Incidental Mutation 'R5896:Med23'
ID |
457528 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Med23
|
Ensembl Gene |
ENSMUSG00000019984 |
Gene Name |
mediator complex subunit 23 |
Synonyms |
ESTM7, 3000002A17Rik, X83317, Sur2, Crsp3, sno |
MMRRC Submission |
044095-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5896 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
24745889-24789358 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24778043 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 797
(L797P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000090316
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020159]
[ENSMUST00000092646]
[ENSMUST00000176285]
[ENSMUST00000177232]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020159
AA Change: L791P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000020159 Gene: ENSMUSG00000019984 AA Change: L791P
Domain | Start | End | E-Value | Type |
Pfam:Med23
|
3 |
1310 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000092646
AA Change: L797P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000090316 Gene: ENSMUSG00000019984 AA Change: L797P
Domain | Start | End | E-Value | Type |
Pfam:Med23
|
4 |
1316 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000176285
AA Change: L431P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000135232 Gene: ENSMUSG00000019984 AA Change: L431P
Domain | Start | End | E-Value | Type |
Pfam:Med23
|
1 |
51 |
4.4e-14 |
PFAM |
Pfam:Med23
|
48 |
950 |
N/A |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176827
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177232
|
SMART Domains |
Protein: ENSMUSP00000134866 Gene: ENSMUSG00000019984
Domain | Start | End | E-Value | Type |
Pfam:Med23
|
3 |
58 |
1.2e-10 |
PFAM |
|
Meta Mutation Damage Score |
0.9012 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.3%
- 20x: 91.5%
|
Validation Efficiency |
99% (86/87) |
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. This protein also acts as a metastasis suppressor. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2012] PHENOTYPE: Homozygous null mice display embryonic lethality during organogenesis with disorganization of the vasculature and peripheral nervous system. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310061N02Rik |
A |
T |
16: 88,504,321 (GRCm39) |
S159T |
probably damaging |
Het |
2610028H24Rik |
T |
A |
10: 76,288,664 (GRCm39) |
M53K |
probably benign |
Het |
3425401B19Rik |
G |
A |
14: 32,383,632 (GRCm39) |
Q778* |
probably null |
Het |
Abhd16a |
T |
A |
17: 35,310,701 (GRCm39) |
|
probably benign |
Het |
Acp6 |
A |
G |
3: 97,075,810 (GRCm39) |
K226R |
probably benign |
Het |
Ankfy1 |
A |
G |
11: 72,650,811 (GRCm39) |
D998G |
probably damaging |
Het |
Apbb1 |
G |
T |
7: 105,223,432 (GRCm39) |
P60T |
probably damaging |
Het |
Apol9a |
T |
A |
15: 77,288,705 (GRCm39) |
I221F |
probably benign |
Het |
Arhgap29 |
A |
G |
3: 121,805,736 (GRCm39) |
E947G |
possibly damaging |
Het |
B430218F22Rik |
A |
T |
13: 118,523,934 (GRCm39) |
|
probably benign |
Het |
Carmil3 |
ACCCCC |
ACCCCCCC |
14: 55,741,456 (GRCm39) |
|
probably null |
Het |
Ccdc69 |
C |
T |
11: 54,943,716 (GRCm39) |
|
probably null |
Het |
Ccdc93 |
G |
T |
1: 121,390,849 (GRCm39) |
V274L |
possibly damaging |
Het |
Cdc25a |
A |
G |
9: 109,713,433 (GRCm39) |
D191G |
probably benign |
Het |
Cimip2a |
A |
T |
2: 25,110,578 (GRCm39) |
M129L |
probably benign |
Het |
Cmya5 |
A |
G |
13: 93,182,373 (GRCm39) |
|
probably null |
Het |
Crebzf |
TGGAGGAGGAGGAGGAGGA |
TGGAGGAGGAGGAGGA |
7: 90,092,479 (GRCm39) |
|
probably benign |
Het |
Csde1 |
T |
C |
3: 102,947,859 (GRCm39) |
|
probably benign |
Het |
Ctdp1 |
A |
G |
18: 80,502,003 (GRCm39) |
L177P |
probably damaging |
Het |
Dnah5 |
T |
A |
15: 28,272,206 (GRCm39) |
H1003Q |
probably benign |
Het |
Epb41l2 |
T |
A |
10: 25,369,494 (GRCm39) |
N604K |
probably damaging |
Het |
Fig4 |
T |
A |
10: 41,130,881 (GRCm39) |
N465Y |
possibly damaging |
Het |
Gemin7 |
G |
A |
7: 19,299,223 (GRCm39) |
S124F |
probably damaging |
Het |
Gli3 |
G |
A |
13: 15,900,765 (GRCm39) |
R1384K |
probably benign |
Het |
Gm12258 |
G |
A |
11: 58,750,457 (GRCm39) |
C544Y |
probably damaging |
Het |
Grm1 |
C |
T |
10: 10,956,294 (GRCm39) |
|
probably benign |
Het |
H2-T15 |
T |
A |
17: 36,367,236 (GRCm39) |
M329L |
probably benign |
Het |
Hps4 |
C |
T |
5: 112,517,351 (GRCm39) |
T246I |
probably benign |
Het |
Ifngr2 |
A |
T |
16: 91,358,653 (GRCm39) |
E284D |
possibly damaging |
Het |
Impdh2 |
A |
G |
9: 108,441,165 (GRCm39) |
T148A |
probably benign |
Het |
Irx3 |
T |
C |
8: 92,527,763 (GRCm39) |
S36G |
probably benign |
Het |
Itga5 |
T |
A |
15: 103,259,514 (GRCm39) |
K667N |
probably benign |
Het |
Itgad |
G |
A |
7: 127,773,188 (GRCm39) |
C15Y |
probably benign |
Het |
Ly75 |
T |
G |
2: 60,213,490 (GRCm39) |
E29A |
probably benign |
Het |
Magi1 |
T |
A |
6: 93,685,180 (GRCm39) |
S506C |
probably damaging |
Het |
Map4 |
G |
A |
9: 109,901,702 (GRCm39) |
V781M |
possibly damaging |
Het |
Naip1 |
C |
T |
13: 100,559,636 (GRCm39) |
G1123R |
probably benign |
Het |
Ncor1 |
G |
T |
11: 62,274,016 (GRCm39) |
P55Q |
probably damaging |
Het |
Odr4 |
A |
T |
1: 150,256,111 (GRCm39) |
N211K |
probably benign |
Het |
Ofcc1 |
T |
A |
13: 40,334,060 (GRCm39) |
I344F |
probably benign |
Het |
Or4a74 |
C |
A |
2: 89,439,667 (GRCm39) |
V260F |
probably damaging |
Het |
Or4d5 |
A |
T |
9: 40,012,189 (GRCm39) |
M199K |
probably damaging |
Het |
Or5d35 |
A |
G |
2: 87,855,465 (GRCm39) |
Y133C |
probably damaging |
Het |
Or5k1 |
G |
A |
16: 58,618,095 (GRCm39) |
T38I |
probably damaging |
Het |
Otub2 |
C |
T |
12: 103,369,687 (GRCm39) |
|
probably benign |
Het |
Parva |
A |
G |
7: 112,143,960 (GRCm39) |
M83V |
probably benign |
Het |
Pcdha8 |
T |
A |
18: 37,126,572 (GRCm39) |
N351K |
probably benign |
Het |
Pcdhb5 |
T |
A |
18: 37,455,732 (GRCm39) |
L704* |
probably null |
Het |
Pkd1l3 |
T |
A |
8: 110,353,468 (GRCm39) |
L683H |
probably damaging |
Het |
Plekhn1 |
C |
T |
4: 156,308,331 (GRCm39) |
R288H |
probably benign |
Het |
Polr2a |
A |
T |
11: 69,627,086 (GRCm39) |
N1457K |
probably damaging |
Het |
Ppp1r12b |
A |
G |
1: 134,693,719 (GRCm39) |
S981P |
probably damaging |
Het |
Ppp1r9a |
A |
G |
6: 5,159,648 (GRCm39) |
K1062E |
probably damaging |
Het |
Ptpre |
A |
T |
7: 135,276,007 (GRCm39) |
T498S |
probably benign |
Het |
Pus7l |
C |
T |
15: 94,427,332 (GRCm39) |
|
probably null |
Het |
Rptn |
C |
T |
3: 93,305,639 (GRCm39) |
Q991* |
probably null |
Het |
Rsu1 |
T |
G |
2: 13,229,170 (GRCm39) |
E76A |
probably damaging |
Het |
Septin11 |
T |
A |
5: 93,304,824 (GRCm39) |
F214I |
probably damaging |
Het |
Slc1a7 |
G |
T |
4: 107,869,587 (GRCm39) |
A551S |
probably benign |
Het |
Slc45a2 |
T |
A |
15: 11,000,941 (GRCm39) |
Y13* |
probably null |
Het |
Slc7a14 |
T |
G |
3: 31,311,719 (GRCm39) |
L100F |
probably damaging |
Het |
Slit3 |
A |
G |
11: 35,598,932 (GRCm39) |
E1512G |
probably damaging |
Het |
Stat5a |
A |
G |
11: 100,767,883 (GRCm39) |
Q458R |
possibly damaging |
Het |
Svep1 |
T |
C |
4: 58,084,906 (GRCm39) |
T1811A |
possibly damaging |
Het |
Tarbp1 |
A |
G |
8: 127,179,667 (GRCm39) |
F624L |
probably benign |
Het |
Tfeb |
T |
G |
17: 48,070,433 (GRCm39) |
|
probably null |
Het |
Tnxb |
G |
A |
17: 34,891,126 (GRCm39) |
G490R |
probably damaging |
Het |
Tra2b |
T |
C |
16: 22,077,953 (GRCm39) |
Y32C |
probably damaging |
Het |
Trpv4 |
C |
T |
5: 114,760,708 (GRCm39) |
|
probably benign |
Het |
Uvrag |
A |
T |
7: 98,637,414 (GRCm39) |
L138* |
probably null |
Het |
Vwf |
A |
T |
6: 125,655,725 (GRCm39) |
|
probably null |
Het |
Wdr47 |
G |
A |
3: 108,526,322 (GRCm39) |
D282N |
probably damaging |
Het |
Xirp2 |
A |
G |
2: 67,340,290 (GRCm39) |
N844D |
possibly damaging |
Het |
Xirp2 |
A |
G |
2: 67,339,042 (GRCm39) |
M428V |
probably benign |
Het |
Znfx1 |
G |
A |
2: 166,880,920 (GRCm39) |
T288I |
probably damaging |
Het |
|
Other mutations in Med23 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00670:Med23
|
APN |
10 |
24,764,482 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00792:Med23
|
APN |
10 |
24,752,902 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01289:Med23
|
APN |
10 |
24,778,019 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01469:Med23
|
APN |
10 |
24,758,495 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01598:Med23
|
APN |
10 |
24,779,696 (GRCm39) |
missense |
probably benign |
0.34 |
IGL02324:Med23
|
APN |
10 |
24,773,239 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02381:Med23
|
APN |
10 |
24,776,626 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02465:Med23
|
APN |
10 |
24,779,641 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02554:Med23
|
APN |
10 |
24,774,473 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02683:Med23
|
APN |
10 |
24,746,615 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4362001:Med23
|
UTSW |
10 |
24,750,469 (GRCm39) |
missense |
probably benign |
0.01 |
R0080:Med23
|
UTSW |
10 |
24,788,715 (GRCm39) |
missense |
probably benign |
0.33 |
R0125:Med23
|
UTSW |
10 |
24,776,686 (GRCm39) |
missense |
probably damaging |
1.00 |
R0311:Med23
|
UTSW |
10 |
24,773,256 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0765:Med23
|
UTSW |
10 |
24,776,608 (GRCm39) |
missense |
probably damaging |
1.00 |
R1302:Med23
|
UTSW |
10 |
24,764,320 (GRCm39) |
splice site |
probably null |
|
R1456:Med23
|
UTSW |
10 |
24,779,550 (GRCm39) |
splice site |
probably benign |
|
R1514:Med23
|
UTSW |
10 |
24,768,565 (GRCm39) |
splice site |
probably benign |
|
R1774:Med23
|
UTSW |
10 |
24,779,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R1851:Med23
|
UTSW |
10 |
24,786,768 (GRCm39) |
splice site |
probably null |
|
R1928:Med23
|
UTSW |
10 |
24,785,710 (GRCm39) |
missense |
probably benign |
|
R1975:Med23
|
UTSW |
10 |
24,786,664 (GRCm39) |
missense |
probably benign |
0.01 |
R2011:Med23
|
UTSW |
10 |
24,755,653 (GRCm39) |
missense |
possibly damaging |
0.63 |
R2266:Med23
|
UTSW |
10 |
24,750,499 (GRCm39) |
missense |
probably benign |
0.00 |
R2309:Med23
|
UTSW |
10 |
24,746,586 (GRCm39) |
missense |
probably damaging |
0.99 |
R2507:Med23
|
UTSW |
10 |
24,786,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R2566:Med23
|
UTSW |
10 |
24,764,473 (GRCm39) |
missense |
probably damaging |
1.00 |
R3720:Med23
|
UTSW |
10 |
24,767,018 (GRCm39) |
missense |
probably damaging |
1.00 |
R3771:Med23
|
UTSW |
10 |
24,778,099 (GRCm39) |
missense |
probably damaging |
1.00 |
R3811:Med23
|
UTSW |
10 |
24,768,491 (GRCm39) |
splice site |
probably null |
|
R3811:Med23
|
UTSW |
10 |
24,768,490 (GRCm39) |
nonsense |
probably null |
|
R4305:Med23
|
UTSW |
10 |
24,780,168 (GRCm39) |
nonsense |
probably null |
|
R4323:Med23
|
UTSW |
10 |
24,746,603 (GRCm39) |
missense |
probably benign |
0.02 |
R4701:Med23
|
UTSW |
10 |
24,769,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R4886:Med23
|
UTSW |
10 |
24,750,581 (GRCm39) |
critical splice donor site |
probably null |
|
R4925:Med23
|
UTSW |
10 |
24,786,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R4943:Med23
|
UTSW |
10 |
24,751,567 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5207:Med23
|
UTSW |
10 |
24,771,734 (GRCm39) |
nonsense |
probably null |
|
R5749:Med23
|
UTSW |
10 |
24,764,347 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5806:Med23
|
UTSW |
10 |
24,783,119 (GRCm39) |
missense |
probably damaging |
1.00 |
R5954:Med23
|
UTSW |
10 |
24,746,381 (GRCm39) |
splice site |
probably benign |
|
R6031:Med23
|
UTSW |
10 |
24,779,646 (GRCm39) |
nonsense |
probably null |
|
R6031:Med23
|
UTSW |
10 |
24,779,646 (GRCm39) |
nonsense |
probably null |
|
R6093:Med23
|
UTSW |
10 |
24,754,341 (GRCm39) |
missense |
probably benign |
0.16 |
R6107:Med23
|
UTSW |
10 |
24,781,932 (GRCm39) |
nonsense |
probably null |
|
R6356:Med23
|
UTSW |
10 |
24,764,311 (GRCm39) |
missense |
probably damaging |
0.98 |
R6393:Med23
|
UTSW |
10 |
24,749,374 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6533:Med23
|
UTSW |
10 |
24,769,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R6911:Med23
|
UTSW |
10 |
24,778,079 (GRCm39) |
missense |
probably damaging |
0.98 |
R6981:Med23
|
UTSW |
10 |
24,771,722 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7085:Med23
|
UTSW |
10 |
24,746,019 (GRCm39) |
missense |
probably damaging |
1.00 |
R7215:Med23
|
UTSW |
10 |
24,764,327 (GRCm39) |
missense |
probably benign |
|
R7229:Med23
|
UTSW |
10 |
24,777,902 (GRCm39) |
missense |
probably benign |
|
R7489:Med23
|
UTSW |
10 |
24,780,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R7530:Med23
|
UTSW |
10 |
24,781,851 (GRCm39) |
missense |
probably benign |
0.00 |
R7643:Med23
|
UTSW |
10 |
24,781,863 (GRCm39) |
missense |
probably benign |
0.01 |
R7653:Med23
|
UTSW |
10 |
24,780,282 (GRCm39) |
missense |
probably damaging |
1.00 |
R7764:Med23
|
UTSW |
10 |
24,785,818 (GRCm39) |
critical splice donor site |
probably null |
|
R7784:Med23
|
UTSW |
10 |
24,778,346 (GRCm39) |
missense |
probably damaging |
1.00 |
R8024:Med23
|
UTSW |
10 |
24,755,581 (GRCm39) |
missense |
possibly damaging |
0.74 |
R8182:Med23
|
UTSW |
10 |
24,788,705 (GRCm39) |
missense |
probably benign |
|
R8412:Med23
|
UTSW |
10 |
24,784,632 (GRCm39) |
missense |
probably benign |
0.01 |
R8874:Med23
|
UTSW |
10 |
24,771,617 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8975:Med23
|
UTSW |
10 |
24,780,334 (GRCm39) |
missense |
probably benign |
0.42 |
R9131:Med23
|
UTSW |
10 |
24,780,279 (GRCm39) |
missense |
|
|
R9202:Med23
|
UTSW |
10 |
24,780,202 (GRCm39) |
missense |
probably benign |
0.12 |
R9341:Med23
|
UTSW |
10 |
24,788,705 (GRCm39) |
missense |
probably benign |
|
R9342:Med23
|
UTSW |
10 |
24,750,469 (GRCm39) |
missense |
probably benign |
0.01 |
R9343:Med23
|
UTSW |
10 |
24,788,705 (GRCm39) |
missense |
probably benign |
|
R9412:Med23
|
UTSW |
10 |
24,778,019 (GRCm39) |
missense |
probably damaging |
1.00 |
RF003:Med23
|
UTSW |
10 |
24,779,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGTTCCTCGCCTCCGATTG -3'
(R):5'- AATGTTCTCACATGGGCCACC -3'
Sequencing Primer
(F):5'- TCTGTATCCAGTGACATGAACTTCG -3'
(R):5'- ACTGCCAAGCAGACTGAA -3'
|
Posted On |
2017-02-15 |