Incidental Mutation 'R5494:Med25'
ID |
432235 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Med25
|
Ensembl Gene |
ENSMUSG00000002968 |
Gene Name |
mediator complex subunit 25 |
Synonyms |
ESTM2, 2610034E13Rik, 2610529E18Rik |
MMRRC Submission |
043055-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5494 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
44526189-44542136 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 44535225 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 170
(V170M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146498
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003049]
[ENSMUST00000207278]
[ENSMUST00000207654]
[ENSMUST00000208253]
[ENSMUST00000208551]
[ENSMUST00000207848]
[ENSMUST00000208556]
[ENSMUST00000207788]
|
AlphaFold |
Q8VCB2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000003049
AA Change: V170M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000003049 Gene: ENSMUSG00000002968 AA Change: V170M
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: V67M
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000207490
AA Change: V157M
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000207654
AA Change: V247M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000208253
AA Change: V170M
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000208551
AA Change: V170M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207848
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208556
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207788
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209191
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208552
|
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.4%
- 10x: 95.3%
- 20x: 91.3%
|
Validation Efficiency |
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ak9 |
A |
G |
10: 41,223,165 (GRCm39) |
E436G |
probably damaging |
Het |
Aldh18a1 |
C |
T |
19: 40,539,734 (GRCm39) |
R747Q |
probably damaging |
Het |
Apob |
A |
G |
12: 8,061,762 (GRCm39) |
N3415D |
probably damaging |
Het |
Asb18 |
T |
C |
1: 89,882,121 (GRCm39) |
E139G |
probably damaging |
Het |
Atrn |
T |
C |
2: 130,864,995 (GRCm39) |
L1374P |
probably damaging |
Het |
Ccdc81 |
A |
G |
7: 89,526,781 (GRCm39) |
S410P |
probably damaging |
Het |
Cep112 |
A |
G |
11: 108,555,431 (GRCm39) |
E809G |
probably damaging |
Het |
Dctn1 |
G |
T |
6: 83,159,546 (GRCm39) |
R8L |
possibly damaging |
Het |
Ddn |
C |
A |
15: 98,704,884 (GRCm39) |
R82L |
probably damaging |
Het |
Dgkz |
A |
T |
2: 91,771,394 (GRCm39) |
|
probably null |
Het |
Eif4a3l1 |
C |
G |
6: 136,306,555 (GRCm39) |
R339G |
probably damaging |
Het |
Frem1 |
T |
C |
4: 82,858,990 (GRCm39) |
*415W |
probably null |
Het |
Fry |
A |
T |
5: 150,314,132 (GRCm39) |
D789V |
probably damaging |
Het |
Fzr1 |
C |
T |
10: 81,207,178 (GRCm39) |
|
probably null |
Het |
Gemin5 |
T |
A |
11: 58,021,526 (GRCm39) |
Y1025F |
probably damaging |
Het |
Gjb5 |
C |
T |
4: 127,249,347 (GRCm39) |
V266M |
probably damaging |
Het |
Gli3 |
A |
T |
13: 15,900,567 (GRCm39) |
Q1318L |
probably benign |
Het |
Golgb1 |
T |
A |
16: 36,749,045 (GRCm39) |
N3056K |
possibly damaging |
Het |
Gucy1b1 |
T |
A |
3: 81,947,183 (GRCm39) |
D342V |
probably damaging |
Het |
H1f9 |
T |
C |
11: 94,858,843 (GRCm39) |
L46S |
probably benign |
Het |
Hc |
A |
T |
2: 34,893,551 (GRCm39) |
|
probably null |
Het |
Heg1 |
A |
G |
16: 33,545,804 (GRCm39) |
D185G |
probably benign |
Het |
Igf2r |
A |
T |
17: 12,912,032 (GRCm39) |
M1865K |
possibly damaging |
Het |
Il27 |
A |
G |
7: 126,192,100 (GRCm39) |
L12P |
probably damaging |
Het |
Krt1 |
C |
T |
15: 101,759,149 (GRCm39) |
C5Y |
unknown |
Het |
Mgat4a |
T |
A |
1: 37,493,898 (GRCm39) |
Y316F |
probably damaging |
Het |
Oas3 |
A |
G |
5: 120,899,709 (GRCm39) |
V725A |
unknown |
Het |
Or52ac1 |
C |
A |
7: 104,245,932 (GRCm39) |
G152V |
probably damaging |
Het |
Or5w16 |
T |
C |
2: 87,576,950 (GRCm39) |
S137P |
probably damaging |
Het |
Pcdhb17 |
T |
C |
18: 37,620,300 (GRCm39) |
S697P |
probably damaging |
Het |
Plch2 |
T |
C |
4: 155,075,579 (GRCm39) |
Y751C |
probably damaging |
Het |
Rbms2 |
G |
T |
10: 127,973,560 (GRCm39) |
T252N |
probably damaging |
Het |
Rbpjl |
GCC |
GC |
2: 164,256,330 (GRCm39) |
|
probably null |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Scfd1 |
A |
G |
12: 51,443,522 (GRCm39) |
|
probably null |
Het |
Shank3 |
C |
T |
15: 89,432,441 (GRCm39) |
T1062M |
probably damaging |
Het |
Slc28a1 |
G |
A |
7: 80,817,787 (GRCm39) |
G552E |
probably damaging |
Het |
Sntn |
A |
G |
14: 13,682,214 (GRCm38) |
R96G |
probably benign |
Het |
Tas2r102 |
T |
C |
6: 132,740,106 (GRCm39) |
V338A |
probably benign |
Het |
Trim62 |
A |
T |
4: 128,778,999 (GRCm39) |
N145Y |
possibly damaging |
Het |
Tspoap1 |
C |
T |
11: 87,666,031 (GRCm39) |
T863I |
possibly damaging |
Het |
Ubr5 |
C |
T |
15: 38,019,525 (GRCm39) |
C739Y |
possibly damaging |
Het |
Vps13c |
G |
A |
9: 67,855,428 (GRCm39) |
V2498I |
probably benign |
Het |
Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
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 |
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 |
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'- ACGTAAAGCCTGGCCTTAGG -3'
(R):5'- GTCAGCTGTAAATGACCTCAGAG -3'
Sequencing Primer
(F):5'- CCCAGAATTCTGAGTATGGACAGTC -3'
(R):5'- GGGTGAGGGCATGACACAC -3'
|
Posted On |
2016-10-05 |