Mutagenetix > Incidental Mutation

Incidental Mutation 'R1566:Tmc6'

175285

Institutional Source

Beutler Lab

Gene Symbol

Tmc6

Ensembl Gene

ENSMUSG00000025572

Gene Name

transmembrane channel-like gene family 6

Synonyms

EVER1, D11Ertd204e

MMRRC Submission

039605-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1566 (G1)

Quality Score

128

Status

Not validated

Chromosome

Chromosomal Location

117656811-117673019 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 117660262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 659 (S659P)

Ref Sequence

ENSEMBL: ENSMUSP00000026659 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000026659
AA Change: S659P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000026659
Gene: ENSMUSG00000025572
AA Change: S659P

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.9%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	T	A	11: 109,679,632 (GRCm39)	I247F	probably benign	Het
Afap1l1	T	C	18: 61,888,714 (GRCm39)	N119S	probably benign	Het
Ap2a1	T	C	7: 44,552,904 (GRCm39)	D721G	probably benign	Het
Ap3m2	C	T	8: 23,293,967 (GRCm39)	V28M	probably damaging	Het
Arhgef7	A	G	8: 11,832,620 (GRCm39)	T32A	possibly damaging	Het
Avl9	C	T	6: 56,713,467 (GRCm39)	R242*	probably null	Het
Bsn	G	A	9: 108,003,184 (GRCm39)	T407I	probably benign	Het
Capn3	A	T	2: 120,333,474 (GRCm39)	R627S	possibly damaging	Het
Car13	G	A	3: 14,715,758 (GRCm39)	R92Q	probably benign	Het
Clcn1	T	C	6: 42,268,374 (GRCm39)	I149T	possibly damaging	Het
Col1a2	G	T	6: 4,523,613 (GRCm39)	G514V	probably damaging	Het
Ctsw	C	A	19: 5,515,445 (GRCm39)	C347F	probably damaging	Het
Dna2	C	T	10: 62,784,966 (GRCm39)	R28W	probably benign	Het
Eif1ad8	A	T	12: 87,564,001 (GRCm39)	H112L	probably benign	Het
Eml1	T	A	12: 108,438,151 (GRCm39)	V97D	probably damaging	Het
Epb41l1	A	G	2: 156,363,879 (GRCm39)	E796G	probably benign	Het
Gdnf	A	G	15: 7,863,895 (GRCm39)	K102R	probably benign	Het
Gm1110	T	C	9: 26,792,166 (GRCm39)	E618G	probably damaging	Het
Gmnc	T	C	16: 26,782,689 (GRCm39)	D22G	probably damaging	Het
Greb1	T	C	12: 16,761,829 (GRCm39)	D517G	possibly damaging	Het
Gsta1	A	T	9: 78,149,741 (GRCm39)	K185*	probably null	Het
Ift88	A	G	14: 57,678,468 (GRCm39)	D160G	probably benign	Het
Intu	T	A	3: 40,647,008 (GRCm39)	I627N	probably damaging	Het
Itgav	T	A	2: 83,566,974 (GRCm39)	F101L	probably damaging	Het
Kars1	C	T	8: 112,724,290 (GRCm39)	V475I	probably benign	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Klra7	A	G	6: 130,208,564 (GRCm39)	V6A	probably damaging	Het
Krtap6-2	A	G	16: 89,216,626 (GRCm39)	S114P	unknown	Het
Ldlrad4	T	C	18: 68,383,669 (GRCm39)	S122P	probably benign	Het
Lig4	C	A	8: 10,023,650 (GRCm39)	L43F	probably benign	Het
Mfsd4a	T	C	1: 131,986,917 (GRCm39)	D137G	probably damaging	Het
Mmel1	C	T	4: 154,968,110 (GRCm39)	R149C	probably damaging	Het
Morc2b	T	A	17: 33,355,948 (GRCm39)	H608L	probably benign	Het
Mrgpra6	G	A	7: 46,838,652 (GRCm39)	T182I	probably benign	Het
Nat8l	C	A	5: 34,158,200 (GRCm39)	N203K	probably benign	Het
Nin	A	T	12: 70,101,253 (GRCm39)	V448E	probably damaging	Het
Or10a4	T	G	7: 106,696,759 (GRCm39)	F29C	probably damaging	Het
Or2m12	T	A	16: 19,105,077 (GRCm39)	M139L	possibly damaging	Het
Or5k15	T	A	16: 58,709,903 (GRCm39)	I227F	probably damaging	Het
Or8k21	G	A	2: 86,145,129 (GRCm39)	T167I	probably benign	Het
Pank4	T	C	4: 155,064,978 (GRCm39)	L759P	probably damaging	Het
Pcm1	T	A	8: 41,743,810 (GRCm39)	N1152K	probably damaging	Het
Pitpnm3	A	T	11: 71,949,785 (GRCm39)		probably null	Het
Plekhg3	T	C	12: 76,618,839 (GRCm39)	M497T	possibly damaging	Het
Ppfia3	T	C	7: 44,990,112 (GRCm39)	D1138G	probably damaging	Het
Prl6a1	T	A	13: 27,499,410 (GRCm39)	S59R	possibly damaging	Het
Pth2r	A	G	1: 65,427,697 (GRCm39)	S457G	possibly damaging	Het
Rbm25	T	A	12: 83,721,828 (GRCm39)	N671K	probably damaging	Het
Rbm26	T	A	14: 105,397,980 (GRCm39)	K47N	unknown	Het
Ryr1	T	A	7: 28,791,600 (GRCm39)	I1435F	possibly damaging	Het
Scin	T	A	12: 40,131,673 (GRCm39)	H287L	probably benign	Het
Serpinb9e	T	C	13: 33,437,477 (GRCm39)	L120P	probably damaging	Het
Slc34a1	A	C	13: 55,559,844 (GRCm39)		probably null	Het
Slc39a10	A	G	1: 46,875,245 (GRCm39)	F19S	possibly damaging	Het
Sos1	A	G	17: 80,761,345 (GRCm39)	V117A	probably damaging	Het
Spta1	C	A	1: 174,012,272 (GRCm39)	N359K	probably benign	Het
Sspo	G	A	6: 48,443,804 (GRCm39)		probably null	Het
Stx5a	T	A	19: 8,719,675 (GRCm39)	D13E	probably damaging	Het
Supt16	G	A	14: 52,414,112 (GRCm39)	A489V	probably damaging	Het
Tap1	T	A	17: 34,408,520 (GRCm39)	L253Q	probably benign	Het
Tnfsf14	T	C	17: 57,500,876 (GRCm39)	D65G	probably benign	Het
Ttc28	G	A	5: 111,373,543 (GRCm39)	S962N	probably damaging	Het
Ugt8a	T	C	3: 125,669,207 (GRCm39)	Y299C	probably damaging	Het
Upk1a	A	G	7: 30,309,145 (GRCm39)	V59A	possibly damaging	Het
Usp38	T	C	8: 81,711,432 (GRCm39)	T868A	probably benign	Het
Wdsub1	G	A	2: 59,707,059 (GRCm39)	H58Y	probably damaging	Het
Zc3h7b	T	C	15: 81,653,035 (GRCm39)	S19P	possibly damaging	Het
Zfp385b	A	C	2: 77,246,257 (GRCm39)	F257V	probably benign	Het
Zmym4	A	C	4: 126,804,940 (GRCm39)	I188S	possibly damaging	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
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
R2568:Tmc6	UTSW	11	117,663,646 (GRCm39)	missense	probably benign	0.08
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'- AGTGGTGCAGCCAGGGCAG -3'
(R):5'- GAGTTTGGCGGGCAGGACG -3'

Sequencing Primer
(F):5'- TCATACATGGTGTTCAGAGTCC -3'
(R):5'- CAGGACGTGGTGGCTTTG -3'

Posted On

2014-04-24