a	C	T	4: 133,681,916	S1375N	unknown	Het
Atp1a2	G	A	1: 172,279,374	A793V	probably benign	Het
Atp8b1	T	C	18: 64,568,180	Y369C	probably benign	Het
Catsperg2	A	G	7: 29,710,161	Y536H	possibly damaging	Het
Ccdc178	A	G	18: 22,067,413	Y445H	probably damaging	Het
Cep170	G	T	1: 176,780,199	N230K	unknown	Het
Cftr	A	G	6: 18,277,843	I977V	probably benign	Het
Chek2	A	G	5: 110,863,329	Y331C	probably damaging	Het
Chst13	A	T	6: 90,309,185	I265K	probably benign	Het
Coil	T	C	11: 88,981,611	M266T	probably benign	Het
Col16a1	T	A	4: 130,051,663	C28S	unknown	Het
Col3a1	T	C	1: 45,335,783		probably null	Het
Csmd1	C	T	8: 15,906,023	V3395M	probably benign	Het
Cyp51	A	G	5: 4,101,200	V143A	probably damaging	Het
Eif2ak1	C	T	5: 143,899,209	Q573*	probably null	Het
Eif2ak4	T	A	2: 118,462,327	I1344N	probably damaging	Het
Fam160a1	G	A	3: 85,672,472	Q809*	probably null	Het
Gen1	A	G	12: 11,241,508	V825A	probably benign	Het
Gm28042	A	T	2: 120,039,667	K696*	probably null	Het
Gm4952	A	G	19: 12,624,684	Y152C	probably benign	Het
Hdac3	G	A	18: 37,941,764	T308I	probably damaging	Het
Hpx	T	C	7: 105,592,134	T357A	probably benign	Het
Hscb	A	T	5: 110,835,985	Y139N	probably damaging	Het
Kcnk9	T	A	15: 72,512,483	H282L	probably benign	Het
Kdm2b	G	A	5: 122,941,047	T287M	probably damaging	Het
Kif19a	C	T	11: 114,781,208	T207M	probably damaging	Het
Kmt2c	A	C	5: 25,315,666	N1815K	probably benign	Het
Ktn1	C	T	14: 47,686,317	T511M	probably damaging	Het
Lrp1	C	G	10: 127,607,974	Q141H	possibly damaging	Het
Lrrc43	T	C	5: 123,492,467	V131A	possibly damaging	Het
Man1b1	T	A	2: 25,343,270	H218Q	probably damaging	Het
Mapk8ip2	T	A	15: 89,460,697	C766S	probably damaging	Het
Mfn1	A	G	3: 32,561,546	N353D	probably benign	Het
Mtcl1	A	T	17: 66,385,912	L474Q	possibly damaging	Het
Mtr	T	A	13: 12,197,985	R915*	probably null	Het
Myh6	C	A	14: 54,950,124	V1263L	probably benign	Het
Nt5m	C	A	11: 59,874,589	L148M	probably benign	Het
Olfr1053	T	C	2: 86,314,798	I163V	possibly damaging	Het
Olfr1200	A	G	2: 88,767,577	V246A	possibly damaging	Het
Olfr574	A	T	7: 102,948,714	D83V	probably damaging	Het
Pbrm1	T	A	14: 31,067,861	F811I	probably damaging	Het
Pcnt	A	G	10: 76,420,235	S724P	probably damaging	Het
Pfdn5	C	A	15: 102,328,723	D98E	probably benign	Het
Ptprs	G	A	17: 56,414,980	P1715S	probably damaging	Het
Rtkn2	T	A	10: 67,987,461	L65Q	probably damaging	Het
Scn2a	G	A	2: 65,688,419	R379H	probably damaging	Het
Scn5a	G	T	9: 119,534,570	D501E	possibly damaging	Het
Spn	C	A	7: 127,136,439	G299W	probably damaging	Het
St6galnac1	T	C	11: 116,769,349	N46S	probably benign	Het
Stx19	A	G	16: 62,822,508	D229G	probably benign	Het
Tnpo3	G	C	6: 29,555,222	D787E	possibly damaging	Het
Tyw5	T	C	1: 57,388,515	Y310C	probably damaging	Het
Vmn2r15	A	G	5: 109,287,005	F611S	probably damaging	Het
Vmn2r49	C	T	7: 9,989,061	M95I	probably benign	Het
Wfdc8	A	G	2: 164,603,303	S131P	probably benign	Het
Zfp407	A	T	18: 84,432,420	M1597K	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
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
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'- CCGGGACATGATGACTTCTC -3'
(R):5'- TACATGGCCATCTGCAGGTG -3'

Sequencing Primer
(F):5'- TCCGCTGTCTATAAGCAATACTG -3'
(R):5'- TAGGGCTCCTCGGAGTGTC -3'

Posted On

2019-06-07