Mutagenetix > Incidental Mutation

Incidental Mutation 'R7493:Tmc8'

580948

Institutional Source

Beutler Lab

Gene Symbol

Tmc8

Ensembl Gene

ENSMUSG00000050106

Gene Name

transmembrane channel-like gene family 8

Synonyms

Ever2, EVIN2

MMRRC Submission

045567-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R7493 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

117672902-117683936 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 117675758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 225 (I225T)

Ref Sequence

ENSEMBL: ENSMUSP00000101941 (fasta)

Gene Model

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

AlphaFold

Q7TN58

Predicted Effect

probably benign
Transcript: ENSMUST00000026659

SMART Domains

Protein: ENSMUSP00000026659
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
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
AA Change: I224T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000051878
Gene: ENSMUSG00000050106
AA Change: I224T

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

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: ENSMUST00000106334
AA Change: I225T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000101941
Gene: ENSMUSG00000050106
AA Change: I225T

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
AA Change: I224T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113570
Gene: ENSMUSG00000050106
AA Change: I224T

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
AA Change: I225T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000113628
Gene: ENSMUSG00000050106
AA Change: I225T

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

probably benign
Transcript: ENSMUST00000127227

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: ENSMUST00000152304

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (74/76)

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 8 predicted transmembrane domains and 3 leucine zipper motifs. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,385,257 (GRCm39)	L236P	possibly damaging	Het
Abca7	T	A	10: 79,837,896 (GRCm39)	D488E	probably damaging	Het
Adora2a	A	G	10: 75,169,423 (GRCm39)	K296E	possibly damaging	Het
Aopep	A	G	13: 63,163,345 (GRCm39)	D122G	probably benign	Het
Atp13a4	T	A	16: 29,290,774 (GRCm39)	E225V		Het
Bpifb2	A	G	2: 153,731,397 (GRCm39)	M258V	possibly damaging	Het
Brd2	G	A	17: 34,341,231 (GRCm39)		probably benign	Het
Btaf1	G	T	19: 36,987,005 (GRCm39)	V1700F	probably damaging	Het
C2cd3	A	G	7: 100,076,433 (GRCm39)	I797V		Het
Ccdc148	T	G	2: 58,899,160 (GRCm39)	E71A	probably damaging	Het
Ccdc18	T	A	5: 108,354,483 (GRCm39)	L1074*	probably null	Het
Ccne2	A	G	4: 11,198,772 (GRCm39)	D215G	probably damaging	Het
Cers6	T	A	2: 68,692,151 (GRCm39)		probably null	Het
Copz1	A	G	15: 103,204,971 (GRCm39)	E110G	probably damaging	Het
Cped1	A	T	6: 22,215,512 (GRCm39)	D682V	probably damaging	Het
Crb1	A	T	1: 139,164,768 (GRCm39)	C1180S	probably damaging	Het
Cyren	A	T	6: 34,851,593 (GRCm39)	L114Q	probably damaging	Het
Echdc3	A	T	2: 6,194,368 (GRCm39)	L229Q	probably damaging	Het
Etfb	C	T	7: 43,104,000 (GRCm39)	P145L	probably damaging	Het
Exoc3l2	G	T	7: 19,203,813 (GRCm39)	R135L		Het
Fam83a	G	A	15: 57,849,569 (GRCm39)	A38T	probably damaging	Het
G6pc2	T	C	2: 69,053,344 (GRCm39)	Y133H	probably benign	Het
Gfy	T	C	7: 44,827,518 (GRCm39)	I193V	probably benign	Het
Ggnbp2	T	C	11: 84,744,899 (GRCm39)	T208A	probably benign	Het
Gigyf1	T	A	5: 137,523,795 (GRCm39)	M1019K	probably damaging	Het
Gm45783	T	C	7: 7,373,599 (GRCm39)	D61G	probably damaging	Het
Golga5	T	C	12: 102,450,835 (GRCm39)		probably null	Het
Ighe	A	G	12: 113,235,023 (GRCm39)	V379A		Het
Itpr3	C	A	17: 27,313,774 (GRCm39)	H573Q	probably benign	Het
Klhl2	A	G	8: 65,202,809 (GRCm39)	L463P	probably damaging	Het
Large1	T	G	8: 73,550,343 (GRCm39)	M619L	probably benign	Het
Limd1	T	A	9: 123,308,748 (GRCm39)	V149E	probably benign	Het
Lyz2	T	C	10: 117,118,144 (GRCm39)	K2E	probably damaging	Het
Man2c1	T	A	9: 57,048,412 (GRCm39)	S858T	probably damaging	Het
Nt5dc1	A	T	10: 34,180,932 (GRCm39)	N439K	probably benign	Het
Or4a2	A	G	2: 89,248,145 (GRCm39)	I204T	probably benign	Het
Or4n4b	G	A	14: 50,536,281 (GRCm39)	L162F	probably benign	Het
Or4p7	T	C	2: 88,222,224 (GRCm39)	V211A	possibly damaging	Het
Or51f1	A	T	7: 102,506,278 (GRCm39)	Y70*	probably null	Het
Or5d43	T	C	2: 88,105,445 (GRCm39)		probably benign	Het
Or7g27	A	C	9: 19,250,109 (GRCm39)	M118L	probably damaging	Het
Otogl	T	C	10: 107,722,843 (GRCm39)	N296S	probably benign	Het
Patj	A	G	4: 98,383,298 (GRCm39)	N789D	probably benign	Het
Pcsk6	A	G	7: 65,693,314 (GRCm39)	D851G	possibly damaging	Het
Peg3	T	C	7: 6,712,723 (GRCm39)	H833R	probably damaging	Het
Pira1	T	C	7: 3,742,023 (GRCm39)	E119G	not run	Het
Plekha5	A	G	6: 140,526,161 (GRCm39)	D933G	probably benign	Het
Pnma1	G	A	12: 84,193,903 (GRCm39)	R267C	probably damaging	Het
Ppp3cb	T	A	14: 20,558,619 (GRCm39)	H481L	probably benign	Het
Prl8a8	T	C	13: 27,695,418 (GRCm39)		probably null	Het
Ptma	GGAAGAAG	GGAAGAAGAAG	1: 86,457,261 (GRCm39)		probably benign	Het
Ptpro	C	A	6: 137,359,647 (GRCm39)	L406I	probably benign	Het
Rbpj	T	C	5: 53,758,276 (GRCm39)	S18P	probably benign	Het
Rhbg	C	T	3: 88,154,886 (GRCm39)	V173M	probably damaging	Het
Rps6kc1	A	G	1: 190,532,254 (GRCm39)	S583P	probably benign	Het
Ryr1	T	C	7: 28,794,630 (GRCm39)	S1217G	probably benign	Het
S1pr1	A	T	3: 115,505,922 (GRCm39)	I224N	probably damaging	Het
Sall1	C	T	8: 89,757,681 (GRCm39)	D808N	probably benign	Het
Shoc2	T	C	19: 53,976,467 (GRCm39)	V119A	probably benign	Het
Spata31h1	A	T	10: 82,124,798 (GRCm39)	Y2737*	probably null	Het
Spata31h1	T	C	10: 82,152,264 (GRCm39)	Y34C	unknown	Het
Ssh2	A	T	11: 77,328,542 (GRCm39)	E369D	probably benign	Het
Stx1b	C	T	7: 127,406,531 (GRCm39)	V273M	possibly damaging	Het
Syne2	A	G	12: 76,012,654 (GRCm39)	H2615R	probably benign	Het
Tmem126b	A	G	7: 90,121,854 (GRCm39)	I52T	probably benign	Het
Top2b	G	A	14: 16,416,605 (GRCm38)	D1122N	probably benign	Het
Trav13-2	T	A	14: 53,872,363 (GRCm39)	S7T	possibly damaging	Het
Ttc1	A	T	11: 43,636,189 (GRCm39)	L18Q	probably damaging	Het
Ttn	A	T	2: 76,567,553 (GRCm39)	I27780N	probably damaging	Het
Ubfd1	T	C	7: 121,666,635 (GRCm39)	S44P	probably benign	Het
Vmn1r89	A	G	7: 12,953,632 (GRCm39)	K123E	probably damaging	Het
Vmn2r62	A	C	7: 42,437,316 (GRCm39)	F389L	possibly damaging	Het
Vps35l	C	T	7: 118,393,800 (GRCm39)		probably null	Het
Zdhhc11	T	A	13: 74,121,726 (GRCm39)	M79K	possibly damaging	Het
Zfp202	G	T	9: 40,118,640 (GRCm39)	V18F	possibly damaging	Het
Zfp39	A	G	11: 58,781,869 (GRCm39)	F298L	possibly damaging	Het
Znrf1	G	A	8: 112,264,071 (GRCm39)	G100D	probably damaging	Het

Other mutations in Tmc8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00913:Tmc8	APN	11	117,677,330 (GRCm39)	missense	probably damaging	1.00
IGL01098:Tmc8	APN	11	117,683,389 (GRCm39)	missense	possibly damaging	0.47
IGL01403:Tmc8	APN	11	117,681,900 (GRCm39)	missense	possibly damaging	0.94
IGL01526:Tmc8	APN	11	117,682,910 (GRCm39)	splice site	probably benign
IGL02045:Tmc8	APN	11	117,677,346 (GRCm39)	missense	probably damaging	1.00
IGL02138:Tmc8	APN	11	117,682,081 (GRCm39)	missense	probably benign	0.01
IGL02581:Tmc8	APN	11	117,674,714 (GRCm39)	missense	probably benign	0.01
IGL02685:Tmc8	APN	11	117,683,400 (GRCm39)	missense	probably damaging	0.96
R0241:Tmc8	UTSW	11	117,677,207 (GRCm39)	unclassified	probably benign
R0485:Tmc8	UTSW	11	117,682,904 (GRCm39)	splice site	probably benign
R1168:Tmc8	UTSW	11	117,683,389 (GRCm39)	missense	possibly damaging	0.47
R1701:Tmc8	UTSW	11	117,682,188 (GRCm39)	splice site	probably null
R2425:Tmc8	UTSW	11	117,683,395 (GRCm39)	missense	probably damaging	0.96
R2509:Tmc8	UTSW	11	117,683,511 (GRCm39)	missense	possibly damaging	0.66
R4747:Tmc8	UTSW	11	117,683,550 (GRCm39)	missense	probably benign	0.27
R4783:Tmc8	UTSW	11	117,682,431 (GRCm39)	splice site	probably null
R5821:Tmc8	UTSW	11	117,683,455 (GRCm39)	nonsense	probably null
R5923:Tmc8	UTSW	11	117,674,638 (GRCm39)	missense	probably damaging	1.00
R6381:Tmc8	UTSW	11	117,682,426 (GRCm39)	missense	probably null	0.73
R6712:Tmc8	UTSW	11	117,675,639 (GRCm39)	missense	probably benign	0.43
R7351:Tmc8	UTSW	11	117,674,654 (GRCm39)	missense	probably damaging	1.00
R7818:Tmc8	UTSW	11	117,682,953 (GRCm39)	missense	probably damaging	1.00
R8190:Tmc8	UTSW	11	117,682,186 (GRCm39)	critical splice donor site	probably null
R8699:Tmc8	UTSW	11	117,674,361 (GRCm39)	missense	possibly damaging	0.71
R8780:Tmc8	UTSW	11	117,681,558 (GRCm39)	frame shift	probably null
R9768:Tmc8	UTSW	11	117,676,029 (GRCm39)	missense	probably damaging	1.00
RF021:Tmc8	UTSW	11	117,674,060 (GRCm39)	missense	probably benign	0.00
Z1176:Tmc8	UTSW	11	117,677,235 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTCCAGGGCAAGCACTTCAG -3'
(R):5'- AGAACACTTTGGCGCTGAGG -3'

Sequencing Primer
(F):5'- AAGCACTTCAGGGCCCTG -3'
(R):5'- TGACCCAAGAGTGTCTGCTG -3'

Posted On

2019-10-17