Mutagenetix > Incidental Mutation

Incidental Mutation 'R0437:Tmc6'

39098

Institutional Source

Beutler Lab

Gene Symbol

Tmc6

Ensembl Gene

ENSMUSG00000025572

Gene Name

transmembrane channel-like gene family 6

Synonyms

EVER1, D11Ertd204e

MMRRC Submission

038638-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0437 (G1)

Quality Score

188

Status

Validated

Chromosome

Chromosomal Location

117656811-117673019 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 117669087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 89 (T89I)

Ref Sequence

ENSEMBL: ENSMUSP00000123264 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026659] [ENSMUST00000050874] [ENSMUST00000103025] [ENSMUST00000106334] [ENSMUST00000117781] [ENSMUST00000119455] [ENSMUST00000127080] [ENSMUST00000143406] [ENSMUST00000131606] [ENSMUST00000136729] [ENSMUST00000127227] [ENSMUST00000152304]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026659
AA Change: T137I

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000026659
Gene: ENSMUSG00000025572
AA Change: T137I

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: ENSMUST00000050874

SMART Domains

Protein: ENSMUSP00000051878
Gene: ENSMUSG00000050106

Domain	Start	End	E-Value	Type
transmembrane domain	120	142	N/A	INTRINSIC
transmembrane domain	203	225	N/A	INTRINSIC
transmembrane domain	301	323	N/A	INTRINSIC
transmembrane domain	376	398	N/A	INTRINSIC
Pfam:TMC	422	532	3.1e-42	PFAM
transmembrane domain	536	558	N/A	INTRINSIC
transmembrane domain	597	619	N/A	INTRINSIC
low complexity region	650	666	N/A	INTRINSIC
low complexity region	673	686	N/A	INTRINSIC
low complexity region	689	712	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103025
AA Change: T137I

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099314
Gene: ENSMUSG00000025572
AA Change: T137I

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: ENSMUST00000106334

SMART Domains

Protein: ENSMUSP00000101941
Gene: ENSMUSG00000050106

Domain	Start	End	E-Value	Type
transmembrane domain	120	142	N/A	INTRINSIC
transmembrane domain	204	226	N/A	INTRINSIC
transmembrane domain	302	324	N/A	INTRINSIC
transmembrane domain	377	399	N/A	INTRINSIC
Pfam:TMC	423	533	6e-41	PFAM
transmembrane domain	537	559	N/A	INTRINSIC
transmembrane domain	598	620	N/A	INTRINSIC
low complexity region	651	667	N/A	INTRINSIC
low complexity region	674	687	N/A	INTRINSIC
low complexity region	690	713	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117781

SMART Domains

Protein: ENSMUSP00000113570
Gene: ENSMUSG00000050106

Domain	Start	End	E-Value	Type
transmembrane domain	120	142	N/A	INTRINSIC
transmembrane domain	203	225	N/A	INTRINSIC
transmembrane domain	301	323	N/A	INTRINSIC
transmembrane domain	376	398	N/A	INTRINSIC
Pfam:TMC	422	532	1.2e-42	PFAM
transmembrane domain	536	558	N/A	INTRINSIC
transmembrane domain	597	619	N/A	INTRINSIC
low complexity region	650	666	N/A	INTRINSIC
low complexity region	673	686	N/A	INTRINSIC
low complexity region	689	712	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119455

SMART Domains

Protein: ENSMUSP00000113628
Gene: ENSMUSG00000050106

Domain	Start	End	E-Value	Type
transmembrane domain	120	142	N/A	INTRINSIC
transmembrane domain	204	226	N/A	INTRINSIC
transmembrane domain	302	324	N/A	INTRINSIC
transmembrane domain	377	399	N/A	INTRINSIC
Pfam:TMC	423	533	2.5e-42	PFAM
transmembrane domain	537	559	N/A	INTRINSIC
transmembrane domain	598	620	N/A	INTRINSIC
low complexity region	651	667	N/A	INTRINSIC
low complexity region	674	687	N/A	INTRINSIC
low complexity region	690	713	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127080

SMART Domains

Protein: ENSMUSP00000115270
Gene: ENSMUSG00000050106

Domain	Start	End	E-Value	Type
transmembrane domain	120	142	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143406
AA Change: T137I

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000117566
Gene: ENSMUSG00000025572
AA Change: T137I

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

possibly damaging
Transcript: ENSMUST00000131606
AA Change: T89I

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123264
Gene: ENSMUSG00000025572
AA Change: T89I

Domain	Start	End	E-Value	Type
low complexity region	58	68	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136729

SMART Domains

Protein: ENSMUSP00000118068
Gene: ENSMUSG00000025572

Domain	Start	End	E-Value	Type
low complexity region	47	58	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127227

Predicted Effect

probably benign
Transcript: ENSMUST00000152304

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (104/104)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	G	A	13: 119,606,631 (GRCm39)	R291K	probably benign	Het
Abca2	T	C	2: 25,332,857 (GRCm39)	S1519P	probably damaging	Het
Abcb11	G	A	2: 69,087,639 (GRCm39)	A1042V	probably damaging	Het
Abcc10	A	T	17: 46,623,845 (GRCm39)		probably null	Het
Abcc10	G	T	17: 46,623,846 (GRCm39)		probably benign	Het
Alkbh3	A	C	2: 93,811,914 (GRCm39)	L240V	probably damaging	Het
Apol10b	T	C	15: 77,469,608 (GRCm39)	S190G	probably benign	Het
Atp1a3	C	A	7: 24,698,392 (GRCm39)	C135F	probably benign	Het
Atp4a	C	G	7: 30,419,526 (GRCm39)	R659G	probably benign	Het
Bicra	A	G	7: 15,722,687 (GRCm39)	S277P	possibly damaging	Het
Bltp1	A	T	3: 37,043,953 (GRCm39)	H2820L	possibly damaging	Het
Bmp8a	T	C	4: 123,210,690 (GRCm39)	E275G	probably benign	Het
Ccdc102a	T	C	8: 95,640,054 (GRCm39)	E80G	probably damaging	Het
Cdh23	T	C	10: 60,246,576 (GRCm39)	D954G	probably damaging	Het
Chrm4	A	G	2: 91,758,788 (GRCm39)	T399A	possibly damaging	Het
Clcn3	A	G	8: 61,387,571 (GRCm39)	V199A	possibly damaging	Het
Crlf1	T	C	8: 70,952,164 (GRCm39)		probably null	Het
Crx	G	T	7: 15,605,071 (GRCm39)	S57*	probably null	Het
Cstpp1	A	G	2: 91,252,298 (GRCm39)	L21P	probably damaging	Het
Cyp4f16	A	G	17: 32,756,072 (GRCm39)	I34V	possibly damaging	Het
Daxx	T	C	17: 34,132,598 (GRCm39)	V576A	probably benign	Het
Ddx17	C	T	15: 79,421,672 (GRCm39)	R351H	probably damaging	Het
Dhx38	T	C	8: 110,285,261 (GRCm39)		probably benign	Het
Dnd1	T	C	18: 36,897,552 (GRCm39)		probably benign	Het
Dync1i2	A	T	2: 71,058,169 (GRCm39)		probably null	Het
E2f6	T	C	12: 16,866,446 (GRCm39)	S52P	probably benign	Het
Epb41l4a	A	G	18: 34,013,326 (GRCm39)	F116S	probably damaging	Het
Ext1	T	C	15: 52,969,502 (GRCm39)	N362S	probably damaging	Het
Fam227a	C	A	15: 79,528,189 (GRCm39)	K79N	possibly damaging	Het
Fam228a	T	A	12: 4,782,759 (GRCm39)	L111F	probably damaging	Het
Fat2	T	C	11: 55,173,625 (GRCm39)	T2363A	probably benign	Het
Fat3	A	T	9: 15,908,228 (GRCm39)	N2591K	probably damaging	Het
Frem2	A	G	3: 53,560,436 (GRCm39)	M1357T	possibly damaging	Het
Frmd4b	A	T	6: 97,400,424 (GRCm39)	V29D	probably damaging	Het
G930045G22Rik	A	G	6: 50,823,918 (GRCm39)		noncoding transcript	Het
Galnt3	A	G	2: 65,937,573 (GRCm39)	S46P	possibly damaging	Het
Gmeb2	A	G	2: 180,895,766 (GRCm39)	V468A	possibly damaging	Het
Herc2	C	T	7: 55,869,563 (GRCm39)	R4271*	probably null	Het
Il5	C	A	11: 53,614,733 (GRCm39)		probably benign	Het
Ints9	G	A	14: 65,223,818 (GRCm39)		probably benign	Het
Itga10	T	C	3: 96,556,453 (GRCm39)	F196S	probably damaging	Het
Itgb3bp	T	C	4: 99,670,126 (GRCm39)	T138A	probably damaging	Het
Kcnd1	G	A	X: 7,690,922 (GRCm39)	V281M	probably benign	Het
Lcp2	T	C	11: 34,037,229 (GRCm39)	L391P	probably benign	Het
Lrrc66	T	C	5: 73,765,030 (GRCm39)	Y671C	probably benign	Het
Mettl23	T	C	11: 116,740,120 (GRCm39)	V197A	possibly damaging	Het
Mmp15	C	A	8: 96,097,400 (GRCm39)	D456E	probably benign	Het
Mospd4	T	C	18: 46,598,848 (GRCm39)		noncoding transcript	Het
Mov10l1	C	A	15: 88,889,515 (GRCm39)	H484N	probably damaging	Het
Mphosph9	T	C	5: 124,453,631 (GRCm39)	Q197R	probably benign	Het
Ms4a1	T	A	19: 11,233,933 (GRCm39)		probably null	Het
Mybbp1a	T	C	11: 72,339,674 (GRCm39)	V919A	possibly damaging	Het
Mycbpap	A	T	11: 94,404,338 (GRCm39)		probably benign	Het
Naip6	G	A	13: 100,433,432 (GRCm39)	S1135F	possibly damaging	Het
Ndufc2	T	A	7: 97,049,544 (GRCm39)	M50K	probably benign	Het
Npr2	T	C	4: 43,648,082 (GRCm39)	V842A	probably damaging	Het
Ntsr2	G	T	12: 16,703,696 (GRCm39)	G66W	probably damaging	Het
Obscn	T	C	11: 58,885,914 (GRCm39)		probably benign	Het
Optn	C	T	2: 5,028,926 (GRCm39)	G526R	probably damaging	Het
Or4c11	T	A	2: 88,695,229 (GRCm39)	N93K	probably benign	Het
Or4c114	T	A	2: 88,904,956 (GRCm39)	I160F	probably benign	Het
Or6c33	T	C	10: 129,853,965 (GRCm39)	V245A	probably damaging	Het
Or6k14	G	A	1: 173,927,965 (GRCm39)	G314R	probably benign	Het
Otud4	T	A	8: 80,396,626 (GRCm39)	H628Q	probably benign	Het
Padi6	T	C	4: 140,456,240 (GRCm39)	T585A	probably benign	Het
Pex16	G	T	2: 92,205,937 (GRCm39)	R10L	probably damaging	Het
Pitpnm2	A	G	5: 124,269,152 (GRCm39)		probably benign	Het
Pom121l2	A	G	13: 22,167,375 (GRCm39)	T549A	possibly damaging	Het
Prdm15	A	T	16: 97,613,759 (GRCm39)	M470K	probably benign	Het
Prkag2	T	A	5: 25,233,503 (GRCm39)	D49V	possibly damaging	Het
Prl3c1	A	G	13: 27,383,447 (GRCm39)	M38V	probably benign	Het
Prpf18	T	A	2: 4,648,572 (GRCm39)	I85F	possibly damaging	Het
Psg27	A	G	7: 18,294,636 (GRCm39)		probably benign	Het
Relt	A	G	7: 100,497,991 (GRCm39)		probably benign	Het
Rskr	T	C	11: 78,182,362 (GRCm39)	L57P	probably benign	Het
Serpina3b	A	T	12: 104,096,929 (GRCm39)	N70I	probably damaging	Het
Slc19a3	T	C	1: 83,000,286 (GRCm39)	S244G	probably benign	Het
Slc39a5	T	C	10: 128,235,716 (GRCm39)	T81A	possibly damaging	Het
Slc7a2	G	A	8: 41,357,563 (GRCm39)	G277D	probably damaging	Het
Slc9c1	C	T	16: 45,420,250 (GRCm39)		probably benign	Het
Slx1b	A	G	7: 126,291,753 (GRCm39)	F104L	probably benign	Het
Smg6	G	A	11: 74,820,527 (GRCm39)	S266N	probably damaging	Het
Spata9	T	C	13: 76,146,614 (GRCm39)	V162A	possibly damaging	Het
Szrd1	T	C	4: 140,846,055 (GRCm39)	I47V	probably benign	Het
Tha1	G	T	11: 117,759,401 (GRCm39)	L363M	probably benign	Het
Tmem132d	C	T	5: 127,866,849 (GRCm39)	G684R	probably damaging	Het
Trim55	G	A	3: 19,725,142 (GRCm39)	G220S	probably benign	Het
Ttn	A	G	2: 76,600,874 (GRCm39)	L18836P	probably damaging	Het
Ubn1	G	T	16: 4,890,048 (GRCm39)		probably benign	Het
Ush2a	T	G	1: 188,643,228 (GRCm39)	W4197G	probably benign	Het
Vmn1r189	A	T	13: 22,286,231 (GRCm39)	V202E	probably damaging	Het
Vmn1r209	T	C	13: 22,990,526 (GRCm39)	I55V	probably benign	Het
Vmn2r86	A	T	10: 130,282,412 (GRCm39)	C735S	probably damaging	Het
Vwf	A	T	6: 125,543,281 (GRCm39)	D174V	probably damaging	Het
Zfp438	T	C	18: 5,214,910 (GRCm39)	N16S	probably damaging	Het
Zfp444	C	T	7: 6,192,408 (GRCm39)	T142I	probably benign	Het
Zfp804a	A	G	2: 81,884,135 (GRCm39)	M1V	probably null	Het
Zfp936	T	G	7: 42,838,734 (GRCm39)	I67S	probably benign	Het
Zfp948	A	T	17: 21,807,260 (GRCm39)	N151Y	unknown	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
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'- TTGTCTCACCCAGCAAGAAGTAAGC -3'
(R):5'- ATACCCTGCCACCGGATTTCCAAG -3'

Sequencing Primer
(F):5'- GAGCTATTACTGGAGCTACTGACC -3'
(R):5'- ATTTCCAAGGTCGCAGCC -3'

Posted On

2013-05-23