Incidental Mutation 'IGL00895:Med14'
| ID |
29565 |
| 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 # |
IGL00895
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
12541608-12628312 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12547039 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 723
(V723A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111143
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096495]
[ENSMUST00000115481]
|
| AlphaFold |
A2ABV5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096495
AA Change: V1362A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000094239
Gene: ENSMUSG00000064127
AA Change: V1362A
| 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 |
probably damaging
Transcript: ENSMUST00000115481
AA Change: V723A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000111143
Gene: ENSMUSG00000064127
AA Change: V723A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
366 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
426 |
447 |
N/A |
INTRINSIC |
|
low complexity region
|
707 |
722 |
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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl6ip6 |
T |
A |
2: 53,092,936 (GRCm39) |
W154R |
probably damaging |
Het |
| Ccnc |
T |
A |
4: 21,742,642 (GRCm39) |
Y156* |
probably null |
Het |
| Clca3a1 |
A |
C |
3: 144,730,357 (GRCm39) |
W163G |
probably damaging |
Het |
| Cntnap5b |
C |
T |
1: 100,311,310 (GRCm39) |
T972I |
probably damaging |
Het |
| Cpn2 |
C |
T |
16: 30,079,338 (GRCm39) |
S121N |
probably benign |
Het |
| Dcc |
T |
C |
18: 71,943,871 (GRCm39) |
E260G |
probably damaging |
Het |
| Dnah6 |
A |
T |
6: 73,133,333 (GRCm39) |
N1091K |
possibly damaging |
Het |
| Dpp9 |
G |
T |
17: 56,512,240 (GRCm39) |
F249L |
probably damaging |
Het |
| Dscaml1 |
A |
G |
9: 45,662,551 (GRCm39) |
D1839G |
probably damaging |
Het |
| Esr1 |
C |
T |
10: 4,997,890 (GRCm38) |
R481L |
probably benign |
Het |
| Frem2 |
G |
T |
3: 53,493,016 (GRCm39) |
D1833E |
probably damaging |
Het |
| Ftdc2 |
A |
T |
16: 58,458,059 (GRCm39) |
Y81N |
probably benign |
Het |
| Ica1 |
T |
C |
6: 8,653,514 (GRCm39) |
D343G |
probably benign |
Het |
| Il27 |
T |
C |
7: 126,188,555 (GRCm39) |
H206R |
probably benign |
Het |
| Msh3 |
C |
A |
13: 92,481,472 (GRCm39) |
G347C |
probably damaging |
Het |
| Nfasc |
T |
A |
1: 132,501,536 (GRCm39) |
K1262* |
probably null |
Het |
| Nlrp9a |
A |
T |
7: 26,258,103 (GRCm39) |
M485L |
probably benign |
Het |
| Or4c111 |
A |
G |
2: 88,843,953 (GRCm39) |
F152L |
probably benign |
Het |
| Or4f60 |
A |
G |
2: 111,902,100 (GRCm39) |
V276A |
probably damaging |
Het |
| Pcdhb5 |
T |
G |
18: 37,454,036 (GRCm39) |
L139V |
probably benign |
Het |
| Rbfox1 |
A |
T |
16: 7,187,698 (GRCm39) |
K43N |
probably benign |
Het |
| Scn5a |
G |
T |
9: 119,342,170 (GRCm39) |
|
probably null |
Het |
| Senp7 |
G |
T |
16: 55,902,740 (GRCm39) |
R21L |
probably damaging |
Het |
| Ssb |
G |
A |
2: 69,696,606 (GRCm39) |
V47I |
probably benign |
Het |
| Ttll8 |
T |
A |
15: 88,817,731 (GRCm39) |
S221C |
probably damaging |
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 |
|
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 |
2013-04-17 |
Incidental Mutation