Incidental Mutation 'IGL02897:Med17'
ID |
363441 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Med17
|
Ensembl Gene |
ENSMUSG00000031935 |
Gene Name |
mediator complex subunit 17 |
Synonyms |
Crsp6, C330002H14Rik, Trap80 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.966)
|
Stock # |
IGL02897
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
15171647-15191227 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 15178830 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 447
(D447A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034411
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034411]
[ENSMUST00000213788]
[ENSMUST00000216406]
|
AlphaFold |
Q8VCD5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034411
AA Change: D447A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000034411 Gene: ENSMUSG00000031935 AA Change: D447A
Domain | Start | End | E-Value | Type |
low complexity region
|
51 |
82 |
N/A |
INTRINSIC |
Pfam:Med17
|
123 |
452 |
8.5e-13 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213356
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213788
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216406
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700093K21Rik |
T |
A |
11: 23,467,308 (GRCm39) |
E108D |
probably benign |
Het |
Abca7 |
T |
C |
10: 79,837,426 (GRCm39) |
F437L |
probably damaging |
Het |
Abi2 |
T |
C |
1: 60,487,353 (GRCm39) |
V134A |
probably damaging |
Het |
Ablim2 |
T |
C |
5: 35,990,470 (GRCm39) |
I75T |
probably damaging |
Het |
Aldh1a3 |
A |
G |
7: 66,077,075 (GRCm39) |
V29A |
probably benign |
Het |
Bptf |
T |
C |
11: 106,937,947 (GRCm39) |
K2715E |
probably damaging |
Het |
Cd163 |
A |
T |
6: 124,302,486 (GRCm39) |
S1017C |
probably damaging |
Het |
Cdc14b |
T |
C |
13: 64,395,067 (GRCm39) |
I76V |
probably benign |
Het |
Cers6 |
T |
A |
2: 68,764,877 (GRCm39) |
C63* |
probably null |
Het |
Chd9 |
T |
C |
8: 91,660,496 (GRCm39) |
|
probably benign |
Het |
Col19a1 |
T |
C |
1: 24,573,179 (GRCm39) |
N198D |
unknown |
Het |
Cse1l |
T |
C |
2: 166,761,628 (GRCm39) |
C61R |
possibly damaging |
Het |
Cubn |
T |
C |
2: 13,323,123 (GRCm39) |
T2815A |
possibly damaging |
Het |
Cyp19a1 |
G |
T |
9: 54,074,195 (GRCm39) |
T453K |
possibly damaging |
Het |
Dlg1 |
G |
T |
16: 31,590,674 (GRCm39) |
|
probably null |
Het |
Dpp7 |
T |
C |
2: 25,243,684 (GRCm39) |
Y339C |
probably damaging |
Het |
Dtl |
T |
C |
1: 191,273,656 (GRCm39) |
|
probably benign |
Het |
Gm5591 |
T |
C |
7: 38,219,466 (GRCm39) |
E469G |
probably damaging |
Het |
Ing3 |
T |
A |
6: 21,969,325 (GRCm39) |
V202E |
probably benign |
Het |
Inpp5j |
A |
G |
11: 3,450,619 (GRCm39) |
L578P |
probably damaging |
Het |
Irak4 |
A |
G |
15: 94,451,872 (GRCm39) |
N155S |
probably benign |
Het |
Kif2b |
A |
T |
11: 91,467,045 (GRCm39) |
S413T |
probably damaging |
Het |
L3mbtl1 |
A |
T |
2: 162,807,692 (GRCm39) |
Y490F |
probably damaging |
Het |
Med26 |
T |
C |
8: 73,250,365 (GRCm39) |
T245A |
probably benign |
Het |
Nlrc3 |
A |
T |
16: 3,781,938 (GRCm39) |
S490R |
possibly damaging |
Het |
Nme5 |
A |
G |
18: 34,702,956 (GRCm39) |
|
probably benign |
Het |
Or51aa5 |
T |
C |
7: 103,167,337 (GRCm39) |
R85G |
probably benign |
Het |
Rnf10 |
G |
T |
5: 115,386,700 (GRCm39) |
Q530K |
probably benign |
Het |
Robo3 |
A |
T |
9: 37,338,798 (GRCm39) |
Y281* |
probably null |
Het |
Sclt1 |
T |
C |
3: 41,629,822 (GRCm39) |
I330V |
probably benign |
Het |
Smim14 |
A |
T |
5: 65,607,739 (GRCm39) |
|
probably benign |
Het |
Trank1 |
T |
G |
9: 111,196,585 (GRCm39) |
H1536Q |
probably damaging |
Het |
Tspan18 |
A |
G |
2: 93,050,518 (GRCm39) |
L35P |
possibly damaging |
Het |
Ubr4 |
G |
A |
4: 139,199,819 (GRCm39) |
V4568M |
probably damaging |
Het |
Vmn1r63 |
A |
G |
7: 5,805,744 (GRCm39) |
V296A |
possibly damaging |
Het |
|
Other mutations in Med17 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01062:Med17
|
APN |
9 |
15,190,917 (GRCm39) |
missense |
probably benign |
0.19 |
IGL02263:Med17
|
APN |
9 |
15,178,772 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02390:Med17
|
APN |
9 |
15,188,963 (GRCm39) |
nonsense |
probably null |
|
IGL02391:Med17
|
APN |
9 |
15,188,963 (GRCm39) |
nonsense |
probably null |
|
IGL02392:Med17
|
APN |
9 |
15,188,963 (GRCm39) |
nonsense |
probably null |
|
IGL02393:Med17
|
APN |
9 |
15,188,963 (GRCm39) |
nonsense |
probably null |
|
IGL02591:Med17
|
APN |
9 |
15,181,657 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02635:Med17
|
APN |
9 |
15,185,845 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02745:Med17
|
APN |
9 |
15,176,642 (GRCm39) |
splice site |
probably benign |
|
IGL02815:Med17
|
APN |
9 |
15,173,563 (GRCm39) |
missense |
probably damaging |
1.00 |
R1448:Med17
|
UTSW |
9 |
15,187,139 (GRCm39) |
splice site |
probably null |
|
R2912:Med17
|
UTSW |
9 |
15,187,210 (GRCm39) |
missense |
probably damaging |
1.00 |
R2937:Med17
|
UTSW |
9 |
15,187,187 (GRCm39) |
missense |
probably damaging |
0.99 |
R3715:Med17
|
UTSW |
9 |
15,175,062 (GRCm39) |
splice site |
probably benign |
|
R4175:Med17
|
UTSW |
9 |
15,178,765 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4557:Med17
|
UTSW |
9 |
15,182,993 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4701:Med17
|
UTSW |
9 |
15,181,656 (GRCm39) |
missense |
probably damaging |
1.00 |
R4865:Med17
|
UTSW |
9 |
15,176,668 (GRCm39) |
nonsense |
probably null |
|
R5169:Med17
|
UTSW |
9 |
15,188,900 (GRCm39) |
missense |
probably benign |
0.03 |
R5510:Med17
|
UTSW |
9 |
15,181,700 (GRCm39) |
missense |
probably benign |
|
R6326:Med17
|
UTSW |
9 |
15,190,854 (GRCm39) |
missense |
probably benign |
0.32 |
R6393:Med17
|
UTSW |
9 |
15,185,879 (GRCm39) |
missense |
probably damaging |
1.00 |
R6598:Med17
|
UTSW |
9 |
15,182,996 (GRCm39) |
missense |
probably benign |
0.29 |
R7722:Med17
|
UTSW |
9 |
15,182,987 (GRCm39) |
missense |
probably benign |
0.01 |
R8181:Med17
|
UTSW |
9 |
15,188,928 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8348:Med17
|
UTSW |
9 |
15,173,735 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8377:Med17
|
UTSW |
9 |
15,173,655 (GRCm39) |
missense |
probably damaging |
1.00 |
R8448:Med17
|
UTSW |
9 |
15,173,735 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8754:Med17
|
UTSW |
9 |
15,188,896 (GRCm39) |
missense |
possibly damaging |
0.73 |
R9409:Med17
|
UTSW |
9 |
15,176,695 (GRCm39) |
missense |
probably benign |
0.00 |
R9655:Med17
|
UTSW |
9 |
15,176,719 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Posted On |
2015-12-18 |