Mutagenetix > Incidental Mutation

Incidental Mutation 'R5763:Tmc6'

446137

Institutional Source

Beutler Lab

Gene Symbol

Tmc6

Ensembl Gene

ENSMUSG00000025572

Gene Name

transmembrane channel-like gene family 6

Synonyms

D11Ertd204e, EVER1

MMRRC Submission

043364-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5763 (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 117769433 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 660 (F660L)

Ref Sequence

ENSEMBL: ENSMUSP00000026659 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026659
AA Change: F660L

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000026659
Gene: ENSMUSG00000025572
AA Change: F660L

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: ENSMUST00000131606

SMART Domains

Protein: ENSMUSP00000123264
Gene: ENSMUSG00000025572

Domain	Start	End	E-Value	Type
low complexity region	58	68	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

0.2750

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

97% (70/72)

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
AA986860	A	G	1: 130,743,031	H330R	possibly damaging	Het
Acot11	C	T	4: 106,760,130	G240R	probably damaging	Het
Actl6b	T	A	5: 137,566,801	L314Q	possibly damaging	Het
Adam22	A	T	5: 8,134,544	C483S	probably damaging	Het
Adamts7	T	A	9: 90,188,409	L601H	probably damaging	Het
Agl	A	T	3: 116,753,360	D1280E	probably damaging	Het
Ankrd60	TGGCCACGCGG	TGG	2: 173,578,089		probably null	Het
Astn2	T	A	4: 65,729,331	M757L	probably benign	Het
Atr	A	G	9: 95,945,123	M2407V	probably benign	Het
Brca2	T	C	5: 150,548,006	F2283L	possibly damaging	Het
Brwd1	A	T	16: 96,033,843	Y940*	probably null	Het
Camk2g	A	T	14: 20,739,347	N218K	probably damaging	Het
Ces2a	C	T	8: 104,736,124	P115L	probably benign	Het
Col11a1	T	C	3: 114,094,596		probably benign	Het
Col1a2	T	A	6: 4,515,682	D150E	unknown	Het
Crybg3	A	G	16: 59,554,610	S2094P	possibly damaging	Het
Cttnbp2	T	C	6: 18,414,299	N916D	probably benign	Het
Ddx24	A	G	12: 103,417,414	F593L	probably damaging	Het
Dhx16	G	A	17: 35,881,688	E171K	possibly damaging	Het
Dnah5	T	C	15: 28,311,152	I1759T	probably damaging	Het
Dnah9	C	A	11: 65,955,239	S2991I	probably damaging	Het
Entpd7	G	T	19: 43,704,266	V87L	probably damaging	Het
Fam221a	T	G	6: 49,378,584	L207V	probably damaging	Het
Foxm1	T	A	6: 128,366,108	I135N	probably benign	Het
Gabpa	C	A	16: 84,860,409	Q391K	possibly damaging	Het
Gipr	T	A	7: 19,163,550	H111L	probably damaging	Het
Gm884	G	A	11: 103,613,643	P324S	probably damaging	Het
Gmip	A	G	8: 69,817,851	D737G	probably damaging	Het
Herc6	T	A	6: 57,662,887	N995K	probably damaging	Het
Ldha	G	A	7: 46,847,789		probably benign	Het
Masp1	T	C	16: 23,496,247	E88G	probably damaging	Het
Micalcl	G	A	7: 112,374,654		probably null	Het
Mill1	T	A	7: 18,245,662	V18E	probably benign	Het
Mrgpra3	A	T	7: 47,589,607	C190*	probably null	Het
Nog	C	T	11: 89,301,465	V186M	probably damaging	Het
Nrxn2	T	C	19: 6,531,339	F392L	probably benign	Het
Olfr1252	T	A	2: 89,722,028	M28L	probably benign	Het
Olfr367-ps	T	C	2: 37,271,013		noncoding transcript	Het
Olfr393	T	A	11: 73,847,867	Q86L	probably benign	Het
Olfr530	T	A	7: 140,373,655		probably null	Het
Olfr746	T	C	14: 50,654,068	I277T	possibly damaging	Het
Phyhd1	T	A	2: 30,279,971	D158E	probably damaging	Het
Pik3r4	G	T	9: 105,669,775	K917N	probably benign	Het
Pnma1	A	G	12: 84,147,350	V193A	possibly damaging	Het
Podxl2	T	C	6: 88,849,823	E167G	probably damaging	Het
Prss50	A	T	9: 110,862,449	K82*	probably null	Het
Qsox1	A	G	1: 155,779,879	S513P	probably benign	Het
Rheb	A	G	5: 24,807,787	V98A	probably benign	Het
Rhoj	A	G	12: 75,391,832	I131V	probably benign	Het
Rsph4a	A	T	10: 33,905,688	D178V	probably damaging	Het
Setd2	T	G	9: 110,556,275		probably null	Het
Siglecf	A	T	7: 43,356,320	K434*	probably null	Het
Slc14a1	T	C	18: 78,116,414	Y88C	probably benign	Het
Snx15	T	C	19: 6,122,110	E89G	probably damaging	Het
Son	C	T	16: 91,657,490	R1042C	probably damaging	Het
Srsf11	C	T	3: 158,023,344		probably benign	Het
Suz12	C	A	11: 80,025,308	Y457*	probably null	Het
Tet1	T	A	10: 62,840,068	N743I	probably damaging	Het
Tnpo1	A	C	13: 98,859,937	I452S	possibly damaging	Het
Trav4-3	G	T	14: 53,599,387	G103V	probably damaging	Het
Ubap2	T	C	4: 41,195,809	K994E	probably damaging	Het
Vmn2r14	T	C	5: 109,215,858	T731A	possibly damaging	Het
Vmn2r52	T	A	7: 10,171,304	I203L	probably benign	Het
Zfp663	G	T	2: 165,358,435	S75*	probably null	Het
Zik1	G	T	7: 10,492,366	H25N	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
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'- ACCGTGCCTGCTTCATACATG -3'
(R):5'- TACTCTTATAGGACCAGCGTGG -3'

Sequencing Primer
(F):5'- CATACATGGTGTTCAGAGTCCG -3'
(R):5'- GGGGGATGGAGTTTGGC -3'

Posted On

2016-11-21