Incidental Mutation 'IGL00556:Med4'
| ID |
4157 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Med4
|
| Ensembl Gene |
ENSMUSG00000022109 |
| Gene Name |
mediator complex subunit 4 |
| Synonyms |
p36 TRAP/SMCC/PC2 subunit, DRIP36, 2410046H15Rik, Vdrip, TRAP36, HSPC126, MED4 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
IGL00556
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
73510025-73518849 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 73517267 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 190
(M190T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022705
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022705]
[ENSMUST00000043813]
|
| AlphaFold |
Q9CQA5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022705
AA Change: M190T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022705
Gene: ENSMUSG00000022109
AA Change: M190T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med4
|
63 |
206 |
7.8e-34 |
PFAM |
|
low complexity region
|
259 |
270 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043813
|
| SMART Domains |
Protein: ENSMUSP00000039537
Gene: ENSMUSG00000033405
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NUDIX
|
11 |
142 |
1.5e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226903
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228141
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the Mediator complex. The Mediator complex interacts with DNA-binding gene-specific transcription factors to modulate transcription by RNA polymerase II. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402H24Rik |
T |
C |
2: 130,784,457 (GRCm38) |
D225G |
probably benign |
Het |
| Abca12 |
T |
C |
1: 71,353,757 (GRCm38) |
I108V |
probably benign |
Het |
| Atad2 |
A |
G |
15: 58,100,080 (GRCm38) |
I723T |
probably damaging |
Het |
| Cct4 |
T |
A |
11: 22,997,656 (GRCm38) |
V233E |
possibly damaging |
Het |
| Ces1a |
A |
G |
8: 93,045,059 (GRCm38) |
Y37H |
probably benign |
Het |
| Cgnl1 |
C |
T |
9: 71,656,056 (GRCm38) |
R863Q |
probably benign |
Het |
| Fam13b |
T |
C |
18: 34,497,435 (GRCm38) |
D90G |
probably damaging |
Het |
| Fhdc1 |
A |
T |
3: 84,457,242 (GRCm38) |
D232E |
possibly damaging |
Het |
| Gm6370 |
A |
G |
5: 146,493,913 (GRCm38) |
T303A |
probably benign |
Het |
| Gsdmc2 |
A |
G |
15: 63,828,271 (GRCm38) |
|
probably benign |
Het |
| Kif13b |
T |
A |
14: 64,744,888 (GRCm38) |
N516K |
probably damaging |
Het |
| Med1 |
A |
G |
11: 98,155,684 (GRCm38) |
|
probably benign |
Het |
| Myo15b |
T |
C |
11: 115,891,916 (GRCm38) |
V1534A |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,191,949 (GRCm38) |
R1722G |
probably benign |
Het |
| Obp2b |
A |
T |
2: 25,738,581 (GRCm38) |
I116F |
probably damaging |
Het |
| Rims2 |
A |
G |
15: 39,456,674 (GRCm38) |
|
probably null |
Het |
| Siglecg |
A |
T |
7: 43,411,795 (GRCm38) |
I431F |
probably benign |
Het |
| Thap12 |
T |
A |
7: 98,716,137 (GRCm38) |
V504D |
possibly damaging |
Het |
| Tlr7 |
A |
C |
X: 167,308,475 (GRCm38) |
M5R |
possibly damaging |
Het |
| Tubgcp6 |
A |
G |
15: 89,100,962 (GRCm38) |
V1641A |
probably damaging |
Het |
| Ugt2b1 |
T |
A |
5: 86,926,196 (GRCm38) |
L101F |
probably benign |
Het |
| Xdh |
A |
T |
17: 73,884,435 (GRCm38) |
*1336R |
probably null |
Het |
|
| Other mutations in Med4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02728:Med4
|
APN |
14 |
73,517,975 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
IGL02964:Med4
|
APN |
14 |
73,517,921 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0718:Med4
|
UTSW |
14 |
73,516,657 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2131:Med4
|
UTSW |
14 |
73,517,996 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R2156:Med4
|
UTSW |
14 |
73,518,032 (GRCm38) |
unclassified |
probably benign |
|
|
R2320:Med4
|
UTSW |
14 |
73,517,933 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R4454:Med4
|
UTSW |
14 |
73,518,062 (GRCm38) |
unclassified |
probably benign |
|
|
R5361:Med4
|
UTSW |
14 |
73,510,113 (GRCm38) |
nonsense |
probably null |
|
|
R6419:Med4
|
UTSW |
14 |
73,513,923 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8461:Med4
|
UTSW |
14 |
73,518,028 (GRCm38) |
missense |
unknown |
|
|
R8724:Med4
|
UTSW |
14 |
73,513,809 (GRCm38) |
nonsense |
probably null |
|
|
R9172:Med4
|
UTSW |
14 |
73,513,925 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9322:Med4
|
UTSW |
14 |
73,510,161 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation