Incidental Mutation 'IGL01886:Med27'
ID |
179137 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Med27
|
Ensembl Gene |
ENSMUSG00000026799 |
Gene Name |
mediator complex subunit 27 |
Synonyms |
Crsp8, 1500015J03Rik, 2310042P07Rik, D2Ertd434e |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.951)
|
Stock # |
IGL01886
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
29236831-29414805 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 29303494 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Glutamine
at position 9
(P9Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124233
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028139]
[ENSMUST00000113830]
[ENSMUST00000159034]
[ENSMUST00000159280]
[ENSMUST00000162597]
[ENSMUST00000162623]
|
AlphaFold |
Q9DB40 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028139
AA Change: P148Q
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000028139 Gene: ENSMUSG00000026799 AA Change: P148Q
Domain | Start | End | E-Value | Type |
Pfam:Med27
|
228 |
310 |
7.2e-30 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113830
AA Change: P148Q
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123522
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159034
AA Change: P9Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159280
AA Change: P9Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000125390 Gene: ENSMUSG00000026799 AA Change: P9Q
Domain | Start | End | E-Value | Type |
Pfam:Med27
|
85 |
171 |
1.4e-29 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162597
AA Change: P9Q
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162623
AA Change: P9Q
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000162603
AA Change: P92Q
|
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. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Dec 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akt1 |
C |
T |
12: 112,625,592 (GRCm39) |
V136M |
probably benign |
Het |
Ankrd34c |
A |
T |
9: 89,612,318 (GRCm39) |
L8M |
possibly damaging |
Het |
Anks6 |
C |
A |
4: 47,044,850 (GRCm39) |
W352L |
probably damaging |
Het |
Arhgap12 |
A |
T |
18: 6,027,613 (GRCm39) |
N768K |
probably damaging |
Het |
Clec7a |
A |
T |
6: 129,440,140 (GRCm39) |
|
probably benign |
Het |
Cyp3a13 |
G |
A |
5: 137,897,082 (GRCm39) |
P411S |
probably damaging |
Het |
Elavl2 |
A |
G |
4: 91,152,330 (GRCm39) |
V129A |
probably damaging |
Het |
Ercc6 |
T |
A |
14: 32,291,537 (GRCm39) |
S994T |
possibly damaging |
Het |
Esco1 |
T |
A |
18: 10,595,262 (GRCm39) |
K8I |
probably damaging |
Het |
Esr1 |
T |
A |
10: 4,806,861 (GRCm39) |
I259K |
probably damaging |
Het |
Filip1l |
A |
G |
16: 57,391,613 (GRCm39) |
I734V |
possibly damaging |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Grin3a |
T |
A |
4: 49,702,814 (GRCm39) |
I891F |
probably damaging |
Het |
Kat7 |
T |
C |
11: 95,196,959 (GRCm39) |
T27A |
probably benign |
Het |
Kdm1a |
A |
G |
4: 136,288,327 (GRCm39) |
|
probably null |
Het |
Kifc5b |
T |
C |
17: 27,151,091 (GRCm39) |
V663A |
probably damaging |
Het |
Lama1 |
T |
G |
17: 68,114,792 (GRCm39) |
S2314A |
probably benign |
Het |
Lrrc69 |
C |
T |
4: 14,703,984 (GRCm39) |
V279I |
probably benign |
Het |
Mast3 |
A |
T |
8: 71,234,783 (GRCm39) |
L774Q |
possibly damaging |
Het |
Myo5a |
C |
A |
9: 75,076,372 (GRCm39) |
|
probably benign |
Het |
Myoz1 |
T |
C |
14: 20,705,377 (GRCm39) |
K14E |
probably damaging |
Het |
Neb |
T |
C |
2: 52,073,857 (GRCm39) |
|
probably benign |
Het |
Nlrp1a |
T |
C |
11: 71,014,327 (GRCm39) |
T308A |
probably benign |
Het |
Or1l4b |
A |
G |
2: 37,036,521 (GRCm39) |
Y99C |
probably damaging |
Het |
Or8d2b |
G |
T |
9: 38,788,844 (GRCm39) |
C124F |
probably damaging |
Het |
Orc1 |
T |
A |
4: 108,461,154 (GRCm39) |
|
probably null |
Het |
Pnkp |
G |
A |
7: 44,511,631 (GRCm39) |
A76T |
probably damaging |
Het |
Polr3h |
T |
C |
15: 81,801,591 (GRCm39) |
E95G |
probably damaging |
Het |
Prpf40b |
T |
A |
15: 99,202,328 (GRCm39) |
M62K |
unknown |
Het |
Prpf8 |
C |
A |
11: 75,386,570 (GRCm39) |
Q1075K |
probably benign |
Het |
Ptprg |
A |
G |
14: 12,179,280 (GRCm38) |
K766E |
probably benign |
Het |
Rabgap1l |
A |
T |
1: 160,169,612 (GRCm39) |
N778K |
probably damaging |
Het |
Riok3 |
T |
A |
18: 12,272,442 (GRCm39) |
N204K |
probably damaging |
Het |
Shank3 |
A |
G |
15: 89,415,866 (GRCm39) |
K650E |
probably damaging |
Het |
Sim1 |
T |
A |
10: 50,860,411 (GRCm39) |
S758T |
probably damaging |
Het |
Slu7 |
T |
G |
11: 43,330,087 (GRCm39) |
N171K |
probably damaging |
Het |
Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
Sult6b2 |
A |
G |
6: 142,735,852 (GRCm39) |
|
probably null |
Het |
Taf6l |
C |
T |
19: 8,755,450 (GRCm39) |
|
probably null |
Het |
Ubtfl1 |
G |
A |
9: 18,321,017 (GRCm39) |
V182M |
possibly damaging |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Med27 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0427:Med27
|
UTSW |
2 |
29,390,283 (GRCm39) |
missense |
probably damaging |
1.00 |
R1769:Med27
|
UTSW |
2 |
29,390,307 (GRCm39) |
missense |
probably damaging |
0.99 |
R2126:Med27
|
UTSW |
2 |
29,414,442 (GRCm39) |
nonsense |
probably null |
|
R3196:Med27
|
UTSW |
2 |
29,236,882 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4093:Med27
|
UTSW |
2 |
29,267,920 (GRCm39) |
unclassified |
probably benign |
|
R4498:Med27
|
UTSW |
2 |
29,361,354 (GRCm39) |
missense |
probably damaging |
0.99 |
R4599:Med27
|
UTSW |
2 |
29,414,470 (GRCm39) |
missense |
probably damaging |
1.00 |
R4722:Med27
|
UTSW |
2 |
29,414,447 (GRCm39) |
missense |
probably damaging |
0.98 |
R4771:Med27
|
UTSW |
2 |
29,303,515 (GRCm39) |
missense |
probably damaging |
1.00 |
R4828:Med27
|
UTSW |
2 |
29,267,950 (GRCm39) |
unclassified |
probably benign |
|
R5870:Med27
|
UTSW |
2 |
29,279,823 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6061:Med27
|
UTSW |
2 |
29,399,453 (GRCm39) |
missense |
probably damaging |
0.99 |
R6159:Med27
|
UTSW |
2 |
29,414,376 (GRCm39) |
splice site |
probably null |
|
R7028:Med27
|
UTSW |
2 |
29,399,446 (GRCm39) |
nonsense |
probably null |
|
R7319:Med27
|
UTSW |
2 |
29,303,490 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7387:Med27
|
UTSW |
2 |
29,303,419 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7671:Med27
|
UTSW |
2 |
29,267,950 (GRCm39) |
missense |
|
|
R8255:Med27
|
UTSW |
2 |
29,414,376 (GRCm39) |
splice site |
probably null |
|
R8969:Med27
|
UTSW |
2 |
29,236,875 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9026:Med27
|
UTSW |
2 |
29,399,446 (GRCm39) |
nonsense |
probably null |
|
R9194:Med27
|
UTSW |
2 |
29,361,312 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2014-05-07 |