Incidental Mutation 'R3019:Med18'
| ID |
257704 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Med18
|
| Ensembl Gene |
ENSMUSG00000066042 |
| Gene Name |
mediator complex subunit 18 |
| Synonyms |
2810046C01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
R3019 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
132186042-132191232 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 132187128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 124
(R124C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099627
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102567]
[ENSMUST00000123604]
|
| AlphaFold |
Q9CZ82 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102567
AA Change: R124C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099627
Gene: ENSMUSG00000066042
AA Change: R124C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med18
|
19 |
80 |
1.7e-12 |
PFAM |
|
Pfam:Med18
|
61 |
207 |
2.3e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123604
|
| SMART Domains |
Protein: ENSMUSP00000120535
Gene: ENSMUSG00000066042
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med18
|
64 |
122 |
9.2e-14 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MED18 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM, Oct 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atr |
C |
A |
9: 95,787,871 (GRCm39) |
A1488E |
possibly damaging |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Birc2 |
C |
T |
9: 7,857,390 (GRCm39) |
|
probably null |
Het |
| Cntnap5a |
T |
C |
1: 116,029,299 (GRCm39) |
L251P |
probably benign |
Het |
| Fryl |
G |
T |
5: 73,240,193 (GRCm39) |
H1406N |
probably benign |
Het |
| Heatr6 |
T |
A |
11: 83,669,658 (GRCm39) |
|
probably null |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Lamb3 |
T |
C |
1: 193,013,717 (GRCm39) |
|
probably null |
Het |
| Lhx5 |
G |
T |
5: 120,578,070 (GRCm39) |
A297S |
probably benign |
Het |
| Synpo2 |
A |
G |
3: 122,907,228 (GRCm39) |
V696A |
probably damaging |
Het |
| Tgfbr3 |
C |
A |
5: 107,285,412 (GRCm39) |
R563L |
possibly damaging |
Het |
| Tm6sf1 |
A |
G |
7: 81,525,813 (GRCm39) |
T207A |
probably benign |
Het |
| Vmn1r56 |
C |
A |
7: 5,199,061 (GRCm39) |
M185I |
probably benign |
Het |
| Vmn1r64 |
A |
G |
7: 5,887,226 (GRCm39) |
S106P |
probably damaging |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Med18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01304:Med18
|
APN |
4 |
132,186,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02103:Med18
|
APN |
4 |
132,186,977 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02983:Med18
|
APN |
4 |
132,186,997 (GRCm39) |
nonsense |
probably null |
|
|
IGL03031:Med18
|
APN |
4 |
132,186,924 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0238:Med18
|
UTSW |
4 |
132,187,337 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0238:Med18
|
UTSW |
4 |
132,187,337 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1737:Med18
|
UTSW |
4 |
132,187,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1894:Med18
|
UTSW |
4 |
132,187,242 (GRCm39) |
nonsense |
probably null |
|
|
R2696:Med18
|
UTSW |
4 |
132,187,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2900:Med18
|
UTSW |
4 |
132,187,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3017:Med18
|
UTSW |
4 |
132,187,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3980:Med18
|
UTSW |
4 |
132,190,251 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4648:Med18
|
UTSW |
4 |
132,190,274 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5330:Med18
|
UTSW |
4 |
132,190,377 (GRCm39) |
intron |
probably benign |
|
|
R6049:Med18
|
UTSW |
4 |
132,187,024 (GRCm39) |
missense |
probably benign |
|
|
R6694:Med18
|
UTSW |
4 |
132,187,293 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6931:Med18
|
UTSW |
4 |
132,187,194 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7556:Med18
|
UTSW |
4 |
132,187,247 (GRCm39) |
missense |
probably benign |
0.35 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGTCATCAGAGACCATGTCC -3'
(R):5'- TCACGAGATGGTCTTCCTGC -3'
Sequencing Primer
(F):5'- AGAGACCATGTCCTGCCCAG -3'
(R):5'- CACGAGATGGTCTTCCTGCTTAAG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation