Incidental Mutation 'R2908:Tmem18'
| ID |
261111 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem18
|
| Ensembl Gene |
ENSMUSG00000043061 |
| Gene Name |
transmembrane protein 18 |
| Synonyms |
|
| MMRRC Submission |
040495-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2908 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
30634442-30641218 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 30637252 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 78
(R78*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050729
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057151]
|
| AlphaFold |
Q3TUD9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000057151
AA Change: R78*
|
| SMART Domains |
Protein: ENSMUSP00000050729
Gene: ENSMUSG00000043061
AA Change: R78*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM18
|
14 |
133 |
5.7e-49 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218826
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a male-specific increase in body weight, fat mass and lean mass whether fed standard chow or a high-fat diet, increased suseptibility to diet-induced obesity, increased energy expenditure and increased food intake. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb1 |
A |
G |
10: 77,149,237 (GRCm39) |
|
probably null |
Het |
| Ap1b1 |
T |
A |
11: 4,981,641 (GRCm39) |
N516K |
probably damaging |
Het |
| Atp1a4 |
A |
G |
1: 172,062,044 (GRCm39) |
Y694H |
probably benign |
Het |
| Bhlha9 |
T |
C |
11: 76,563,433 (GRCm39) |
V20A |
probably benign |
Het |
| Ccl28 |
C |
A |
13: 120,112,398 (GRCm39) |
|
probably null |
Het |
| Cdk14 |
T |
C |
5: 5,299,051 (GRCm39) |
I55V |
probably benign |
Het |
| Cit |
C |
A |
5: 116,119,735 (GRCm39) |
D1246E |
probably benign |
Het |
| Clp1 |
A |
G |
2: 84,554,488 (GRCm39) |
V227A |
possibly damaging |
Het |
| Dhx29 |
T |
C |
13: 113,064,385 (GRCm39) |
V20A |
possibly damaging |
Het |
| Lima1 |
C |
T |
15: 99,699,991 (GRCm39) |
|
probably null |
Het |
| Lyst |
A |
G |
13: 13,844,458 (GRCm39) |
I1883V |
probably benign |
Het |
| Myh1 |
C |
T |
11: 67,111,522 (GRCm39) |
Q1654* |
probably null |
Het |
| Or5d46 |
T |
C |
2: 88,170,827 (GRCm39) |
I306T |
probably benign |
Het |
| Pbx3 |
G |
T |
2: 34,062,933 (GRCm39) |
T422K |
probably damaging |
Het |
| Plekhg4 |
T |
C |
8: 106,107,493 (GRCm39) |
L1008P |
probably damaging |
Het |
| Rbm26 |
T |
A |
14: 105,380,270 (GRCm39) |
T516S |
probably benign |
Het |
| Slc25a40 |
C |
T |
5: 8,477,505 (GRCm39) |
T30I |
probably damaging |
Het |
| Spata31d1c |
A |
T |
13: 65,181,005 (GRCm39) |
I35F |
possibly damaging |
Het |
| Uggt2 |
C |
T |
14: 119,256,919 (GRCm39) |
S1105N |
probably benign |
Het |
| Zfp53 |
C |
A |
17: 21,728,736 (GRCm39) |
C256* |
probably null |
Het |
|
| Other mutations in Tmem18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00770:Tmem18
|
APN |
12 |
30,638,720 (GRCm39) |
missense |
unknown |
|
|
IGL00774:Tmem18
|
APN |
12 |
30,638,720 (GRCm39) |
missense |
unknown |
|
|
IGL02748:Tmem18
|
APN |
12 |
30,638,744 (GRCm39) |
makesense |
probably null |
|
|
R1557:Tmem18
|
UTSW |
12 |
30,637,198 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7053:Tmem18
|
UTSW |
12 |
30,634,506 (GRCm39) |
start codon destroyed |
probably null |
0.85 |
|
R7199:Tmem18
|
UTSW |
12 |
30,638,654 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8322:Tmem18
|
UTSW |
12 |
30,638,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9542:Tmem18
|
UTSW |
12 |
30,638,557 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCATGTCACAGATGTGTTG -3'
(R):5'- TCTTAAGGCCTAACCCCATATG -3'
Sequencing Primer
(F):5'- ACTTGACAATTTTAGAGTCCTTACC -3'
(R):5'- GGCCTAACCCCATATGTATAGGCTG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation