Incidental Mutation 'IGL02175:Med19'
| ID |
283087 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Med19
|
| Ensembl Gene |
ENSMUSG00000027080 |
| Gene Name |
mediator complex subunit 19 |
| Synonyms |
3110040A13Rik, 2410018M14Rik, LCMR1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02175
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
84508746-84518559 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 84509007 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099705
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053664]
[ENSMUST00000102645]
[ENSMUST00000111664]
[ENSMUST00000111665]
[ENSMUST00000152149]
[ENSMUST00000189772]
|
| AlphaFold |
Q8C1S0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053664
|
| SMART Domains |
Protein: ENSMUSP00000059582
Gene: ENSMUSG00000050043
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
39 |
N/A |
INTRINSIC |
|
transmembrane domain
|
103 |
125 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
137 |
243 |
3.6e-13 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000102645
|
| SMART Domains |
Protein: ENSMUSP00000099705
Gene: ENSMUSG00000027080
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
55 |
N/A |
INTRINSIC |
|
Pfam:Med19
|
63 |
234 |
4e-87 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111664
|
| SMART Domains |
Protein: ENSMUSP00000107293
Gene: ENSMUSG00000050043
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
38 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
99 |
205 |
1.6e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111665
|
| SMART Domains |
Protein: ENSMUSP00000107294
Gene: ENSMUSG00000050043
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
39 |
N/A |
INTRINSIC |
|
transmembrane domain
|
103 |
125 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
137 |
243 |
3.3e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123772
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138529
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152149
|
| SMART Domains |
Protein: ENSMUSP00000115745
Gene: ENSMUSG00000050043
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
39 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189772
|
| SMART Domains |
Protein: ENSMUSP00000141166
Gene: ENSMUSG00000101645
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
10 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
126 |
153 |
N/A |
INTRINSIC |
|
ARM
|
397 |
437 |
2.53e-6 |
SMART |
|
ARM
|
440 |
481 |
2.8e-8 |
SMART |
|
ARM
|
482 |
539 |
6.3e1 |
SMART |
|
ARM
|
541 |
588 |
3.74e0 |
SMART |
|
Blast:ARM
|
651 |
693 |
9e-20 |
BLAST |
|
ARM
|
699 |
739 |
1.23e-4 |
SMART |
|
ARM
|
789 |
831 |
4.41e1 |
SMART |
|
low complexity region
|
857 |
868 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of the Mediator complex, which binds to gene-specific regulatory factors and provides support for the basal RNA polymerase II transcription machinery. This gene has been implicated in the growth of several types of cancer, and inhibition of its expression inhibits the growth and spread of these cancers. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
A |
T |
8: 87,261,642 (GRCm39) |
|
probably null |
Het |
| Adgrf5 |
A |
G |
17: 43,761,901 (GRCm39) |
I1199V |
probably damaging |
Het |
| Atm |
T |
A |
9: 53,391,965 (GRCm39) |
H1808L |
probably damaging |
Het |
| Cadps |
C |
T |
14: 12,467,092 (GRCm38) |
V942M |
probably damaging |
Het |
| Capns1 |
T |
C |
7: 29,889,957 (GRCm39) |
D116G |
probably benign |
Het |
| Ccdc110 |
T |
G |
8: 46,393,660 (GRCm39) |
M124R |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,167,087 (GRCm39) |
N1855S |
possibly damaging |
Het |
| Dstyk |
T |
A |
1: 132,377,129 (GRCm39) |
L245* |
probably null |
Het |
| Dync2h1 |
A |
G |
9: 7,111,548 (GRCm39) |
Y289H |
possibly damaging |
Het |
| Efcab6 |
G |
A |
15: 83,780,301 (GRCm39) |
A1044V |
probably damaging |
Het |
| Egr1 |
T |
C |
18: 34,996,108 (GRCm39) |
S297P |
probably benign |
Het |
| Ercc6l2 |
T |
C |
13: 64,017,004 (GRCm39) |
|
probably benign |
Het |
| Frem2 |
C |
T |
3: 53,563,020 (GRCm39) |
A496T |
possibly damaging |
Het |
| Hook2 |
T |
A |
8: 85,718,031 (GRCm39) |
W53R |
probably damaging |
Het |
| Mgrn1 |
A |
G |
16: 4,738,232 (GRCm39) |
N262S |
probably benign |
Het |
| Nbas |
T |
G |
12: 13,616,260 (GRCm39) |
|
probably null |
Het |
| Ndc80 |
A |
C |
17: 71,818,414 (GRCm39) |
M314R |
probably benign |
Het |
| Nelfcd |
A |
T |
2: 174,262,175 (GRCm39) |
T89S |
probably benign |
Het |
| Nlrp4a |
A |
T |
7: 26,174,522 (GRCm39) |
E969D |
probably damaging |
Het |
| Ntrk3 |
A |
G |
7: 77,896,976 (GRCm39) |
V687A |
probably damaging |
Het |
| Oc90 |
A |
C |
15: 65,755,674 (GRCm39) |
S224R |
possibly damaging |
Het |
| Or4a69 |
T |
C |
2: 89,312,626 (GRCm39) |
I284M |
possibly damaging |
Het |
| Plxnb1 |
C |
T |
9: 108,929,914 (GRCm39) |
H257Y |
possibly damaging |
Het |
| Prpf3 |
A |
G |
3: 95,741,419 (GRCm39) |
V579A |
probably damaging |
Het |
| Rarres1 |
T |
C |
3: 67,403,089 (GRCm39) |
N104S |
probably benign |
Het |
| Serpina1d |
T |
C |
12: 103,731,955 (GRCm39) |
|
probably null |
Het |
| Sik2 |
G |
A |
9: 50,806,909 (GRCm39) |
Q834* |
probably null |
Het |
| Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
| Snx13 |
T |
A |
12: 35,182,061 (GRCm39) |
N703K |
possibly damaging |
Het |
| Spaca9 |
T |
C |
2: 28,585,936 (GRCm39) |
I43V |
probably benign |
Het |
| Tor1aip2 |
T |
C |
1: 155,940,752 (GRCm39) |
S353P |
probably damaging |
Het |
| Trmt1l |
T |
C |
1: 151,324,235 (GRCm39) |
S361P |
probably benign |
Het |
| Trpm2 |
T |
C |
10: 77,773,741 (GRCm39) |
H558R |
probably benign |
Het |
| Vmn1r75 |
T |
C |
7: 11,614,774 (GRCm39) |
C127R |
probably damaging |
Het |
| Zfp879 |
A |
T |
11: 50,728,743 (GRCm39) |
Y84N |
probably benign |
Het |
|
| Other mutations in Med19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02148:Med19
|
APN |
2 |
84,515,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02378:Med19
|
APN |
2 |
84,515,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0965:Med19
|
UTSW |
2 |
84,508,793 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1935:Med19
|
UTSW |
2 |
84,516,002 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2316:Med19
|
UTSW |
2 |
84,516,587 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7857:Med19
|
UTSW |
2 |
84,515,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9032:Med19
|
UTSW |
2 |
84,515,660 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9035:Med19
|
UTSW |
2 |
84,516,532 (GRCm39) |
splice site |
probably benign |
|
|
R9278:Med19
|
UTSW |
2 |
84,508,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation