Incidental Mutation 'R6354:Tmc6'
ID 512982
Institutional Source Beutler Lab
Gene Symbol Tmc6
Ensembl Gene ENSMUSG00000025572
Gene Name transmembrane channel-like gene family 6
Synonyms EVER1, D11Ertd204e
MMRRC Submission 044506-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6354 (G1)
Quality Score 193.009
Status Validated
Chromosome 11
Chromosomal Location 117656811-117673019 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 117665062 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 404 (C404G)
Ref Sequence ENSEMBL: ENSMUSP00000026659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026659] [ENSMUST00000103025] [ENSMUST00000127227] [ENSMUST00000131606] [ENSMUST00000136729] [ENSMUST00000143406] [ENSMUST00000152304]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000026659
AA Change: C404G

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000026659
Gene: ENSMUSG00000025572
AA Change: C404G

DomainStartEndE-ValueType
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: ENSMUST00000103025
SMART Domains Protein: ENSMUSP00000099314
Gene: ENSMUSG00000025572

DomainStartEndE-ValueType
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: ENSMUST00000127227
Predicted Effect probably benign
Transcript: ENSMUST00000131606
SMART Domains Protein: ENSMUSP00000123264
Gene: ENSMUSG00000025572

DomainStartEndE-ValueType
low complexity region 58 68 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136729
SMART Domains Protein: ENSMUSP00000118068
Gene: ENSMUSG00000025572

DomainStartEndE-ValueType
low complexity region 47 58 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143406
SMART Domains Protein: ENSMUSP00000117566
Gene: ENSMUSG00000025572

DomainStartEndE-ValueType
low complexity region 47 58 N/A INTRINSIC
low complexity region 106 116 N/A INTRINSIC
low complexity region 210 226 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000152304
Predicted Effect probably benign
Transcript: ENSMUST00000149589
SMART Domains Protein: ENSMUSP00000116521
Gene: ENSMUSG00000025572

DomainStartEndE-ValueType
Pfam:TMC 61 108 1.3e-11 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.5%
  • 20x: 95.3%
Validation Efficiency 100% (56/56)
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 10 transmembrane domains and 2 leucine zipper motifs. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T C 11: 109,685,042 (GRCm39) K152E probably benign Het
Adamts20 C A 15: 94,245,691 (GRCm39) C537F probably damaging Het
Apc A T 18: 34,445,581 (GRCm39) T808S probably benign Het
Atad3a A G 4: 155,838,402 (GRCm39) I205T possibly damaging Het
Casz1 G T 4: 149,036,999 (GRCm39) G1754C unknown Het
Ccdc62 C T 5: 124,082,267 (GRCm39) A232V probably damaging Het
Cdc27 C A 11: 104,425,574 (GRCm39) D81Y probably damaging Het
Cep126 A G 9: 8,099,928 (GRCm39) S869P probably damaging Het
Cfap251 C T 5: 123,440,818 (GRCm39) T1125I probably damaging Het
Ciita A T 16: 10,341,610 (GRCm39) K983N probably damaging Het
Cimap1a A G 7: 140,430,527 (GRCm39) probably null Het
Clstn1 A C 4: 149,727,673 (GRCm39) Q523P probably benign Het
Cpb2 T C 14: 75,495,145 (GRCm39) probably null Het
Crybg2 A G 4: 133,818,447 (GRCm39) D1710G probably benign Het
Csmd3 C T 15: 47,744,885 (GRCm39) G1370D probably damaging Het
Cwf19l1 G T 19: 44,115,912 (GRCm39) D172E probably benign Het
Cyp4a14 A G 4: 115,344,441 (GRCm39) F475L probably damaging Het
Fam98c C T 7: 28,852,272 (GRCm39) V298M probably damaging Het
Gcsh T C 8: 117,710,582 (GRCm39) N127S probably benign Het
Gimap4 T C 6: 48,663,814 (GRCm39) F10S possibly damaging Het
Gm4787 C T 12: 81,424,755 (GRCm39) A468T probably damaging Het
Gm5111 G A 6: 48,567,268 (GRCm39) probably benign Het
Gm7137 C A 10: 77,623,481 (GRCm39) probably benign Het
Inpp1 A G 1: 52,836,224 (GRCm39) S81P probably damaging Het
Iqce T C 5: 140,662,090 (GRCm39) probably null Het
Ivl CCTGCTGCTGCTGCT CCTGCTGCTGCT 3: 92,479,217 (GRCm39) probably benign Het
Krtap13 C A 16: 88,548,131 (GRCm39) C119F probably damaging Het
Lama2 G T 10: 27,088,064 (GRCm39) D904E probably damaging Het
Lrrc37a T A 11: 103,355,213 (GRCm39) I2535F unknown Het
Lrrc40 T A 3: 157,766,901 (GRCm39) L452* probably null Het
Meis1 A T 11: 18,966,184 (GRCm39) M63K possibly damaging Het
Mpo T A 11: 87,688,172 (GRCm39) I277N possibly damaging Het
Mtmr11 T A 3: 96,075,992 (GRCm39) F406I probably benign Het
Muc4 T C 16: 32,575,476 (GRCm39) S1411P probably benign Het
Or2y1b A T 11: 49,208,465 (GRCm39) I31F probably damaging Het
Or4c102 T A 2: 88,422,478 (GRCm39) I110N probably damaging Het
Or56a5 G A 7: 104,792,915 (GRCm39) T195I probably benign Het
Phf21a G A 2: 92,179,282 (GRCm39) G298R probably damaging Het
Phldb2 T C 16: 45,645,477 (GRCm39) Y368C probably damaging Het
Pik3cb G T 9: 98,955,696 (GRCm39) T407K probably benign Het
Robo3 A T 9: 37,328,513 (GRCm39) probably benign Het
Sgsm1 T G 5: 113,430,522 (GRCm39) T288P probably damaging Het
Slc5a7 A G 17: 54,584,061 (GRCm39) S410P probably damaging Het
Tnrc6c A T 11: 117,640,440 (GRCm39) Q1410L possibly damaging Het
Trak1 A T 9: 121,280,792 (GRCm39) T384S probably null Het
Txlna A T 4: 129,528,205 (GRCm39) L244Q probably damaging Het
Ube3c T C 5: 29,868,581 (GRCm39) F939L probably damaging Het
Vmn2r65 T A 7: 84,589,574 (GRCm39) I781F probably benign Het
Vmn2r72 A G 7: 85,399,747 (GRCm39) probably null Het
Vps36 T C 8: 22,695,771 (GRCm39) S109P probably damaging Het
Wrn T C 8: 33,833,666 (GRCm39) I82M possibly damaging Het
Zbtb49 T C 5: 38,360,903 (GRCm39) R511G possibly damaging Het
Zeb1 A G 18: 5,772,743 (GRCm39) T1011A possibly damaging Het
Zfhx4 T C 3: 5,467,011 (GRCm39) S2390P probably benign Het
Zfp619 C A 7: 39,184,243 (GRCm39) T91K probably benign Het
Zfp644 A G 5: 106,784,619 (GRCm39) S643P probably benign Het
Other mutations in Tmc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00763:Tmc6 APN 11 117,669,872 (GRCm39) missense probably damaging 0.99
IGL02637:Tmc6 APN 11 117,658,416 (GRCm39) missense possibly damaging 0.94
PIT4520001:Tmc6 UTSW 11 117,663,556 (GRCm39) missense possibly damaging 0.55
R0140:Tmc6 UTSW 11 117,657,077 (GRCm39) unclassified probably benign
R0149:Tmc6 UTSW 11 117,660,274 (GRCm39) missense probably damaging 1.00
R0437:Tmc6 UTSW 11 117,669,087 (GRCm39) missense possibly damaging 0.88
R1566:Tmc6 UTSW 11 117,660,262 (GRCm39) missense probably damaging 0.99
R2011:Tmc6 UTSW 11 117,660,232 (GRCm39) missense probably damaging 1.00
R2012:Tmc6 UTSW 11 117,660,232 (GRCm39) missense probably damaging 1.00
R2169:Tmc6 UTSW 11 117,659,932 (GRCm39) missense probably damaging 1.00
R2568:Tmc6 UTSW 11 117,663,646 (GRCm39) missense probably benign 0.08
R3853:Tmc6 UTSW 11 117,663,884 (GRCm39) nonsense probably null
R4049:Tmc6 UTSW 11 117,669,087 (GRCm39) missense possibly damaging 0.88
R4655:Tmc6 UTSW 11 117,663,868 (GRCm39) missense possibly damaging 0.62
R4708:Tmc6 UTSW 11 117,659,774 (GRCm39) missense probably benign 0.00
R5001:Tmc6 UTSW 11 117,661,610 (GRCm39) missense probably benign 0.28
R5115:Tmc6 UTSW 11 117,666,014 (GRCm39) missense probably damaging 0.98
R5551:Tmc6 UTSW 11 117,660,271 (GRCm39) missense probably damaging 1.00
R5667:Tmc6 UTSW 11 117,666,441 (GRCm39) missense possibly damaging 0.87
R5671:Tmc6 UTSW 11 117,666,441 (GRCm39) missense possibly damaging 0.87
R5763:Tmc6 UTSW 11 117,660,259 (GRCm39) missense possibly damaging 0.90
R6137:Tmc6 UTSW 11 117,667,154 (GRCm39) missense probably damaging 1.00
R6418:Tmc6 UTSW 11 117,661,326 (GRCm39) missense probably damaging 0.99
R6868:Tmc6 UTSW 11 117,665,143 (GRCm39) missense probably benign 0.01
R7006:Tmc6 UTSW 11 117,665,083 (GRCm39) missense probably damaging 0.96
R7208:Tmc6 UTSW 11 117,667,151 (GRCm39) missense probably benign 0.41
R7210:Tmc6 UTSW 11 117,666,670 (GRCm39) missense possibly damaging 0.59
R7633:Tmc6 UTSW 11 117,660,046 (GRCm39) missense probably benign
R8802:Tmc6 UTSW 11 117,665,901 (GRCm39) missense possibly damaging 0.81
R8959:Tmc6 UTSW 11 117,661,293 (GRCm39) critical splice donor site probably null
R9002:Tmc6 UTSW 11 117,661,308 (GRCm39) missense probably damaging 1.00
R9621:Tmc6 UTSW 11 117,669,995 (GRCm39) missense probably benign 0.00
Z1177:Tmc6 UTSW 11 117,669,573 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CAGGGATAATGCCACGGAGG -3'
(R):5'- ATCACCTGTCTGTCTACCCA -3'

Sequencing Primer
(F):5'- GCCCCAGCTGAAGTAAGGTAC -3'
(R):5'- ATCCTCCCATTGTTCACTGCTTG -3'
Posted On 2018-04-27