Incidental Mutation 'R4335:Med8'
| ID |
323729 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Med8
|
| Ensembl Gene |
ENSMUSG00000006392 |
| Gene Name |
mediator complex subunit 8 |
| Synonyms |
ARC32, 2210021A15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
R4335 (G1)
|
| Quality Score |
160 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
118266534-118272979 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 118266567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074862
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019229]
[ENSMUST00000073881]
[ENSMUST00000075406]
[ENSMUST00000084319]
[ENSMUST00000106384]
[ENSMUST00000126089]
[ENSMUST00000144577]
|
| AlphaFold |
Q9D7W5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019229
|
| SMART Domains |
Protein: ENSMUSP00000019229
Gene: ENSMUSG00000006392
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med8
|
1 |
265 |
1.2e-91 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073881
|
| SMART Domains |
Protein: ENSMUSP00000073544
Gene: ENSMUSG00000006392
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med8
|
2 |
129 |
1.4e-39 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000075406
|
| SMART Domains |
Protein: ENSMUSP00000074862
Gene: ENSMUSG00000033253
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
64 |
N/A |
INTRINSIC |
|
Blast:VWA
|
93 |
343 |
1e-109 |
BLAST |
|
low complexity region
|
704 |
728 |
N/A |
INTRINSIC |
|
low complexity region
|
762 |
775 |
N/A |
INTRINSIC |
|
low complexity region
|
779 |
793 |
N/A |
INTRINSIC |
|
low complexity region
|
875 |
887 |
N/A |
INTRINSIC |
|
low complexity region
|
994 |
1011 |
N/A |
INTRINSIC |
|
low complexity region
|
1351 |
1370 |
N/A |
INTRINSIC |
|
low complexity region
|
1619 |
1630 |
N/A |
INTRINSIC |
|
low complexity region
|
1662 |
1678 |
N/A |
INTRINSIC |
|
low complexity region
|
1832 |
1854 |
N/A |
INTRINSIC |
|
low complexity region
|
1862 |
1881 |
N/A |
INTRINSIC |
|
low complexity region
|
1895 |
1914 |
N/A |
INTRINSIC |
|
low complexity region
|
2176 |
2184 |
N/A |
INTRINSIC |
|
low complexity region
|
2284 |
2292 |
N/A |
INTRINSIC |
|
low complexity region
|
2309 |
2323 |
N/A |
INTRINSIC |
|
low complexity region
|
2373 |
2384 |
N/A |
INTRINSIC |
|
low complexity region
|
2500 |
2508 |
N/A |
INTRINSIC |
|
low complexity region
|
2669 |
2680 |
N/A |
INTRINSIC |
|
low complexity region
|
2739 |
2758 |
N/A |
INTRINSIC |
|
low complexity region
|
3239 |
3252 |
N/A |
INTRINSIC |
|
low complexity region
|
3257 |
3268 |
N/A |
INTRINSIC |
|
low complexity region
|
3283 |
3309 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084319
|
| SMART Domains |
Protein: ENSMUSP00000081346
Gene: ENSMUSG00000006392
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med8
|
2 |
179 |
1.1e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106384
|
| SMART Domains |
Protein: ENSMUSP00000101992
Gene: ENSMUSG00000006392
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med8
|
1 |
234 |
3.3e-70 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125235
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126089
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135201
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152633
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130421
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144577
|
| SMART Domains |
Protein: ENSMUSP00000120158
Gene: ENSMUSG00000006392
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med8
|
2 |
75 |
3.7e-23 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein component of the mediator complex, which aids in transcriptional activation through interaction with RNA polymerase II and gene-specific transcription factors. The encoded protein may also function in ubiquitin ligation and protein degradation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
G |
A |
11: 110,042,843 (GRCm39) |
T402M |
probably damaging |
Het |
| Apbb1ip |
G |
A |
2: 22,761,574 (GRCm39) |
|
probably null |
Het |
| Armh1 |
A |
T |
4: 117,071,660 (GRCm39) |
I308N |
probably damaging |
Het |
| Ceacam5 |
G |
A |
7: 17,486,054 (GRCm39) |
R517Q |
probably benign |
Het |
| Clic4 |
C |
T |
4: 134,945,916 (GRCm39) |
S167N |
probably benign |
Het |
| Ehbp1l1 |
A |
T |
19: 5,758,797 (GRCm39) |
L1644Q |
probably damaging |
Het |
| Erh |
A |
G |
12: 80,689,615 (GRCm39) |
L3P |
probably benign |
Het |
| Fbxw7 |
T |
C |
3: 84,879,802 (GRCm39) |
C375R |
probably damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Fsd2 |
A |
T |
7: 81,191,813 (GRCm39) |
S521R |
probably damaging |
Het |
| Garin2 |
T |
C |
12: 78,759,006 (GRCm39) |
S109P |
possibly damaging |
Het |
| Hace1 |
A |
G |
10: 45,586,057 (GRCm39) |
Y865C |
probably damaging |
Het |
| Iqca1l |
A |
G |
5: 24,749,368 (GRCm39) |
L710P |
probably damaging |
Het |
| Iqcf1 |
G |
A |
9: 106,379,072 (GRCm39) |
R62H |
possibly damaging |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Leng8 |
T |
C |
7: 4,150,037 (GRCm39) |
Y781H |
probably damaging |
Het |
| Myo19 |
G |
A |
11: 84,799,114 (GRCm39) |
A816T |
probably benign |
Het |
| Nat8f2 |
A |
G |
6: 85,845,233 (GRCm39) |
L43P |
probably damaging |
Het |
| Omd |
A |
C |
13: 49,743,712 (GRCm39) |
D254A |
probably benign |
Het |
| Psd2 |
G |
T |
18: 36,140,583 (GRCm39) |
A622S |
probably damaging |
Het |
| Rnf207 |
G |
A |
4: 152,400,062 (GRCm39) |
|
probably benign |
Het |
| Rsbn1l |
T |
C |
5: 21,113,191 (GRCm39) |
I444V |
probably null |
Het |
| Rxfp1 |
A |
G |
3: 79,594,105 (GRCm39) |
|
probably null |
Het |
| Selenot |
C |
A |
3: 58,492,722 (GRCm39) |
R70S |
possibly damaging |
Het |
| Sox6 |
A |
G |
7: 115,111,959 (GRCm39) |
S557P |
probably benign |
Het |
| Sp9 |
G |
A |
2: 73,104,633 (GRCm39) |
V396M |
probably damaging |
Het |
| Ston1 |
T |
C |
17: 88,943,125 (GRCm39) |
F177S |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,074,866 (GRCm39) |
E4602G |
probably damaging |
Het |
| Tbc1d19 |
A |
G |
5: 54,029,619 (GRCm39) |
T327A |
possibly damaging |
Het |
| Tsga13 |
T |
C |
6: 30,876,980 (GRCm39) |
D179G |
probably damaging |
Het |
| Wdr27 |
T |
A |
17: 15,141,018 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Med8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1700:Med8
|
UTSW |
4 |
118,269,931 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R2960:Med8
|
UTSW |
4 |
118,271,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4651:Med8
|
UTSW |
4 |
118,268,089 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4652:Med8
|
UTSW |
4 |
118,268,089 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4723:Med8
|
UTSW |
4 |
118,268,998 (GRCm39) |
start codon destroyed |
probably null |
0.97 |
|
R7483:Med8
|
UTSW |
4 |
118,268,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7665:Med8
|
UTSW |
4 |
118,268,853 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
|
| Posted On |
2015-06-24 |
Incidental Mutation