Incidental Mutation 'R2895:Med16'
ID |
477131 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Med16
|
Ensembl Gene |
ENSMUSG00000013833 |
Gene Name |
mediator complex subunit 16 |
Synonyms |
Thrap5, 95kDa, Trap95 |
MMRRC Submission |
040483-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2895 (G1)
|
Quality Score |
143 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
79730543-79744757 bp(-) (GRCm39) |
Type of Mutation |
splice site (211 bp from exon) |
DNA Base Change (assembly) |
G to A
at 79739005 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126729
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105378]
[ENSMUST00000164705]
[ENSMUST00000165684]
[ENSMUST00000166964]
[ENSMUST00000170409]
|
AlphaFold |
no structure available at present |
Predicted Effect |
silent
Transcript: ENSMUST00000105378
|
SMART Domains |
Protein: ENSMUSP00000101017 Gene: ENSMUSG00000013833
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
28 |
N/A |
INTRINSIC |
WD40
|
94 |
133 |
1.05e-7 |
SMART |
Blast:WD40
|
143 |
169 |
4e-8 |
BLAST |
low complexity region
|
206 |
217 |
N/A |
INTRINSIC |
WD40
|
226 |
267 |
1.53e2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163125
|
Predicted Effect |
probably null
Transcript: ENSMUST00000164705
|
SMART Domains |
Protein: ENSMUSP00000129229 Gene: ENSMUSG00000013833
Domain | Start | End | E-Value | Type |
WD40
|
10 |
49 |
1.05e-7 |
SMART |
Pfam:Med16
|
59 |
172 |
6.5e-33 |
PFAM |
|
Predicted Effect |
silent
Transcript: ENSMUST00000165684
|
SMART Domains |
Protein: ENSMUSP00000129375 Gene: ENSMUSG00000013833
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
25 |
N/A |
INTRINSIC |
WD40
|
95 |
134 |
1.05e-7 |
SMART |
Blast:WD40
|
144 |
170 |
4e-8 |
BLAST |
low complexity region
|
207 |
218 |
N/A |
INTRINSIC |
WD40
|
227 |
268 |
1.53e2 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000166964
|
SMART Domains |
Protein: ENSMUSP00000128463 Gene: ENSMUSG00000013833
Domain | Start | End | E-Value | Type |
WD40
|
59 |
98 |
1.05e-7 |
SMART |
Pfam:Med16
|
108 |
162 |
2.2e-12 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170375
|
Predicted Effect |
probably null
Transcript: ENSMUST00000170409
|
SMART Domains |
Protein: ENSMUSP00000126729 Gene: ENSMUSG00000013833
Domain | Start | End | E-Value | Type |
WD40
|
10 |
49 |
1.05e-7 |
SMART |
Pfam:Med16
|
59 |
105 |
1.1e-9 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
A |
G |
11: 110,093,252 (GRCm39) |
V1007A |
probably benign |
Het |
Abhd14b |
C |
T |
9: 106,327,313 (GRCm39) |
R32C |
probably benign |
Het |
Akirin1 |
T |
C |
4: 123,631,864 (GRCm39) |
E168G |
probably damaging |
Het |
Apol7e |
A |
T |
15: 77,598,667 (GRCm39) |
D44V |
possibly damaging |
Het |
Asic1 |
A |
G |
15: 99,594,483 (GRCm39) |
I310V |
probably benign |
Het |
Atp6v0a1 |
A |
G |
11: 100,935,424 (GRCm39) |
H661R |
probably benign |
Het |
Caskin1 |
A |
G |
17: 24,708,016 (GRCm39) |
R25G |
probably damaging |
Het |
Cd96 |
G |
T |
16: 45,938,168 (GRCm39) |
T99K |
probably benign |
Het |
Cep250 |
C |
A |
2: 155,834,042 (GRCm39) |
A1989D |
probably benign |
Het |
Clasp1 |
T |
G |
1: 118,387,568 (GRCm39) |
V78G |
probably damaging |
Het |
Cmklr2 |
T |
A |
1: 63,222,321 (GRCm39) |
I305L |
probably benign |
Het |
Col15a1 |
T |
C |
4: 47,312,091 (GRCm39) |
V1302A |
possibly damaging |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Cyb5r4 |
C |
T |
9: 86,922,452 (GRCm39) |
Q154* |
probably null |
Het |
Dnah7b |
T |
C |
1: 46,178,901 (GRCm39) |
F858S |
probably damaging |
Het |
Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
Igkv1-135 |
T |
A |
6: 67,587,332 (GRCm39) |
S68T |
probably benign |
Het |
Kmt2d |
G |
A |
15: 98,741,820 (GRCm39) |
|
probably benign |
Het |
Lonp1 |
A |
G |
17: 56,922,562 (GRCm39) |
L688P |
probably damaging |
Het |
Lpar6 |
A |
G |
14: 73,476,716 (GRCm39) |
K226E |
probably damaging |
Het |
Map3k19 |
T |
C |
1: 127,749,835 (GRCm39) |
D968G |
possibly damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Mrps7 |
A |
G |
11: 115,495,865 (GRCm39) |
M98V |
probably benign |
Het |
Ms4a14 |
A |
T |
19: 11,281,595 (GRCm39) |
I321N |
possibly damaging |
Het |
Muc5ac |
A |
G |
7: 141,344,877 (GRCm39) |
D116G |
possibly damaging |
Het |
Neu1 |
A |
G |
17: 35,151,758 (GRCm39) |
D184G |
probably benign |
Het |
Nolc1 |
CCAGCAGCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
19: 46,069,791 (GRCm39) |
|
probably benign |
Het |
Or11h23 |
T |
C |
14: 50,947,973 (GRCm39) |
F62S |
probably damaging |
Het |
Pcdh19 |
CTGTCTCCTCCA |
C |
X: 132,582,057 (GRCm39) |
|
probably null |
Het |
Pcdh19 |
TGTCTCCTCCACGTC |
TGTC |
X: 132,582,058 (GRCm39) |
|
probably null |
Het |
Plcz1 |
A |
G |
6: 139,968,877 (GRCm39) |
I187T |
possibly damaging |
Het |
Pot1b |
A |
T |
17: 55,994,939 (GRCm39) |
I241N |
probably damaging |
Het |
Ppp4r3c1 |
A |
G |
X: 88,976,005 (GRCm39) |
M64T |
possibly damaging |
Het |
Ptpre |
G |
A |
7: 135,245,587 (GRCm39) |
W11* |
probably null |
Het |
Rgsl1 |
T |
A |
1: 153,703,294 (GRCm39) |
E154V |
probably damaging |
Het |
Rnasel |
T |
C |
1: 153,636,522 (GRCm39) |
I634T |
probably damaging |
Het |
Scn10a |
A |
T |
9: 119,490,467 (GRCm39) |
S492T |
probably benign |
Het |
Sec24d |
T |
A |
3: 123,136,800 (GRCm39) |
V511E |
probably damaging |
Het |
Slc7a1 |
A |
G |
5: 148,277,402 (GRCm39) |
I371T |
probably benign |
Het |
Smg1 |
A |
G |
7: 117,788,366 (GRCm39) |
|
probably benign |
Het |
Sntg2 |
A |
T |
12: 30,276,845 (GRCm39) |
S402R |
probably benign |
Het |
Stfa3 |
C |
A |
16: 36,272,522 (GRCm39) |
L59F |
probably benign |
Het |
Tlr3 |
T |
C |
8: 45,850,629 (GRCm39) |
E756G |
possibly damaging |
Het |
Ttll4 |
T |
A |
1: 74,724,517 (GRCm39) |
H562Q |
possibly damaging |
Het |
|
Other mutations in Med16 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00977:Med16
|
APN |
10 |
79,743,459 (GRCm39) |
start codon destroyed |
probably null |
0.62 |
IGL02328:Med16
|
APN |
10 |
79,743,376 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03123:Med16
|
APN |
10 |
79,732,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R0139:Med16
|
UTSW |
10 |
79,732,635 (GRCm39) |
missense |
probably benign |
0.17 |
R0254:Med16
|
UTSW |
10 |
79,736,034 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1458:Med16
|
UTSW |
10 |
79,743,312 (GRCm39) |
unclassified |
probably benign |
|
R1483:Med16
|
UTSW |
10 |
79,738,934 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1524:Med16
|
UTSW |
10 |
79,734,150 (GRCm39) |
missense |
probably damaging |
1.00 |
R1612:Med16
|
UTSW |
10 |
79,735,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R1700:Med16
|
UTSW |
10 |
79,735,169 (GRCm39) |
missense |
probably benign |
0.10 |
R1900:Med16
|
UTSW |
10 |
79,734,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R1960:Med16
|
UTSW |
10 |
79,742,929 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2120:Med16
|
UTSW |
10 |
79,738,916 (GRCm39) |
missense |
possibly damaging |
0.63 |
R4419:Med16
|
UTSW |
10 |
79,734,216 (GRCm39) |
missense |
probably benign |
|
R4794:Med16
|
UTSW |
10 |
79,735,951 (GRCm39) |
missense |
probably damaging |
1.00 |
R4970:Med16
|
UTSW |
10 |
79,742,871 (GRCm39) |
critical splice donor site |
probably null |
|
R4975:Med16
|
UTSW |
10 |
79,738,839 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5724:Med16
|
UTSW |
10 |
79,731,243 (GRCm39) |
missense |
probably damaging |
1.00 |
R5926:Med16
|
UTSW |
10 |
79,738,362 (GRCm39) |
missense |
probably damaging |
0.99 |
R6185:Med16
|
UTSW |
10 |
79,732,197 (GRCm39) |
missense |
probably damaging |
1.00 |
R7097:Med16
|
UTSW |
10 |
79,739,177 (GRCm39) |
missense |
probably damaging |
1.00 |
R7346:Med16
|
UTSW |
10 |
79,744,650 (GRCm39) |
critical splice donor site |
probably null |
|
R7350:Med16
|
UTSW |
10 |
79,739,031 (GRCm39) |
missense |
probably damaging |
1.00 |
R7808:Med16
|
UTSW |
10 |
79,734,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R7877:Med16
|
UTSW |
10 |
79,734,206 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
|
Posted On |
2017-05-15 |