Incidental Mutation 'IGL02963:Med25'
ID |
365423 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Med25
|
Ensembl Gene |
ENSMUSG00000002968 |
Gene Name |
mediator complex subunit 25 |
Synonyms |
ESTM2, 2610034E13Rik, 2610529E18Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02963
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
44526189-44542136 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 44541680 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 37
(K37E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146498
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003049]
[ENSMUST00000071207]
[ENSMUST00000207069]
[ENSMUST00000207154]
[ENSMUST00000207278]
[ENSMUST00000207654]
[ENSMUST00000207788]
[ENSMUST00000208556]
[ENSMUST00000208253]
[ENSMUST00000208551]
[ENSMUST00000208179]
[ENSMUST00000207485]
[ENSMUST00000207939]
[ENSMUST00000209132]
[ENSMUST00000209039]
[ENSMUST00000208600]
|
AlphaFold |
Q8VCB2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000003049
AA Change: K37E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000003049 Gene: ENSMUSG00000002968 AA Change: K37E
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 |
noncoding transcript
Transcript: ENSMUST00000207196
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207278
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207654
AA Change: K37E
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207788
AA Change: K37E
PolyPhen 2
Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000208556
AA Change: K37E
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000208253
AA Change: K37E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000208551
AA Change: K37E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208179
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208484
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207485
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208291
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207480
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207490
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207939
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209132
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209039
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208600
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208908
|
Coding Region Coverage |
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
A |
17: 24,603,503 (GRCm39) |
L565Q |
probably damaging |
Het |
Ap1b1 |
G |
T |
11: 4,983,738 (GRCm39) |
A664S |
possibly damaging |
Het |
Arhgap44 |
A |
T |
11: 64,922,489 (GRCm39) |
I348N |
probably damaging |
Het |
Bahcc1 |
T |
C |
11: 120,165,758 (GRCm39) |
S1005P |
possibly damaging |
Het |
Ccn1 |
A |
G |
3: 145,353,630 (GRCm39) |
Y311H |
probably damaging |
Het |
Cdh20 |
T |
A |
1: 104,861,823 (GRCm39) |
M1K |
probably null |
Het |
Cfhr4 |
G |
A |
1: 139,659,334 (GRCm39) |
Q732* |
probably null |
Het |
Cpsf3 |
T |
C |
12: 21,352,423 (GRCm39) |
S387P |
probably damaging |
Het |
Cyp2j6 |
T |
C |
4: 96,406,421 (GRCm39) |
E450G |
probably damaging |
Het |
Dusp13b |
T |
C |
14: 21,783,875 (GRCm39) |
T147A |
possibly damaging |
Het |
Eif3c |
T |
C |
7: 126,155,992 (GRCm39) |
T493A |
probably benign |
Het |
Ell2 |
T |
C |
13: 75,917,762 (GRCm39) |
V564A |
possibly damaging |
Het |
Gtf2ird1 |
T |
G |
5: 134,418,541 (GRCm39) |
E478D |
probably benign |
Het |
Gys2 |
A |
T |
6: 142,395,154 (GRCm39) |
|
probably null |
Het |
H2-T3 |
T |
C |
17: 36,500,526 (GRCm39) |
T104A |
probably damaging |
Het |
Herc1 |
T |
C |
9: 66,296,105 (GRCm39) |
S567P |
probably damaging |
Het |
Kcnq3 |
A |
T |
15: 66,157,675 (GRCm39) |
|
probably benign |
Het |
Kdm7a |
T |
C |
6: 39,120,164 (GRCm39) |
H935R |
probably damaging |
Het |
Lcat |
A |
T |
8: 106,666,588 (GRCm39) |
F311L |
probably damaging |
Het |
Manf |
A |
G |
9: 106,768,338 (GRCm39) |
S49P |
possibly damaging |
Het |
Ms4a4b |
T |
A |
19: 11,432,062 (GRCm39) |
I61K |
probably damaging |
Het |
Muc5b |
T |
C |
7: 141,418,001 (GRCm39) |
I3649T |
probably damaging |
Het |
Myo18a |
T |
G |
11: 77,732,844 (GRCm39) |
|
probably benign |
Het |
Ncoa4 |
T |
C |
14: 31,898,466 (GRCm39) |
C429R |
probably damaging |
Het |
Or14j2 |
A |
G |
17: 37,885,745 (GRCm39) |
S190P |
probably benign |
Het |
Pigk |
G |
T |
3: 152,472,098 (GRCm39) |
E337* |
probably null |
Het |
Pigz |
A |
T |
16: 31,763,353 (GRCm39) |
Y137F |
probably damaging |
Het |
Ppp1r12b |
A |
G |
1: 134,814,286 (GRCm39) |
L339P |
probably damaging |
Het |
Rasa2 |
C |
A |
9: 96,452,838 (GRCm39) |
L349F |
probably damaging |
Het |
Reep4 |
A |
G |
14: 70,785,410 (GRCm39) |
S186G |
possibly damaging |
Het |
Rfx7 |
A |
G |
9: 72,524,898 (GRCm39) |
K696R |
probably benign |
Het |
Rnf220 |
A |
G |
4: 117,347,389 (GRCm39) |
F8L |
probably damaging |
Het |
Rprm |
T |
C |
2: 53,975,226 (GRCm39) |
T31A |
probably benign |
Het |
Sez6 |
T |
A |
11: 77,853,775 (GRCm39) |
L148Q |
possibly damaging |
Het |
Sh2d6 |
C |
T |
6: 72,494,584 (GRCm39) |
V96I |
probably benign |
Het |
Slc16a9 |
G |
T |
10: 70,102,966 (GRCm39) |
V81F |
probably damaging |
Het |
Slc9a9 |
T |
A |
9: 94,902,767 (GRCm39) |
|
probably null |
Het |
Sppl3 |
T |
A |
5: 115,199,662 (GRCm39) |
L22Q |
probably damaging |
Het |
Ssc5d |
T |
C |
7: 4,947,326 (GRCm39) |
S1227P |
probably benign |
Het |
Tbc1d1 |
T |
A |
5: 64,421,709 (GRCm39) |
V238E |
probably damaging |
Het |
Tmco6 |
G |
A |
18: 36,871,798 (GRCm39) |
|
probably null |
Het |
Tyr |
A |
G |
7: 87,133,205 (GRCm39) |
V287A |
probably benign |
Het |
Uvrag |
A |
T |
7: 98,555,697 (GRCm39) |
|
probably null |
Het |
Vmn1r167 |
A |
G |
7: 23,204,975 (GRCm39) |
S14P |
possibly damaging |
Het |
Vmn1r171 |
A |
G |
7: 23,332,113 (GRCm39) |
T113A |
possibly damaging |
Het |
Wnk4 |
A |
G |
11: 101,167,039 (GRCm39) |
|
probably benign |
Het |
Zan |
T |
C |
5: 137,454,512 (GRCm39) |
T1431A |
unknown |
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 |
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 |
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 |
|
Posted On |
2015-12-18 |