Mutagenetix > Incidental Mutation

Incidental Mutation 'R8802:Tmc6'

671569

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 #

R8802 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

117765988-117782198 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 117775075 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 338 (M338V)

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

possibly damaging
Transcript: ENSMUST00000026659
AA Change: M338V

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000026659
Gene: ENSMUSG00000025572
AA Change: M338V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (59/59)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	A	G	7: 12,515,488	T83A	possibly damaging	Het
Abcc6	A	G	7: 46,008,859	L451P	probably damaging	Het
Ak5	T	C	3: 152,615,994	E252G	probably damaging	Het
Atg4a-ps	T	A	3: 103,645,370	K218N	probably damaging	Het
Bglap2	T	A	3: 88,378,261	M35L	probably benign	Het
Bicral	A	G	17: 46,824,700	M528T	probably benign	Het
Cdh23	A	G	10: 60,409,098	V1008A	probably benign	Het
Chil6	A	T	3: 106,404,892	L31Q	probably damaging	Het
Ctnnd2	T	C	15: 30,966,876	V991A	probably damaging	Het
Dcc	T	C	18: 71,826,054	N216D	probably damaging	Het
Dcdc2c	T	A	12: 28,526,721	D106V	probably benign	Het
Dchs2	T	C	3: 83,346,237	I2318T	probably benign	Het
Fat2	A	G	11: 55,282,924	F2321S	possibly damaging	Het
Fbxw7	T	C	3: 84,952,386	V5A	unknown	Het
Fn3krp	T	C	11: 121,424,987	V68A	probably damaging	Het
Gcn1l1	T	C	5: 115,609,883	L1783P	probably damaging	Het
Gdf6	C	T	4: 9,844,769	H98Y	probably damaging	Het
Gm13271	C	A	4: 88,755,010	P48Q	probably damaging	Het
Gm4871	A	T	5: 145,030,066	N202K	probably benign	Het
Gucy1a2	G	A	9: 3,635,050	V365I	probably benign	Het
Hadhb	C	T	5: 30,173,833	Q157*	probably null	Het
Hivep2	C	T	10: 14,139,422	R1778C	probably damaging	Het
Hmcn2	T	A	2: 31,411,276	V2845E	probably damaging	Het
Hps3	T	A	3: 20,019,906	I431L	probably damaging	Het
Idh1	CA	CAA	1: 65,165,188		probably null	Het
Igkv12-38	A	T	6: 69,943,406	C43S	probably damaging	Het
Jph2	T	A	2: 163,397,264	H88L	probably damaging	Het
Kmt2b	G	A	7: 30,584,071	R955W	probably damaging	Het
Lrrc4c	A	G	2: 97,630,258	T410A	possibly damaging	Het
Ltf	C	T	9: 111,020,950	P14S	probably benign	Het
Mapk8ip3	G	A	17: 24,905,232	R521C	probably damaging	Het
Nampt	C	A	12: 32,850,436	T460K	probably benign	Het
Nek9	T	C	12: 85,327,418	I282V	probably benign	Het
Ninl	A	T	2: 150,935,252	V1394E	probably damaging	Het
Obox6	G	A	7: 15,833,847	S225L	probably damaging	Het
Olfr424	A	G	1: 174,137,050	Y102C	probably damaging	Het
Pcdha4	A	G	18: 36,954,158	K465E	possibly damaging	Het
Pex11g	T	C	8: 3,457,308	K151R	unknown	Het
Pld2	T	C	11: 70,555,998	L811P	probably damaging	Het
Pum2	C	T	12: 8,728,726	R459*	probably null	Het
Ralgapa1	T	C	12: 55,738,316	S720G	probably damaging	Het
Rbbp6	T	A	7: 122,988,457		probably benign	Het
Rbl1	A	G	2: 157,196,153		probably null	Het
Reln	G	T	5: 21,925,259	R2685S	probably damaging	Het
Rnf213	T	C	11: 119,462,102	F3942L		Het
Rpusd2	T	C	2: 119,034,897	V25A	probably benign	Het
Rusc1	T	A	3: 89,092,233	I81L	probably benign	Het
Serpinb9b	A	G	13: 33,029,604	E48G	probably benign	Het
Skil	C	T	3: 31,113,443	P408L	probably damaging	Het
Slc17a4	A	G	13: 23,905,291	W186R	probably damaging	Het
Syvn1	T	C	19: 6,047,938	F2S	probably benign	Het
Tnfrsf17	A	T	16: 11,319,955	R185S	possibly damaging	Het
Utp20	T	C	10: 88,747,295	K2732R	probably damaging	Het
Vmn1r58	A	T	7: 5,411,081	V50E	probably damaging	Het
Vmn2r114	T	A	17: 23,309,862	D422V	possibly damaging	Het
Vmn2r83	A	T	10: 79,478,427	I170F	probably benign	Het
Xdh	C	T	17: 73,918,410	V466I	probably benign	Het
Xndc1	A	G	7: 102,071,332	I6V	possibly damaging	Het
Zbtb38	T	C	9: 96,685,570	T1154A	probably benign	Het
Zfp160	T	A	17: 21,026,605	H472Q	probably damaging	Het
Zfp438	T	A	18: 5,213,417	T514S	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
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
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'- CTCAATAGGAACATGGGTAGGC -3'
(R):5'- TCTTCTGGAGGCCCAAGAATG -3'

Sequencing Primer
(F):5'- CATGGGTAGGCAGACATGG -3'
(R):5'- GCTGTATTAAAGGGTCGCAGCATTAC -3'

Posted On

2021-04-30