Incidental Mutation 'IGL01023:Med26'
| ID |
53742 |
| 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 # |
IGL01023
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
73248405-73302114 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 73249718 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 460
(F460L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058697
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058534]
[ENSMUST00000152080]
|
| AlphaFold |
Q7TN02 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058534
AA Change: F460L
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000058697
Gene: ENSMUSG00000045248
AA Change: F460L
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc1 |
A |
G |
2: 128,471,649 (GRCm39) |
L1472P |
probably damaging |
Het |
| Col18a1 |
C |
T |
10: 76,906,809 (GRCm39) |
V1151M |
probably damaging |
Het |
| Crmp1 |
A |
T |
5: 37,433,657 (GRCm39) |
D286V |
probably damaging |
Het |
| Ddx60 |
A |
T |
8: 62,395,548 (GRCm39) |
I162F |
probably damaging |
Het |
| Fam24b |
A |
T |
7: 130,927,903 (GRCm39) |
C95* |
probably null |
Het |
| Fsd1 |
A |
G |
17: 56,295,245 (GRCm39) |
Y78C |
probably damaging |
Het |
| Galc |
C |
T |
12: 98,197,681 (GRCm39) |
V343I |
probably benign |
Het |
| Glis2 |
C |
T |
16: 4,429,514 (GRCm39) |
R214C |
probably damaging |
Het |
| Gm14406 |
A |
T |
2: 177,261,032 (GRCm39) |
C416S |
probably damaging |
Het |
| Gnat3 |
T |
C |
5: 18,208,826 (GRCm39) |
S177P |
probably damaging |
Het |
| Higd1a |
C |
T |
9: 121,678,749 (GRCm39) |
G80D |
possibly damaging |
Het |
| Hp1bp3 |
T |
C |
4: 137,967,940 (GRCm39) |
V421A |
possibly damaging |
Het |
| Ipo11 |
A |
T |
13: 107,033,767 (GRCm39) |
F238L |
probably benign |
Het |
| Or5as1 |
T |
A |
2: 86,980,169 (GRCm39) |
T279S |
possibly damaging |
Het |
| Osbp2 |
T |
C |
11: 3,813,387 (GRCm39) |
I161V |
probably benign |
Het |
| Prr5 |
T |
C |
15: 84,583,856 (GRCm39) |
V152A |
possibly damaging |
Het |
| Prx |
T |
A |
7: 27,218,844 (GRCm39) |
I1115K |
probably benign |
Het |
| Ptpn22 |
A |
G |
3: 103,810,690 (GRCm39) |
I708M |
probably benign |
Het |
| Robo3 |
T |
C |
9: 37,340,847 (GRCm39) |
T120A |
probably damaging |
Het |
| Setd2 |
C |
A |
9: 110,376,581 (GRCm39) |
S132* |
probably null |
Het |
| Slc9a1 |
A |
G |
4: 133,149,454 (GRCm39) |
E760G |
probably benign |
Het |
| Slco1a7 |
A |
G |
6: 141,700,155 (GRCm39) |
S126P |
probably benign |
Het |
| Stx16 |
A |
T |
2: 173,934,202 (GRCm39) |
H135L |
probably damaging |
Het |
| Tas2r131 |
A |
T |
6: 132,934,764 (GRCm39) |
L15Q |
probably damaging |
Het |
| Thoc2l |
T |
A |
5: 104,668,366 (GRCm39) |
W963R |
probably damaging |
Het |
| Tmcc1 |
A |
G |
6: 116,019,988 (GRCm39) |
L128P |
probably damaging |
Het |
| Tmem269 |
C |
A |
4: 119,066,511 (GRCm39) |
M182I |
probably benign |
Het |
| Tnfaip8l2 |
A |
G |
3: 95,047,726 (GRCm39) |
S46P |
probably damaging |
Het |
| Trim30c |
A |
G |
7: 104,032,179 (GRCm39) |
|
probably benign |
Het |
| Unc13a |
C |
T |
8: 72,114,469 (GRCm39) |
E184K |
probably benign |
Het |
| Wfs1 |
A |
T |
5: 37,125,261 (GRCm39) |
C467* |
probably null |
Het |
| Zfp78 |
G |
A |
7: 6,378,587 (GRCm39) |
G77D |
possibly damaging |
Het |
|
| Other mutations in Med26 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02897:Med26
|
APN |
8 |
73,250,365 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2013-06-28 |
Incidental Mutation