Mutagenetix > Incidental Mutation

Incidental Mutation 'R9002:Tmc6'

685047

Institutional Source

Beutler Lab

Gene Symbol

Tmc6

Ensembl Gene

ENSMUSG00000025572

Gene Name

transmembrane channel-like gene family 6

Synonyms

EVER1, D11Ertd204e

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9002 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

117656811-117673019 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 117661308 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 624 (F624Y)

Ref Sequence

ENSEMBL: ENSMUSP00000026659 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026659] [ENSMUST00000103025] [ENSMUST00000131606]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000026659
AA Change: F624Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026659
Gene: ENSMUSG00000025572
AA Change: F624Y

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: 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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,241,926 (GRCm39)	M1263K	possibly damaging	Het
Abca8b	C	T	11: 109,843,456 (GRCm39)	D985N	probably benign	Het
Ak5	A	T	3: 152,359,091 (GRCm39)	M207K	probably damaging	Het
Akt1	T	C	12: 112,626,048 (GRCm39)	I75V	probably benign	Het
Ank	T	A	15: 27,544,413 (GRCm39)	L58*	probably null	Het
Ap1g1	A	C	8: 110,581,738 (GRCm39)	T666P	probably benign	Het
Ap3b2	A	T	7: 81,117,192 (GRCm39)	S615T	probably benign	Het
Ash1l	G	T	3: 88,888,715 (GRCm39)	R198L	probably benign	Het
Axl	A	T	7: 25,478,103 (GRCm39)	C199S	probably damaging	Het
C1d	T	C	11: 17,212,787 (GRCm39)	L44S	probably damaging	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Col4a4	A	G	1: 82,449,032 (GRCm39)	L1186P	probably benign	Het
Ctdsp2	T	A	10: 126,832,061 (GRCm39)	I223N	probably damaging	Het
Efcab3	A	T	11: 104,920,822 (GRCm39)	D4671V	probably damaging	Het
Eml1	T	A	12: 108,504,438 (GRCm39)	I799N	probably damaging	Het
Fbxw18	G	A	9: 109,519,660 (GRCm39)	T282I	probably damaging	Het
Fmo2	A	T	1: 162,705,647 (GRCm39)	C397*	probably null	Het
Gbp10	C	A	5: 105,369,847 (GRCm39)	V262L	probably benign	Het
Gm45871	A	T	18: 90,609,968 (GRCm39)	H402L	probably damaging	Het
Has1	T	C	17: 18,063,912 (GRCm39)	S576G	unknown	Het
Hat1	C	T	2: 71,271,647 (GRCm39)	R407W	probably damaging	Het
Hivep2	G	T	10: 14,008,157 (GRCm39)	R1585L	probably benign	Het
Ifi211	A	G	1: 173,733,894 (GRCm39)	V89A	possibly damaging	Het
Igkv4-59	T	C	6: 69,415,475 (GRCm39)	T27A	possibly damaging	Het
Irf9	T	A	14: 55,845,140 (GRCm39)	N333K	possibly damaging	Het
Jakmip2	C	T	18: 43,715,323 (GRCm39)	V68I	probably benign	Het
Kif1b	T	G	4: 149,275,712 (GRCm39)	I1400L	probably damaging	Het
Kif2b	C	T	11: 91,467,053 (GRCm39)	C410Y	probably benign	Het
Klk1b16	T	C	7: 43,790,189 (GRCm39)	L153P	possibly damaging	Het
Kndc1	C	T	7: 139,507,708 (GRCm39)	S1222F	possibly damaging	Het
Lama5	A	G	2: 179,838,311 (GRCm39)	C855R	probably damaging	Het
Mast3	A	G	8: 71,233,904 (GRCm39)	L947P	probably damaging	Het
Mblac2	C	A	13: 81,860,072 (GRCm39)	A142E	possibly damaging	Het
Mppe1	A	G	18: 67,358,925 (GRCm39)	S348P	possibly damaging	Het
Mroh8	A	C	2: 157,058,939 (GRCm39)	V909G	probably damaging	Het
Mthfd1	C	T	12: 76,350,754 (GRCm39)	T712M	probably benign	Het
Nek10	T	C	14: 14,980,590 (GRCm38)	L982P	probably damaging	Het
Nlrp4b	C	T	7: 10,448,886 (GRCm39)	T363I	probably damaging	Het
Nol10	A	G	12: 17,408,134 (GRCm39)	E120G	probably damaging	Het
Olfml1	T	C	7: 107,189,423 (GRCm39)	S163P	probably damaging	Het
Or2n1c	A	T	17: 38,519,555 (GRCm39)	N140Y	probably benign	Het
Or51a7	A	T	7: 102,614,618 (GRCm39)	I104F	probably damaging	Het
Or6ae1	T	C	7: 139,742,198 (GRCm39)	I222V	probably damaging	Het
Or8b43	T	A	9: 38,360,171 (GRCm39)	M1K	probably null	Het
Or8i2	T	C	2: 86,852,241 (GRCm39)	T216A	probably benign	Het
Pde6a	T	A	18: 61,419,060 (GRCm39)	L812Q	probably damaging	Het
Pdxp	T	A	15: 78,802,459 (GRCm39)	M231K	probably damaging	Het
Pi4ka	A	G	16: 17,117,317 (GRCm39)	L1368P		Het
Ppie	T	C	4: 123,024,344 (GRCm39)	N171S	possibly damaging	Het
Rimbp2	T	C	5: 128,865,356 (GRCm39)	H657R	probably benign	Het
Sarnp	T	A	10: 128,657,842 (GRCm39)		probably null	Het
Serpinb9c	T	C	13: 33,334,329 (GRCm39)	T266A	probably damaging	Het
Srgap3	T	A	6: 112,757,854 (GRCm39)	I218F	possibly damaging	Het
Susd1	C	A	4: 59,324,882 (GRCm39)	W717L	probably benign	Het
Tgfbi	A	G	13: 56,771,402 (GRCm39)	Y88C	probably damaging	Het
Tnni2	A	G	7: 141,998,013 (GRCm39)	E172G	probably damaging	Het
Traf3ip1	T	C	1: 91,433,178 (GRCm39)	S316P	probably benign	Het
Tshr	C	A	12: 91,504,548 (GRCm39)	N495K	possibly damaging	Het
Ulk3	C	A	9: 57,500,542 (GRCm39)	A317E	probably damaging	Het
Usp24	T	C	4: 106,275,412 (GRCm39)	V2229A	possibly damaging	Het
Usp32	G	A	11: 84,944,777 (GRCm39)	R304C	probably damaging	Het
Usp40	C	T	1: 87,935,063 (GRCm39)	G28D	probably benign	Het
Vmn1r41	A	G	6: 89,724,109 (GRCm39)	K217E	possibly damaging	Het
Vmn2r73	T	A	7: 85,507,284 (GRCm39)	K676M	probably benign	Het
Vnn1	A	G	10: 23,775,349 (GRCm39)	T200A	possibly damaging	Het
Zc3hav1	A	G	6: 38,302,176 (GRCm39)	L698P	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
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
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'- CCACTCTGCTACCAAGTTAGC -3'
(R):5'- ACAGACACTGACCTGGTGAG -3'

Sequencing Primer
(F):5'- ACCAAGTTAGCATCTTTTTCAGGGG -3'
(R):5'- ACCTGGTGAGGGTCTCCC -3'

Posted On

2021-10-11