Incidental Mutation 'IGL02263:Med17'
ID |
286820 |
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 # |
IGL02263
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
15171647-15191227 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 15178772 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 466
(N466K)
|
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: N466K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000034411 Gene: ENSMUSG00000031935 AA Change: N466K
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aff3 |
A |
G |
1: 38,574,680 (GRCm39) |
V100A |
probably damaging |
Het |
Agmo |
T |
A |
12: 37,407,696 (GRCm39) |
N193K |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 30,948,139 (GRCm39) |
I1910V |
probably benign |
Het |
Dsg2 |
T |
A |
18: 20,723,077 (GRCm39) |
S368T |
possibly damaging |
Het |
Eif2ak4 |
A |
G |
2: 118,292,259 (GRCm39) |
T1270A |
probably benign |
Het |
Ina |
T |
C |
19: 47,003,926 (GRCm39) |
S245P |
probably damaging |
Het |
Katnb1 |
A |
G |
8: 95,816,703 (GRCm39) |
K96R |
probably damaging |
Het |
Kcnj4 |
A |
G |
15: 79,369,988 (GRCm39) |
|
probably benign |
Het |
Kcnn3 |
A |
G |
3: 89,568,525 (GRCm39) |
H601R |
possibly damaging |
Het |
Lrrc25 |
C |
A |
8: 71,070,472 (GRCm39) |
F84L |
probably benign |
Het |
Ltb |
A |
G |
17: 35,414,977 (GRCm39) |
Y259C |
probably damaging |
Het |
Macc1 |
T |
G |
12: 119,409,752 (GRCm39) |
N173K |
possibly damaging |
Het |
Ncoa2 |
A |
T |
1: 13,244,987 (GRCm39) |
N570K |
probably damaging |
Het |
Or52ae9 |
A |
T |
7: 103,390,262 (GRCm39) |
F62I |
probably damaging |
Het |
Or5w1 |
A |
T |
2: 87,486,543 (GRCm39) |
C241S |
probably damaging |
Het |
Or8k20 |
T |
A |
2: 86,106,546 (GRCm39) |
Y95F |
probably benign |
Het |
Plb1 |
T |
C |
5: 32,478,692 (GRCm39) |
|
probably benign |
Het |
Ptprk |
G |
A |
10: 27,951,110 (GRCm39) |
V12I |
unknown |
Het |
Rabggta |
G |
A |
14: 55,956,418 (GRCm39) |
|
probably benign |
Het |
Slc41a2 |
A |
G |
10: 83,149,364 (GRCm39) |
V193A |
possibly damaging |
Het |
Thbs1 |
A |
G |
2: 117,950,361 (GRCm39) |
N665D |
probably benign |
Het |
Tm9sf1 |
T |
C |
14: 55,880,392 (GRCm39) |
T2A |
possibly damaging |
Het |
Traf7 |
C |
A |
17: 24,732,020 (GRCm39) |
C193F |
possibly damaging |
Het |
Vmn1r91 |
A |
G |
7: 19,835,768 (GRCm39) |
D229G |
probably benign |
Het |
Vmn2r7 |
A |
C |
3: 64,598,868 (GRCm39) |
V654G |
probably 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 |
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 |
IGL02897:Med17
|
APN |
9 |
15,178,830 (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 |
2015-04-16 |