Incidental Mutation 'IGL02434:Med14'
| ID |
293215 |
| 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: 0.947)
|
| Stock # |
IGL02434
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
12541608-12628312 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 12612063 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 371
(D371E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094239
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076016]
[ENSMUST00000096495]
|
| AlphaFold |
A2ABV5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076016
AA Change: D371E
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000075395
Gene: ENSMUSG00000064127
AA Change: D371E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med14
|
53 |
246 |
4.5e-63 |
PFAM |
|
low complexity region
|
608 |
621 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096495
AA Change: D371E
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000094239
Gene: ENSMUSG00000064127
AA Change: D371E
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago2 |
C |
A |
15: 72,992,930 (GRCm39) |
G525V |
probably damaging |
Het |
| Agxt2 |
T |
C |
15: 10,358,686 (GRCm39) |
S2P |
possibly damaging |
Het |
| Atg2b |
C |
T |
12: 105,605,466 (GRCm39) |
V339I |
probably benign |
Het |
| Btc |
T |
A |
5: 91,510,186 (GRCm39) |
I136F |
probably damaging |
Het |
| Cemip |
A |
T |
7: 83,604,492 (GRCm39) |
M850K |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,902,616 (GRCm39) |
T179S |
probably benign |
Het |
| Chd7 |
T |
C |
4: 8,752,145 (GRCm39) |
L214P |
probably benign |
Het |
| Garnl3 |
T |
A |
2: 32,944,217 (GRCm39) |
N114I |
probably damaging |
Het |
| Gm10010 |
G |
T |
6: 128,177,433 (GRCm39) |
|
noncoding transcript |
Het |
| Gstcd |
A |
G |
3: 132,701,963 (GRCm39) |
|
probably benign |
Het |
| Htr2b |
A |
G |
1: 86,038,492 (GRCm39) |
V38A |
probably benign |
Het |
| Hyal4 |
G |
A |
6: 24,763,857 (GRCm39) |
W339* |
probably null |
Het |
| Ifnb1 |
A |
G |
4: 88,440,755 (GRCm39) |
V86A |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,466,883 (GRCm39) |
|
probably null |
Het |
| Jag1 |
T |
C |
2: 136,929,075 (GRCm39) |
S794G |
probably benign |
Het |
| Kdm5c |
T |
A |
X: 151,016,558 (GRCm39) |
M1K |
probably null |
Het |
| Lct |
A |
G |
1: 128,231,527 (GRCm39) |
V774A |
probably damaging |
Het |
| Man2a2 |
G |
A |
7: 80,009,388 (GRCm39) |
A822V |
probably damaging |
Het |
| Nrcam |
A |
G |
12: 44,637,026 (GRCm39) |
|
probably benign |
Het |
| Or14j10 |
T |
A |
17: 37,935,467 (GRCm39) |
N20Y |
possibly damaging |
Het |
| Or52e18 |
A |
T |
7: 104,609,279 (GRCm39) |
M220K |
probably benign |
Het |
| Or52e18 |
A |
T |
7: 104,609,281 (GRCm39) |
Y219* |
probably null |
Het |
| Pitpnm1 |
C |
T |
19: 4,153,377 (GRCm39) |
R178W |
probably benign |
Het |
| Prb1b |
T |
A |
6: 132,289,339 (GRCm39) |
R162W |
unknown |
Het |
| Prkcg |
A |
G |
7: 3,367,406 (GRCm39) |
I324V |
probably benign |
Het |
| Prr30 |
A |
T |
14: 101,435,804 (GRCm39) |
C253S |
possibly damaging |
Het |
| Ptgis |
A |
T |
2: 167,082,262 (GRCm39) |
|
probably null |
Het |
| Rab11fip3 |
C |
T |
17: 26,287,809 (GRCm39) |
A115T |
possibly damaging |
Het |
| Reps2 |
C |
T |
X: 161,309,253 (GRCm39) |
|
probably null |
Het |
| Rev3l |
A |
G |
10: 39,698,587 (GRCm39) |
D1028G |
probably damaging |
Het |
| Rsbn1l |
T |
C |
5: 21,124,732 (GRCm39) |
R357G |
probably damaging |
Het |
| Scn5a |
A |
G |
9: 119,362,859 (GRCm39) |
L587P |
possibly damaging |
Het |
| Tanc2 |
C |
T |
11: 105,670,868 (GRCm39) |
T155I |
probably benign |
Het |
| Tfb2m |
A |
G |
1: 179,359,700 (GRCm39) |
|
probably benign |
Het |
| Tfpi |
A |
G |
2: 84,282,892 (GRCm39) |
|
probably benign |
Het |
| Tg |
T |
C |
15: 66,636,191 (GRCm39) |
S593P |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,839,910 (GRCm39) |
S314G |
probably benign |
Het |
|
| Other mutations in Med14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00565:Med14
|
APN |
X |
12,613,003 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation