Incidental Mutation 'IGL02591:Med17'
ID |
299737 |
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: 0.967)
|
Stock # |
IGL02591
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
15171647-15191227 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 15181657 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 31
(H31L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148980
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034411]
[ENSMUST00000213788]
[ENSMUST00000216406]
|
AlphaFold |
Q8VCD5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034411
AA Change: H435L
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000034411 Gene: ENSMUSG00000031935 AA Change: H435L
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 damaging
Transcript: ENSMUST00000213788
AA Change: H31L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921504E06Rik |
A |
T |
2: 19,485,249 (GRCm39) |
F448I |
probably benign |
Het |
Afg3l1 |
T |
C |
8: 124,212,748 (GRCm39) |
F170L |
probably damaging |
Het |
Aox1 |
A |
T |
1: 58,398,158 (GRCm39) |
R1300* |
probably null |
Het |
Cadps |
G |
A |
14: 12,473,465 (GRCm38) |
R899C |
probably damaging |
Het |
Ckap4 |
T |
C |
10: 84,364,454 (GRCm39) |
D203G |
probably damaging |
Het |
Dsg1c |
A |
G |
18: 20,408,249 (GRCm39) |
N433D |
probably damaging |
Het |
Eapp |
T |
C |
12: 54,739,607 (GRCm39) |
N70S |
probably damaging |
Het |
Eno3 |
A |
T |
11: 70,552,853 (GRCm39) |
D378V |
probably damaging |
Het |
Ep400 |
T |
A |
5: 110,881,638 (GRCm39) |
|
probably benign |
Het |
F13a1 |
T |
A |
13: 37,082,031 (GRCm39) |
I558F |
probably damaging |
Het |
Fermt1 |
A |
T |
2: 132,776,786 (GRCm39) |
M234K |
possibly damaging |
Het |
Fgfr1op2 |
A |
G |
6: 146,490,344 (GRCm39) |
Q81R |
probably damaging |
Het |
Gpm6a |
C |
T |
8: 55,511,954 (GRCm39) |
A276V |
probably damaging |
Het |
Hecw1 |
C |
A |
13: 14,531,821 (GRCm39) |
|
probably benign |
Het |
Ikbip |
G |
T |
10: 90,932,154 (GRCm39) |
C266F |
probably damaging |
Het |
Lpar2 |
C |
T |
8: 70,276,700 (GRCm39) |
A163V |
probably benign |
Het |
Or5g25 |
C |
A |
2: 85,478,487 (GRCm39) |
M59I |
probably damaging |
Het |
Otoa |
T |
C |
7: 120,755,053 (GRCm39) |
F992L |
probably damaging |
Het |
Ptprd |
T |
C |
4: 75,900,287 (GRCm39) |
H864R |
probably damaging |
Het |
Samd9l |
A |
C |
6: 3,375,760 (GRCm39) |
C500W |
possibly damaging |
Het |
Sarm1 |
A |
T |
11: 78,378,178 (GRCm39) |
Y501N |
probably damaging |
Het |
Selp |
A |
T |
1: 163,957,702 (GRCm39) |
H277L |
probably damaging |
Het |
Slc39a8 |
T |
G |
3: 135,590,381 (GRCm39) |
L358R |
probably damaging |
Het |
Spi1 |
T |
A |
2: 90,927,295 (GRCm39) |
M1K |
probably null |
Het |
Thsd1 |
A |
G |
8: 22,748,743 (GRCm39) |
E477G |
probably damaging |
Het |
Tlr1 |
C |
T |
5: 65,084,059 (GRCm39) |
V173M |
probably damaging |
Het |
Tmco2 |
C |
T |
4: 120,962,987 (GRCm39) |
D171N |
probably damaging |
Het |
Ugt2b1 |
A |
G |
5: 87,065,563 (GRCm39) |
L492P |
probably damaging |
Het |
Vmn2r70 |
A |
T |
7: 85,214,153 (GRCm39) |
I333K |
probably damaging |
Het |
Zfp598 |
C |
A |
17: 24,896,478 (GRCm39) |
P185Q |
probably damaging |
Het |
Zfp711 |
T |
A |
X: 111,542,391 (GRCm39) |
M474K |
probably benign |
Het |
Zscan18 |
T |
C |
7: 12,509,206 (GRCm39) |
|
probably benign |
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 |
|
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 |