Incidental Mutation 'R6663:Med6'
| ID |
526879 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Med6
|
| Ensembl Gene |
ENSMUSG00000002679 |
| Gene Name |
mediator complex subunit 6 |
| Synonyms |
1500012F11Rik |
| MMRRC Submission |
044783-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.946)
|
| Stock # |
R6663 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
81620331-81641782 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 81628649 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 80
(D80V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002756
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002756]
[ENSMUST00000161211]
[ENSMUST00000161598]
[ENSMUST00000161902]
|
| AlphaFold |
Q921D4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002756
AA Change: D80V
PolyPhen 2
Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000002756
Gene: ENSMUSG00000002679
AA Change: D80V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med6
|
1 |
90 |
9.6e-32 |
PFAM |
|
low complexity region
|
165 |
176 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159187
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161211
AA Change: D131V
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000125156
Gene: ENSMUSG00000002679
AA Change: D131V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med6
|
13 |
140 |
1.8e-46 |
PFAM |
|
low complexity region
|
216 |
227 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161598
AA Change: D131V
PolyPhen 2
Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000124361
Gene: ENSMUSG00000002679
AA Change: D131V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med6
|
13 |
141 |
1.3e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161902
AA Change: D80V
PolyPhen 2
Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000125103
Gene: ENSMUSG00000002679
AA Change: D80V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med6
|
1 |
90 |
3.4e-32 |
PFAM |
|
| Meta Mutation Damage Score |
0.1935 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 94.0%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd17 |
A |
G |
5: 90,411,923 (GRCm39) |
S1314P |
probably damaging |
Het |
| Btbd3 |
T |
A |
2: 138,121,003 (GRCm39) |
I59K |
probably benign |
Het |
| Clcn2 |
A |
G |
16: 20,521,995 (GRCm39) |
*865R |
probably null |
Het |
| Col22a1 |
T |
C |
15: 71,691,908 (GRCm39) |
Q749R |
unknown |
Het |
| Cpsf2 |
T |
C |
12: 101,965,852 (GRCm39) |
Y606H |
probably damaging |
Het |
| Csn1s1 |
T |
C |
5: 87,823,599 (GRCm39) |
V154A |
probably benign |
Het |
| Cux1 |
T |
A |
5: 136,514,701 (GRCm39) |
E23V |
probably damaging |
Het |
| Cyp2j9 |
C |
A |
4: 96,467,679 (GRCm39) |
W269L |
probably benign |
Het |
| Dbf4 |
T |
C |
5: 8,453,184 (GRCm39) |
M273V |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,334,899 (GRCm39) |
|
probably null |
Het |
| Fezf1 |
A |
G |
6: 23,247,527 (GRCm39) |
S183P |
probably damaging |
Het |
| Irx2 |
A |
G |
13: 72,777,248 (GRCm39) |
Y23C |
probably damaging |
Het |
| Itga1 |
A |
T |
13: 115,110,641 (GRCm39) |
N983K |
probably benign |
Het |
| Kifc1 |
A |
G |
17: 34,100,430 (GRCm39) |
|
probably benign |
Het |
| Lrrc14b |
T |
C |
13: 74,509,480 (GRCm39) |
N309S |
probably damaging |
Het |
| Lyst |
A |
T |
13: 13,838,701 (GRCm39) |
|
probably null |
Het |
| Map1b |
T |
C |
13: 99,566,530 (GRCm39) |
T2064A |
unknown |
Het |
| Mark3 |
T |
A |
12: 111,541,517 (GRCm39) |
N11K |
probably benign |
Het |
| Mfhas1 |
A |
G |
8: 36,056,272 (GRCm39) |
E249G |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,977,417 (GRCm39) |
I1256M |
probably benign |
Het |
| Nkx2-9 |
G |
T |
12: 56,658,723 (GRCm39) |
R164S |
probably benign |
Het |
| Or4p20 |
T |
A |
2: 88,253,694 (GRCm39) |
N225I |
probably benign |
Het |
| Phf10 |
T |
C |
17: 15,179,774 (GRCm39) |
D33G |
probably null |
Het |
| Plekha5 |
A |
G |
6: 140,523,016 (GRCm39) |
M719V |
probably damaging |
Het |
| Pln |
A |
G |
10: 53,219,792 (GRCm39) |
|
probably benign |
Het |
| Prg4 |
G |
A |
1: 150,330,852 (GRCm39) |
|
probably benign |
Het |
| Slc35b3 |
A |
G |
13: 39,138,112 (GRCm39) |
L99P |
probably damaging |
Het |
| Tbccd1 |
AT |
ATGT |
16: 22,652,778 (GRCm39) |
|
probably null |
Het |
| Ube2j1 |
C |
T |
4: 33,045,198 (GRCm39) |
S157L |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,008,933 (GRCm39) |
T300A |
possibly damaging |
Het |
| Zfp668 |
G |
A |
7: 127,466,941 (GRCm39) |
R212C |
probably damaging |
Het |
| Zup1 |
A |
G |
10: 33,825,431 (GRCm39) |
M17T |
possibly damaging |
Het |
|
| Other mutations in Med6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Med6
|
APN |
12 |
81,626,348 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0607:Med6
|
UTSW |
12 |
81,635,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2020:Med6
|
UTSW |
12 |
81,620,651 (GRCm39) |
missense |
probably benign |
|
|
R3946:Med6
|
UTSW |
12 |
81,628,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4763:Med6
|
UTSW |
12 |
81,629,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5640:Med6
|
UTSW |
12 |
81,628,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5772:Med6
|
UTSW |
12 |
81,626,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5786:Med6
|
UTSW |
12 |
81,620,733 (GRCm39) |
missense |
probably null |
0.00 |
|
R6049:Med6
|
UTSW |
12 |
81,638,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6886:Med6
|
UTSW |
12 |
81,638,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7127:Med6
|
UTSW |
12 |
81,635,774 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7919:Med6
|
UTSW |
12 |
81,620,621 (GRCm39) |
nonsense |
probably null |
|
|
R8158:Med6
|
UTSW |
12 |
81,620,677 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8506:Med6
|
UTSW |
12 |
81,641,734 (GRCm39) |
start codon destroyed |
probably null |
0.14 |
|
R8795:Med6
|
UTSW |
12 |
81,638,034 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGCAATGCCATCACCTTCTG -3'
(R):5'- TGAGTCTGCCTGAATAACTACAGTC -3'
Sequencing Primer
(F):5'- GCCATCACCTTCTGAAAAATTAAAAC -3'
(R):5'- ATCCCTTGCAGATACTGAAGG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation