Mutagenetix > Incidental Mutation

Incidental Mutation 'R5763:Tmc6'

446137

Institutional Source

Beutler Lab

Gene Symbol

Tmc6

Ensembl Gene

ENSMUSG00000025572

Gene Name

transmembrane channel-like gene family 6

Synonyms

EVER1, D11Ertd204e

MMRRC Submission

043364-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5763 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117656811-117673019 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 117660259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 660 (F660L)

Ref Sequence

ENSEMBL: ENSMUSP00000026659 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026659
AA Change: F660L

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000026659
Gene: ENSMUSG00000025572
AA Change: F660L

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

Meta Mutation Damage Score

0.2750

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

97% (70/72)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	G	1: 130,670,768 (GRCm39)	H330R	possibly damaging	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Actl6b	T	A	5: 137,565,063 (GRCm39)	L314Q	possibly damaging	Het
Adam22	A	T	5: 8,184,544 (GRCm39)	C483S	probably damaging	Het
Adamts7	T	A	9: 90,070,462 (GRCm39)	L601H	probably damaging	Het
Agl	A	T	3: 116,547,009 (GRCm39)	D1280E	probably damaging	Het
Ankrd60	TGGCCACGCGG	TGG	2: 173,419,882 (GRCm39)		probably null	Het
Astn2	T	A	4: 65,647,568 (GRCm39)	M757L	probably benign	Het
Atr	A	G	9: 95,827,176 (GRCm39)	M2407V	probably benign	Het
Brca2	T	C	5: 150,471,471 (GRCm39)	F2283L	possibly damaging	Het
Brwd1	A	T	16: 95,835,043 (GRCm39)	Y940*	probably null	Het
Camk2g	A	T	14: 20,789,415 (GRCm39)	N218K	probably damaging	Het
Ces2a	C	T	8: 105,462,756 (GRCm39)	P115L	probably benign	Het
Col11a1	T	C	3: 113,888,245 (GRCm39)		probably benign	Het
Col1a2	T	A	6: 4,515,682 (GRCm39)	D150E	unknown	Het
Crybg3	A	G	16: 59,374,973 (GRCm39)	S2094P	possibly damaging	Het
Cttnbp2	T	C	6: 18,414,298 (GRCm39)	N916D	probably benign	Het
Ddx24	A	G	12: 103,383,673 (GRCm39)	F593L	probably damaging	Het
Dhx16	G	A	17: 36,192,580 (GRCm39)	E171K	possibly damaging	Het
Dnah5	T	C	15: 28,311,298 (GRCm39)	I1759T	probably damaging	Het
Dnah9	C	A	11: 65,846,065 (GRCm39)	S2991I	probably damaging	Het
Entpd7	G	T	19: 43,692,705 (GRCm39)	V87L	probably damaging	Het
Fam221a	T	G	6: 49,355,518 (GRCm39)	L207V	probably damaging	Het
Foxm1	T	A	6: 128,343,071 (GRCm39)	I135N	probably benign	Het
Gabpa	C	A	16: 84,657,297 (GRCm39)	Q391K	possibly damaging	Het
Gipr	T	A	7: 18,897,475 (GRCm39)	H111L	probably damaging	Het
Gmip	A	G	8: 70,270,501 (GRCm39)	D737G	probably damaging	Het
Herc6	T	A	6: 57,639,872 (GRCm39)	N995K	probably damaging	Het
Ldha	G	A	7: 46,497,213 (GRCm39)		probably benign	Het
Lrrc37	G	A	11: 103,504,469 (GRCm39)	P324S	probably damaging	Het
Masp1	T	C	16: 23,314,997 (GRCm39)	E88G	probably damaging	Het
Mical2	G	A	7: 111,973,861 (GRCm39)		probably null	Het
Mill1	T	A	7: 17,979,587 (GRCm39)	V18E	probably benign	Het
Mrgpra3	A	T	7: 47,239,355 (GRCm39)	C190*	probably null	Het
Nog	C	T	11: 89,192,291 (GRCm39)	V186M	probably damaging	Het
Nrxn2	T	C	19: 6,581,369 (GRCm39)	F392L	probably benign	Het
Or11h7	T	C	14: 50,891,525 (GRCm39)	I277T	possibly damaging	Het
Or12j3	T	A	7: 139,953,568 (GRCm39)		probably null	Het
Or1e33	T	A	11: 73,738,693 (GRCm39)	Q86L	probably benign	Het
Or4a79	T	A	2: 89,552,372 (GRCm39)	M28L	probably benign	Het
Or7c74	T	C	2: 37,161,025 (GRCm39)		noncoding transcript	Het
Phyhd1	T	A	2: 30,169,983 (GRCm39)	D158E	probably damaging	Het
Pik3r4	G	T	9: 105,546,974 (GRCm39)	K917N	probably benign	Het
Pnma1	A	G	12: 84,194,124 (GRCm39)	V193A	possibly damaging	Het
Podxl2	T	C	6: 88,826,805 (GRCm39)	E167G	probably damaging	Het
Prss50	A	T	9: 110,691,517 (GRCm39)	K82*	probably null	Het
Qsox1	A	G	1: 155,655,625 (GRCm39)	S513P	probably benign	Het
Rheb	A	G	5: 25,012,785 (GRCm39)	V98A	probably benign	Het
Rhoj	A	G	12: 75,438,606 (GRCm39)	I131V	probably benign	Het
Rsph4a	A	T	10: 33,781,684 (GRCm39)	D178V	probably damaging	Het
Setd2	T	G	9: 110,385,343 (GRCm39)		probably null	Het
Siglecf	A	T	7: 43,005,744 (GRCm39)	K434*	probably null	Het
Slc14a1	T	C	18: 78,159,629 (GRCm39)	Y88C	probably benign	Het
Snx15	T	C	19: 6,172,140 (GRCm39)	E89G	probably damaging	Het
Son	C	T	16: 91,454,378 (GRCm39)	R1042C	probably damaging	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Suz12	C	A	11: 79,916,134 (GRCm39)	Y457*	probably null	Het
Tet1	T	A	10: 62,675,847 (GRCm39)	N743I	probably damaging	Het
Tnpo1	A	C	13: 98,996,445 (GRCm39)	I452S	possibly damaging	Het
Trav4-3	G	T	14: 53,836,844 (GRCm39)	G103V	probably damaging	Het
Ubap2	T	C	4: 41,195,809 (GRCm39)	K994E	probably damaging	Het
Vmn2r14	T	C	5: 109,363,724 (GRCm39)	T731A	possibly damaging	Het
Vmn2r52	T	A	7: 9,905,231 (GRCm39)	I203L	probably benign	Het
Zfp663	G	T	2: 165,200,355 (GRCm39)	S75*	probably null	Het
Zik1	G	T	7: 10,226,293 (GRCm39)	H25N	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
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
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'- ACCGTGCCTGCTTCATACATG -3'
(R):5'- TACTCTTATAGGACCAGCGTGG -3'

Sequencing Primer
(F):5'- CATACATGGTGTTCAGAGTCCG -3'
(R):5'- GGGGGATGGAGTTTGGC -3'

Posted On

2016-11-21