Incidental Mutation 'IGL02745:Med17'
ID |
306141 |
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 # |
IGL02745
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
15171647-15191227 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 15176642 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148980
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034411]
[ENSMUST00000213788]
|
AlphaFold |
Q8VCD5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034411
|
SMART Domains |
Protein: ENSMUSP00000034411 Gene: ENSMUSG00000031935
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
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A4galt |
T |
C |
15: 83,112,282 (GRCm39) |
E167G |
probably benign |
Het |
Aldh1a1 |
A |
G |
19: 20,614,028 (GRCm39) |
|
probably benign |
Het |
Ankrd44 |
T |
C |
1: 54,805,950 (GRCm39) |
H152R |
probably damaging |
Het |
Bpifb4 |
T |
A |
2: 153,789,141 (GRCm39) |
L316Q |
probably damaging |
Het |
C2cd5 |
A |
T |
6: 142,987,256 (GRCm39) |
L155I |
probably benign |
Het |
Chrdl2 |
T |
A |
7: 99,670,170 (GRCm39) |
C98S |
probably damaging |
Het |
Clnk |
A |
G |
5: 38,893,662 (GRCm39) |
S232P |
probably benign |
Het |
Csf3 |
A |
G |
11: 98,593,303 (GRCm39) |
D140G |
probably damaging |
Het |
Dnah7b |
T |
A |
1: 46,234,189 (GRCm39) |
|
probably benign |
Het |
Fetub |
T |
C |
16: 22,756,676 (GRCm39) |
V259A |
probably damaging |
Het |
Gga2 |
G |
T |
7: 121,607,592 (GRCm39) |
R108S |
probably damaging |
Het |
Hip1r |
C |
A |
5: 124,129,002 (GRCm39) |
|
probably null |
Het |
Hsd17b3 |
A |
G |
13: 64,234,990 (GRCm39) |
F62L |
probably benign |
Het |
Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
Man1a |
C |
T |
10: 53,853,206 (GRCm39) |
R304Q |
probably damaging |
Het |
Mrgprb4 |
T |
C |
7: 47,848,106 (GRCm39) |
Y274C |
probably damaging |
Het |
Myh8 |
C |
T |
11: 67,188,327 (GRCm39) |
T996I |
possibly damaging |
Het |
Niban3 |
G |
T |
8: 72,057,682 (GRCm39) |
|
probably null |
Het |
Nlrp4e |
T |
A |
7: 23,020,716 (GRCm39) |
L401Q |
probably damaging |
Het |
Oas1h |
G |
A |
5: 120,999,542 (GRCm39) |
R9Q |
probably benign |
Het |
Or4c111 |
A |
G |
2: 88,844,232 (GRCm39) |
Y59H |
probably damaging |
Het |
Or4d10b |
C |
T |
19: 12,036,565 (GRCm39) |
V184I |
probably benign |
Het |
Or8g51 |
T |
C |
9: 38,609,494 (GRCm39) |
H56R |
probably damaging |
Het |
Otor |
A |
G |
2: 142,923,076 (GRCm39) |
D122G |
possibly damaging |
Het |
Pcdh18 |
T |
A |
3: 49,710,340 (GRCm39) |
Q325L |
probably damaging |
Het |
Ppfibp1 |
T |
C |
6: 146,923,852 (GRCm39) |
|
probably benign |
Het |
Pramel16 |
A |
T |
4: 143,677,294 (GRCm39) |
L95Q |
probably damaging |
Het |
Prlr |
T |
A |
15: 10,328,680 (GRCm39) |
I385N |
possibly damaging |
Het |
Rap1gds1 |
A |
G |
3: 138,662,002 (GRCm39) |
V418A |
probably damaging |
Het |
Rdh1 |
A |
T |
10: 127,601,288 (GRCm39) |
T279S |
probably benign |
Het |
Slc17a3 |
C |
A |
13: 24,026,469 (GRCm39) |
Q13K |
probably benign |
Het |
Slc22a20 |
T |
C |
19: 6,022,901 (GRCm39) |
N414S |
probably damaging |
Het |
Slc4a1 |
C |
A |
11: 102,247,093 (GRCm39) |
C498F |
probably damaging |
Het |
Sp8 |
G |
A |
12: 118,813,326 (GRCm39) |
G394S |
probably damaging |
Het |
Ssh2 |
C |
T |
11: 77,346,233 (GRCm39) |
T1406I |
probably damaging |
Het |
Stra6 |
T |
A |
9: 58,059,321 (GRCm39) |
D561E |
probably damaging |
Het |
Stxbp5l |
G |
A |
16: 37,007,016 (GRCm39) |
Q726* |
probably null |
Het |
Synpo2 |
G |
A |
3: 122,907,261 (GRCm39) |
T685I |
probably damaging |
Het |
Tasor2 |
A |
T |
13: 3,635,140 (GRCm39) |
S556T |
probably benign |
Het |
Ttc27 |
A |
G |
17: 75,046,728 (GRCm39) |
D263G |
probably benign |
Het |
Ttn |
G |
A |
2: 76,594,332 (GRCm39) |
P18793S |
possibly damaging |
Het |
Vmn2r109 |
A |
G |
17: 20,761,512 (GRCm39) |
V615A |
probably damaging |
Het |
Vmn2r76 |
T |
G |
7: 85,879,495 (GRCm39) |
K268N |
probably benign |
Het |
Zeb2 |
A |
G |
2: 44,884,487 (GRCm39) |
|
probably benign |
Het |
Zfp286 |
C |
A |
11: 62,671,700 (GRCm39) |
K124N |
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 |
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 |
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 |