Incidental Mutation 'IGL02815:Med17'
| ID |
360762 |
| 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 # |
IGL02815
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
15171647-15191227 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 15173563 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 637
(M637R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034411
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034411]
[ENSMUST00000034413]
[ENSMUST00000213788]
|
| AlphaFold |
Q8VCD5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034411
AA Change: M637R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000034411
Gene: ENSMUSG00000031935
AA Change: M637R
| 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: ENSMUST00000034413
|
| SMART Domains |
Protein: ENSMUSP00000034413
Gene: ENSMUSG00000031937
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
IG
|
39 |
138 |
2e-3 |
SMART |
|
transmembrane domain
|
147 |
169 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213788
AA Change: M187R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009J06Rik |
A |
T |
6: 40,941,729 (GRCm39) |
I3F |
probably benign |
Het |
| Alms1 |
G |
A |
6: 85,644,939 (GRCm39) |
|
probably null |
Het |
| Ap3m1 |
T |
C |
14: 21,086,750 (GRCm39) |
D393G |
probably damaging |
Het |
| Arfgef3 |
T |
A |
10: 18,528,299 (GRCm39) |
I363F |
probably damaging |
Het |
| Col19a1 |
T |
A |
1: 24,324,332 (GRCm39) |
|
probably null |
Het |
| Csnk2a1 |
G |
T |
2: 152,116,005 (GRCm39) |
|
probably benign |
Het |
| Dnmt3a |
G |
A |
12: 3,954,226 (GRCm39) |
|
probably null |
Het |
| Emc2 |
T |
A |
15: 43,371,326 (GRCm39) |
|
probably benign |
Het |
| Epm2aip1 |
T |
C |
9: 111,102,628 (GRCm39) |
S534P |
probably benign |
Het |
| Farp2 |
A |
C |
1: 93,488,007 (GRCm39) |
N78T |
probably damaging |
Het |
| Fut8 |
T |
A |
12: 77,411,857 (GRCm39) |
N106K |
probably benign |
Het |
| Gc |
A |
G |
5: 89,605,518 (GRCm39) |
|
probably null |
Het |
| Gemin5 |
T |
C |
11: 58,037,235 (GRCm39) |
Y660C |
probably damaging |
Het |
| Gfpt2 |
T |
A |
11: 49,714,084 (GRCm39) |
D280E |
possibly damaging |
Het |
| Il16 |
T |
C |
7: 83,300,249 (GRCm39) |
E348G |
probably damaging |
Het |
| Ints1 |
G |
A |
5: 139,741,037 (GRCm39) |
T1874M |
probably damaging |
Het |
| Klrb1b |
A |
G |
6: 128,797,937 (GRCm39) |
L52P |
probably damaging |
Het |
| Lamb3 |
A |
T |
1: 193,007,863 (GRCm39) |
|
probably benign |
Het |
| Myo18b |
A |
G |
5: 112,957,601 (GRCm39) |
L1454P |
probably damaging |
Het |
| Mysm1 |
A |
T |
4: 94,845,285 (GRCm39) |
|
probably null |
Het |
| Naip5 |
T |
C |
13: 100,359,239 (GRCm39) |
T666A |
probably benign |
Het |
| Nbas |
T |
A |
12: 13,360,267 (GRCm39) |
S348T |
probably damaging |
Het |
| Pex1 |
A |
T |
5: 3,686,797 (GRCm39) |
K1226M |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,176,753 (GRCm39) |
|
probably benign |
Het |
| Pigr |
T |
A |
1: 130,769,558 (GRCm39) |
V123D |
probably damaging |
Het |
| Pilra |
G |
A |
5: 137,829,567 (GRCm39) |
P163S |
probably benign |
Het |
| Plekha4 |
T |
C |
7: 45,187,836 (GRCm39) |
S303P |
probably damaging |
Het |
| Prrc2b |
A |
G |
2: 32,094,265 (GRCm39) |
E549G |
probably damaging |
Het |
| Ptchd3 |
C |
T |
11: 121,732,430 (GRCm39) |
S440L |
probably benign |
Het |
| Rock2 |
A |
G |
12: 17,016,702 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
A |
G |
2: 66,155,202 (GRCm39) |
S586P |
probably damaging |
Het |
| Slc38a6 |
T |
A |
12: 73,338,979 (GRCm39) |
H95Q |
probably damaging |
Het |
| Spata31d1d |
A |
T |
13: 59,874,678 (GRCm39) |
N952K |
possibly damaging |
Het |
| Stard10 |
T |
A |
7: 100,993,205 (GRCm39) |
C254S |
probably benign |
Het |
| Taar8a |
A |
T |
10: 23,953,278 (GRCm39) |
Y294F |
probably benign |
Het |
| Tm7sf3 |
A |
T |
6: 146,514,971 (GRCm39) |
|
probably null |
Het |
| Tnfrsf8 |
A |
T |
4: 145,025,348 (GRCm39) |
V75D |
possibly damaging |
Het |
| Tor1aip1 |
C |
T |
1: 155,911,662 (GRCm39) |
R107H |
probably damaging |
Het |
| Trpc4 |
C |
T |
3: 54,206,695 (GRCm39) |
|
probably benign |
Het |
| Unc13c |
A |
G |
9: 73,447,545 (GRCm39) |
L1885P |
possibly damaging |
Het |
| Vmn2r9 |
T |
C |
5: 108,990,856 (GRCm39) |
D835G |
possibly damaging |
Het |
| Zfp462 |
A |
T |
4: 55,051,303 (GRCm39) |
I1172F |
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 |
|
IGL02745:Med17
|
APN |
9 |
15,176,642 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2015-12-18 |
Incidental Mutation