Incidental Mutation 'R9194:Med27'
| ID |
697845 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Med27
|
| Ensembl Gene |
ENSMUSG00000026799 |
| Gene Name |
mediator complex subunit 27 |
| Synonyms |
Crsp8, 1500015J03Rik, 2310042P07Rik, D2Ertd434e |
| MMRRC Submission |
068953-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.951)
|
| Stock # |
R9194 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
29236831-29414805 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 29361312 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 163
(D163N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028139
(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: D163N
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000028139
Gene: ENSMUSG00000026799
AA Change: D163N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med27
|
228 |
310 |
7.2e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113830
AA Change: D163N
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159034
AA Change: D24N
PolyPhen 2
Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159280
AA Change: D24N
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125390
Gene: ENSMUSG00000026799
AA Change: D24N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med27
|
85 |
171 |
1.4e-29 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162597
AA Change: D24N
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162623
AA Change: D24N
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
94% (44/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
T |
9: 57,166,371 (GRCm39) |
M1K |
probably null |
Het |
| Adra1b |
A |
T |
11: 43,726,263 (GRCm39) |
V218D |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,606,255 (GRCm39) |
S1216G |
possibly damaging |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Cfap44 |
G |
T |
16: 44,288,824 (GRCm39) |
D1525Y |
probably damaging |
Het |
| Chd8 |
A |
T |
14: 52,439,650 (GRCm39) |
M2341K |
probably benign |
Het |
| Chst11 |
A |
G |
10: 83,027,319 (GRCm39) |
T249A |
probably damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,434,850 (GRCm39) |
V336A |
probably benign |
Het |
| Dennd3 |
T |
C |
15: 73,419,153 (GRCm39) |
L648P |
probably benign |
Het |
| Dhx16 |
T |
C |
17: 36,200,173 (GRCm39) |
V864A |
probably benign |
Het |
| Enpp3 |
G |
A |
10: 24,675,092 (GRCm39) |
H362Y |
possibly damaging |
Het |
| Ess2 |
A |
T |
16: 17,728,028 (GRCm39) |
D79E |
probably damaging |
Het |
| Fam83c |
T |
A |
2: 155,671,299 (GRCm39) |
Y712F |
probably damaging |
Het |
| Helz |
C |
T |
11: 107,561,113 (GRCm39) |
Q1392* |
probably null |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Iqch |
T |
C |
9: 63,479,961 (GRCm39) |
H143R |
probably benign |
Het |
| Itgb5 |
A |
G |
16: 33,720,881 (GRCm39) |
D315G |
probably damaging |
Het |
| Kcnmb2 |
A |
G |
3: 32,236,174 (GRCm39) |
K141R |
probably benign |
Het |
| Lrrc37a |
G |
A |
11: 103,391,676 (GRCm39) |
P1250S |
probably benign |
Het |
| Mcm5 |
T |
G |
8: 75,836,962 (GRCm39) |
V110G |
probably damaging |
Het |
| Mms22l |
C |
A |
4: 24,600,185 (GRCm39) |
Y1129* |
probably null |
Het |
| Mov10l1 |
G |
A |
15: 88,931,023 (GRCm39) |
R1081H |
probably damaging |
Het |
| Mtpap |
C |
T |
18: 4,380,834 (GRCm39) |
Q171* |
probably null |
Het |
| Mtpap |
C |
G |
18: 4,380,833 (GRCm39) |
N170K |
probably benign |
Het |
| Myo6 |
T |
A |
9: 80,153,836 (GRCm39) |
F271I |
unknown |
Het |
| Ndst4 |
C |
T |
3: 125,518,385 (GRCm39) |
S354L |
probably benign |
Het |
| Nfatc1 |
C |
T |
18: 80,751,258 (GRCm39) |
A26T |
probably benign |
Het |
| Or7d11 |
C |
A |
9: 19,966,543 (GRCm39) |
C72F |
probably damaging |
Het |
| Piezo2 |
G |
C |
18: 63,250,815 (GRCm39) |
T428S |
probably benign |
Het |
| Prkch |
A |
G |
12: 73,768,616 (GRCm39) |
E462G |
probably damaging |
Het |
| Rbm20 |
A |
G |
19: 53,823,131 (GRCm39) |
Y576C |
probably damaging |
Het |
| Riok3 |
TTTCATT |
TTT |
18: 12,282,642 (GRCm39) |
|
probably null |
Het |
| Rpp40 |
C |
T |
13: 36,080,898 (GRCm39) |
D302N |
probably benign |
Het |
| Sash1 |
A |
G |
10: 8,615,969 (GRCm39) |
V631A |
probably damaging |
Het |
| Sstr2 |
A |
G |
11: 113,515,203 (GRCm39) |
T41A |
probably benign |
Het |
| Thsd7b |
T |
A |
1: 129,843,371 (GRCm39) |
V861E |
possibly damaging |
Het |
| Tomm70a |
A |
G |
16: 56,973,070 (GRCm39) |
K603E |
possibly damaging |
Het |
| Tpd52l2 |
T |
A |
2: 181,141,683 (GRCm39) |
M22K |
possibly damaging |
Het |
| Tpst1 |
T |
A |
5: 130,130,860 (GRCm39) |
L110Q |
possibly damaging |
Het |
| Tram1l1 |
A |
G |
3: 124,115,137 (GRCm39) |
Y99C |
possibly damaging |
Het |
| Ttc39b |
A |
G |
4: 83,181,977 (GRCm39) |
F81L |
possibly damaging |
Het |
| Ubr1 |
A |
G |
2: 120,778,325 (GRCm39) |
Y238H |
probably damaging |
Het |
| Vmn1r202 |
G |
T |
13: 22,686,316 (GRCm39) |
H34N |
possibly damaging |
Het |
| Vmn1r36 |
G |
A |
6: 66,693,036 (GRCm39) |
Q280* |
probably null |
Het |
| Xpnpep1 |
A |
T |
19: 53,000,289 (GRCm39) |
V187E |
possibly damaging |
Het |
| Zfp592 |
A |
G |
7: 80,674,349 (GRCm39) |
I438V |
probably benign |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGCAAAGGGTCATGGGAG -3'
(R):5'- TCCTATGTAGGGAGCAGAGC -3'
Sequencing Primer
(F):5'- CATGGGAGGAAAAAGGAGATGTTTTC -3'
(R):5'- CATGAGCCTAGGGATTCAACCTG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation