Incidental Mutation 'R7015:Med24'
| ID |
545266 |
| 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 |
045116-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7015 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
98595423-98620245 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98609678 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 73
(V73A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118820
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017354]
[ENSMUST00000100500]
[ENSMUST00000126565]
[ENSMUST00000138750]
|
| AlphaFold |
Q99K74 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000017354
AA Change: V73A
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000017354
Gene: ENSMUSG00000017210
AA Change: V73A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med24_N
|
1 |
985 |
N/A |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100500
AA Change: V73A
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000098069
Gene: ENSMUSG00000017210
AA Change: V73A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med24_N
|
1 |
1004 |
N/A |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000126565
AA Change: V73A
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000118820
Gene: ENSMUSG00000017210
AA Change: V73A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med24_N
|
1 |
90 |
5.6e-57 |
PFAM |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
93% (55/59) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930523C07Rik |
A |
G |
1: 159,902,738 (GRCm39) |
R3G |
possibly damaging |
Het |
| Abcc2 |
A |
G |
19: 43,786,617 (GRCm39) |
I150V |
probably benign |
Het |
| Adgrb1 |
T |
C |
15: 74,445,959 (GRCm39) |
L1085P |
probably damaging |
Het |
| Agbl4 |
A |
G |
4: 110,335,697 (GRCm39) |
N24D |
probably damaging |
Het |
| Aox1 |
A |
G |
1: 58,321,917 (GRCm39) |
T70A |
probably benign |
Het |
| Aplf |
G |
A |
6: 87,618,884 (GRCm39) |
A399V |
probably damaging |
Het |
| Asxl3 |
A |
G |
18: 22,656,978 (GRCm39) |
S1663G |
probably benign |
Het |
| Bcat1 |
G |
C |
6: 144,985,309 (GRCm39) |
P43R |
probably damaging |
Het |
| Camk1 |
T |
C |
6: 113,318,887 (GRCm39) |
R9G |
probably benign |
Het |
| Casp8ap2 |
T |
C |
4: 32,644,278 (GRCm39) |
V1117A |
probably damaging |
Het |
| Cd300ld4 |
A |
T |
11: 114,913,533 (GRCm39) |
V174E |
probably benign |
Het |
| Cep85l |
T |
C |
10: 53,225,151 (GRCm39) |
D146G |
possibly damaging |
Het |
| Clip1 |
T |
C |
5: 123,751,675 (GRCm39) |
|
probably benign |
Het |
| Cog3 |
C |
T |
14: 75,950,716 (GRCm39) |
V719I |
possibly damaging |
Het |
| Col4a4 |
G |
A |
1: 82,484,671 (GRCm39) |
P532L |
unknown |
Het |
| Col6a4 |
C |
T |
9: 105,910,954 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
C |
T |
12: 110,632,521 (GRCm39) |
Q4547* |
probably null |
Het |
| Ergic1 |
G |
A |
17: 26,873,853 (GRCm39) |
|
probably benign |
Het |
| Foxn4 |
G |
A |
5: 114,394,916 (GRCm39) |
T337M |
possibly damaging |
Het |
| Gemin5 |
A |
T |
11: 58,047,566 (GRCm39) |
I336N |
probably damaging |
Het |
| Gm21905 |
A |
T |
5: 68,103,705 (GRCm39) |
|
probably null |
Het |
| Grik2 |
C |
A |
10: 49,411,532 (GRCm39) |
R202L |
probably damaging |
Het |
| Iglon5 |
T |
C |
7: 43,126,351 (GRCm39) |
D184G |
probably benign |
Het |
| Il11ra1 |
A |
T |
4: 41,765,421 (GRCm39) |
Q172L |
probably benign |
Het |
| Me2 |
G |
T |
18: 73,914,218 (GRCm39) |
|
probably null |
Het |
| Mmp24 |
A |
G |
2: 155,634,544 (GRCm39) |
Q88R |
probably damaging |
Het |
| Mroh3 |
A |
T |
1: 136,111,069 (GRCm39) |
V819E |
probably damaging |
Het |
| Mrps9 |
A |
G |
1: 42,937,706 (GRCm39) |
K247R |
probably benign |
Het |
| Myo15b |
G |
A |
11: 115,762,670 (GRCm39) |
R1254H |
|
Het |
| Ncoa5 |
A |
G |
2: 164,844,001 (GRCm39) |
L134P |
probably benign |
Het |
| Or4d5 |
A |
T |
9: 40,012,751 (GRCm39) |
F12I |
probably benign |
Het |
| Or51e2 |
C |
A |
7: 102,391,651 (GRCm39) |
L186F |
probably damaging |
Het |
| Or52a24 |
T |
C |
7: 103,382,024 (GRCm39) |
V297A |
probably null |
Het |
| Pdcd11 |
A |
G |
19: 47,086,665 (GRCm39) |
I224V |
probably benign |
Het |
| Ptprh |
C |
A |
7: 4,555,626 (GRCm39) |
|
probably null |
Het |
| Rab34 |
G |
T |
11: 78,080,978 (GRCm39) |
V63F |
probably damaging |
Het |
| Rack1 |
T |
C |
11: 48,692,592 (GRCm39) |
I71T |
probably benign |
Het |
| Rai14 |
G |
A |
15: 10,589,401 (GRCm39) |
R266* |
probably null |
Het |
| Rsph9 |
A |
G |
17: 46,440,382 (GRCm39) |
V238A |
probably benign |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Sel1l3 |
A |
T |
5: 53,329,916 (GRCm39) |
C480S |
probably benign |
Het |
| Sh3pxd2a |
C |
T |
19: 47,256,562 (GRCm39) |
A747T |
probably benign |
Het |
| Slc1a3 |
T |
C |
15: 8,679,052 (GRCm39) |
N181S |
probably damaging |
Het |
| Slit1 |
T |
A |
19: 41,618,325 (GRCm39) |
K784* |
probably null |
Het |
| Sos2 |
T |
A |
12: 69,632,009 (GRCm39) |
Q1297L |
probably benign |
Het |
| Srd5a2 |
T |
A |
17: 74,334,114 (GRCm39) |
T102S |
probably benign |
Het |
| Ss18l2 |
A |
T |
9: 121,541,674 (GRCm39) |
I64F |
probably damaging |
Het |
| Tas2r120 |
T |
C |
6: 132,634,128 (GRCm39) |
F70S |
possibly damaging |
Het |
| Tjap1 |
G |
A |
17: 46,574,700 (GRCm39) |
A5V |
possibly damaging |
Het |
| Tln2 |
A |
T |
9: 67,269,929 (GRCm39) |
M488K |
possibly damaging |
Het |
| Tnks |
T |
G |
8: 35,305,701 (GRCm39) |
I42L |
probably benign |
Het |
| Togaram2 |
A |
T |
17: 72,016,563 (GRCm39) |
Q640L |
possibly damaging |
Het |
| Triobp |
C |
A |
15: 78,878,260 (GRCm39) |
Q1682K |
probably damaging |
Het |
| Trip11 |
C |
T |
12: 101,859,942 (GRCm39) |
E311K |
probably damaging |
Het |
| Ugt2b5 |
A |
G |
5: 87,287,655 (GRCm39) |
Y171H |
probably damaging |
Het |
| Vmn2r66 |
T |
C |
7: 84,644,766 (GRCm39) |
D548G |
possibly damaging |
Het |
| Zfp990 |
G |
T |
4: 145,263,205 (GRCm39) |
D68Y |
probably damaging |
Het |
| Zranb2 |
A |
T |
3: 157,242,370 (GRCm39) |
|
probably null |
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 |
|
|
R4328:Med24
|
UTSW |
11 |
98,597,942 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
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'- TGTGTTCCTAATTTCCAGGACC -3'
(R):5'- TCGAAACCCTCTCATTCGGC -3'
Sequencing Primer
(F):5'- AGGACCTCCTTCCTGGGC -3'
(R):5'- CACTTGCACTGAGTCTGATGGAAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation