Incidental Mutation 'IGL02897:Med26'
| ID |
363431 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Med26
|
| Ensembl Gene |
ENSMUSG00000045248 |
| Gene Name |
mediator complex subunit 26 |
| Synonyms |
5730493L18Rik, Crsp7 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.307)
|
| Stock # |
IGL02897
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
73248405-73302114 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 73250365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 245
(T245A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058697
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058534]
[ENSMUST00000152080]
|
| AlphaFold |
Q7TN02 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058534
AA Change: T245A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000058697
Gene: ENSMUSG00000045248
AA Change: T245A
| Domain | Start | End | E-Value | Type |
|---|
|
TFS2N
|
12 |
86 |
6.67e-21 |
SMART |
|
low complexity region
|
93 |
108 |
N/A |
INTRINSIC |
|
Pfam:Med26_M
|
177 |
405 |
3e-80 |
PFAM |
|
Pfam:Med26_C
|
407 |
586 |
5.1e-91 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141352
|
| SMART Domains |
Protein: ENSMUSP00000122215
Gene: ENSMUSG00000019731
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EamA
|
5 |
58 |
1.5e-6 |
PFAM |
|
Pfam:UAA
|
6 |
214 |
4e-8 |
PFAM |
|
Pfam:TPT
|
67 |
211 |
1.7e-38 |
PFAM |
|
Pfam:EamA
|
76 |
211 |
1.4e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152080
|
| SMART Domains |
Protein: ENSMUSP00000115754
Gene: ENSMUSG00000019731
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPT
|
28 |
333 |
8.3e-95 |
PFAM |
|
Pfam:EamA
|
188 |
334 |
7.1e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181452
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212699
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
T |
A |
11: 23,467,308 (GRCm39) |
E108D |
probably benign |
Het |
| Abca7 |
T |
C |
10: 79,837,426 (GRCm39) |
F437L |
probably damaging |
Het |
| Abi2 |
T |
C |
1: 60,487,353 (GRCm39) |
V134A |
probably damaging |
Het |
| Ablim2 |
T |
C |
5: 35,990,470 (GRCm39) |
I75T |
probably damaging |
Het |
| Aldh1a3 |
A |
G |
7: 66,077,075 (GRCm39) |
V29A |
probably benign |
Het |
| Bptf |
T |
C |
11: 106,937,947 (GRCm39) |
K2715E |
probably damaging |
Het |
| Cd163 |
A |
T |
6: 124,302,486 (GRCm39) |
S1017C |
probably damaging |
Het |
| Cdc14b |
T |
C |
13: 64,395,067 (GRCm39) |
I76V |
probably benign |
Het |
| Cers6 |
T |
A |
2: 68,764,877 (GRCm39) |
C63* |
probably null |
Het |
| Chd9 |
T |
C |
8: 91,660,496 (GRCm39) |
|
probably benign |
Het |
| Col19a1 |
T |
C |
1: 24,573,179 (GRCm39) |
N198D |
unknown |
Het |
| Cse1l |
T |
C |
2: 166,761,628 (GRCm39) |
C61R |
possibly damaging |
Het |
| Cubn |
T |
C |
2: 13,323,123 (GRCm39) |
T2815A |
possibly damaging |
Het |
| Cyp19a1 |
G |
T |
9: 54,074,195 (GRCm39) |
T453K |
possibly damaging |
Het |
| Dlg1 |
G |
T |
16: 31,590,674 (GRCm39) |
|
probably null |
Het |
| Dpp7 |
T |
C |
2: 25,243,684 (GRCm39) |
Y339C |
probably damaging |
Het |
| Dtl |
T |
C |
1: 191,273,656 (GRCm39) |
|
probably benign |
Het |
| Gm5591 |
T |
C |
7: 38,219,466 (GRCm39) |
E469G |
probably damaging |
Het |
| Ing3 |
T |
A |
6: 21,969,325 (GRCm39) |
V202E |
probably benign |
Het |
| Inpp5j |
A |
G |
11: 3,450,619 (GRCm39) |
L578P |
probably damaging |
Het |
| Irak4 |
A |
G |
15: 94,451,872 (GRCm39) |
N155S |
probably benign |
Het |
| Kif2b |
A |
T |
11: 91,467,045 (GRCm39) |
S413T |
probably damaging |
Het |
| L3mbtl1 |
A |
T |
2: 162,807,692 (GRCm39) |
Y490F |
probably damaging |
Het |
| Med17 |
T |
G |
9: 15,178,830 (GRCm39) |
D447A |
probably damaging |
Het |
| Nlrc3 |
A |
T |
16: 3,781,938 (GRCm39) |
S490R |
possibly damaging |
Het |
| Nme5 |
A |
G |
18: 34,702,956 (GRCm39) |
|
probably benign |
Het |
| Or51aa5 |
T |
C |
7: 103,167,337 (GRCm39) |
R85G |
probably benign |
Het |
| Rnf10 |
G |
T |
5: 115,386,700 (GRCm39) |
Q530K |
probably benign |
Het |
| Robo3 |
A |
T |
9: 37,338,798 (GRCm39) |
Y281* |
probably null |
Het |
| Sclt1 |
T |
C |
3: 41,629,822 (GRCm39) |
I330V |
probably benign |
Het |
| Smim14 |
A |
T |
5: 65,607,739 (GRCm39) |
|
probably benign |
Het |
| Trank1 |
T |
G |
9: 111,196,585 (GRCm39) |
H1536Q |
probably damaging |
Het |
| Tspan18 |
A |
G |
2: 93,050,518 (GRCm39) |
L35P |
possibly damaging |
Het |
| Ubr4 |
G |
A |
4: 139,199,819 (GRCm39) |
V4568M |
probably damaging |
Het |
| Vmn1r63 |
A |
G |
7: 5,805,744 (GRCm39) |
V296A |
possibly damaging |
Het |
|
| Other mutations in Med26 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01023:Med26
|
APN |
8 |
73,249,718 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2017:Med26
|
UTSW |
8 |
73,250,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2203:Med26
|
UTSW |
8 |
73,249,746 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2408:Med26
|
UTSW |
8 |
73,249,476 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2913:Med26
|
UTSW |
8 |
73,249,956 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4030:Med26
|
UTSW |
8 |
73,250,413 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4904:Med26
|
UTSW |
8 |
73,250,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5042:Med26
|
UTSW |
8 |
73,250,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6682:Med26
|
UTSW |
8 |
73,249,927 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6755:Med26
|
UTSW |
8 |
73,249,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6978:Med26
|
UTSW |
8 |
73,250,427 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8945:Med26
|
UTSW |
8 |
73,250,934 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9677:Med26
|
UTSW |
8 |
73,249,930 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-12-18 |
Incidental Mutation