Incidental Mutation 'IGL00913:Tmc8'
ID28507
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: 0.060) question?
Stock #IGL00913
Quality Score
Status
Chromosome11
Chromosomal Location117782076-117793110 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 117786504 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Arginine at position 317 (G317R)
Ref Sequence ENSEMBL: ENSMUSP00000113628 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050874] [ENSMUST00000106334] [ENSMUST00000117781] [ENSMUST00000119455] [ENSMUST00000127080] [ENSMUST00000152304]
Predicted Effect probably damaging
Transcript: ENSMUST00000050874
AA Change: G316R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051878
Gene: ENSMUSG00000050106
AA Change: G316R

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: G317R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101941
Gene: ENSMUSG00000050106
AA Change: G317R

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 damaging
Transcript: ENSMUST00000117781
AA Change: G316R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113570
Gene: ENSMUSG00000050106
AA Change: G316R

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: G317R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113628
Gene: ENSMUSG00000050106
AA Change: G317R

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 probably benign
Transcript: ENSMUST00000152304
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155505
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf4 A G 17: 42,666,902 S517P possibly damaging Het
Arl4c T C 1: 88,701,384 D94G probably damaging Het
Bag5 T C 12: 111,711,332 E19G probably damaging Het
Carf T A 1: 60,147,955 D537E probably benign Het
Cd177 C A 7: 24,756,195 D301Y probably damaging Het
Csmd1 C T 8: 16,071,287 V1799I probably benign Het
Cyp4x1 T A 4: 115,112,863 I356F probably benign Het
Elmsan1 T A 12: 84,172,858 I441L probably benign Het
F5 A T 1: 164,204,896 H1804L probably damaging Het
Fras1 G T 5: 96,695,076 G1718C probably damaging Het
Ganc T C 2: 120,439,452 probably benign Het
Gm9992 A T 17: 7,369,739 V130D probably damaging Het
Hs3st5 A G 10: 36,832,850 D127G probably damaging Het
Inpp5a A G 7: 139,516,721 D154G probably benign Het
Kif16b T A 2: 142,704,007 R1134* probably null Het
Lrrc66 C T 5: 73,608,156 A515T possibly damaging Het
Map3k10 C T 7: 27,663,215 probably benign Het
Mrpl12 G A 11: 120,485,376 D71N possibly damaging Het
Nfix A T 8: 84,726,477 V316E probably damaging Het
Nop2 A G 6: 125,139,821 Y346C probably damaging Het
Nrbp1 A G 5: 31,251,059 E513G possibly damaging Het
Ogfrl1 T C 1: 23,370,090 I352V probably benign Het
Olfr1351 A G 10: 79,018,251 T310A probably benign Het
Olfr912 T A 9: 38,581,376 V33E probably damaging Het
Oxr1 G A 15: 41,820,143 V15I possibly damaging Het
Pik3r6 T G 11: 68,551,321 F697C probably damaging Het
Ptk2 A G 15: 73,295,389 probably benign Het
Rnft2 G A 5: 118,201,215 T380M probably damaging Het
Scel A G 14: 103,581,809 N346S probably benign Het
Sema4a T A 3: 88,449,810 T153S probably damaging Het
Serinc2 A T 4: 130,264,408 L82Q possibly damaging Het
Sin3a A G 9: 57,098,118 T392A probably benign Het
Slc25a38 T A 9: 120,120,307 Y108* probably null Het
Trpc3 A G 3: 36,640,639 V722A possibly damaging Het
Other mutations in Tmc8
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02685:Tmc8 APN 11 117792574 missense probably damaging 0.96
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 On2013-04-17