Incidental Mutation 'IGL00565:Med14'
| ID |
11944 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Med14
|
| Ensembl Gene |
ENSMUSG00000064127 |
| Gene Name |
mediator complex subunit 14 |
| Synonyms |
Crsp2, ENSMUSG00000073278, 9930001L01Rik, LOC270579, ORF1, Trap170 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.939)
|
| Stock # |
IGL00565
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
12541608-12628312 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 12613003 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094239
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076016]
[ENSMUST00000096495]
|
| AlphaFold |
A2ABV5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076016
|
| SMART Domains |
Protein: ENSMUSP00000075395
Gene: ENSMUSG00000064127
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med14
|
53 |
246 |
4.5e-63 |
PFAM |
|
low complexity region
|
608 |
621 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096495
|
| SMART Domains |
Protein: ENSMUSP00000094239
Gene: ENSMUSG00000064127
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
54 |
N/A |
INTRINSIC |
|
Pfam:Med14
|
55 |
244 |
6.7e-63 |
PFAM |
|
low complexity region
|
608 |
621 |
N/A |
INTRINSIC |
|
low complexity region
|
1005 |
1018 |
N/A |
INTRINSIC |
|
low complexity region
|
1065 |
1086 |
N/A |
INTRINSIC |
|
low complexity region
|
1346 |
1361 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124053
|
| 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. This protein contains a bipartite nuclear localization signal. This gene is known to escape chromosome X-inactivation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Male chimeras hemizygous for a gene trapped allele appear normal at E10.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
C |
A |
7: 41,274,996 (GRCm39) |
T233K |
possibly damaging |
Het |
| Adamts9 |
A |
T |
6: 92,836,883 (GRCm39) |
M623K |
possibly damaging |
Het |
| Arid1a |
T |
G |
4: 133,412,793 (GRCm39) |
D1467A |
unknown |
Het |
| Cdhr2 |
A |
G |
13: 54,866,112 (GRCm39) |
D304G |
probably damaging |
Het |
| Cenpj |
C |
T |
14: 56,790,487 (GRCm39) |
V521I |
probably benign |
Het |
| Ciao2a |
A |
T |
9: 66,039,898 (GRCm39) |
I72L |
probably benign |
Het |
| Csf2rb |
G |
T |
15: 78,232,714 (GRCm39) |
E674* |
probably null |
Het |
| Dnai3 |
T |
C |
3: 145,750,674 (GRCm39) |
|
probably benign |
Het |
| Edaradd |
C |
T |
13: 12,498,480 (GRCm39) |
|
probably null |
Het |
| Emilin2 |
A |
G |
17: 71,559,854 (GRCm39) |
V1041A |
possibly damaging |
Het |
| Fam135b |
A |
G |
15: 71,343,361 (GRCm39) |
V418A |
probably benign |
Het |
| Gnas |
T |
A |
2: 174,183,504 (GRCm39) |
|
probably benign |
Het |
| Grxcr1 |
A |
T |
5: 68,189,540 (GRCm39) |
N104Y |
possibly damaging |
Het |
| Gtf2a1l |
T |
A |
17: 89,001,723 (GRCm39) |
L146Q |
probably damaging |
Het |
| Hectd1 |
T |
A |
12: 51,837,181 (GRCm39) |
E791D |
probably damaging |
Het |
| Ifi203 |
A |
G |
1: 173,765,306 (GRCm39) |
|
probably null |
Het |
| Klk1b11 |
A |
G |
7: 43,649,243 (GRCm39) |
N260S |
probably damaging |
Het |
| LTO1 |
G |
T |
7: 144,470,220 (GRCm39) |
V50F |
probably damaging |
Het |
| Map4 |
A |
T |
9: 109,901,672 (GRCm39) |
|
probably benign |
Het |
| Marveld2 |
C |
T |
13: 100,737,401 (GRCm39) |
V163M |
possibly damaging |
Het |
| Mex3b |
A |
T |
7: 82,518,116 (GRCm39) |
I144F |
probably damaging |
Het |
| Pde2a |
T |
A |
7: 101,133,796 (GRCm39) |
C92* |
probably null |
Het |
| Phf6 |
T |
A |
X: 52,020,516 (GRCm39) |
Y103N |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 161,402,111 (GRCm39) |
I1039T |
probably damaging |
Het |
| Rftn2 |
C |
A |
1: 55,243,444 (GRCm39) |
V275F |
probably damaging |
Het |
| Skap1 |
C |
A |
11: 96,621,971 (GRCm39) |
Q296K |
probably damaging |
Het |
| Skap1 |
T |
A |
11: 96,622,016 (GRCm39) |
F311I |
probably damaging |
Het |
| Tas2r115 |
A |
G |
6: 132,714,741 (GRCm39) |
I70T |
probably benign |
Het |
| Vav2 |
T |
C |
2: 27,167,250 (GRCm39) |
D613G |
probably benign |
Het |
| Zranb3 |
T |
C |
1: 127,943,877 (GRCm39) |
E290G |
probably benign |
Het |
|
| Other mutations in Med14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00670:Med14
|
APN |
X |
12,620,428 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00895:Med14
|
APN |
X |
12,547,039 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02434:Med14
|
APN |
X |
12,612,063 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03064:Med14
|
APN |
X |
12,613,742 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0295:Med14
|
UTSW |
X |
12,551,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2844:Med14
|
UTSW |
X |
12,550,235 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2860:Med14
|
UTSW |
X |
12,585,936 (GRCm39) |
missense |
probably benign |
|
|
R2861:Med14
|
UTSW |
X |
12,585,936 (GRCm39) |
missense |
probably benign |
|
|
R2862:Med14
|
UTSW |
X |
12,585,936 (GRCm39) |
missense |
probably benign |
|
|
R3157:Med14
|
UTSW |
X |
12,550,330 (GRCm39) |
splice site |
probably benign |
|
|
R3158:Med14
|
UTSW |
X |
12,550,330 (GRCm39) |
splice site |
probably benign |
|
|
R3807:Med14
|
UTSW |
X |
12,553,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Med14
|
UTSW |
X |
12,553,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Med14
|
UTSW |
X |
12,543,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation