Incidental Mutation 'IGL02685:Tmc8'
ID303522
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmc8
Ensembl Gene ENSMUSG00000050106
Gene Nametransmembrane channel-like gene family 8
SynonymsEver2, EVIN2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #IGL02685
Quality Score
Status
Chromosome11
Chromosomal Location117782076-117793110 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 117792574 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 652 (S652P)
Ref Sequence ENSEMBL: ENSMUSP00000113628 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050874] [ENSMUST00000106334] [ENSMUST00000117781] [ENSMUST00000119455]
Predicted Effect possibly damaging
Transcript: ENSMUST00000050874
AA Change: S651P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000051878
Gene: ENSMUSG00000050106
AA Change: S651P

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 damaging
Transcript: ENSMUST00000106334
AA Change: S652P

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101941
Gene: ENSMUSG00000050106
AA Change: S652P

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 possibly damaging
Transcript: ENSMUST00000117781
AA Change: S651P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113570
Gene: ENSMUSG00000050106
AA Change: S651P

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 damaging
Transcript: ENSMUST00000119455
AA Change: S652P

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113628
Gene: ENSMUSG00000050106
AA Change: S652P

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 noncoding transcript
Transcript: ENSMUST00000156458
Coding Region Coverage
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 8 predicted transmembrane domains and 3 leucine zipper motifs. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T C 12: 118,905,947 Y779C probably damaging Het
Acad10 A G 5: 121,632,609 F532L probably benign Het
Adgrb3 A T 1: 25,084,242 probably null Het
Akr1d1 T C 6: 37,530,343 probably benign Het
Aqp11 A G 7: 97,737,552 Y146H probably damaging Het
Cdh2 A T 18: 16,646,500 L168Q probably damaging Het
Ces2f C T 8: 104,953,098 Q277* probably null Het
Cmya5 G A 13: 93,090,997 Q2528* probably null Het
Col22a1 A G 15: 71,801,915 V984A unknown Het
Col5a3 T C 9: 20,772,205 D1557G unknown Het
Cpb1 A T 3: 20,265,356 V188E probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Ephb1 G T 9: 102,041,103 Y402* probably null Het
Foxm1 T C 6: 128,373,107 L319S possibly damaging Het
Gmppb T C 9: 108,049,919 probably benign Het
Grid2 T G 6: 64,345,816 M600R possibly damaging Het
Gstm6 T C 3: 107,941,191 K57E probably benign Het
Hars2 T G 18: 36,791,118 S422A probably benign Het
Igdcc4 T C 9: 65,133,825 M1092T possibly damaging Het
Ighv13-1 C A 12: 114,267,783 probably benign Het
Iqgap2 C A 13: 95,671,404 R785L probably damaging Het
Kalrn G A 16: 34,513,959 Q8* probably null Het
Mms22l A G 4: 24,591,133 T1035A probably benign Het
Myo1b A G 1: 51,778,499 Y535H probably damaging Het
Neb T A 2: 52,175,301 K6234N possibly damaging Het
Nlrp9c A G 7: 26,385,557 I199T probably damaging Het
Olfr1213 T A 2: 88,973,021 N290I possibly damaging Het
Olfr1328 A T 4: 118,933,937 F304I possibly damaging Het
Olfr651 C A 7: 104,553,150 T77K probably benign Het
Olfr851 T C 9: 19,496,802 I18T probably benign Het
Osmr T C 15: 6,815,573 E904G probably benign Het
Pde8b T C 13: 95,026,120 *831W probably null Het
Prkdc T C 16: 15,836,043 V3888A possibly damaging Het
Scn9a C A 2: 66,537,293 S693I probably damaging Het
Sepsecs T C 5: 52,647,192 T379A probably benign Het
Ska1 T A 18: 74,197,048 H207L probably benign Het
Slc17a9 C A 2: 180,733,809 Q175K probably damaging Het
Slc38a2 G A 15: 96,691,425 T396I probably benign Het
Slc9a4 A C 1: 40,629,582 H795P probably benign Het
Sorbs2 C T 8: 45,803,840 T955I probably benign Het
Spata4 A T 8: 54,600,928 H43L probably benign Het
Ss18l2 G A 9: 121,710,418 A6T possibly damaging Het
Sult1e1 C T 5: 87,579,906 W172* probably null Het
Tlcd1 T C 11: 78,179,537 probably benign Het
Vps37b T C 5: 124,010,811 S54G probably damaging Het
Wdr26 A T 1: 181,183,780 S511T possibly damaging Het
Zfhx4 A G 3: 5,412,153 Y3251C probably damaging Het
Other mutations in Tmc8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00913:Tmc8 APN 11 117786504 missense probably damaging 1.00
IGL01098:Tmc8 APN 11 117792563 missense possibly damaging 0.47
IGL01403:Tmc8 APN 11 117791074 missense possibly damaging 0.94
IGL01526:Tmc8 APN 11 117792084 splice site probably benign
IGL02045:Tmc8 APN 11 117786520 missense probably damaging 1.00
IGL02138:Tmc8 APN 11 117791255 missense probably benign 0.01
IGL02581:Tmc8 APN 11 117783888 missense probably benign 0.01
R0241:Tmc8 UTSW 11 117786381 unclassified probably benign
R0485:Tmc8 UTSW 11 117792078 splice site probably benign
R1168:Tmc8 UTSW 11 117792563 missense possibly damaging 0.47
R1701:Tmc8 UTSW 11 117791362 splice site probably null
R2425:Tmc8 UTSW 11 117792569 missense probably damaging 0.96
R2509:Tmc8 UTSW 11 117792685 missense possibly damaging 0.66
R4747:Tmc8 UTSW 11 117792724 missense probably benign 0.27
R4783:Tmc8 UTSW 11 117791605 splice site probably null
R5821:Tmc8 UTSW 11 117792629 nonsense probably null
R5923:Tmc8 UTSW 11 117783812 missense probably damaging 1.00
R6381:Tmc8 UTSW 11 117791600 missense probably null 0.73
R6712:Tmc8 UTSW 11 117784813 missense probably benign 0.43
R7351:Tmc8 UTSW 11 117783828 missense probably damaging 1.00
R7493:Tmc8 UTSW 11 117784932 missense probably benign 0.00
R7818:Tmc8 UTSW 11 117792127 missense probably damaging 1.00
RF021:Tmc8 UTSW 11 117783234 missense probably benign 0.00
Z1176:Tmc8 UTSW 11 117786409 missense probably damaging 0.99
Posted On2015-04-16