Incidental Mutation 'R5115:Tmc6'
| ID |
394159 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmc6
|
| Ensembl Gene |
ENSMUSG00000025572 |
| Gene Name |
transmembrane channel-like gene family 6 |
| Synonyms |
EVER1, D11Ertd204e |
| MMRRC Submission |
042703-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5115 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
117656811-117673019 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 117666014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 300
(T300I)
|
| 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 damaging
Transcript: ENSMUST00000026659
AA Change: T300I
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000026659
Gene: ENSMUSG00000025572
AA Change: T300I
| 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: ENSMUST00000103025
|
| SMART Domains |
Protein: ENSMUSP00000099314
Gene: ENSMUSG00000025572
| 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: 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 benign
Transcript: ENSMUST00000136729
|
| SMART Domains |
Protein: ENSMUSP00000118068
Gene: ENSMUSG00000025572
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
58 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143406
|
| SMART Domains |
Protein: ENSMUSP00000117566
Gene: ENSMUSG00000025572
| 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 |
probably benign
Transcript: ENSMUST00000149589
|
| SMART Domains |
Protein: ENSMUSP00000116521
Gene: ENSMUSG00000025572
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMC
|
61 |
108 |
1.3e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152304
|
| Meta Mutation Damage Score |
0.1293 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.2%
|
| Validation Efficiency |
100% (47/47) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
C |
T |
11: 54,231,324 (GRCm39) |
|
probably null |
Het |
| Asic1 |
C |
T |
15: 99,569,933 (GRCm39) |
L85F |
probably damaging |
Het |
| Atic |
G |
A |
1: 71,596,434 (GRCm39) |
|
probably null |
Het |
| Atp1b2 |
T |
C |
11: 69,494,299 (GRCm39) |
T65A |
probably damaging |
Het |
| C2cd6 |
T |
A |
1: 59,090,420 (GRCm39) |
I446L |
probably benign |
Het |
| Cep83 |
A |
G |
10: 94,604,751 (GRCm39) |
H488R |
probably benign |
Het |
| Cwc15 |
A |
G |
9: 14,419,192 (GRCm39) |
I163V |
probably benign |
Het |
| Cyp11b2 |
A |
T |
15: 74,727,277 (GRCm39) |
|
probably null |
Het |
| Fat2 |
A |
G |
11: 55,187,159 (GRCm39) |
V1229A |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,174,303 (GRCm39) |
D1851G |
probably damaging |
Het |
| Golga7 |
A |
T |
8: 23,735,986 (GRCm39) |
|
probably null |
Het |
| Gsdmc2 |
A |
T |
15: 63,699,617 (GRCm39) |
H270Q |
probably benign |
Het |
| Kdm4a |
G |
T |
4: 118,019,778 (GRCm39) |
P326Q |
possibly damaging |
Het |
| Kng1 |
G |
A |
16: 22,888,032 (GRCm39) |
R209H |
possibly damaging |
Het |
| Mfn1 |
T |
C |
3: 32,618,456 (GRCm39) |
|
probably null |
Het |
| Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
| Nlrc5 |
G |
A |
8: 95,203,447 (GRCm39) |
V516I |
possibly damaging |
Het |
| Nrbp1 |
T |
G |
5: 31,401,059 (GRCm39) |
Y96* |
probably null |
Het |
| Papola |
T |
C |
12: 105,793,219 (GRCm39) |
V513A |
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,263,276 (GRCm39) |
|
probably benign |
Het |
| Plin1 |
AGGCCACCAGGGGGTGGGC |
AGGC |
7: 79,379,692 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,608,444 (GRCm39) |
Q3082R |
probably benign |
Het |
| Rbfox1 |
A |
G |
16: 7,227,636 (GRCm39) |
S405G |
probably damaging |
Het |
| Recql |
T |
C |
6: 142,304,285 (GRCm39) |
|
probably benign |
Het |
| Serpina3c |
T |
C |
12: 104,113,651 (GRCm39) |
E365G |
probably damaging |
Het |
| Slc17a5 |
A |
G |
9: 78,484,394 (GRCm39) |
V122A |
probably benign |
Het |
| Sprr2b |
G |
T |
3: 92,224,862 (GRCm39) |
C36F |
unknown |
Het |
| Stk36 |
T |
C |
1: 74,674,986 (GRCm39) |
I1307T |
probably damaging |
Het |
| Ttll9 |
C |
A |
2: 152,831,510 (GRCm39) |
|
probably benign |
Het |
| Vmn1r71 |
T |
A |
7: 10,481,885 (GRCm39) |
M202L |
probably benign |
Het |
| Zfp276 |
A |
G |
8: 123,991,716 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tmc6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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'- TACCTGTATACCAGAATGATGCAGG -3'
(R):5'- CTTCTGGAGGCCCAAGAATG -3'
Sequencing Primer
(F):5'- TGTATACCAGAATGATGCAGGTAAGG -3'
(R):5'- CCATTTGGGGTCTGAATACAGTATCC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation