Incidental Mutation 'R0241:Tmc8'
ID 59507
Institutional Source Beutler Lab
Gene Symbol Tmc8
Ensembl Gene ENSMUSG00000050106
Gene Name transmembrane channel-like gene family 8
Synonyms Ever2, EVIN2
MMRRC Submission 038479-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R0241 (G1)
Quality Score 102
Status Validated
Chromosome 11
Chromosomal Location 117672902-117683936 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 117677207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122495 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050874] [ENSMUST00000106334] [ENSMUST00000117781] [ENSMUST00000119455] [ENSMUST00000127080] [ENSMUST00000152304]
AlphaFold Q7TN58
Predicted Effect probably benign
Transcript: ENSMUST00000050874
SMART Domains Protein: ENSMUSP00000051878
Gene: ENSMUSG00000050106

DomainStartEndE-ValueType
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: ENSMUST00000106334
SMART Domains Protein: ENSMUSP00000101941
Gene: ENSMUSG00000050106

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000125577
Predicted Effect probably benign
Transcript: ENSMUST00000127080
SMART Domains Protein: ENSMUSP00000115270
Gene: ENSMUSG00000050106

DomainStartEndE-ValueType
transmembrane domain 120 142 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156458
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155505
Predicted Effect probably benign
Transcript: ENSMUST00000152304
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 99% (72/73)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck2 T A 6: 39,560,752 (GRCm39) V380E probably benign Het
Anapc1 A T 2: 128,470,549 (GRCm39) M1527K possibly damaging Het
Arfgef3 T A 10: 18,474,962 (GRCm39) I1575F probably damaging Het
Atp4a G T 7: 30,416,560 (GRCm39) G446C probably benign Het
Bicra A T 7: 15,709,070 (GRCm39) M1188K probably damaging Het
Brd7 G A 8: 89,072,478 (GRCm39) R331W probably benign Het
Cactin A G 10: 81,158,486 (GRCm39) T151A probably benign Het
Cadps G A 14: 12,376,675 (GRCm38) T1274M probably damaging Het
Catsper3 T C 13: 55,952,667 (GRCm39) M175T probably damaging Het
Chd5 A G 4: 152,450,589 (GRCm39) D605G probably damaging Het
Chst12 G A 5: 140,510,054 (GRCm39) R227H possibly damaging Het
Cic T A 7: 24,986,565 (GRCm39) S1299T probably damaging Het
Cic C A 7: 24,986,566 (GRCm39) S1299Y probably damaging Het
Cimap1d C T 10: 79,480,564 (GRCm39) probably null Het
Cobl A T 11: 12,204,524 (GRCm39) V644E probably benign Het
Ddx31 A G 2: 28,738,303 (GRCm39) T155A probably damaging Het
Dnah3 T C 7: 119,521,953 (GRCm39) Q4069R probably damaging Het
Dnah8 T C 17: 30,984,653 (GRCm39) I3117T probably damaging Het
Doc2b A G 11: 75,663,387 (GRCm39) V355A probably damaging Het
Dock10 A T 1: 80,556,340 (GRCm39) S578T probably benign Het
Duox1 T C 2: 122,163,878 (GRCm39) probably benign Het
Epb41l5 T C 1: 119,495,509 (GRCm39) probably null Het
Fbp2 A T 13: 63,001,862 (GRCm39) F118I probably damaging Het
Fcer2a A G 8: 3,738,796 (GRCm39) probably null Het
Fmnl1 G A 11: 103,072,996 (GRCm39) probably null Het
Fry A T 5: 150,183,811 (GRCm39) probably benign Het
Git2 T C 5: 114,871,290 (GRCm39) E208G probably damaging Het
Hs6st3 T C 14: 119,376,232 (GRCm39) F136L probably benign Het
Hydin G A 8: 111,124,655 (GRCm39) V555I probably benign Het
Kcns1 A T 2: 164,010,300 (GRCm39) I153N probably damaging Het
Kmt2b A G 7: 30,276,494 (GRCm39) L1726S probably damaging Het
Loxl3 A G 6: 83,027,114 (GRCm39) D615G probably damaging Het
Negr1 T A 3: 156,914,036 (GRCm39) probably benign Het
Nfasc C A 1: 132,564,731 (GRCm39) A70S probably benign Het
Or4d1 T A 11: 87,804,860 (GRCm39) N291Y probably damaging Het
Or4p21 A T 2: 88,276,889 (GRCm39) M131K possibly damaging Het
Or52n4 A G 7: 104,294,450 (GRCm39) M41T probably benign Het
Or5g29 A G 2: 85,421,154 (GRCm39) K90R probably benign Het
Otud7a T C 7: 63,346,992 (GRCm39) probably benign Het
Pacs2 T C 12: 113,032,890 (GRCm39) probably benign Het
Pde7b A G 10: 20,311,962 (GRCm39) C239R probably damaging Het
Pdzd2 A T 15: 12,368,027 (GRCm39) L2654Q probably damaging Het
Pgap1 T C 1: 54,575,110 (GRCm39) probably null Het
Proz T A 8: 13,115,356 (GRCm39) M124K probably benign Het
Raet1d A G 10: 22,247,328 (GRCm39) T135A probably benign Het
Rapgef1 A G 2: 29,592,682 (GRCm39) N558S possibly damaging Het
Rpl7 C G 1: 16,173,446 (GRCm39) G101A possibly damaging Het
Sec14l1 G A 11: 117,037,924 (GRCm39) probably benign Het
Sfi1 CCTCTC CCTCTCTC 11: 3,127,419 (GRCm39) probably benign Het
Simc1 G T 13: 54,698,338 (GRCm39) L1319F probably damaging Het
Sspo A G 6: 48,438,429 (GRCm39) E1499G possibly damaging Het
Tango6 C T 8: 107,473,993 (GRCm39) probably benign Het
Tas2r118 T C 6: 23,969,338 (GRCm39) Y241C probably damaging Het
Tbck A G 3: 132,430,636 (GRCm39) E344G probably benign Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Thop1 T A 10: 80,916,079 (GRCm39) probably benign Het
Tmbim7 A T 5: 3,716,866 (GRCm39) Y66F probably benign Het
Tnfrsf19 A G 14: 61,211,041 (GRCm39) S216P possibly damaging Het
Trappc2l A G 8: 123,341,132 (GRCm39) probably benign Het
Trim67 A G 8: 125,549,929 (GRCm39) R520G probably damaging Het
Ubp1 T A 9: 113,795,655 (GRCm39) probably null Het
Vil1 T C 1: 74,465,853 (GRCm39) L548P probably damaging Het
Wdr3 A G 3: 100,052,973 (GRCm39) V593A probably damaging Het
Wdr5 A G 2: 27,423,025 (GRCm39) Y243C probably damaging Het
Zan T C 5: 137,420,084 (GRCm39) T2858A unknown Het
Zbtb37 A T 1: 160,847,939 (GRCm39) V356E probably benign Het
Zfp36 C T 7: 28,077,759 (GRCm39) V50I probably damaging Het
Zfp563 A T 17: 33,323,659 (GRCm39) S85C possibly damaging Het
Other mutations in Tmc8
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R7493:Tmc8 UTSW 11 117,675,758 (GRCm39) missense probably benign 0.00
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
Posted On 2013-07-11