Incidental Mutation 'PIT4362001:Med23'
| ID |
554633 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Med23
|
| Ensembl Gene |
ENSMUSG00000019984 |
| Gene Name |
mediator complex subunit 23 |
| Synonyms |
ESTM7, 3000002A17Rik, X83317, Sur2, Crsp3, sno |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
PIT4362001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
24745889-24789358 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24750469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 99
(M99V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090316
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020159]
[ENSMUST00000092646]
[ENSMUST00000176313]
[ENSMUST00000176502]
[ENSMUST00000177232]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020159
AA Change: M99V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000020159
Gene: ENSMUSG00000019984
AA Change: M99V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
3 |
1310 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092646
AA Change: M99V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000090316
Gene: ENSMUSG00000019984
AA Change: M99V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
4 |
1316 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176313
AA Change: M72V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000135751
Gene: ENSMUSG00000019984
AA Change: M72V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
1 |
197 |
1.7e-75 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176502
|
| SMART Domains |
Protein: ENSMUSP00000134836
Gene: ENSMUSG00000019984
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
1 |
95 |
8.7e-36 |
PFAM |
|
Pfam:Med23
|
92 |
234 |
3.8e-63 |
PFAM |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 93.4%
- 3x: 91.2%
- 10x: 87.0%
- 20x: 78.3%
|
| 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. 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
T |
C |
17: 31,283,398 (GRCm39) |
S28P |
possibly damaging |
Het |
| Akr1c14 |
T |
C |
13: 4,129,100 (GRCm39) |
V165A |
probably damaging |
Het |
| Aox1 |
A |
T |
1: 58,321,839 (GRCm39) |
T44S |
probably damaging |
Het |
| Arhgap29 |
T |
A |
3: 121,796,861 (GRCm39) |
N482K |
probably benign |
Het |
| Arhgef38 |
T |
A |
3: 132,866,591 (GRCm39) |
D182V |
|
Het |
| Atad5 |
C |
T |
11: 80,002,393 (GRCm39) |
H1062Y |
probably benign |
Het |
| Atp6v0b |
A |
G |
4: 117,742,453 (GRCm39) |
S147P |
possibly damaging |
Het |
| Cblb |
T |
A |
16: 51,959,905 (GRCm39) |
Y299* |
probably null |
Het |
| Ccdc28b |
T |
C |
4: 129,514,818 (GRCm39) |
N97S |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,301,237 (GRCm39) |
V479A |
probably benign |
Het |
| Chuk |
A |
G |
19: 44,087,022 (GRCm39) |
|
probably null |
Het |
| Cmtr2 |
G |
A |
8: 110,948,968 (GRCm39) |
G426D |
probably damaging |
Het |
| Cog4 |
G |
A |
8: 111,593,304 (GRCm39) |
D472N |
probably damaging |
Het |
| Creb3 |
T |
A |
4: 43,565,472 (GRCm39) |
L193* |
probably null |
Het |
| Cxcr6 |
A |
T |
9: 123,639,526 (GRCm39) |
I183F |
probably benign |
Het |
| Dbf4 |
A |
G |
5: 8,453,664 (GRCm39) |
F253L |
probably benign |
Het |
| Dcaf8 |
T |
C |
1: 172,000,364 (GRCm39) |
V174A |
probably damaging |
Het |
| Ddhd2 |
T |
C |
8: 26,225,779 (GRCm39) |
Y526C |
probably damaging |
Het |
| Dnal4 |
A |
G |
15: 79,647,766 (GRCm39) |
V33A |
probably benign |
Het |
| Egfl7 |
C |
T |
2: 26,481,052 (GRCm39) |
P188L |
probably benign |
Het |
| Ephb3 |
A |
G |
16: 21,039,607 (GRCm39) |
E707G |
probably damaging |
Het |
| Epn3 |
C |
T |
11: 94,387,349 (GRCm39) |
R7H |
probably damaging |
Het |
| Fbp1 |
T |
A |
13: 63,015,194 (GRCm39) |
I262F |
probably damaging |
Het |
| Fgfbp3 |
G |
A |
19: 36,896,088 (GRCm39) |
R177* |
probably null |
Het |
| Gask1b |
C |
A |
3: 79,794,246 (GRCm39) |
S238Y |
possibly damaging |
Het |
| Gbp5 |
T |
C |
3: 142,206,471 (GRCm39) |
S52P |
probably damaging |
Het |
| Glb1l2 |
A |
T |
9: 26,685,277 (GRCm39) |
S282T |
probably benign |
Het |
| Glg1 |
A |
T |
8: 111,985,431 (GRCm39) |
V133E |
possibly damaging |
Het |
| Gm4787 |
T |
G |
12: 81,423,949 (GRCm39) |
L736F |
probably benign |
Het |
| Gm5565 |
A |
T |
5: 146,095,109 (GRCm39) |
S212R |
probably benign |
Het |
| Grin2c |
T |
C |
11: 115,140,459 (GRCm39) |
T1220A |
probably benign |
Het |
| Grp |
T |
G |
18: 66,019,297 (GRCm39) |
S133A |
probably benign |
Het |
| Gstp2 |
C |
A |
19: 4,090,713 (GRCm39) |
D147Y |
possibly damaging |
Het |
| Igkv14-130 |
T |
C |
6: 67,768,392 (GRCm39) |
F84L |
probably damaging |
Het |
| Inppl1 |
T |
C |
7: 101,475,220 (GRCm39) |
R944G |
probably benign |
Het |
| Lama2 |
A |
T |
10: 27,245,132 (GRCm39) |
N216K |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,367,882 (GRCm39) |
D210V |
probably damaging |
Het |
| Lrrc2 |
A |
T |
9: 110,791,608 (GRCm39) |
Q120L |
possibly damaging |
Het |
| Lrriq1 |
A |
G |
10: 102,907,055 (GRCm39) |
I1555T |
probably benign |
Het |
| Map2 |
G |
A |
1: 66,451,677 (GRCm39) |
G189D |
probably benign |
Het |
| Mdc1 |
A |
G |
17: 36,155,361 (GRCm39) |
E12G |
possibly damaging |
Het |
| Mdga2 |
T |
C |
12: 66,844,542 (GRCm39) |
D152G |
possibly damaging |
Het |
| Mutyh |
G |
A |
4: 116,674,267 (GRCm39) |
V273M |
probably damaging |
Het |
| Neurod2 |
T |
A |
11: 98,218,708 (GRCm39) |
Y152F |
probably damaging |
Het |
| Or5d3 |
C |
T |
2: 88,174,357 (GRCm39) |
A247T |
probably benign |
Het |
| Or5g25 |
A |
C |
2: 85,478,068 (GRCm39) |
L199R |
probably damaging |
Het |
| Or8c20 |
G |
T |
9: 38,260,494 (GRCm39) |
L32F |
probably benign |
Het |
| Pcdh20 |
G |
C |
14: 88,704,462 (GRCm39) |
P946R |
probably damaging |
Het |
| Pde6b |
T |
C |
5: 108,571,451 (GRCm39) |
|
probably null |
Het |
| Pdzrn4 |
A |
T |
15: 92,667,762 (GRCm39) |
D638V |
possibly damaging |
Het |
| Polr1b |
A |
G |
2: 128,951,212 (GRCm39) |
D275G |
possibly damaging |
Het |
| Rnf157 |
T |
A |
11: 116,251,143 (GRCm39) |
D127V |
probably damaging |
Het |
| Rspo4 |
T |
A |
2: 151,709,803 (GRCm39) |
C69* |
probably null |
Het |
| Scara3 |
T |
C |
14: 66,173,851 (GRCm39) |
T63A |
probably benign |
Het |
| Scn2a |
G |
A |
2: 65,514,182 (GRCm39) |
E289K |
probably benign |
Het |
| Sh3gl2 |
A |
G |
4: 85,295,786 (GRCm39) |
T163A |
probably benign |
Het |
| Slc2a10 |
T |
A |
2: 165,358,213 (GRCm39) |
F446Y |
probably damaging |
Het |
| Snapc1 |
C |
T |
12: 74,029,269 (GRCm39) |
R351C |
probably damaging |
Het |
| Snx6 |
A |
G |
12: 54,814,815 (GRCm39) |
Y169H |
possibly damaging |
Het |
| Stab2 |
A |
T |
10: 86,697,299 (GRCm39) |
C1996* |
probably null |
Het |
| Steap4 |
A |
G |
5: 8,030,337 (GRCm39) |
T398A |
probably benign |
Het |
| Tep1 |
A |
T |
14: 51,103,510 (GRCm39) |
L260Q |
probably benign |
Het |
| Tspan12 |
A |
T |
6: 21,835,463 (GRCm39) |
V70D |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,569,362 (GRCm39) |
A27177V |
probably damaging |
Het |
| Ube3a |
T |
C |
7: 58,925,870 (GRCm39) |
V237A |
possibly damaging |
Het |
| Vil1 |
G |
A |
1: 74,460,542 (GRCm39) |
R233H |
probably damaging |
Het |
| Xrcc5 |
A |
G |
1: 72,433,088 (GRCm39) |
T716A |
probably benign |
Het |
| Zbp1 |
A |
G |
2: 173,058,783 (GRCm39) |
I18T |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,807,524 (GRCm39) |
V1845A |
probably benign |
Het |
| Zfp407 |
A |
T |
18: 84,579,393 (GRCm39) |
N573K |
possibly damaging |
Het |
| Zfp64 |
T |
C |
2: 168,767,735 (GRCm39) |
T626A |
probably benign |
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 |
|
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 |
|
R5896:Med23
|
UTSW |
10 |
24,778,043 (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'- TACCAACAGCTTATGAGAGTGC -3'
(R):5'- CTCTGCTTTCTTTCTGTGAAGTAAG -3'
Sequencing Primer
(F):5'- CATGTTTGGCATGGCACT -3'
(R):5'- CTCCTCCAATGATTTTCCGA -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation