Incidental Mutation 'R4328:Med24'
| ID |
324485 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Med24
|
| Ensembl Gene |
ENSMUSG00000017210 |
| Gene Name |
mediator complex subunit 24 |
| Synonyms |
D11Ertd307e, 100kDa, Pparb2, DRIP100, R75526, Thrap4, Trap100, Gse2 |
| MMRRC Submission |
041098-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4328 (G1)
|
| Quality Score |
185 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
98595423-98620245 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 98597942 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098069
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017354]
[ENSMUST00000017354]
[ENSMUST00000038886]
[ENSMUST00000100500]
[ENSMUST00000100500]
[ENSMUST00000138750]
|
| AlphaFold |
Q99K74 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000017354
|
| SMART Domains |
Protein: ENSMUSP00000017354
Gene: ENSMUSG00000017210
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med24_N
|
1 |
985 |
N/A |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000017354
|
| SMART Domains |
Protein: ENSMUSP00000017354
Gene: ENSMUSG00000017210
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med24_N
|
1 |
985 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038886
|
| SMART Domains |
Protein: ENSMUSP00000037762
Gene: ENSMUSG00000038067
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
54 |
N/A |
INTRINSIC |
|
IL6
|
57 |
205 |
3.59e-48 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000100500
|
| SMART Domains |
Protein: ENSMUSP00000098069
Gene: ENSMUSG00000017210
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med24_N
|
1 |
1004 |
N/A |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000100500
|
| SMART Domains |
Protein: ENSMUSP00000098069
Gene: ENSMUSG00000017210
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med24_N
|
1 |
1004 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124371
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125064
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137328
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138750
|
| SMART Domains |
Protein: ENSMUSP00000120002
Gene: ENSMUSG00000017210
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med24_N
|
1 |
46 |
1.4e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157544
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144720
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156378
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139849
|
| Meta Mutation Damage Score |
0.9591 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (56/57) |
| MGI Phenotype |
FUNCTION: This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. The product of this gene may form a submodule of the mediator complex that magnifies the effects of activators on the general transcription machinery. Alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice die prior to birth exhibiting abnormal heart development, neural tube defects, and anemia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300009A05Rik |
T |
C |
9: 63,306,238 (GRCm39) |
K89R |
probably damaging |
Het |
| Aadacl4fm2 |
T |
A |
4: 144,282,164 (GRCm39) |
K209N |
possibly damaging |
Het |
| Alcam |
T |
C |
16: 52,073,579 (GRCm39) |
N549S |
possibly damaging |
Het |
| Arap2 |
A |
T |
5: 62,779,206 (GRCm39) |
H1461Q |
possibly damaging |
Het |
| Bin3 |
A |
G |
14: 70,356,054 (GRCm39) |
I4V |
probably benign |
Het |
| Brd10 |
G |
T |
19: 29,720,961 (GRCm39) |
T688K |
probably benign |
Het |
| C9orf72 |
T |
A |
4: 35,225,985 (GRCm39) |
|
probably benign |
Het |
| Cd55 |
C |
T |
1: 130,375,104 (GRCm39) |
|
probably benign |
Het |
| Cd55 |
A |
T |
1: 130,380,220 (GRCm39) |
C253S |
probably damaging |
Het |
| Col12a1 |
T |
A |
9: 79,607,671 (GRCm39) |
T386S |
possibly damaging |
Het |
| Col13a1 |
T |
C |
10: 61,699,758 (GRCm39) |
T476A |
unknown |
Het |
| Crym |
C |
T |
7: 119,794,562 (GRCm39) |
G219E |
probably damaging |
Het |
| Cwf19l2 |
A |
T |
9: 3,458,878 (GRCm39) |
I776F |
probably damaging |
Het |
| Eif1ad16 |
T |
A |
12: 87,985,285 (GRCm39) |
D86V |
possibly damaging |
Het |
| Erlec1 |
C |
T |
11: 30,899,972 (GRCm39) |
E166K |
probably benign |
Het |
| Gm3336 |
C |
T |
8: 71,173,234 (GRCm39) |
T82I |
probably benign |
Het |
| Gm3604 |
A |
T |
13: 62,517,079 (GRCm39) |
S425R |
possibly damaging |
Het |
| Gpn2 |
T |
C |
4: 133,315,919 (GRCm39) |
V203A |
probably benign |
Het |
| Gskip |
T |
C |
12: 105,666,960 (GRCm39) |
Y113H |
probably damaging |
Het |
| Hcn2 |
T |
C |
10: 79,560,445 (GRCm39) |
Y259H |
probably damaging |
Het |
| Hira |
C |
A |
16: 18,715,362 (GRCm39) |
Q87K |
probably benign |
Het |
| Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
| Kirrel1 |
T |
C |
3: 86,992,081 (GRCm39) |
|
probably benign |
Het |
| Klhl40 |
A |
G |
9: 121,607,956 (GRCm39) |
D372G |
probably benign |
Het |
| Lingo2 |
T |
A |
4: 35,708,462 (GRCm39) |
D506V |
probably damaging |
Het |
| Ly6e |
C |
A |
15: 74,830,370 (GRCm39) |
N73K |
probably damaging |
Het |
| Med12l |
T |
C |
3: 59,172,688 (GRCm39) |
S1813P |
probably benign |
Het |
| Niban1 |
T |
C |
1: 151,512,169 (GRCm39) |
S24P |
possibly damaging |
Het |
| Nup210l |
C |
A |
3: 90,083,142 (GRCm39) |
|
probably null |
Het |
| Or2t1 |
T |
A |
14: 14,328,193 (GRCm38) |
F27L |
probably damaging |
Het |
| Or5w12 |
C |
A |
2: 87,502,008 (GRCm39) |
R234S |
possibly damaging |
Het |
| Or7g34 |
T |
A |
9: 19,478,318 (GRCm39) |
M121L |
possibly damaging |
Het |
| Or8d1 |
T |
C |
9: 38,767,132 (GRCm39) |
M258T |
possibly damaging |
Het |
| Pafah1b1 |
T |
C |
11: 74,573,066 (GRCm39) |
T333A |
probably benign |
Het |
| Pak3 |
T |
C |
X: 142,516,205 (GRCm39) |
|
probably null |
Het |
| Palm |
G |
A |
10: 79,643,520 (GRCm39) |
G83S |
probably benign |
Het |
| Pax8 |
A |
G |
2: 24,331,663 (GRCm39) |
F140S |
possibly damaging |
Het |
| Ppargc1b |
A |
T |
18: 61,515,540 (GRCm39) |
C34* |
probably null |
Het |
| Ppp3cb |
A |
T |
14: 20,581,016 (GRCm39) |
I136K |
probably damaging |
Het |
| Prep |
T |
C |
10: 44,996,745 (GRCm39) |
V341A |
probably benign |
Het |
| Prickle4 |
C |
A |
17: 47,999,543 (GRCm39) |
G337C |
probably damaging |
Het |
| Rabgap1 |
T |
A |
2: 37,422,627 (GRCm39) |
Y627N |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,782,484 (GRCm39) |
Y1953C |
probably damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,064,137 (GRCm39) |
V708D |
probably damaging |
Het |
| Tent5b |
C |
T |
4: 133,213,914 (GRCm39) |
Q262* |
probably null |
Het |
| Tmem107 |
G |
T |
11: 68,962,301 (GRCm39) |
|
probably null |
Het |
| Tmem62 |
T |
A |
2: 120,810,991 (GRCm39) |
N156K |
probably damaging |
Het |
| Ttyh1 |
A |
T |
7: 4,133,580 (GRCm39) |
D295V |
probably damaging |
Het |
| Twsg1 |
T |
C |
17: 66,255,733 (GRCm39) |
T14A |
probably benign |
Het |
| Zfp184 |
T |
C |
13: 22,144,072 (GRCm39) |
Y593H |
probably damaging |
Het |
| Zfp239 |
T |
C |
6: 117,848,745 (GRCm39) |
L161P |
probably damaging |
Het |
| Zpbp2 |
A |
G |
11: 98,448,432 (GRCm39) |
T199A |
probably benign |
Het |
|
| Other mutations in Med24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01942:Med24
|
APN |
11 |
98,600,508 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01960:Med24
|
APN |
11 |
98,598,368 (GRCm39) |
missense |
probably benign |
|
|
IGL02119:Med24
|
APN |
11 |
98,619,661 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02681:Med24
|
APN |
11 |
98,600,565 (GRCm39) |
nonsense |
probably null |
|
|
IGL03038:Med24
|
APN |
11 |
98,607,010 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03377:Med24
|
APN |
11 |
98,595,962 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1186:Med24
|
UTSW |
11 |
98,608,583 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1887:Med24
|
UTSW |
11 |
98,609,642 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R1888:Med24
|
UTSW |
11 |
98,598,108 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1936:Med24
|
UTSW |
11 |
98,609,642 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2063:Med24
|
UTSW |
11 |
98,606,472 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3895:Med24
|
UTSW |
11 |
98,597,214 (GRCm39) |
missense |
probably benign |
|
|
R4751:Med24
|
UTSW |
11 |
98,597,258 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5195:Med24
|
UTSW |
11 |
98,601,107 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5237:Med24
|
UTSW |
11 |
98,601,609 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6047:Med24
|
UTSW |
11 |
98,598,591 (GRCm39) |
nonsense |
probably null |
|
|
R6834:Med24
|
UTSW |
11 |
98,595,850 (GRCm39) |
splice site |
probably null |
|
|
R6984:Med24
|
UTSW |
11 |
98,609,368 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7015:Med24
|
UTSW |
11 |
98,609,678 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7244:Med24
|
UTSW |
11 |
98,605,223 (GRCm39) |
splice site |
probably null |
|
|
R7479:Med24
|
UTSW |
11 |
98,595,787 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7536:Med24
|
UTSW |
11 |
98,603,447 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7594:Med24
|
UTSW |
11 |
98,605,923 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7667:Med24
|
UTSW |
11 |
98,603,990 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7745:Med24
|
UTSW |
11 |
98,595,793 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8023:Med24
|
UTSW |
11 |
98,609,321 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8146:Med24
|
UTSW |
11 |
98,608,940 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8382:Med24
|
UTSW |
11 |
98,608,537 (GRCm39) |
missense |
unknown |
|
|
R8442:Med24
|
UTSW |
11 |
98,598,383 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8806:Med24
|
UTSW |
11 |
98,595,970 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9388:Med24
|
UTSW |
11 |
98,600,893 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGTTAAGCTGGGCCCAGAAG -3'
(R):5'- AAAGCACCTTTGGCTGGAGG -3'
Sequencing Primer
(F):5'- GCTCCACGCTCATGGTGAAG -3'
(R):5'- TCTCAGGAGCTGCTGAAGG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation