Mutagenetix > Incidental Mutation

Incidental Mutation 'R2568:Tmc6'

254647

Institutional Source

Beutler Lab

Gene Symbol

Tmc6

Ensembl Gene

ENSMUSG00000025572

Gene Name

transmembrane channel-like gene family 6

Synonyms

EVER1, D11Ertd204e

MMRRC Submission

040427-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2568 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

117656811-117673019 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 117663646 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 522 (V522A)

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 benign
Transcript: ENSMUST00000026659
AA Change: V522A

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000026659
Gene: ENSMUSG00000025572
AA Change: V522A

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

unknown
Transcript: ENSMUST00000149589
AA Change: V43A

SMART Domains

Protein: ENSMUSP00000116521
Gene: ENSMUSG00000025572
AA Change: V43A

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730071L15Rik	A	T	11: 6,150,161 (GRCm39)		probably benign	Het
Abca13	A	T	11: 9,283,310 (GRCm39)	N3244I	probably benign	Het
Adgrf5	A	G	17: 43,748,562 (GRCm39)	T219A	probably damaging	Het
Adgrg5	A	T	8: 95,660,649 (GRCm39)	N92I	probably damaging	Het
Agt	A	C	8: 125,283,694 (GRCm39)	V475G	probably damaging	Het
Akap6	A	G	12: 52,934,061 (GRCm39)	K518E	possibly damaging	Het
Apoh	T	G	11: 108,295,697 (GRCm39)	D133E	probably benign	Het
Axdnd1	T	A	1: 156,220,319 (GRCm39)	M234L	possibly damaging	Het
Cacna1d	A	G	14: 29,804,468 (GRCm39)	I1335T	probably damaging	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cfap206	T	A	4: 34,711,566 (GRCm39)	K444*	probably null	Het
Clasp2	A	G	9: 113,707,832 (GRCm39)	I614M	probably benign	Het
Col6a4	A	T	9: 105,940,275 (GRCm39)	D1218E	possibly damaging	Het
Cplane1	T	C	15: 8,230,753 (GRCm39)	V1010A	possibly damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
D130043K22Rik	C	T	13: 25,067,874 (GRCm39)	T870M	probably damaging	Het
Dagla	C	A	19: 10,225,516 (GRCm39)	A883S	probably benign	Het
Dhx30	A	G	9: 109,926,263 (GRCm39)	V87A	probably damaging	Het
Dtx1	C	A	5: 120,848,249 (GRCm39)	V44L	possibly damaging	Het
Ecm2	T	A	13: 49,683,605 (GRCm39)	S528T	possibly damaging	Het
Eeig2	T	A	3: 108,886,164 (GRCm39)	N356I	probably benign	Het
Egfem1	A	T	3: 29,637,080 (GRCm39)	N172I	probably damaging	Het
Fam13a	T	G	6: 58,912,594 (GRCm39)	R686S	probably damaging	Het
Fam243	A	G	16: 92,118,207 (GRCm39)	L27P	probably damaging	Het
Fmo1	T	A	1: 162,663,828 (GRCm39)	I234L	probably benign	Het
Foxj2	C	T	6: 122,805,331 (GRCm39)	R68W	probably damaging	Het
Foxo6	A	T	4: 120,125,961 (GRCm39)	M278K	probably benign	Het
Fsip2	A	G	2: 82,820,775 (GRCm39)	S5503G	probably benign	Het
Gdf5	C	G	2: 155,784,010 (GRCm39)	R100G	probably benign	Het
Il1b	A	T	2: 129,209,242 (GRCm39)	D129E	probably damaging	Het
Klhl29	A	G	12: 5,141,350 (GRCm39)	S545P	probably damaging	Het
Krt87	G	T	15: 101,385,708 (GRCm39)	R296S	possibly damaging	Het
Llgl1	T	G	11: 60,599,638 (GRCm39)	S509R	probably damaging	Het
Lmod1	A	T	1: 135,291,702 (GRCm39)	K186*	probably null	Het
Lrpprc	C	T	17: 85,034,077 (GRCm39)	A973T	probably damaging	Het
Marco	T	C	1: 120,422,514 (GRCm39)	H49R	possibly damaging	Het
Mylk4	T	C	13: 32,906,001 (GRCm39)	N394S	probably null	Het
Myo5a	A	G	9: 75,030,322 (GRCm39)	Y147C	probably damaging	Het
Myo5a	T	C	9: 75,059,179 (GRCm39)	V469A	probably damaging	Het
Myot	A	G	18: 44,470,283 (GRCm39)	T87A	probably benign	Het
Nav2	A	G	7: 49,247,312 (GRCm39)	H2154R	probably damaging	Het
Nek10	A	G	14: 14,999,112 (GRCm38)	E1037G	possibly damaging	Het
Or1j13	T	C	2: 36,369,986 (GRCm39)	D52G	probably damaging	Het
Or52e4	A	G	7: 104,705,878 (GRCm39)	T142A	probably benign	Het
Or5k17	A	G	16: 58,746,286 (GRCm39)	V216A	probably benign	Het
Pitrm1	G	T	13: 6,625,128 (GRCm39)	V869F	probably benign	Het
Plekhm3	CCTGCTGCTGCTGCTGCTGCTGCTGC	CCTGCTGCTGCTGCTGCTGCTGC	1: 64,976,940 (GRCm39)		probably benign	Het
Prdx1	T	G	4: 116,550,997 (GRCm39)	I156S	probably benign	Het
Rbks	T	A	5: 31,823,096 (GRCm39)	T107S	probably damaging	Het
Ryr3	G	A	2: 112,506,219 (GRCm39)	R3468W	probably damaging	Het
Scn1a	C	T	2: 66,103,813 (GRCm39)	D1805N	probably damaging	Het
Sirpa	T	C	2: 129,457,568 (GRCm39)	V214A	probably benign	Het
Slc35c1	T	C	2: 92,289,225 (GRCm39)	N94D	probably benign	Het
Sorbs2	A	T	8: 46,248,407 (GRCm39)	K553*	probably null	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Thg1l	A	G	11: 45,842,392 (GRCm39)	V142A	probably benign	Het
Tiparp	T	A	3: 65,460,551 (GRCm39)	Y513*	probably null	Het
Trim39	T	A	17: 36,580,056 (GRCm39)		probably benign	Het
Trrap	G	A	5: 144,780,179 (GRCm39)		probably null	Het
Tulp3	C	T	6: 128,304,601 (GRCm39)	V218I	probably benign	Het
Vmn1r38	T	A	6: 66,753,955 (GRCm39)	I54F	probably benign	Het
Vmn2r23	T	A	6: 123,719,147 (GRCm39)	Y833*	probably null	Het
Zfp810	A	T	9: 22,190,534 (GRCm39)	S125T	probably benign	Het

Other mutations in Tmc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00763:Tmc6	APN	11	117,669,872 (GRCm39)	missense	probably damaging	0.99
IGL02637:Tmc6	APN	11	117,658,416 (GRCm39)	missense	possibly damaging	0.94
PIT4520001:Tmc6	UTSW	11	117,663,556 (GRCm39)	missense	possibly damaging	0.55
R0140:Tmc6	UTSW	11	117,657,077 (GRCm39)	unclassified	probably benign
R0149:Tmc6	UTSW	11	117,660,274 (GRCm39)	missense	probably damaging	1.00
R0437:Tmc6	UTSW	11	117,669,087 (GRCm39)	missense	possibly damaging	0.88
R1566:Tmc6	UTSW	11	117,660,262 (GRCm39)	missense	probably damaging	0.99
R2011:Tmc6	UTSW	11	117,660,232 (GRCm39)	missense	probably damaging	1.00
R2012:Tmc6	UTSW	11	117,660,232 (GRCm39)	missense	probably damaging	1.00
R2169:Tmc6	UTSW	11	117,659,932 (GRCm39)	missense	probably damaging	1.00
R3853:Tmc6	UTSW	11	117,663,884 (GRCm39)	nonsense	probably null
R4049:Tmc6	UTSW	11	117,669,087 (GRCm39)	missense	possibly damaging	0.88
R4655:Tmc6	UTSW	11	117,663,868 (GRCm39)	missense	possibly damaging	0.62
R4708:Tmc6	UTSW	11	117,659,774 (GRCm39)	missense	probably benign	0.00
R5001:Tmc6	UTSW	11	117,661,610 (GRCm39)	missense	probably benign	0.28
R5115:Tmc6	UTSW	11	117,666,014 (GRCm39)	missense	probably damaging	0.98
R5551:Tmc6	UTSW	11	117,660,271 (GRCm39)	missense	probably damaging	1.00
R5667:Tmc6	UTSW	11	117,666,441 (GRCm39)	missense	possibly damaging	0.87
R5671:Tmc6	UTSW	11	117,666,441 (GRCm39)	missense	possibly damaging	0.87
R5763:Tmc6	UTSW	11	117,660,259 (GRCm39)	missense	possibly damaging	0.90
R6137:Tmc6	UTSW	11	117,667,154 (GRCm39)	missense	probably damaging	1.00
R6354:Tmc6	UTSW	11	117,665,062 (GRCm39)	missense	probably benign	0.32
R6418:Tmc6	UTSW	11	117,661,326 (GRCm39)	missense	probably damaging	0.99
R6868:Tmc6	UTSW	11	117,665,143 (GRCm39)	missense	probably benign	0.01
R7006:Tmc6	UTSW	11	117,665,083 (GRCm39)	missense	probably damaging	0.96
R7208:Tmc6	UTSW	11	117,667,151 (GRCm39)	missense	probably benign	0.41
R7210:Tmc6	UTSW	11	117,666,670 (GRCm39)	missense	possibly damaging	0.59
R7633:Tmc6	UTSW	11	117,660,046 (GRCm39)	missense	probably benign
R8802:Tmc6	UTSW	11	117,665,901 (GRCm39)	missense	possibly damaging	0.81
R8959:Tmc6	UTSW	11	117,661,293 (GRCm39)	critical splice donor site	probably null
R9002:Tmc6	UTSW	11	117,661,308 (GRCm39)	missense	probably damaging	1.00
R9621:Tmc6	UTSW	11	117,669,995 (GRCm39)	missense	probably benign	0.00
Z1177:Tmc6	UTSW	11	117,669,573 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCCTTGTCTAAGAACCTTTCACAGG -3'
(R):5'- ACTCTGGAGCGACATGACTC -3'

Sequencing Primer
(F):5'- TGGTACCCAGAGCCCAGAG -3'
(R):5'- ACATGACTCCCCTGTGTTGGAG -3'

Posted On

2014-12-04