Incidental Mutation 'R5667:Tmc6'
ID 444486
Institutional Source Beutler Lab
Gene Symbol Tmc6
Ensembl Gene ENSMUSG00000025572
Gene Name transmembrane channel-like gene family 6
Synonyms EVER1, D11Ertd204e
MMRRC Submission 043310-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5667 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 117656811-117673019 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 117666441 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 288 (S288P)
Ref Sequence ENSEMBL: ENSMUSP00000099314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026659] [ENSMUST00000103025] [ENSMUST00000127227] [ENSMUST00000131606] [ENSMUST00000136729] [ENSMUST00000143406] [ENSMUST00000152304]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000026659
AA Change: S288P

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000026659
Gene: ENSMUSG00000025572
AA Change: S288P

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 possibly damaging
Transcript: ENSMUST00000103025
AA Change: S288P

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099314
Gene: ENSMUSG00000025572
AA Change: S288P

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: ENSMUST00000149589
SMART Domains Protein: ENSMUSP00000116521
Gene: ENSMUSG00000025572

DomainStartEndE-ValueType
Pfam:TMC 61 108 1.3e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152304
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 96% (54/56)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
Adamts16 A T 13: 70,984,494 (GRCm39) Y56* probably null Het
Ak2 T A 4: 128,902,040 (GRCm39) F238I probably damaging Het
Akap8l T C 17: 32,557,266 (GRCm39) Y115C probably damaging Het
Alms1 A G 6: 85,673,753 (GRCm39) D3116G probably damaging Het
Arhgap24 T G 5: 102,994,037 (GRCm39) probably null Het
Arhgap45 A G 10: 79,861,310 (GRCm39) E491G probably damaging Het
Atp8b1 C T 18: 64,714,994 (GRCm39) C86Y probably damaging Het
Atxn1 T C 13: 45,710,853 (GRCm39) K693R probably benign Het
Bltp1 A T 3: 36,971,826 (GRCm39) T520S probably benign Het
Btbd10 T C 7: 112,931,931 (GRCm39) K165R probably damaging Het
Capn11 C T 17: 45,950,600 (GRCm39) R293Q possibly damaging Het
Chordc1 T G 9: 18,206,628 (GRCm39) F33V probably damaging Het
Clca4b G A 3: 144,627,624 (GRCm39) T449I probably benign Het
Clip4 A C 17: 72,096,878 (GRCm39) M1L probably damaging Het
Cyfip1 C T 7: 55,523,478 (GRCm39) T90I probably benign Het
Cyp4v3 G T 8: 45,761,572 (GRCm39) T417K possibly damaging Het
Exoc3l4 T C 12: 111,389,851 (GRCm39) I142T probably damaging Het
Flnb T A 14: 7,890,843 (GRCm38) I575N probably benign Het
Foxa1 A T 12: 57,589,081 (GRCm39) S380T probably benign Het
Foxi2 A T 7: 135,012,668 (GRCm39) probably null Het
Gad1-ps A T 10: 99,280,395 (GRCm39) noncoding transcript Het
Gpa33 A G 1: 165,974,360 (GRCm39) T66A possibly damaging Het
Gpr45 A G 1: 43,072,218 (GRCm39) Y287C probably damaging Het
H2-Eb1 C A 17: 34,533,229 (GRCm39) Y150* probably null Het
Hsd17b8 T C 17: 34,245,435 (GRCm39) D233G probably null Het
Ifna6 A T 4: 88,745,906 (GRCm39) Q85L probably damaging Het
Ivns1abp G T 1: 151,229,760 (GRCm39) L149F probably benign Het
Kank4 A G 4: 98,653,698 (GRCm39) probably null Het
Katnip T A 7: 125,442,627 (GRCm39) probably null Het
Lama2 A T 10: 27,066,540 (GRCm39) C1114S probably damaging Het
Lmbr1l A C 15: 98,805,489 (GRCm39) D337E possibly damaging Het
Lrrn3 A C 12: 41,502,297 (GRCm39) S673R possibly damaging Het
Ly75 T C 2: 60,138,655 (GRCm39) D1404G probably damaging Het
Muc4 A G 16: 32,575,011 (GRCm39) T1199A probably benign Het
Mycn A T 12: 12,990,045 (GRCm39) M117K possibly damaging Het
Nalcn A G 14: 123,532,818 (GRCm39) I1314T probably damaging Het
Nod1 T C 6: 54,910,561 (GRCm39) T869A probably benign Het
Or2y16 T C 11: 49,335,140 (GRCm39) V154A probably benign Het
Or4k39 C T 2: 111,238,818 (GRCm39) noncoding transcript Het
Plekhg2 A T 7: 28,067,064 (GRCm39) I356N probably damaging Het
Ptpru T A 4: 131,547,501 (GRCm39) Y112F possibly damaging Het
Rpl36al G A 12: 69,229,897 (GRCm39) P5L possibly damaging Het
Ryr2 A G 13: 11,774,722 (GRCm39) W1145R probably damaging Het
Semp2l2b T A 10: 21,942,742 (GRCm39) T413S possibly damaging Het
Slc11a2 A G 15: 100,301,169 (GRCm39) Y295H probably damaging Het
Slc22a6 A G 19: 8,599,148 (GRCm39) probably null Het
Styxl1 A G 5: 135,785,977 (GRCm39) probably null Het
Trpv4 A G 5: 114,772,617 (GRCm39) L371P probably damaging Het
Uqcc4 G A 17: 25,403,963 (GRCm39) S101N probably damaging Het
Usp8 A G 2: 126,584,345 (GRCm39) D518G probably benign Het
Washc4 T C 10: 83,405,892 (GRCm39) S463P probably damaging 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
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
R6354:Tmc6 UTSW 11 117,665,062 (GRCm39) missense probably benign 0.32
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'- GCGTGCTGTTACTGTAGTAGCC -3'
(R):5'- ACTGCTCTCAGGCCTGTATG -3'

Sequencing Primer
(F):5'- GTAATGCTGCGACCCTTTAATACAGC -3'
(R):5'- TCAGGCCTGTATGCTGCCAG -3'
Posted On 2016-11-09