Incidental Mutation 'IGL02045:Tmc8'
ID184902
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: 0.054) question?
Stock #IGL02045
Quality Score
Status
Chromosome11
Chromosomal Location117782076-117793110 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 117786520 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 322 (I322N)
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: I321N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051878
Gene: ENSMUSG00000050106
AA Change: I321N

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: I322N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101941
Gene: ENSMUSG00000050106
AA Change: I322N

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: I321N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113570
Gene: ENSMUSG00000050106
AA Change: I321N

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: I322N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113628
Gene: ENSMUSG00000050106
AA Change: I322N

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C A 5: 114,240,660 H2044Q possibly damaging Het
Ankrd12 A T 17: 65,986,249 S730T probably benign Het
Ano9 A T 7: 141,102,469 N655K probably benign Het
Ap1ar A T 3: 127,815,649 Y108N probably damaging Het
Asap3 A G 4: 136,227,441 I55V probably benign Het
Barx2 T C 9: 31,858,798 T145A probably damaging Het
Camta1 T C 4: 151,073,985 probably null Het
Ces2e C T 8: 104,930,658 probably benign Het
Cflar T C 1: 58,752,744 I405T probably benign Het
Cyp51 A G 5: 4,083,247 S464P probably damaging Het
Ermard G A 17: 15,051,564 probably benign Het
Fam92b T A 8: 120,169,722 K174* probably null Het
Glb1l2 T C 9: 26,796,545 T49A probably benign Het
Gls A G 1: 52,219,515 V198A probably benign Het
Heatr5b A T 17: 78,808,426 I867N probably damaging Het
Ighv1-14 A T 12: 114,646,714 noncoding transcript Het
Iqsec1 T C 6: 90,664,069 K1022E probably damaging Het
Myo10 A G 15: 25,726,488 T299A probably benign Het
Nr2e3 A T 9: 59,949,008 M82K probably benign Het
Ntpcr A G 8: 125,745,452 probably benign Het
Olfr1424 T C 19: 12,058,889 T288A possibly damaging Het
Olfr385 A G 11: 73,589,232 C169R probably damaging Het
Olfr508 A G 7: 108,630,532 D180G probably damaging Het
Olfr605 A G 7: 103,442,952 L57P probably damaging Het
Olfr814 A T 10: 129,874,222 D178E probably benign Het
Prkcb A G 7: 122,590,167 D506G probably damaging Het
Rasgef1a A G 6: 118,089,443 I470V probably benign Het
Rbm27 A G 18: 42,319,913 E514G possibly damaging Het
Rgs22 G A 15: 36,013,154 A1048V probably benign Het
Secisbp2l A G 2: 125,775,578 F60L possibly damaging Het
Six4 T C 12: 73,108,655 S505G probably benign Het
Skint1 T A 4: 112,025,530 V257E possibly damaging Het
Smad9 A G 3: 54,786,172 N174S possibly damaging Het
Smc2 A G 4: 52,462,914 N635D probably benign Het
Stradb T A 1: 58,989,778 I135N probably damaging Het
Syt12 T C 19: 4,447,734 T407A probably damaging Het
Tnip1 A C 11: 54,911,539 *648G probably null Het
Ttc3 T C 16: 94,409,681 probably benign 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
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 On2014-05-07