Incidental Mutation 'R3158:Med14'
ID |
263606 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Med14
|
Ensembl Gene |
ENSMUSG00000064127 |
Gene Name |
mediator complex subunit 14 |
Synonyms |
Crsp2, ENSMUSG00000073278, 9930001L01Rik, LOC270579, ORF1, Trap170 |
MMRRC Submission |
040609-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.947)
|
Stock # |
R3158 (G1)
|
Quality Score |
222 |
Status
|
Validated
|
Chromosome |
X |
Chromosomal Location |
12541608-12628312 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 12550330 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111143
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096495]
[ENSMUST00000115481]
|
AlphaFold |
A2ABV5 |
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 |
probably benign
Transcript: ENSMUST00000115481
|
SMART Domains |
Protein: ENSMUSP00000111143 Gene: ENSMUSG00000064127
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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
97% (35/36) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aoc2 |
A |
T |
11: 101,220,102 (GRCm39) |
N696I |
probably damaging |
Het |
Ccr4 |
G |
T |
9: 114,321,350 (GRCm39) |
N238K |
probably benign |
Het |
Cd300e |
A |
C |
11: 114,952,849 (GRCm39) |
M1R |
probably null |
Het |
Cep95 |
A |
G |
11: 106,700,013 (GRCm39) |
|
probably benign |
Het |
Cfap54 |
T |
C |
10: 92,834,918 (GRCm39) |
I1096V |
probably benign |
Het |
Clca4b |
C |
A |
3: 144,617,878 (GRCm39) |
V742L |
probably benign |
Het |
Diaph3 |
A |
T |
14: 86,893,892 (GRCm39) |
I39N |
possibly damaging |
Het |
Dll3 |
A |
T |
7: 27,993,520 (GRCm39) |
D566E |
possibly damaging |
Het |
Dmpk |
A |
G |
7: 18,826,944 (GRCm39) |
T579A |
probably benign |
Het |
E330034G19Rik |
A |
T |
14: 24,346,965 (GRCm39) |
Y84F |
possibly damaging |
Het |
Eya1 |
G |
A |
1: 14,374,691 (GRCm39) |
|
probably benign |
Het |
Fat4 |
A |
G |
3: 38,944,940 (GRCm39) |
T1278A |
possibly damaging |
Het |
Galnt12 |
A |
G |
4: 47,104,264 (GRCm39) |
D174G |
probably damaging |
Het |
Gm20939 |
T |
A |
17: 95,184,721 (GRCm39) |
H456Q |
probably damaging |
Het |
Gm7853 |
A |
G |
14: 35,811,358 (GRCm39) |
|
noncoding transcript |
Het |
Hsd3b5 |
G |
A |
3: 98,529,375 (GRCm39) |
A85V |
probably benign |
Het |
Itga11 |
A |
G |
9: 62,676,560 (GRCm39) |
K916R |
probably benign |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Krt6a |
T |
C |
15: 101,599,801 (GRCm39) |
Y437C |
probably damaging |
Het |
Lrp5 |
A |
G |
19: 3,665,849 (GRCm39) |
S707P |
probably damaging |
Het |
Mmp11 |
C |
T |
10: 75,762,948 (GRCm39) |
|
probably benign |
Het |
Mtus2 |
A |
G |
5: 148,168,637 (GRCm39) |
H950R |
probably damaging |
Het |
Myo1g |
G |
T |
11: 6,464,527 (GRCm39) |
T511K |
possibly damaging |
Het |
Myo7a |
A |
G |
7: 97,701,499 (GRCm39) |
F2154S |
probably damaging |
Het |
Or11h4 |
A |
G |
14: 50,974,271 (GRCm39) |
V116A |
probably benign |
Het |
Or5b101 |
G |
C |
19: 13,005,411 (GRCm39) |
A94G |
probably benign |
Het |
Or8h8 |
C |
T |
2: 86,752,950 (GRCm39) |
E309K |
probably benign |
Het |
Prss52 |
G |
T |
14: 64,350,992 (GRCm39) |
W259L |
probably damaging |
Het |
Sbk2 |
G |
A |
7: 4,960,526 (GRCm39) |
R215* |
probably null |
Het |
Sectm1a |
A |
G |
11: 120,959,603 (GRCm39) |
I175T |
probably benign |
Het |
Smu1 |
T |
A |
4: 40,754,529 (GRCm39) |
R123S |
possibly damaging |
Het |
Stk3 |
A |
G |
15: 35,008,387 (GRCm39) |
S178P |
possibly damaging |
Het |
Tle6 |
T |
C |
10: 81,431,038 (GRCm39) |
|
probably null |
Het |
Vmn2r37 |
C |
T |
7: 9,220,713 (GRCm39) |
M383I |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CGCAAAGTGAGTGAGCTAGACC -3'
(R):5'- TGCAGAGTAGCCCTTAGTCC -3'
Sequencing Primer
(F):5'- GTGAGCTAGACCATAAGTACTGTTC -3'
(R):5'- CCAGACCCTTCAGCTAAAAGTG -3'
|
Posted On |
2015-02-05 |