Incidental Mutation 'R2360:Med25'
| ID |
247109 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Med25
|
| Ensembl Gene |
ENSMUSG00000002968 |
| Gene Name |
mediator complex subunit 25 |
| Synonyms |
ESTM2, 2610034E13Rik, 2610529E18Rik |
| MMRRC Submission |
040342-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2360 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44526189-44542136 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44534566 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 150
(S150P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146595
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003049]
[ENSMUST00000207278]
[ENSMUST00000207654]
[ENSMUST00000208551]
[ENSMUST00000208253]
[ENSMUST00000207788]
[ENSMUST00000208556]
[ENSMUST00000207848]
|
| AlphaFold |
Q8VCB2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003049
AA Change: S253P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000003049
Gene: ENSMUSG00000002968
AA Change: S253P
| Domain | Start | End | E-Value | Type |
|---|
|
VWA
|
15 |
178 |
6.55e0 |
SMART |
|
low complexity region
|
193 |
211 |
N/A |
INTRINSIC |
|
Pfam:Med25_SD1
|
228 |
383 |
5.8e-55 |
PFAM |
|
Pfam:Med25
|
396 |
546 |
3.9e-64 |
PFAM |
|
low complexity region
|
577 |
592 |
N/A |
INTRINSIC |
|
low complexity region
|
596 |
632 |
N/A |
INTRINSIC |
|
Pfam:Med25_NR-box
|
657 |
745 |
5.3e-43 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123130
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207196
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207206
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207278
AA Change: S150P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207490
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207654
AA Change: S330P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208551
AA Change: S253P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208253
AA Change: S253P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208552
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209191
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207788
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208556
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207848
|
| Meta Mutation Damage Score |
0.0711 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
93% (37/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the transcriptional coactivator complex termed the Mediator complex. This complex is required for transcription of most RNA polymerase II-dependent genes. The encoded protein plays a role in chromatin modification and in preinitiation complex assembly. Mutations in this gene are associated with Charcot-Marie-Tooth disease type 2B2. [provided by RefSeq, Apr 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
A |
T |
7: 29,274,214 (GRCm39) |
|
noncoding transcript |
Het |
| Abca14 |
A |
G |
7: 119,850,431 (GRCm39) |
E761G |
probably benign |
Het |
| Apc |
C |
T |
18: 34,394,179 (GRCm39) |
T35I |
probably damaging |
Het |
| Arhgef2 |
T |
A |
3: 88,541,723 (GRCm39) |
I228N |
probably damaging |
Het |
| Atp6v1g2 |
A |
G |
17: 35,456,638 (GRCm39) |
E74G |
probably damaging |
Het |
| Ccdc70 |
A |
G |
8: 22,463,447 (GRCm39) |
E79G |
probably damaging |
Het |
| Cdc42ep4 |
A |
G |
11: 113,619,528 (GRCm39) |
S288P |
probably damaging |
Het |
| Cip2a |
C |
T |
16: 48,837,828 (GRCm39) |
Q843* |
probably null |
Het |
| Cpn2 |
T |
C |
16: 30,078,321 (GRCm39) |
D460G |
probably benign |
Het |
| Crtam |
A |
G |
9: 40,884,811 (GRCm39) |
*393Q |
probably null |
Het |
| Cwc22 |
A |
G |
2: 77,757,591 (GRCm39) |
I179T |
probably damaging |
Het |
| Cyp3a41b |
T |
C |
5: 145,507,221 (GRCm39) |
M240V |
probably benign |
Het |
| Dnah8 |
A |
T |
17: 30,896,178 (GRCm39) |
D864V |
probably benign |
Het |
| Map3k7 |
T |
C |
4: 31,964,302 (GRCm39) |
S14P |
unknown |
Het |
| Mex3b |
T |
C |
7: 82,517,070 (GRCm39) |
V71A |
probably benign |
Het |
| Morc3 |
T |
C |
16: 93,638,275 (GRCm39) |
L19S |
probably damaging |
Het |
| Morn1 |
T |
A |
4: 155,176,770 (GRCm39) |
S98T |
probably damaging |
Het |
| Mthfd1l |
G |
T |
10: 4,006,771 (GRCm39) |
A678S |
probably damaging |
Het |
| Napa |
A |
G |
7: 15,848,083 (GRCm39) |
Y200C |
probably damaging |
Het |
| Nr5a2 |
T |
C |
1: 136,876,565 (GRCm39) |
I33V |
probably benign |
Het |
| Or14j6 |
A |
G |
17: 38,215,345 (GRCm39) |
K303E |
possibly damaging |
Het |
| Pcnx1 |
A |
G |
12: 81,996,960 (GRCm39) |
D952G |
probably damaging |
Het |
| Phf20l1 |
G |
A |
15: 66,466,769 (GRCm39) |
R66Q |
probably damaging |
Het |
| Resf1 |
A |
G |
6: 149,236,145 (GRCm39) |
I1488M |
probably benign |
Het |
| Rfk |
A |
G |
19: 17,375,960 (GRCm39) |
T85A |
probably benign |
Het |
| Sbno2 |
T |
C |
10: 79,893,855 (GRCm39) |
D1179G |
possibly damaging |
Het |
| Serpina3k |
C |
T |
12: 104,307,166 (GRCm39) |
Q133* |
probably null |
Het |
| Setd4 |
T |
C |
16: 93,383,122 (GRCm39) |
|
probably benign |
Het |
| Sh2d4b |
C |
T |
14: 40,582,548 (GRCm39) |
|
probably null |
Het |
| Slc1a6 |
G |
A |
10: 78,648,718 (GRCm39) |
V480I |
possibly damaging |
Het |
| Slc39a3 |
A |
T |
10: 80,867,104 (GRCm39) |
V214E |
possibly damaging |
Het |
| Tll1 |
A |
G |
8: 64,504,435 (GRCm39) |
Y654H |
probably damaging |
Het |
| Traf3ip1 |
T |
A |
1: 91,427,374 (GRCm39) |
C115S |
unknown |
Het |
| Vmn1r209 |
T |
A |
13: 22,989,836 (GRCm39) |
I285F |
probably damaging |
Het |
| Vmn2r87 |
G |
T |
10: 130,315,631 (GRCm39) |
T145K |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,394,388 (GRCm39) |
T4484A |
unknown |
Het |
| Zfp768 |
T |
C |
7: 126,943,810 (GRCm39) |
E106G |
probably benign |
Het |
| Zfp984 |
A |
G |
4: 147,839,234 (GRCm39) |
I539T |
possibly damaging |
Het |
|
| Other mutations in Med25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01452:Med25
|
APN |
7 |
44,532,255 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02963:Med25
|
APN |
7 |
44,541,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0102:Med25
|
UTSW |
7 |
44,534,904 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0167:Med25
|
UTSW |
7 |
44,532,521 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0302:Med25
|
UTSW |
7 |
44,529,982 (GRCm39) |
unclassified |
probably benign |
|
|
R0497:Med25
|
UTSW |
7 |
44,541,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0511:Med25
|
UTSW |
7 |
44,534,502 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1054:Med25
|
UTSW |
7 |
44,529,804 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1914:Med25
|
UTSW |
7 |
44,534,046 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2305:Med25
|
UTSW |
7 |
44,535,314 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3436:Med25
|
UTSW |
7 |
44,535,314 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4736:Med25
|
UTSW |
7 |
44,541,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4807:Med25
|
UTSW |
7 |
44,534,043 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4945:Med25
|
UTSW |
7 |
44,532,526 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5494:Med25
|
UTSW |
7 |
44,535,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7037:Med25
|
UTSW |
7 |
44,532,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7078:Med25
|
UTSW |
7 |
44,534,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7411:Med25
|
UTSW |
7 |
44,527,667 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7542:Med25
|
UTSW |
7 |
44,541,215 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7883:Med25
|
UTSW |
7 |
44,541,232 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9541:Med25
|
UTSW |
7 |
44,541,267 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9696:Med25
|
UTSW |
7 |
44,529,524 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAGACCATGTGCCCCTAG -3'
(R):5'- CCTGGGTACTGTACGCTAAAG -3'
Sequencing Primer
(F):5'- ATGTGCCCCTAGAACTATGTAC -3'
(R):5'- GGTTCCTTTTCAGTACTCTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation