Incidental Mutation 'IGL02391:Med17'
ID |
293870 |
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 # |
IGL02391
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
15171647-15191227 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 15188963 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 101
(R101*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034411
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034411]
[ENSMUST00000216406]
|
AlphaFold |
Q8VCD5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000034411
AA Change: R101*
|
SMART Domains |
Protein: ENSMUSP00000034411 Gene: ENSMUSG00000031935 AA Change: R101*
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: 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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc4 |
T |
A |
14: 118,790,764 (GRCm39) |
N748Y |
probably damaging |
Het |
Actbl2 |
A |
G |
13: 111,391,701 (GRCm39) |
D12G |
possibly damaging |
Het |
Adamts10 |
T |
C |
17: 33,747,785 (GRCm39) |
S74P |
probably benign |
Het |
Adprs |
C |
T |
4: 126,211,701 (GRCm39) |
|
probably benign |
Het |
Amn1 |
A |
G |
6: 149,070,944 (GRCm39) |
|
probably null |
Het |
Antxr1 |
A |
T |
6: 87,264,038 (GRCm39) |
I144N |
probably damaging |
Het |
Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
Cabp5 |
A |
T |
7: 13,132,269 (GRCm39) |
R13* |
probably null |
Het |
Cacna1e |
A |
G |
1: 154,296,859 (GRCm39) |
Y1669H |
probably damaging |
Het |
Ccdc174 |
A |
G |
6: 91,875,263 (GRCm39) |
E364G |
possibly damaging |
Het |
Ccdc18 |
C |
T |
5: 108,283,918 (GRCm39) |
P74S |
probably damaging |
Het |
Clec3a |
C |
T |
8: 115,152,240 (GRCm39) |
S82L |
probably benign |
Het |
Cnih3 |
A |
G |
1: 181,234,078 (GRCm39) |
D43G |
probably damaging |
Het |
Dpp10 |
G |
A |
1: 123,578,087 (GRCm39) |
T128M |
probably damaging |
Het |
Edar |
A |
T |
10: 58,464,403 (GRCm39) |
F79I |
probably damaging |
Het |
Eif2ak4 |
T |
A |
2: 118,251,272 (GRCm39) |
H199Q |
probably benign |
Het |
Fermt1 |
A |
G |
2: 132,783,871 (GRCm39) |
L46P |
probably damaging |
Het |
Glipr1 |
A |
G |
10: 111,824,799 (GRCm39) |
|
probably benign |
Het |
Gsdmc |
T |
C |
15: 63,675,428 (GRCm39) |
N129S |
probably damaging |
Het |
Ift88 |
T |
C |
14: 57,718,871 (GRCm39) |
S619P |
possibly damaging |
Het |
Itga9 |
T |
A |
9: 118,679,873 (GRCm39) |
V262E |
probably benign |
Het |
Mta1 |
T |
A |
12: 113,100,203 (GRCm39) |
I688N |
possibly damaging |
Het |
Muc4 |
A |
T |
16: 32,570,894 (GRCm39) |
R651S |
probably benign |
Het |
Opcml |
A |
G |
9: 28,586,560 (GRCm39) |
I93V |
probably damaging |
Het |
Or12d17 |
C |
T |
17: 37,777,477 (GRCm39) |
P127S |
probably damaging |
Het |
Or13p4 |
A |
G |
4: 118,547,538 (GRCm39) |
L37P |
probably damaging |
Het |
Or9r7 |
A |
G |
10: 129,962,773 (GRCm39) |
V51A |
possibly damaging |
Het |
Parg |
T |
G |
14: 31,984,638 (GRCm39) |
|
probably null |
Het |
Rps3a3 |
A |
G |
13: 108,807,417 (GRCm39) |
|
probably benign |
Het |
Safb |
T |
A |
17: 56,907,813 (GRCm39) |
|
probably benign |
Het |
Sat2 |
G |
T |
11: 69,513,575 (GRCm39) |
C54F |
probably damaging |
Het |
Scin |
T |
A |
12: 40,127,530 (GRCm39) |
Y420F |
probably benign |
Het |
Slc22a29 |
A |
T |
19: 8,146,717 (GRCm39) |
S362T |
probably benign |
Het |
Smchd1 |
T |
C |
17: 71,738,254 (GRCm39) |
D537G |
probably null |
Het |
Spred3 |
A |
G |
7: 28,865,830 (GRCm39) |
S126P |
probably benign |
Het |
Ssh1 |
C |
T |
5: 114,080,578 (GRCm39) |
E951K |
probably damaging |
Het |
Ssmem1 |
A |
G |
6: 30,512,441 (GRCm39) |
E28G |
possibly damaging |
Het |
Stox1 |
A |
T |
10: 62,495,455 (GRCm39) |
|
probably benign |
Het |
Syn3 |
T |
C |
10: 85,900,770 (GRCm39) |
I373V |
probably benign |
Het |
Tecrl |
A |
T |
5: 83,502,674 (GRCm39) |
F58L |
probably benign |
Het |
Trp53bp1 |
T |
C |
2: 121,033,191 (GRCm39) |
N1655S |
possibly damaging |
Het |
Usp2 |
G |
T |
9: 44,002,524 (GRCm39) |
Q147H |
probably damaging |
Het |
Usp24 |
T |
A |
4: 106,264,326 (GRCm39) |
N1751K |
possibly damaging |
Het |
Wipf1 |
T |
A |
2: 73,264,487 (GRCm39) |
D438V |
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 |
|
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 |