Incidental Mutation 'IGL00977:Med16'
ID |
28422 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Med16
|
Ensembl Gene |
ENSMUSG00000013833 |
Gene Name |
mediator complex subunit 16 |
Synonyms |
Thrap5, 95kDa, Trap95 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00977
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
79730543-79744757 bp(-) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
A to T
at 79743459 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128463
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045628]
[ENSMUST00000105378]
[ENSMUST00000164705]
[ENSMUST00000165684]
[ENSMUST00000166964]
[ENSMUST00000170409]
[ENSMUST00000181321]
[ENSMUST00000218970]
[ENSMUST00000171416]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000045628
|
SMART Domains |
Protein: ENSMUSP00000044570 Gene: ENSMUSG00000035781
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
33 |
N/A |
INTRINSIC |
Pfam:R3H-assoc
|
43 |
177 |
1.2e-35 |
PFAM |
Pfam:R3H
|
181 |
244 |
7.2e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105378
AA Change: M36K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000101017 Gene: ENSMUSG00000013833 AA Change: M36K
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 benign
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 |
probably benign
Transcript: ENSMUST00000165684
AA Change: M37K
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000129375 Gene: ENSMUSG00000013833 AA Change: M37K
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
AA Change: M1K
PolyPhen 2
Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000128463 Gene: ENSMUSG00000013833 AA Change: M1K
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: ENSMUST00000178620
|
Predicted Effect |
probably benign
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000181321
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218970
|
Predicted Effect |
probably null
Transcript: ENSMUST00000171416
|
SMART Domains |
Protein: ENSMUSP00000132266 Gene: ENSMUSG00000035781
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
33 |
N/A |
INTRINSIC |
Pfam:R3H-assoc
|
43 |
177 |
4.9e-39 |
PFAM |
Pfam:R3H
|
183 |
243 |
1.1e-9 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219358
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,349,284 (GRCm39) |
F3619L |
probably damaging |
Het |
Asic5 |
T |
A |
3: 81,911,953 (GRCm39) |
V183E |
possibly damaging |
Het |
Atp2b1 |
T |
C |
10: 98,822,837 (GRCm39) |
V164A |
possibly damaging |
Het |
Bend3 |
A |
G |
10: 43,386,945 (GRCm39) |
Q446R |
possibly damaging |
Het |
Ccdc80 |
C |
A |
16: 44,916,627 (GRCm39) |
T461K |
probably benign |
Het |
Cep350 |
T |
A |
1: 155,808,611 (GRCm39) |
E655V |
probably null |
Het |
Chi3l1 |
T |
C |
1: 134,115,711 (GRCm39) |
F232L |
possibly damaging |
Het |
Degs1 |
T |
A |
1: 182,106,774 (GRCm39) |
I162F |
probably benign |
Het |
Dhdds |
A |
T |
4: 133,727,571 (GRCm39) |
|
probably benign |
Het |
Herc4 |
A |
T |
10: 63,147,346 (GRCm39) |
Y821F |
probably damaging |
Het |
Hpf1 |
A |
G |
8: 61,358,753 (GRCm39) |
H303R |
probably benign |
Het |
Kcnk10 |
A |
T |
12: 98,484,792 (GRCm39) |
C115S |
probably damaging |
Het |
Map3k13 |
T |
C |
16: 21,740,514 (GRCm39) |
S614P |
probably benign |
Het |
Me2 |
A |
T |
18: 73,924,248 (GRCm39) |
N321K |
probably benign |
Het |
Mycbp2 |
A |
G |
14: 103,410,078 (GRCm39) |
F2651L |
probably damaging |
Het |
Prrc2b |
C |
T |
2: 32,103,822 (GRCm39) |
T1100I |
probably benign |
Het |
Scn9a |
T |
A |
2: 66,314,645 (GRCm39) |
Q1680L |
probably damaging |
Het |
Sh3rf2 |
A |
G |
18: 42,244,283 (GRCm39) |
T250A |
probably benign |
Het |
Sting1 |
C |
T |
18: 35,867,620 (GRCm39) |
E359K |
probably damaging |
Het |
Tpp2 |
T |
C |
1: 44,022,451 (GRCm39) |
F950L |
possibly damaging |
Het |
Vmn2r129 |
C |
A |
4: 156,686,491 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Med16 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R2895:Med16
|
UTSW |
10 |
79,739,005 (GRCm39) |
splice site |
probably null |
|
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 |
|
|
Posted On |
2013-04-17 |