Mutagenetix > Incidental Mutation

Incidental Mutation 'R0140:Tmc6'

22272

Institutional Source

Beutler Lab

Gene Symbol

Tmc6

Ensembl Gene

ENSMUSG00000025572

Gene Name

transmembrane channel-like gene family 6

Synonyms

EVER1, D11Ertd204e

MMRRC Submission

038425-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0140 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

117656811-117673019 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 117657077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026658] [ENSMUST00000026659] [ENSMUST00000106344] [ENSMUST00000131606] [ENSMUST00000138299]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000026658

SMART Domains

Protein: ENSMUSP00000026658
Gene: ENSMUSG00000025571

Domain	Start	End	E-Value	Type
coiled coil region	1	32	N/A	INTRINSIC
low complexity region	37	58	N/A	INTRINSIC
low complexity region	110	132	N/A	INTRINSIC
low complexity region	248	257	N/A	INTRINSIC
low complexity region	298	318	N/A	INTRINSIC
low complexity region	394	408	N/A	INTRINSIC
low complexity region	440	457	N/A	INTRINSIC
internal_repeat_1	472	573	2.14e-5	PROSPERO
low complexity region	594	614	N/A	INTRINSIC
low complexity region	621	632	N/A	INTRINSIC
internal_repeat_2	639	704	5.49e-5	PROSPERO
internal_repeat_1	799	902	2.14e-5	PROSPERO
low complexity region	964	981	N/A	INTRINSIC
internal_repeat_2	991	1051	5.49e-5	PROSPERO
low complexity region	1063	1079	N/A	INTRINSIC
low complexity region	1111	1125	N/A	INTRINSIC
UBA	1145	1182	3.68e-4	SMART
Pfam:M_domain	1232	1459	6.8e-77	PFAM
Pfam:TNRC6-PABC_bdg	1468	1646	4.1e-75	PFAM
Pfam:TNRC6-PABC_bdg	1643	1722	3.7e-33	PFAM
RRM	1725	1792	1.81e-2	SMART
low complexity region	1813	1823	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000026659
AA Change: S809P

SMART Domains

Protein: ENSMUSP00000026659
Gene: ENSMUSG00000025572
AA Change: S809P

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: ENSMUST00000106344

SMART Domains

Protein: ENSMUSP00000101951
Gene: ENSMUSG00000025571

Domain	Start	End	E-Value	Type
coiled coil region	1	32	N/A	INTRINSIC
low complexity region	37	58	N/A	INTRINSIC
low complexity region	110	132	N/A	INTRINSIC
low complexity region	248	257	N/A	INTRINSIC
low complexity region	298	318	N/A	INTRINSIC
low complexity region	394	408	N/A	INTRINSIC
low complexity region	440	457	N/A	INTRINSIC
internal_repeat_1	472	573	2.14e-5	PROSPERO
low complexity region	594	614	N/A	INTRINSIC
low complexity region	621	632	N/A	INTRINSIC
internal_repeat_2	639	704	5.49e-5	PROSPERO
internal_repeat_1	799	902	2.14e-5	PROSPERO
low complexity region	964	981	N/A	INTRINSIC
internal_repeat_2	991	1051	5.49e-5	PROSPERO
low complexity region	1063	1079	N/A	INTRINSIC
low complexity region	1111	1125	N/A	INTRINSIC
UBA	1145	1182	3.68e-4	SMART
Pfam:M_domain	1232	1459	6.8e-77	PFAM
Pfam:TNRC6-PABC_bdg	1468	1646	4.1e-75	PFAM
Pfam:TNRC6-PABC_bdg	1643	1722	3.7e-33	PFAM
RRM	1725	1792	1.81e-2	SMART
low complexity region	1813	1823	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: ENSMUST00000138299

SMART Domains

Protein: ENSMUSP00000115221
Gene: ENSMUSG00000025571

Domain	Start	End	E-Value	Type
low complexity region	88	97	N/A	INTRINSIC
low complexity region	138	158	N/A	INTRINSIC
low complexity region	234	248	N/A	INTRINSIC
low complexity region	280	297	N/A	INTRINSIC
internal_repeat_1	312	413	9.45e-5	PROSPERO
low complexity region	434	454	N/A	INTRINSIC
low complexity region	461	472	N/A	INTRINSIC
internal_repeat_1	639	742	9.45e-5	PROSPERO
low complexity region	804	821	N/A	INTRINSIC
low complexity region	903	919	N/A	INTRINSIC
low complexity region	951	965	N/A	INTRINSIC
UBA	985	1022	3.68e-4	SMART
Pfam:M_domain	1036	1293	1.7e-53	PFAM
low complexity region	1397	1406	N/A	INTRINSIC
PDB:3KTP\|B	1422	1443	7e-7	PDB
low complexity region	1507	1518	N/A	INTRINSIC
low complexity region	1531	1552	N/A	INTRINSIC
RRM	1557	1624	1.81e-2	SMART
low complexity region	1645	1655	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141115

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

98% (79/81)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
9330161L09Rik	T	C	12: 103,373,587 (GRCm39)		probably benign	Het
Abca2	T	G	2: 25,328,097 (GRCm39)		probably null	Het
Adgrf3	T	C	5: 30,401,379 (GRCm39)	K13R	probably benign	Het
Arhgap15	C	A	2: 44,212,779 (GRCm39)	F416L	probably damaging	Het
Arhgef26	C	G	3: 62,355,666 (GRCm39)	T746R	probably benign	Het
Aspm	C	T	1: 139,408,379 (GRCm39)	T2422I	probably benign	Het
Atp4a	C	G	7: 30,419,526 (GRCm39)	R659G	probably benign	Het
AY358078	T	A	14: 52,063,399 (GRCm39)	D348E	probably benign	Het
Blnk	A	T	19: 40,928,668 (GRCm39)	S285T	probably damaging	Het
Calr3	C	T	8: 73,188,732 (GRCm39)		probably benign	Het
Camsap2	A	T	1: 136,208,120 (GRCm39)	V1124D	probably benign	Het
Ccdc40	G	A	11: 119,155,125 (GRCm39)	G1122S	probably benign	Het
Ccdc69	C	A	11: 54,941,325 (GRCm39)	C196F	possibly damaging	Het
Cdhr3	T	G	12: 33,130,412 (GRCm39)	N141T	probably benign	Het
Cdk4	T	C	10: 126,900,214 (GRCm39)	V37A	probably damaging	Het
Celsr2	C	T	3: 108,305,249 (GRCm39)	R2110K	probably benign	Het
Clcn7	A	G	17: 25,372,728 (GRCm39)	Y437C	probably damaging	Het
Col6a6	A	G	9: 105,579,474 (GRCm39)	F1917S	probably damaging	Het
Cps1	T	G	1: 67,219,275 (GRCm39)	S872A	probably benign	Het
Crebbp	G	T	16: 3,935,363 (GRCm39)	T842N	probably damaging	Het
Dennd2d	G	A	3: 106,399,799 (GRCm39)	V234I	probably benign	Het
Fam227b	T	C	2: 125,966,523 (GRCm39)	M130V	possibly damaging	Het
Fbxw24	G	T	9: 109,434,482 (GRCm39)	L373I	possibly damaging	Het
Fubp3	T	C	2: 31,498,196 (GRCm39)	Y359H	probably damaging	Het
Gm19684	T	C	17: 36,438,319 (GRCm39)		probably benign	Het
Hrnr	C	T	3: 93,238,800 (GRCm39)	Q3013*	probably null	Het
Il12rb1	T	C	8: 71,272,415 (GRCm39)		probably benign	Het
Lepr	A	T	4: 101,625,264 (GRCm39)	D473V	probably damaging	Het
Myof	A	T	19: 37,940,004 (GRCm39)	Y820*	probably null	Het
Nfil3	G	A	13: 53,121,681 (GRCm39)	Q408*	probably null	Het
Nolc1	G	A	19: 46,069,817 (GRCm39)		probably benign	Het
Npbwr1	A	C	1: 5,986,840 (GRCm39)	Y225D	probably damaging	Het
Nrip3	T	C	7: 109,361,022 (GRCm39)		probably benign	Het
Ntrk1	A	C	3: 87,685,875 (GRCm39)	L749R	probably damaging	Het
Or10ag53	A	G	2: 87,082,969 (GRCm39)	I229M	probably damaging	Het
Or2b11	A	G	11: 59,461,804 (GRCm39)	L254P	probably damaging	Het
Or4c126	T	A	2: 89,824,463 (GRCm39)	V242D	probably damaging	Het
Or52a24	A	G	7: 103,381,349 (GRCm39)	D72G	probably damaging	Het
Or6c211	G	T	10: 129,505,557 (GRCm39)	T277N	probably damaging	Het
Paox	A	T	7: 139,713,971 (GRCm39)	T244S	probably damaging	Het
Pcdhb9	T	A	18: 37,536,014 (GRCm39)	D669E	possibly damaging	Het
Pggt1b	A	G	18: 46,391,150 (GRCm39)		probably null	Het
Phkg1	T	A	5: 129,893,449 (GRCm39)	I334F	probably benign	Het
Phtf1	A	T	3: 103,894,876 (GRCm39)	R208W	probably null	Het
Pnliprp2	A	T	19: 58,754,795 (GRCm39)	I280F	probably benign	Het
Pnma8a	A	G	7: 16,694,147 (GRCm39)	M1V	probably null	Het
Prcp	A	G	7: 92,577,819 (GRCm39)	T328A	probably damaging	Het
Pxdn	A	G	12: 30,032,753 (GRCm39)	E179G	probably benign	Het
Racgap1	A	T	15: 99,521,532 (GRCm39)	N541K	probably benign	Het
Rnf103	T	A	6: 71,486,315 (GRCm39)	F315L	possibly damaging	Het
Septin2	A	G	1: 93,429,361 (GRCm39)	R237G	probably damaging	Het
Setd6	T	A	8: 96,442,737 (GRCm39)	L58Q	probably damaging	Het
Sipa1l1	G	A	12: 82,442,974 (GRCm39)	V755I	probably damaging	Het
Slc16a12	G	T	19: 34,650,104 (GRCm39)		probably benign	Het
Slk	G	A	19: 47,610,774 (GRCm39)	D815N	probably damaging	Het
Stx1a	T	C	5: 135,074,439 (GRCm39)		probably benign	Het
Tbc1d15	T	A	10: 115,056,124 (GRCm39)	I283F	probably damaging	Het
Tenm4	T	C	7: 96,545,259 (GRCm39)	I2425T	possibly damaging	Het
Tle1	G	A	4: 72,038,422 (GRCm39)	H702Y	probably damaging	Het
Tmem268	G	A	4: 63,496,096 (GRCm39)	R179H	possibly damaging	Het
Tmem9	A	G	1: 135,961,900 (GRCm39)	K165R	probably damaging	Het
Trpm6	A	G	19: 18,796,558 (GRCm39)		probably null	Het
Tufm	C	T	7: 126,089,003 (GRCm39)	P88S	probably damaging	Het
Ubqln1	A	G	13: 58,341,103 (GRCm39)	I216T	probably damaging	Het
Urad	T	G	5: 147,259,141 (GRCm39)	M1L	probably benign	Het
Utp6	A	G	11: 79,847,551 (GRCm39)		probably benign	Het
Vav2	C	T	2: 27,163,688 (GRCm39)		probably benign	Het
Vmn2r55	G	T	7: 12,402,104 (GRCm39)	Q395K	possibly damaging	Het
Wwox	T	G	8: 115,433,027 (GRCm39)	V231G	probably damaging	Het
Zfp646	T	A	7: 127,482,678 (GRCm39)	N1618K	probably benign	Het
Zzef1	G	A	11: 72,790,377 (GRCm39)	M2110I	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
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
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'- ATGGAAAGCCCAGTGAGTCCCAAG -3'
(R):5'- AGCCACCCTTCATGCAGGTTAGAG -3'

Sequencing Primer
(F):5'- gaagggagaagcaggtgg -3'
(R):5'- AGGTGCTTTCATGTTGTTATGTTG -3'

Posted On

2013-04-16