Incidental Mutation 'R6061:Med27'
| ID |
483216 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Med27
|
| Ensembl Gene |
ENSMUSG00000026799 |
| Gene Name |
mediator complex subunit 27 |
| Synonyms |
Crsp8, 1500015J03Rik, 2310042P07Rik, D2Ertd434e |
| MMRRC Submission |
044226-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.951)
|
| Stock # |
R6061 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
29236831-29414805 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 29399453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 95
(S95T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125360
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028139]
[ENSMUST00000159280]
[ENSMUST00000162597]
|
| AlphaFold |
Q9DB40 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028139
AA Change: S234T
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000028139
Gene: ENSMUSG00000026799
AA Change: S234T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med27
|
228 |
310 |
7.2e-30 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123522
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147547
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159280
AA Change: S95T
PolyPhen 2
Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000125390
Gene: ENSMUSG00000026799
AA Change: S95T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med27
|
85 |
171 |
1.4e-29 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162597
AA Change: S95T
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.9%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
C |
6: 128,545,675 (GRCm39) |
F484C |
probably damaging |
Het |
| Aoc1l1 |
A |
C |
6: 48,953,535 (GRCm39) |
I487L |
probably benign |
Het |
| Cdsn |
A |
G |
17: 35,865,803 (GRCm39) |
S111G |
unknown |
Het |
| Ctnnal1 |
T |
C |
4: 56,812,349 (GRCm39) |
T726A |
probably benign |
Het |
| Cyp2j11 |
T |
A |
4: 96,236,853 (GRCm39) |
|
probably benign |
Het |
| Ddx60 |
T |
A |
8: 62,476,275 (GRCm39) |
M1541K |
probably null |
Het |
| Dnah14 |
C |
T |
1: 181,536,616 (GRCm39) |
P2420S |
probably damaging |
Het |
| Fhit |
T |
C |
14: 9,573,435 (GRCm38) |
E205G |
probably benign |
Het |
| Glipr1l1 |
C |
T |
10: 111,912,075 (GRCm39) |
T203M |
probably benign |
Het |
| Gm4353 |
T |
A |
7: 115,683,504 (GRCm39) |
D97V |
probably benign |
Het |
| Gprc6a |
A |
T |
10: 51,491,907 (GRCm39) |
I543K |
probably damaging |
Het |
| Ifi205 |
T |
C |
1: 173,854,830 (GRCm39) |
T110A |
possibly damaging |
Het |
| Mocs1 |
T |
C |
17: 49,757,341 (GRCm39) |
S308P |
probably damaging |
Het |
| Mrpl11 |
C |
T |
19: 5,013,397 (GRCm39) |
S88F |
possibly damaging |
Het |
| Nav3 |
A |
T |
10: 109,702,845 (GRCm39) |
Y229* |
probably null |
Het |
| Or2f1b |
A |
T |
6: 42,739,899 (GRCm39) |
L304F |
probably damaging |
Het |
| Or2n1e |
A |
G |
17: 38,585,772 (GRCm39) |
M37V |
probably benign |
Het |
| Or52n2c |
C |
T |
7: 104,574,599 (GRCm39) |
R124H |
probably benign |
Het |
| Or52r1 |
C |
A |
7: 102,537,158 (GRCm39) |
L67F |
probably benign |
Het |
| Or5g27 |
T |
A |
2: 85,409,886 (GRCm39) |
M101K |
possibly damaging |
Het |
| Pear1 |
A |
G |
3: 87,663,238 (GRCm39) |
I460T |
probably benign |
Het |
| Phc3 |
T |
A |
3: 30,968,678 (GRCm39) |
K816N |
probably damaging |
Het |
| Phf19 |
T |
A |
2: 34,787,129 (GRCm39) |
D445V |
probably damaging |
Het |
| Pkd2l2 |
T |
C |
18: 34,563,742 (GRCm39) |
F486L |
probably damaging |
Het |
| Plagl1 |
G |
T |
10: 13,003,639 (GRCm39) |
|
probably benign |
Het |
| Prkca |
A |
G |
11: 107,948,671 (GRCm39) |
I106T |
probably benign |
Het |
| Ptpn3 |
C |
T |
4: 57,248,681 (GRCm39) |
G218R |
probably damaging |
Het |
| Ptx3 |
A |
G |
3: 66,132,130 (GRCm39) |
D217G |
possibly damaging |
Het |
| Rab3d |
T |
C |
9: 21,821,815 (GRCm39) |
T209A |
probably benign |
Het |
| Rfx2 |
A |
G |
17: 57,084,473 (GRCm39) |
F642S |
possibly damaging |
Het |
| Rhpn2 |
T |
A |
7: 35,075,636 (GRCm39) |
M271K |
possibly damaging |
Het |
| Serpinb6b |
A |
G |
13: 33,161,977 (GRCm39) |
T259A |
probably damaging |
Het |
| Speer3 |
G |
A |
5: 13,844,705 (GRCm39) |
V123M |
possibly damaging |
Het |
| Svil |
T |
G |
18: 5,106,724 (GRCm39) |
V1855G |
probably damaging |
Het |
| Thbs4 |
A |
G |
13: 92,888,303 (GRCm39) |
F950L |
probably benign |
Het |
| Tiparp |
T |
C |
3: 65,460,664 (GRCm39) |
V551A |
probably damaging |
Het |
| Vmn2r71 |
T |
A |
7: 85,268,482 (GRCm39) |
D228E |
probably benign |
Het |
| Vmn2r85 |
T |
C |
10: 130,261,531 (GRCm39) |
I269V |
probably benign |
Het |
| Vps9d1 |
A |
T |
8: 123,972,410 (GRCm39) |
M497K |
probably damaging |
Het |
| Wnt5b |
A |
G |
6: 119,410,603 (GRCm39) |
V241A |
probably damaging |
Het |
| Xdh |
T |
C |
17: 74,228,342 (GRCm39) |
N353S |
probably damaging |
Het |
| Zfp526 |
C |
T |
7: 24,925,757 (GRCm39) |
T672M |
probably damaging |
Het |
|
| Other mutations in Med27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01886:Med27
|
APN |
2 |
29,303,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTAGATGACCTCAGATCCCTTC -3'
(R):5'- TTCCCCATGTCATATAAATGCAGG -3'
Sequencing Primer
(F):5'- AGATGACCTCAGATCCCTTCATTCC -3'
(R):5'- CATATAAATGCAGGTCAGGTTGCCC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation