Incidental Mutation 'R3436:Med25'
| ID |
267188 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Med25
|
| Ensembl Gene |
ENSMUSG00000002968 |
| Gene Name |
mediator complex subunit 25 |
| Synonyms |
ESTM2, 2610034E13Rik, 2610529E18Rik |
| MMRRC Submission |
040654-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3436 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44526189-44542136 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 44535314 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 37
(R37L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146595
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003049]
[ENSMUST00000207278]
[ENSMUST00000207654]
[ENSMUST00000208253]
[ENSMUST00000208551]
[ENSMUST00000208556]
[ENSMUST00000207848]
[ENSMUST00000207788]
|
| AlphaFold |
Q8VCB2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003049
AA Change: R140L
PolyPhen 2
Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000003049
Gene: ENSMUSG00000002968
AA Change: R140L
| 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 |
possibly damaging
Transcript: ENSMUST00000207278
AA Change: R37L
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000207490
AA Change: R127L
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207654
AA Change: R217L
PolyPhen 2
Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208253
AA Change: R140L
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208551
AA Change: R140L
PolyPhen 2
Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208556
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207848
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207788
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208552
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209191
|
| Meta Mutation Damage Score |
0.4532 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (40/40) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ambp |
T |
C |
4: 63,067,721 (GRCm39) |
E163G |
probably benign |
Het |
| Angptl3 |
A |
T |
4: 98,921,540 (GRCm39) |
K219N |
probably benign |
Het |
| Atp6v1g1 |
A |
G |
4: 63,468,255 (GRCm39) |
N86S |
probably benign |
Het |
| Cadps |
A |
T |
14: 12,616,158 (GRCm38) |
|
probably null |
Het |
| Ccdc146 |
A |
G |
5: 21,502,003 (GRCm39) |
S804P |
possibly damaging |
Het |
| Cdc20b |
T |
C |
13: 113,215,233 (GRCm39) |
I267T |
probably damaging |
Het |
| Cdh8 |
A |
G |
8: 100,127,350 (GRCm39) |
|
probably benign |
Het |
| Dse |
G |
T |
10: 34,028,470 (GRCm39) |
N873K |
probably benign |
Het |
| Ehd1 |
G |
T |
19: 6,327,044 (GRCm39) |
E14* |
probably null |
Het |
| F8 |
A |
G |
X: 74,311,030 (GRCm39) |
|
probably benign |
Het |
| Flnb |
T |
C |
14: 7,942,057 (GRCm38) |
V2345A |
probably damaging |
Het |
| Fndc1 |
T |
C |
17: 7,969,189 (GRCm39) |
K1559E |
probably damaging |
Het |
| Ighg1 |
T |
C |
12: 113,293,180 (GRCm39) |
E170G |
probably damaging |
Het |
| Kmt2b |
G |
T |
7: 30,276,117 (GRCm39) |
P1794Q |
probably damaging |
Het |
| Lama2 |
C |
T |
10: 26,877,231 (GRCm39) |
E2652K |
probably benign |
Het |
| Optc |
T |
C |
1: 133,825,617 (GRCm39) |
D303G |
probably damaging |
Het |
| Or2n1d |
A |
G |
17: 38,646,323 (GRCm39) |
I92V |
probably damaging |
Het |
| Or2n1e |
G |
A |
17: 38,586,421 (GRCm39) |
G253D |
probably damaging |
Het |
| Or4c102 |
T |
A |
2: 88,422,448 (GRCm39) |
F100Y |
probably damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,767,478 (GRCm39) |
N1271D |
probably benign |
Het |
| Plpp2 |
A |
T |
10: 79,363,647 (GRCm39) |
|
probably null |
Het |
| Polq |
A |
T |
16: 36,882,699 (GRCm39) |
N1342I |
probably damaging |
Het |
| Prr16 |
A |
G |
18: 51,436,195 (GRCm39) |
N225D |
probably benign |
Het |
| Pwwp2a |
C |
T |
11: 43,597,015 (GRCm39) |
Q452* |
probably null |
Het |
| Slfn2 |
A |
T |
11: 82,960,390 (GRCm39) |
H123L |
probably benign |
Het |
| Sort1 |
T |
A |
3: 108,245,123 (GRCm39) |
I325N |
probably damaging |
Het |
| Tmem132e |
A |
G |
11: 82,335,156 (GRCm39) |
Y654C |
probably damaging |
Het |
| Tmprss11b |
A |
T |
5: 86,815,443 (GRCm39) |
Y48* |
probably null |
Het |
| Tpp2 |
T |
C |
1: 43,979,304 (GRCm39) |
I67T |
probably damaging |
Het |
| Trdn |
G |
A |
10: 33,344,191 (GRCm39) |
|
probably null |
Het |
| Trim14 |
C |
T |
4: 46,523,739 (GRCm39) |
V100I |
possibly damaging |
Het |
| Trim17 |
T |
C |
11: 58,856,059 (GRCm39) |
C39R |
probably damaging |
Het |
| Trim52 |
C |
T |
14: 106,344,741 (GRCm39) |
P133L |
possibly damaging |
Het |
| Unc13b |
T |
C |
4: 43,097,028 (GRCm39) |
|
probably benign |
Het |
| Vmn2r94 |
G |
A |
17: 18,478,650 (GRCm39) |
|
probably benign |
Het |
| Vsig4 |
A |
G |
X: 95,334,422 (GRCm39) |
V29A |
probably benign |
Het |
| Washc4 |
T |
A |
10: 83,405,866 (GRCm39) |
I454N |
probably benign |
Het |
| Wnk3 |
T |
A |
X: 150,069,300 (GRCm39) |
F886I |
probably benign |
Het |
| Ylpm1 |
T |
C |
12: 85,096,644 (GRCm39) |
|
probably null |
Het |
| Zfp507 |
A |
T |
7: 35,487,195 (GRCm39) |
Y234N |
probably 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 |
|
R2360:Med25
|
UTSW |
7 |
44,534,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TTCCTAGGATCCAGGTGTGG -3'
(R):5'- TGGGAAATCCTCGATCCTCAC -3'
Sequencing Primer
(F):5'- ATCCAGGTGTGGGCTTCC -3'
(R):5'- TCGATCCTCACCCTGGATGG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation