Incidental Mutation 'IGL01062:Med17'
| ID |
51855 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Med17
|
| Ensembl Gene |
ENSMUSG00000031935 |
| Gene Name |
mediator complex subunit 17 |
| Synonyms |
Trap80, C330002H14Rik, Crsp6 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
IGL01062
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
15260351-15279931 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 15279621 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 58
(E58G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150968
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034411]
[ENSMUST00000034414]
[ENSMUST00000178977]
[ENSMUST00000180339]
[ENSMUST00000216406]
[ENSMUST00000216955]
|
| AlphaFold |
Q8VCD5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034411
AA Change: E58G
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000034411
Gene: ENSMUSG00000031935
AA Change: E58G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
82 |
N/A |
INTRINSIC |
|
Pfam:Med17
|
123 |
452 |
8.5e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034414
|
| SMART Domains |
Protein: ENSMUSP00000034414
Gene: ENSMUSG00000031938
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1907
|
19 |
303 |
3.83e-200 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178977
|
| SMART Domains |
Protein: ENSMUSP00000136335
Gene: ENSMUSG00000031938
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1907
|
19 |
303 |
3.83e-200 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180339
|
| SMART Domains |
Protein: ENSMUSP00000136717
Gene: ENSMUSG00000031938
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1907
|
19 |
303 |
3.83e-200 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216406
AA Change: E58G
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216955
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110017D15Rik |
T |
A |
4: 41,511,433 (GRCm38) |
E93D |
probably damaging |
Het |
| Aen |
G |
A |
7: 78,907,302 (GRCm38) |
M299I |
probably damaging |
Het |
| Amer3 |
A |
G |
1: 34,586,739 (GRCm38) |
K20E |
probably damaging |
Het |
| Arhgap31 |
A |
G |
16: 38,601,456 (GRCm38) |
L1416P |
probably damaging |
Het |
| Avpr1a |
G |
A |
10: 122,449,529 (GRCm38) |
C242Y |
probably damaging |
Het |
| Bclaf3 |
T |
C |
X: 159,553,419 (GRCm38) |
Y281H |
probably benign |
Het |
| Cdc14a |
T |
A |
3: 116,274,712 (GRCm38) |
|
probably benign |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm38) |
S162N |
probably damaging |
Het |
| Cntn4 |
T |
C |
6: 106,618,278 (GRCm38) |
|
probably benign |
Het |
| Cyp3a44 |
T |
A |
5: 145,794,339 (GRCm38) |
D217V |
possibly damaging |
Het |
| Eprs |
A |
G |
1: 185,379,615 (GRCm38) |
E274G |
probably benign |
Het |
| Ercc6l2 |
G |
T |
13: 63,847,454 (GRCm38) |
Q354H |
probably null |
Het |
| Glb1l |
A |
T |
1: 75,201,238 (GRCm38) |
I392N |
probably damaging |
Het |
| Gm3173 |
T |
C |
14: 4,514,887 (GRCm38) |
|
probably null |
Het |
| Grasp |
A |
G |
15: 101,228,896 (GRCm38) |
|
probably benign |
Het |
| Hadh |
C |
T |
3: 131,240,991 (GRCm38) |
V219M |
probably damaging |
Het |
| Hspb9 |
A |
G |
11: 100,713,935 (GRCm38) |
H29R |
possibly damaging |
Het |
| Iqgap3 |
G |
T |
3: 88,110,122 (GRCm38) |
V240L |
probably benign |
Het |
| Jmjd1c |
T |
C |
10: 67,226,715 (GRCm38) |
S1616P |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 119,076,980 (GRCm38) |
I1662V |
probably benign |
Het |
| Mapre3 |
A |
G |
5: 30,864,896 (GRCm38) |
I236V |
probably benign |
Het |
| Myh6 |
T |
C |
14: 54,952,292 (GRCm38) |
E1099G |
probably damaging |
Het |
| Myt1 |
T |
A |
2: 181,797,729 (GRCm38) |
V348D |
probably damaging |
Het |
| Nat10 |
A |
T |
2: 103,743,048 (GRCm38) |
I368N |
probably damaging |
Het |
| Nol6 |
T |
C |
4: 41,118,205 (GRCm38) |
I811V |
probably benign |
Het |
| Oas1d |
C |
A |
5: 120,919,064 (GRCm38) |
Y244* |
probably null |
Het |
| Olfr49 |
A |
T |
14: 54,282,724 (GRCm38) |
M57K |
probably damaging |
Het |
| Osbpl1a |
A |
G |
18: 12,905,075 (GRCm38) |
V273A |
probably benign |
Het |
| Pigw |
T |
C |
11: 84,877,943 (GRCm38) |
R187G |
probably benign |
Het |
| Plekhg5 |
G |
A |
4: 152,108,496 (GRCm38) |
D603N |
probably damaging |
Het |
| Ptprk |
T |
C |
10: 28,580,418 (GRCm38) |
V1058A |
probably damaging |
Het |
| Robo4 |
G |
A |
9: 37,406,000 (GRCm38) |
S537N |
probably benign |
Het |
| Rptn |
T |
A |
3: 93,397,182 (GRCm38) |
F607L |
probably benign |
Het |
| Sall1 |
A |
G |
8: 89,033,344 (GRCm38) |
V44A |
probably damaging |
Het |
| Sh3bp4 |
C |
A |
1: 89,143,960 (GRCm38) |
Q177K |
probably benign |
Het |
| Srrt |
C |
A |
5: 137,296,307 (GRCm38) |
G779V |
probably damaging |
Het |
| Tex21 |
T |
C |
12: 76,198,944 (GRCm38) |
D526G |
probably benign |
Het |
| Tmem57 |
A |
T |
4: 134,833,297 (GRCm38) |
V125E |
probably damaging |
Het |
| Ttc37 |
T |
A |
13: 76,155,462 (GRCm38) |
L1225* |
probably null |
Het |
| Vmn1r10 |
A |
G |
6: 57,113,836 (GRCm38) |
S138G |
possibly damaging |
Het |
| Yars2 |
C |
T |
16: 16,306,542 (GRCm38) |
R338* |
probably null |
Het |
| Zfp454 |
T |
C |
11: 50,874,206 (GRCm38) |
E22G |
probably benign |
Het |
| Zzef1 |
T |
A |
11: 72,874,969 (GRCm38) |
C1441S |
probably benign |
Het |
|
| Other mutations in Med17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02263:Med17
|
APN |
9 |
15,267,476 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02390:Med17
|
APN |
9 |
15,277,667 (GRCm38) |
nonsense |
probably null |
|
|
IGL02391:Med17
|
APN |
9 |
15,277,667 (GRCm38) |
nonsense |
probably null |
|
|
IGL02392:Med17
|
APN |
9 |
15,277,667 (GRCm38) |
nonsense |
probably null |
|
|
IGL02393:Med17
|
APN |
9 |
15,277,667 (GRCm38) |
nonsense |
probably null |
|
|
IGL02591:Med17
|
APN |
9 |
15,270,361 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02635:Med17
|
APN |
9 |
15,274,549 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02745:Med17
|
APN |
9 |
15,265,346 (GRCm38) |
splice site |
probably benign |
|
|
IGL02815:Med17
|
APN |
9 |
15,262,267 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02897:Med17
|
APN |
9 |
15,267,534 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1448:Med17
|
UTSW |
9 |
15,275,843 (GRCm38) |
splice site |
probably null |
|
|
R2912:Med17
|
UTSW |
9 |
15,275,914 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2937:Med17
|
UTSW |
9 |
15,275,891 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3715:Med17
|
UTSW |
9 |
15,263,766 (GRCm38) |
splice site |
probably benign |
|
|
R4175:Med17
|
UTSW |
9 |
15,267,469 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4557:Med17
|
UTSW |
9 |
15,271,697 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R4701:Med17
|
UTSW |
9 |
15,270,360 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4865:Med17
|
UTSW |
9 |
15,265,372 (GRCm38) |
nonsense |
probably null |
|
|
R5169:Med17
|
UTSW |
9 |
15,277,604 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5510:Med17
|
UTSW |
9 |
15,270,404 (GRCm38) |
missense |
probably benign |
|
|
R6326:Med17
|
UTSW |
9 |
15,279,558 (GRCm38) |
missense |
probably benign |
0.32 |
|
R6393:Med17
|
UTSW |
9 |
15,274,583 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6598:Med17
|
UTSW |
9 |
15,271,700 (GRCm38) |
missense |
probably benign |
0.29 |
|
R7722:Med17
|
UTSW |
9 |
15,271,691 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8181:Med17
|
UTSW |
9 |
15,277,632 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R8348:Med17
|
UTSW |
9 |
15,262,439 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R8377:Med17
|
UTSW |
9 |
15,262,359 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8448:Med17
|
UTSW |
9 |
15,262,439 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R8754:Med17
|
UTSW |
9 |
15,277,600 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R9409:Med17
|
UTSW |
9 |
15,265,399 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9655:Med17
|
UTSW |
9 |
15,265,423 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
| Posted On |
2013-06-21 |
Incidental Mutation