Incidental Mutation 'IGL00763:Tmc6'
| ID |
14478 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmc6
|
| Ensembl Gene |
ENSMUSG00000025572 |
| Gene Name |
transmembrane channel-like gene family 6 |
| Synonyms |
D11Ertd204e, EVER1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00763
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
117765988-117782198 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 117779046 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 20
(L20P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118068
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026659]
[ENSMUST00000050874]
[ENSMUST00000103025]
[ENSMUST00000106334]
[ENSMUST00000117781]
[ENSMUST00000119455]
[ENSMUST00000127080]
[ENSMUST00000127227]
[ENSMUST00000131606]
[ENSMUST00000136729]
[ENSMUST00000143406]
[ENSMUST00000152304]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026659
AA Change: L20P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000026659
Gene: ENSMUSG00000025572
AA Change: L20P
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000050874
|
| SMART Domains |
Protein: ENSMUSP00000051878
Gene: ENSMUSG00000050106
| Domain | Start | End | E-Value | Type |
|---|
|
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 benign
Transcript: ENSMUST00000103025
AA Change: L20P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000099314
Gene: ENSMUSG00000025572
AA Change: L20P
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000106334
|
| SMART Domains |
Protein: ENSMUSP00000101941
Gene: ENSMUSG00000050106
| Domain | Start | End | E-Value | Type |
|---|
|
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 benign
Transcript: ENSMUST00000117781
|
| SMART Domains |
Protein: ENSMUSP00000113570
Gene: ENSMUSG00000050106
| Domain | Start | End | E-Value | Type |
|---|
|
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 benign
Transcript: ENSMUST00000119455
|
| SMART Domains |
Protein: ENSMUSP00000113628
Gene: ENSMUSG00000050106
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
probably benign
Transcript: ENSMUST00000127080
|
| SMART Domains |
Protein: ENSMUSP00000115270
Gene: ENSMUSG00000050106
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
120 |
142 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127227
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131606
|
| SMART Domains |
Protein: ENSMUSP00000123264
Gene: ENSMUSG00000025572
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
68 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136729
AA Change: L20P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000118068
Gene: ENSMUSG00000025572
AA Change: L20P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
58 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143406
AA Change: L20P
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000117566
Gene: ENSMUSG00000025572
AA Change: L20P
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
possibly damaging
Transcript: ENSMUST00000152304
AA Change: L20P
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155505
|
| 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 10 transmembrane domains and 2 leucine zipper motifs. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210407C18Rik |
T |
G |
11: 58,612,881 |
|
probably benign |
Het |
| Bmp3 |
A |
C |
5: 98,872,379 |
R220S |
possibly damaging |
Het |
| Bms1 |
A |
G |
6: 118,418,402 |
|
probably benign |
Het |
| Ccdc138 |
T |
A |
10: 58,575,715 |
F635Y |
probably damaging |
Het |
| Ccdc81 |
T |
C |
7: 89,869,615 |
|
probably benign |
Het |
| Cntnap5a |
T |
C |
1: 116,117,677 |
I341T |
possibly damaging |
Het |
| Cog5 |
C |
T |
12: 31,665,532 |
|
probably benign |
Het |
| Dcaf4 |
G |
A |
12: 83,539,333 |
R358H |
probably damaging |
Het |
| Ddx10 |
A |
C |
9: 53,160,026 |
|
probably benign |
Het |
| Fgf15 |
T |
A |
7: 144,899,892 |
F201I |
probably damaging |
Het |
| Galp |
A |
G |
7: 6,208,500 |
Y40C |
probably damaging |
Het |
| Ints6 |
A |
G |
14: 62,700,865 |
|
probably benign |
Het |
| Iqcb1 |
A |
T |
16: 36,856,287 |
|
probably benign |
Het |
| Kif19a |
G |
A |
11: 114,767,168 |
V18I |
probably benign |
Het |
| Morc1 |
A |
C |
16: 48,612,326 |
Q719P |
probably damaging |
Het |
| Pla2g4a |
T |
C |
1: 149,851,325 |
D568G |
probably damaging |
Het |
| Plscr4 |
A |
G |
9: 92,484,945 |
E204G |
probably null |
Het |
| Rasgrf1 |
A |
G |
9: 89,971,020 |
T403A |
probably benign |
Het |
| Sec16b |
A |
G |
1: 157,529,257 |
T12A |
probably benign |
Het |
| Slc12a7 |
A |
T |
13: 73,794,082 |
N359I |
possibly damaging |
Het |
| Slc14a2 |
G |
T |
18: 78,192,238 |
D241E |
probably damaging |
Het |
| Slc23a2 |
G |
T |
2: 132,101,500 |
A27E |
probably benign |
Het |
| Slc38a8 |
T |
C |
8: 119,494,219 |
I200M |
probably benign |
Het |
| Thrap3 |
C |
T |
4: 126,165,578 |
G892S |
probably benign |
Het |
| Tnfsfm13 |
T |
C |
11: 69,684,710 |
D256G |
probably benign |
Het |
| Tonsl |
C |
T |
15: 76,633,868 |
A605T |
probably damaging |
Het |
| Usp28 |
A |
G |
9: 49,028,163 |
T240A |
probably benign |
Het |
| Zap70 |
A |
T |
1: 36,779,252 |
D340V |
possibly damaging |
Het |
| Zfp512b |
A |
T |
2: 181,590,151 |
F100I |
probably damaging |
Het |
|
| Other mutations in Tmc6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02637:Tmc6
|
APN |
11 |
117767590 |
missense |
possibly damaging |
0.94 |
|
PIT4520001:Tmc6
|
UTSW |
11 |
117772730 |
missense |
possibly damaging |
0.55 |
|
R0140:Tmc6
|
UTSW |
11 |
117766251 |
unclassified |
probably benign |
|
|
R0149:Tmc6
|
UTSW |
11 |
117769448 |
missense |
probably damaging |
1.00 |
|
R0437:Tmc6
|
UTSW |
11 |
117778261 |
missense |
possibly damaging |
0.88 |
|
R1566:Tmc6
|
UTSW |
11 |
117769436 |
missense |
probably damaging |
0.99 |
|
R2011:Tmc6
|
UTSW |
11 |
117769406 |
missense |
probably damaging |
1.00 |
|
R2012:Tmc6
|
UTSW |
11 |
117769406 |
missense |
probably damaging |
1.00 |
|
R2169:Tmc6
|
UTSW |
11 |
117769106 |
missense |
probably damaging |
1.00 |
|
R2568:Tmc6
|
UTSW |
11 |
117772820 |
missense |
probably benign |
0.08 |
|
R3853:Tmc6
|
UTSW |
11 |
117773058 |
nonsense |
probably null |
|
|
R4049:Tmc6
|
UTSW |
11 |
117778261 |
missense |
possibly damaging |
0.88 |
|
R4655:Tmc6
|
UTSW |
11 |
117773042 |
missense |
possibly damaging |
0.62 |
|
R4708:Tmc6
|
UTSW |
11 |
117768948 |
missense |
probably benign |
0.00 |
|
R5001:Tmc6
|
UTSW |
11 |
117770784 |
missense |
probably benign |
0.28 |
|
R5115:Tmc6
|
UTSW |
11 |
117775188 |
missense |
probably damaging |
0.98 |
|
R5551:Tmc6
|
UTSW |
11 |
117769445 |
missense |
probably damaging |
1.00 |
|
R5667:Tmc6
|
UTSW |
11 |
117775615 |
missense |
possibly damaging |
0.87 |
|
R5671:Tmc6
|
UTSW |
11 |
117775615 |
missense |
possibly damaging |
0.87 |
|
R5763:Tmc6
|
UTSW |
11 |
117769433 |
missense |
possibly damaging |
0.90 |
|
R6137:Tmc6
|
UTSW |
11 |
117776328 |
missense |
probably damaging |
1.00 |
|
R6354:Tmc6
|
UTSW |
11 |
117774236 |
missense |
probably benign |
0.32 |
|
R6418:Tmc6
|
UTSW |
11 |
117770500 |
missense |
probably damaging |
0.99 |
|
R6868:Tmc6
|
UTSW |
11 |
117774317 |
missense |
probably benign |
0.01 |
|
R7006:Tmc6
|
UTSW |
11 |
117774257 |
missense |
probably damaging |
0.96 |
|
R7208:Tmc6
|
UTSW |
11 |
117776325 |
missense |
probably benign |
0.41 |
|
R7210:Tmc6
|
UTSW |
11 |
117775844 |
missense |
possibly damaging |
0.59 |
|
R7633:Tmc6
|
UTSW |
11 |
117769220 |
missense |
probably benign |
|
|
R8802:Tmc6
|
UTSW |
11 |
117775075 |
missense |
possibly damaging |
0.81 |
|
R8959:Tmc6
|
UTSW |
11 |
117770467 |
critical splice donor site |
probably null |
|
|
R9002:Tmc6
|
UTSW |
11 |
117770482 |
missense |
probably damaging |
1.00 |
|
R9621:Tmc6
|
UTSW |
11 |
117779169 |
missense |
probably benign |
0.00 |
|
Z1177:Tmc6
|
UTSW |
11 |
117778747 |
missense |
probably damaging |
0.98 |
|
| Posted On |
2012-12-06 |
Incidental Mutation