Incidental Mutation 'R2425:Tmc8'
| ID |
250162 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmc8
|
| Ensembl Gene |
ENSMUSG00000050106 |
| Gene Name |
transmembrane channel-like gene family 8 |
| Synonyms |
Ever2, EVIN2 |
| MMRRC Submission |
040387-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R2425 (G1)
|
| Quality Score |
216 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
117672902-117683936 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 117683395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 650
(D650G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113628
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050874]
[ENSMUST00000106334]
[ENSMUST00000117781]
[ENSMUST00000119455]
|
| AlphaFold |
Q7TN58 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050874
AA Change: D649G
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000051878
Gene: ENSMUSG00000050106
AA Change: D649G
| 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 damaging
Transcript: ENSMUST00000106334
AA Change: D650G
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000101941
Gene: ENSMUSG00000050106
AA Change: D650G
| 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 |
possibly damaging
Transcript: ENSMUST00000117781
AA Change: D649G
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113570
Gene: ENSMUSG00000050106
AA Change: D649G
| 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 damaging
Transcript: ENSMUST00000119455
AA Change: D650G
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113628
Gene: ENSMUSG00000050106
AA Change: D650G
| 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 |
noncoding transcript
Transcript: ENSMUST00000125577
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156458
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.5%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
C |
7: 119,959,033 (GRCm39) |
F621S |
probably damaging |
Het |
| Abcc10 |
A |
G |
17: 46,621,083 (GRCm39) |
Y976H |
probably damaging |
Het |
| Abhd6 |
T |
A |
14: 8,049,857 (GRCm38) |
N215K |
probably benign |
Het |
| Adcy4 |
T |
C |
14: 56,015,474 (GRCm39) |
T479A |
probably damaging |
Het |
| Amacr |
A |
G |
15: 10,983,454 (GRCm39) |
Q88R |
possibly damaging |
Het |
| Ankrd11 |
T |
A |
8: 123,619,902 (GRCm39) |
I1317F |
possibly damaging |
Het |
| Ano3 |
C |
A |
2: 110,693,188 (GRCm39) |
A137S |
probably benign |
Het |
| Astn1 |
T |
G |
1: 158,407,236 (GRCm39) |
S562A |
probably damaging |
Het |
| Cd44 |
T |
A |
2: 102,691,931 (GRCm39) |
Y119F |
probably damaging |
Het |
| CN725425 |
A |
C |
15: 91,130,058 (GRCm39) |
D307A |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,585,648 (GRCm39) |
Y1243C |
probably damaging |
Het |
| Cyp2c50 |
T |
C |
19: 40,078,292 (GRCm39) |
I50T |
probably benign |
Het |
| Dhrs9 |
A |
G |
2: 69,223,308 (GRCm39) |
K19E |
probably benign |
Het |
| Dnajb14 |
T |
G |
3: 137,598,666 (GRCm39) |
F135V |
probably null |
Het |
| Draxin |
T |
A |
4: 148,197,213 (GRCm39) |
T195S |
possibly damaging |
Het |
| Elane |
C |
T |
10: 79,723,610 (GRCm39) |
R192C |
probably benign |
Het |
| Fam171a2 |
A |
C |
11: 102,329,187 (GRCm39) |
I524S |
possibly damaging |
Het |
| Fbxo10 |
C |
T |
4: 45,051,642 (GRCm39) |
E490K |
possibly damaging |
Het |
| Fkbp15 |
T |
C |
4: 62,230,602 (GRCm39) |
T704A |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 8,023,850 (GRCm39) |
D35V |
probably damaging |
Het |
| Galntl5 |
A |
G |
5: 25,425,079 (GRCm39) |
K366E |
probably damaging |
Het |
| Gas7 |
G |
A |
11: 67,534,121 (GRCm39) |
A74T |
probably benign |
Het |
| Gjd4 |
G |
T |
18: 9,280,811 (GRCm39) |
S89* |
probably null |
Het |
| Gldc |
T |
A |
19: 30,109,190 (GRCm39) |
N583Y |
probably damaging |
Het |
| Gpr161 |
T |
A |
1: 165,138,192 (GRCm39) |
S259R |
possibly damaging |
Het |
| Igfn1 |
T |
A |
1: 135,890,840 (GRCm39) |
T2387S |
probably damaging |
Het |
| Il3 |
A |
T |
11: 54,156,375 (GRCm39) |
V119D |
possibly damaging |
Het |
| Ints3 |
T |
C |
3: 90,301,417 (GRCm39) |
T822A |
possibly damaging |
Het |
| Jakmip1 |
C |
T |
5: 37,299,149 (GRCm39) |
Q790* |
probably null |
Het |
| Kcne1 |
A |
G |
16: 92,145,646 (GRCm39) |
I66T |
probably damaging |
Het |
| Nipbl |
A |
G |
15: 8,380,966 (GRCm39) |
S609P |
probably benign |
Het |
| Or10d5 |
T |
C |
9: 39,861,137 (GRCm39) |
E310G |
probably null |
Het |
| Or2t48 |
A |
G |
11: 58,420,137 (GRCm39) |
I225T |
probably damaging |
Het |
| Or8k21 |
A |
G |
2: 86,144,739 (GRCm39) |
V297A |
probably damaging |
Het |
| Pdxdc1 |
A |
T |
16: 13,697,372 (GRCm39) |
S103T |
possibly damaging |
Het |
| Pla2g2a |
C |
A |
4: 138,560,229 (GRCm39) |
A24E |
possibly damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pramel1 |
T |
G |
4: 143,125,036 (GRCm39) |
L320R |
probably damaging |
Het |
| Rad23b |
T |
A |
4: 55,385,438 (GRCm39) |
I325N |
probably damaging |
Het |
| Rasgrp1 |
C |
G |
2: 117,119,931 (GRCm39) |
|
probably null |
Het |
| Rbm12b1 |
T |
A |
4: 12,146,443 (GRCm39) |
I805N |
probably damaging |
Het |
| Shld2 |
A |
G |
14: 33,990,646 (GRCm39) |
S87P |
probably damaging |
Het |
| Slc12a9 |
G |
T |
5: 137,313,859 (GRCm39) |
A700E |
probably damaging |
Het |
| Tbc1d24 |
A |
T |
17: 24,404,982 (GRCm39) |
V54E |
probably damaging |
Het |
| Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,270,001 (GRCm39) |
N1749K |
possibly damaging |
Het |
| Usp42 |
T |
C |
5: 143,701,594 (GRCm39) |
T810A |
probably benign |
Het |
| Wdr70 |
C |
A |
15: 7,916,840 (GRCm39) |
E526* |
probably null |
Het |
| Zfp935 |
G |
T |
13: 62,602,922 (GRCm39) |
Q93K |
probably benign |
Het |
|
| Other mutations in Tmc8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00913:Tmc8
|
APN |
11 |
117,677,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01098:Tmc8
|
APN |
11 |
117,683,389 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL01403:Tmc8
|
APN |
11 |
117,681,900 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01526:Tmc8
|
APN |
11 |
117,682,910 (GRCm39) |
splice site |
probably benign |
|
|
IGL02045:Tmc8
|
APN |
11 |
117,677,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02138:Tmc8
|
APN |
11 |
117,682,081 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02581:Tmc8
|
APN |
11 |
117,674,714 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02685:Tmc8
|
APN |
11 |
117,683,400 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0241:Tmc8
|
UTSW |
11 |
117,677,207 (GRCm39) |
unclassified |
probably benign |
|
|
R0485:Tmc8
|
UTSW |
11 |
117,682,904 (GRCm39) |
splice site |
probably benign |
|
|
R1168:Tmc8
|
UTSW |
11 |
117,683,389 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1701:Tmc8
|
UTSW |
11 |
117,682,188 (GRCm39) |
splice site |
probably null |
|
|
R2509:Tmc8
|
UTSW |
11 |
117,683,511 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4747:Tmc8
|
UTSW |
11 |
117,683,550 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4783:Tmc8
|
UTSW |
11 |
117,682,431 (GRCm39) |
splice site |
probably null |
|
|
R5821:Tmc8
|
UTSW |
11 |
117,683,455 (GRCm39) |
nonsense |
probably null |
|
|
R5923:Tmc8
|
UTSW |
11 |
117,674,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6381:Tmc8
|
UTSW |
11 |
117,682,426 (GRCm39) |
missense |
probably null |
0.73 |
|
R6712:Tmc8
|
UTSW |
11 |
117,675,639 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7351:Tmc8
|
UTSW |
11 |
117,674,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7493:Tmc8
|
UTSW |
11 |
117,675,758 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7818:Tmc8
|
UTSW |
11 |
117,682,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8190:Tmc8
|
UTSW |
11 |
117,682,186 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8699:Tmc8
|
UTSW |
11 |
117,674,361 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8780:Tmc8
|
UTSW |
11 |
117,681,558 (GRCm39) |
frame shift |
probably null |
|
|
R9768:Tmc8
|
UTSW |
11 |
117,676,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF021:Tmc8
|
UTSW |
11 |
117,674,060 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Tmc8
|
UTSW |
11 |
117,677,235 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGATGCTTCCTGGTCATAGG -3'
(R):5'- CAGAGATTGTGGGCCTAAGG -3'
Sequencing Primer
(F):5'- CCTGGTCATAGGTTAGGGGC -3'
(R):5'- TCGGTGCTACAGCTCTGTGC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation