Incidental Mutation 'IGL03303:Med1'
| ID |
416298 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Med1
|
| Ensembl Gene |
ENSMUSG00000018160 |
| Gene Name |
mediator complex subunit 1 |
| Synonyms |
DRIP205, TRAP220, PBP, Pparbp, CRSP210, l11Jus15, TRAP 220 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03303
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
98042980-98084119 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 98049178 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 539
(N539K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103169
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018304]
[ENSMUST00000092735]
[ENSMUST00000107545]
|
| AlphaFold |
Q925J9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018304
AA Change: N524K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000018304
Gene: ENSMUSG00000018160
AA Change: N524K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med1
|
18 |
414 |
3.7e-112 |
PFAM |
|
low complexity region
|
536 |
559 |
N/A |
INTRINSIC |
|
low complexity region
|
595 |
619 |
N/A |
INTRINSIC |
|
low complexity region
|
667 |
678 |
N/A |
INTRINSIC |
|
low complexity region
|
960 |
981 |
N/A |
INTRINSIC |
|
low complexity region
|
989 |
999 |
N/A |
INTRINSIC |
|
low complexity region
|
1015 |
1036 |
N/A |
INTRINSIC |
|
low complexity region
|
1042 |
1054 |
N/A |
INTRINSIC |
|
low complexity region
|
1063 |
1138 |
N/A |
INTRINSIC |
|
low complexity region
|
1170 |
1183 |
N/A |
INTRINSIC |
|
low complexity region
|
1205 |
1243 |
N/A |
INTRINSIC |
|
low complexity region
|
1250 |
1281 |
N/A |
INTRINSIC |
|
low complexity region
|
1344 |
1364 |
N/A |
INTRINSIC |
|
low complexity region
|
1482 |
1503 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092735
AA Change: N539K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000090411
Gene: ENSMUSG00000018160
AA Change: N539K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med1
|
33 |
429 |
1.2e-113 |
PFAM |
|
transmembrane domain
|
585 |
607 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107545
AA Change: N539K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103169
Gene: ENSMUSG00000018160
AA Change: N539K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med1
|
59 |
426 |
2.9e-74 |
PFAM |
|
low complexity region
|
551 |
574 |
N/A |
INTRINSIC |
|
low complexity region
|
610 |
634 |
N/A |
INTRINSIC |
|
low complexity region
|
682 |
693 |
N/A |
INTRINSIC |
|
low complexity region
|
975 |
996 |
N/A |
INTRINSIC |
|
low complexity region
|
1004 |
1014 |
N/A |
INTRINSIC |
|
low complexity region
|
1030 |
1051 |
N/A |
INTRINSIC |
|
low complexity region
|
1057 |
1069 |
N/A |
INTRINSIC |
|
low complexity region
|
1078 |
1153 |
N/A |
INTRINSIC |
|
low complexity region
|
1185 |
1198 |
N/A |
INTRINSIC |
|
low complexity region
|
1220 |
1258 |
N/A |
INTRINSIC |
|
low complexity region
|
1265 |
1296 |
N/A |
INTRINSIC |
|
low complexity region
|
1359 |
1379 |
N/A |
INTRINSIC |
|
low complexity region
|
1497 |
1518 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126483
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147933
|
| Coding Region Coverage |
|
| 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. It also regulates p53-dependent apoptosis and it is essential for adipogenesis. This protein is known to have the ability to self-oligomerize. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations have defects of placental vasculature, heart, and lens, arrested erythrocytic differentiation, impaired neuronal development, and die by embryonic day 11.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
A |
6: 121,644,122 (GRCm39) |
V940E |
probably damaging |
Het |
| Agap1 |
T |
A |
1: 89,592,874 (GRCm39) |
V307D |
probably damaging |
Het |
| Amd1 |
A |
G |
10: 40,166,121 (GRCm39) |
V286A |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 36,924,226 (GRCm39) |
E17G |
possibly damaging |
Het |
| Chrne |
T |
C |
11: 70,505,926 (GRCm39) |
K453R |
possibly damaging |
Het |
| Ckm |
T |
A |
7: 19,148,263 (GRCm39) |
|
probably benign |
Het |
| Ckmt1 |
A |
G |
2: 121,190,486 (GRCm39) |
T138A |
probably benign |
Het |
| Cldn4 |
A |
G |
5: 134,975,103 (GRCm39) |
V166A |
possibly damaging |
Het |
| Dclre1a |
T |
C |
19: 56,535,198 (GRCm39) |
T129A |
possibly damaging |
Het |
| Dlgap2 |
T |
A |
8: 14,777,812 (GRCm39) |
D352E |
probably damaging |
Het |
| Dnmt1 |
A |
G |
9: 20,838,006 (GRCm39) |
I236T |
probably benign |
Het |
| Enam |
G |
T |
5: 88,652,450 (GRCm39) |
V1320L |
probably benign |
Het |
| Ezh1 |
A |
C |
11: 101,086,497 (GRCm39) |
|
probably null |
Het |
| F13b |
A |
T |
1: 139,440,774 (GRCm39) |
D410V |
possibly damaging |
Het |
| Fcrl6 |
A |
T |
1: 172,425,255 (GRCm39) |
Y259N |
probably damaging |
Het |
| Fpr-rs7 |
A |
T |
17: 20,334,001 (GRCm39) |
F163Y |
possibly damaging |
Het |
| Gpihbp1 |
C |
T |
15: 75,469,827 (GRCm39) |
Q181* |
probably null |
Het |
| Htr2b |
T |
C |
1: 86,027,061 (GRCm39) |
|
probably benign |
Het |
| Igkv1-35 |
A |
G |
6: 69,988,635 (GRCm39) |
I8T |
probably benign |
Het |
| Kcnq2 |
T |
C |
2: 180,724,182 (GRCm39) |
T584A |
probably benign |
Het |
| Khdrbs3 |
A |
G |
15: 68,896,672 (GRCm39) |
T111A |
probably benign |
Het |
| Krtap29-1 |
A |
T |
11: 99,869,669 (GRCm39) |
C71S |
probably benign |
Het |
| Lrrc4c |
A |
T |
2: 97,459,937 (GRCm39) |
I188F |
probably damaging |
Het |
| Mga |
T |
A |
2: 119,733,933 (GRCm39) |
D260E |
probably damaging |
Het |
| Mnd1 |
A |
G |
3: 84,012,244 (GRCm39) |
I155T |
probably benign |
Het |
| Msrb3 |
T |
C |
10: 120,620,046 (GRCm39) |
D91G |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,485,194 (GRCm39) |
D1102E |
probably damaging |
Het |
| Nfx1 |
T |
A |
4: 41,004,323 (GRCm39) |
|
probably benign |
Het |
| Nrsn2 |
T |
C |
2: 152,216,131 (GRCm39) |
D24G |
possibly damaging |
Het |
| Or4c127 |
A |
T |
2: 89,832,810 (GRCm39) |
K20I |
possibly damaging |
Het |
| Osmr |
T |
A |
15: 6,872,289 (GRCm39) |
R268S |
probably benign |
Het |
| Pelo |
C |
A |
13: 115,225,197 (GRCm39) |
V343L |
probably damaging |
Het |
| Rp1 |
T |
A |
1: 4,415,040 (GRCm39) |
N2024I |
probably damaging |
Het |
| Rps6ka2 |
C |
T |
17: 7,495,411 (GRCm39) |
Q33* |
probably null |
Het |
| Slfn2 |
G |
A |
11: 82,960,293 (GRCm39) |
V91I |
possibly damaging |
Het |
| Socs6 |
G |
T |
18: 88,887,868 (GRCm39) |
A349E |
probably damaging |
Het |
| Syt2 |
A |
G |
1: 134,669,649 (GRCm39) |
N97D |
probably benign |
Het |
| Tas2r123 |
T |
A |
6: 132,824,401 (GRCm39) |
H99Q |
probably damaging |
Het |
| Tmc3 |
A |
G |
7: 83,239,933 (GRCm39) |
|
probably benign |
Het |
| Ube2s |
A |
T |
7: 4,813,476 (GRCm39) |
V35D |
probably damaging |
Het |
| Usp32 |
A |
T |
11: 84,913,658 (GRCm39) |
V891D |
probably damaging |
Het |
| Vmn1r169 |
A |
T |
7: 23,277,434 (GRCm39) |
E275D |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,841,786 (GRCm39) |
H1936R |
probably benign |
Het |
| Wrap73 |
C |
A |
4: 154,231,000 (GRCm39) |
A92E |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,468,410 (GRCm39) |
T2856M |
probably damaging |
Het |
| Zmym1 |
A |
T |
4: 126,942,927 (GRCm39) |
I487N |
probably damaging |
Het |
|
| Other mutations in Med1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00556:Med1
|
APN |
11 |
98,046,510 (GRCm39) |
intron |
probably benign |
|
|
IGL00690:Med1
|
APN |
11 |
98,060,226 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01087:Med1
|
APN |
11 |
98,071,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01133:Med1
|
APN |
11 |
98,048,812 (GRCm39) |
nonsense |
probably null |
|
|
IGL02223:Med1
|
APN |
11 |
98,048,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02257:Med1
|
APN |
11 |
98,071,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02699:Med1
|
APN |
11 |
98,070,851 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02706:Med1
|
APN |
11 |
98,047,533 (GRCm39) |
intron |
probably benign |
|
|
IGL02902:Med1
|
APN |
11 |
98,047,335 (GRCm39) |
intron |
probably benign |
|
|
IGL02986:Med1
|
APN |
11 |
98,047,086 (GRCm39) |
intron |
probably benign |
|
|
IGL03011:Med1
|
APN |
11 |
98,051,859 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03282:Med1
|
APN |
11 |
98,047,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03342:Med1
|
APN |
11 |
98,080,006 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03410:Med1
|
APN |
11 |
98,080,009 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
PIT4453001:Med1
|
UTSW |
11 |
98,049,243 (GRCm39) |
missense |
probably benign |
0.40 |
|
R0040:Med1
|
UTSW |
11 |
98,057,081 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0206:Med1
|
UTSW |
11 |
98,046,515 (GRCm39) |
intron |
probably benign |
|
|
R0206:Med1
|
UTSW |
11 |
98,046,515 (GRCm39) |
intron |
probably benign |
|
|
R0208:Med1
|
UTSW |
11 |
98,046,515 (GRCm39) |
intron |
probably benign |
|
|
R0310:Med1
|
UTSW |
11 |
98,058,400 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0505:Med1
|
UTSW |
11 |
98,047,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0597:Med1
|
UTSW |
11 |
98,060,264 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0680:Med1
|
UTSW |
11 |
98,070,992 (GRCm39) |
splice site |
probably null |
|
|
R0686:Med1
|
UTSW |
11 |
98,049,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0698:Med1
|
UTSW |
11 |
98,046,515 (GRCm39) |
intron |
probably benign |
|
|
R1293:Med1
|
UTSW |
11 |
98,047,862 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1302:Med1
|
UTSW |
11 |
98,048,275 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1365:Med1
|
UTSW |
11 |
98,046,821 (GRCm39) |
intron |
probably benign |
|
|
R1537:Med1
|
UTSW |
11 |
98,051,772 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1609:Med1
|
UTSW |
11 |
98,051,996 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1631:Med1
|
UTSW |
11 |
98,046,452 (GRCm39) |
intron |
probably benign |
|
|
R1792:Med1
|
UTSW |
11 |
98,048,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1831:Med1
|
UTSW |
11 |
98,047,437 (GRCm39) |
intron |
probably benign |
|
|
R1837:Med1
|
UTSW |
11 |
98,060,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2366:Med1
|
UTSW |
11 |
98,052,008 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3754:Med1
|
UTSW |
11 |
98,057,548 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R3762:Med1
|
UTSW |
11 |
98,046,341 (GRCm39) |
intron |
probably benign |
|
|
R4012:Med1
|
UTSW |
11 |
98,062,532 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4112:Med1
|
UTSW |
11 |
98,070,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4384:Med1
|
UTSW |
11 |
98,043,688 (GRCm39) |
unclassified |
probably benign |
|
|
R4579:Med1
|
UTSW |
11 |
98,049,248 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4740:Med1
|
UTSW |
11 |
98,071,090 (GRCm39) |
nonsense |
probably null |
|
|
R4819:Med1
|
UTSW |
11 |
98,046,258 (GRCm39) |
intron |
probably benign |
|
|
R4879:Med1
|
UTSW |
11 |
98,046,186 (GRCm39) |
unclassified |
probably benign |
|
|
R4993:Med1
|
UTSW |
11 |
98,054,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5040:Med1
|
UTSW |
11 |
98,046,230 (GRCm39) |
intron |
probably benign |
|
|
R5249:Med1
|
UTSW |
11 |
98,048,066 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5373:Med1
|
UTSW |
11 |
98,054,789 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5374:Med1
|
UTSW |
11 |
98,054,789 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5552:Med1
|
UTSW |
11 |
98,057,157 (GRCm39) |
nonsense |
probably null |
|
|
R5692:Med1
|
UTSW |
11 |
98,047,206 (GRCm39) |
intron |
probably benign |
|
|
R6010:Med1
|
UTSW |
11 |
98,049,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6149:Med1
|
UTSW |
11 |
98,074,679 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6417:Med1
|
UTSW |
11 |
98,048,054 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7301:Med1
|
UTSW |
11 |
98,043,634 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7507:Med1
|
UTSW |
11 |
98,048,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7529:Med1
|
UTSW |
11 |
98,046,791 (GRCm39) |
missense |
unknown |
|
|
R7588:Med1
|
UTSW |
11 |
98,046,398 (GRCm39) |
missense |
unknown |
|
|
R7654:Med1
|
UTSW |
11 |
98,060,189 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7662:Med1
|
UTSW |
11 |
98,046,218 (GRCm39) |
missense |
unknown |
|
|
R7679:Med1
|
UTSW |
11 |
98,046,887 (GRCm39) |
missense |
unknown |
|
|
R7862:Med1
|
UTSW |
11 |
98,052,036 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8447:Med1
|
UTSW |
11 |
98,060,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8693:Med1
|
UTSW |
11 |
98,046,599 (GRCm39) |
missense |
unknown |
|
|
R8843:Med1
|
UTSW |
11 |
98,080,102 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9072:Med1
|
UTSW |
11 |
98,080,009 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9284:Med1
|
UTSW |
11 |
98,046,366 (GRCm39) |
missense |
unknown |
|
|
R9428:Med1
|
UTSW |
11 |
98,080,049 (GRCm39) |
nonsense |
probably null |
|
|
R9465:Med1
|
UTSW |
11 |
98,049,144 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9531:Med1
|
UTSW |
11 |
98,048,321 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9537:Med1
|
UTSW |
11 |
98,062,586 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9548:Med1
|
UTSW |
11 |
98,070,884 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9680:Med1
|
UTSW |
11 |
98,071,114 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9696:Med1
|
UTSW |
11 |
98,061,772 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1176:Med1
|
UTSW |
11 |
98,052,009 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Posted On |
2016-08-02 |
Incidental Mutation