Incidental Mutation 'R9541:Med25'
ID |
719873 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Med25
|
Ensembl Gene |
ENSMUSG00000002968 |
Gene Name |
mediator complex subunit 25 |
Synonyms |
ESTM2, 2610034E13Rik, 2610529E18Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9541 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
44526189-44542136 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 44541267 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 82
(V82A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146405
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003049]
[ENSMUST00000071207]
[ENSMUST00000207069]
[ENSMUST00000207154]
[ENSMUST00000207278]
[ENSMUST00000207485]
[ENSMUST00000208253]
[ENSMUST00000207654]
[ENSMUST00000207788]
[ENSMUST00000207939]
[ENSMUST00000208179]
[ENSMUST00000208551]
[ENSMUST00000208556]
[ENSMUST00000208600]
[ENSMUST00000209039]
[ENSMUST00000209132]
|
AlphaFold |
Q8VCB2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003049
AA Change: V82A
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000003049 Gene: ENSMUSG00000002968 AA Change: V82A
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 |
probably benign
Transcript: ENSMUST00000071207
|
SMART Domains |
Protein: ENSMUSP00000071194 Gene: ENSMUSG00000011658
Domain | Start | End | E-Value | Type |
low complexity region
|
234 |
259 |
N/A |
INTRINSIC |
low complexity region
|
292 |
310 |
N/A |
INTRINSIC |
low complexity region
|
382 |
391 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207069
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207154
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207278
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207485
|
Predicted Effect |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208253
AA Change: V82A
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207654
AA Change: V82A
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207788
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207939
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208179
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000208551
AA Change: V82A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
silent
Transcript: ENSMUST00000208556
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208600
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208908
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209039
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209132
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.5%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
T |
C |
7: 45,801,079 (GRCm39) |
I450V |
probably benign |
Het |
Adam21 |
T |
C |
12: 81,607,724 (GRCm39) |
T13A |
probably benign |
Het |
Adamts4 |
C |
A |
1: 171,084,695 (GRCm39) |
P644H |
probably damaging |
Het |
Ak9 |
C |
T |
10: 41,243,173 (GRCm39) |
A689V |
|
Het |
Ankhd1 |
G |
A |
18: 36,757,697 (GRCm39) |
S209N |
|
Het |
Anks1b |
A |
T |
10: 90,412,947 (GRCm39) |
T32S |
probably benign |
Het |
Atp13a4 |
G |
T |
16: 29,241,544 (GRCm39) |
T708K |
|
Het |
B4gat1 |
C |
T |
19: 5,089,896 (GRCm39) |
P298S |
probably damaging |
Het |
Btbd9 |
A |
G |
17: 30,439,438 (GRCm39) |
L583P |
possibly damaging |
Het |
Ciart |
C |
A |
3: 95,788,527 (GRCm39) |
C104F |
possibly damaging |
Het |
Coq5 |
T |
C |
5: 115,417,901 (GRCm39) |
S44P |
probably benign |
Het |
Dennd5b |
A |
G |
6: 148,899,872 (GRCm39) |
V1175A |
probably benign |
Het |
Filip1 |
T |
A |
9: 79,727,135 (GRCm39) |
K495* |
probably null |
Het |
Fscn2 |
G |
A |
11: 120,258,771 (GRCm39) |
V439M |
probably damaging |
Het |
Gcn1 |
A |
G |
5: 115,754,416 (GRCm39) |
I2339V |
probably benign |
Het |
Gmppa |
T |
A |
1: 75,417,094 (GRCm39) |
S176R |
probably damaging |
Het |
Gpatch3 |
G |
A |
4: 133,305,595 (GRCm39) |
E277K |
probably benign |
Het |
Hcn4 |
A |
G |
9: 58,767,685 (GRCm39) |
D1082G |
probably damaging |
Het |
Hdgfl2 |
T |
A |
17: 56,405,976 (GRCm39) |
D487E |
unknown |
Het |
Ifna14 |
A |
T |
4: 88,490,010 (GRCm39) |
M9K |
probably null |
Het |
Igkv4-81 |
A |
G |
6: 68,967,925 (GRCm39) |
Y59H |
|
Het |
Il2rb |
T |
A |
15: 78,372,393 (GRCm39) |
N108I |
probably benign |
Het |
Jarid2 |
C |
T |
13: 45,068,253 (GRCm39) |
R1092W |
possibly damaging |
Het |
Kdm5d |
T |
G |
Y: 910,801 (GRCm39) |
C304W |
probably damaging |
Het |
Khnyn |
T |
C |
14: 56,124,109 (GRCm39) |
I121T |
possibly damaging |
Het |
Lmcd1 |
A |
T |
6: 112,306,824 (GRCm39) |
H332L |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 41,234,600 (GRCm39) |
D1117G |
|
Het |
Mindy2 |
G |
A |
9: 70,512,508 (GRCm39) |
R581C |
possibly damaging |
Het |
Mindy3 |
T |
C |
2: 12,391,449 (GRCm39) |
T257A |
probably damaging |
Het |
Myo1e |
A |
T |
9: 70,204,628 (GRCm39) |
Y76F |
probably damaging |
Het |
Npas2 |
A |
T |
1: 39,377,194 (GRCm39) |
I519F |
possibly damaging |
Het |
Or2h2c |
C |
T |
17: 37,422,824 (GRCm39) |
D17N |
probably benign |
Het |
Or4f52 |
T |
A |
2: 111,061,275 (GRCm39) |
T288S |
probably damaging |
Het |
Or5ak25 |
T |
A |
2: 85,269,025 (GRCm39) |
H159L |
possibly damaging |
Het |
Otx1 |
A |
G |
11: 21,947,052 (GRCm39) |
F86L |
probably damaging |
Het |
Pcm1 |
A |
G |
8: 41,780,616 (GRCm39) |
D1856G |
probably benign |
Het |
Pcsk7 |
G |
A |
9: 45,820,768 (GRCm39) |
E67K |
probably benign |
Het |
Pkd2 |
A |
G |
5: 104,607,927 (GRCm39) |
Y142C |
probably damaging |
Het |
Ptpre |
A |
G |
7: 135,266,740 (GRCm39) |
D236G |
probably benign |
Het |
Rasd2 |
T |
C |
8: 75,945,200 (GRCm39) |
C10R |
probably benign |
Het |
Rd3 |
C |
A |
1: 191,717,294 (GRCm39) |
R140S |
possibly damaging |
Het |
Rusc1 |
T |
G |
3: 88,998,922 (GRCm39) |
T287P |
possibly damaging |
Het |
Slc22a7 |
T |
C |
17: 46,749,084 (GRCm39) |
S78G |
probably damaging |
Het |
Sltm |
A |
T |
9: 70,481,057 (GRCm39) |
H303L |
unknown |
Het |
Syne4 |
G |
A |
7: 30,016,343 (GRCm39) |
V228I |
probably benign |
Het |
Timm22 |
T |
A |
11: 76,300,641 (GRCm39) |
C138S |
possibly damaging |
Het |
Trib2 |
T |
A |
12: 15,866,827 (GRCm39) |
I15L |
unknown |
Het |
Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
Tyro3 |
T |
C |
2: 119,642,589 (GRCm39) |
V591A |
possibly damaging |
Het |
Vmn2r69 |
A |
G |
7: 85,056,209 (GRCm39) |
V643A |
probably benign |
Het |
Zfp281 |
G |
T |
1: 136,555,303 (GRCm39) |
Q760H |
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 |
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 |
R9696:Med25
|
UTSW |
7 |
44,529,524 (GRCm39) |
missense |
probably benign |
0.33 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTAACTGGACACTCAGACAGG -3'
(R):5'- GGAAAGATGGGGTCCTTAGTC -3'
Sequencing Primer
(F):5'- AGGGACTGTGGTGACCC -3'
(R):5'- CTTAGTCTTGGGTTTGAGAGAAGAAG -3'
|
Posted On |
2022-07-18 |