Incidental Mutation 'IGL02328:Med16'
| ID |
288566 |
| 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 # |
IGL02328
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
79730543-79744757 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79743376 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 29
(S29P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128463
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045628]
[ENSMUST00000105378]
[ENSMUST00000164705]
[ENSMUST00000165684]
[ENSMUST00000166964]
[ENSMUST00000170409]
[ENSMUST00000171416]
[ENSMUST00000181321]
[ENSMUST00000218970]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
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 damaging
Transcript: ENSMUST00000105378
AA Change: S64P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101017
Gene: ENSMUSG00000013833
AA Change: S64P
| 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 damaging
Transcript: ENSMUST00000165684
AA Change: S65P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129375
Gene: ENSMUSG00000013833
AA Change: S65P
| 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 damaging
Transcript: ENSMUST00000166964
AA Change: S29P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128463
Gene: ENSMUSG00000013833
AA Change: S29P
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
59 |
98 |
1.05e-7 |
SMART |
|
Pfam:Med16
|
108 |
162 |
2.2e-12 |
PFAM |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000178620
|
| Predicted Effect |
probably benign
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 |
probably benign
Transcript: ENSMUST00000181321
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218970
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219358
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
A |
13: 81,726,294 (GRCm39) |
N577I |
probably damaging |
Het |
| Arhgef1 |
T |
C |
7: 24,623,240 (GRCm39) |
L667P |
probably damaging |
Het |
| Btk |
G |
A |
X: 133,459,449 (GRCm39) |
P192L |
probably damaging |
Het |
| Col12a1 |
T |
A |
9: 79,589,348 (GRCm39) |
Y1069F |
probably damaging |
Het |
| Dnah7a |
C |
T |
1: 53,564,096 (GRCm39) |
|
probably null |
Het |
| E230025N22Rik |
A |
G |
18: 36,828,667 (GRCm39) |
S4P |
probably damaging |
Het |
| Ei24 |
A |
T |
9: 36,696,827 (GRCm39) |
|
probably null |
Het |
| Foxred2 |
A |
G |
15: 77,840,032 (GRCm39) |
L86P |
probably damaging |
Het |
| Gm3127 |
A |
T |
14: 15,424,989 (GRCm39) |
R42W |
probably damaging |
Het |
| Hgf |
A |
G |
5: 16,803,219 (GRCm39) |
Y377C |
probably damaging |
Het |
| Hpse2 |
A |
T |
19: 42,920,038 (GRCm39) |
L354I |
probably damaging |
Het |
| Hspa4 |
A |
G |
11: 53,190,885 (GRCm39) |
|
probably null |
Het |
| Iqcg |
T |
G |
16: 32,839,876 (GRCm39) |
I357L |
probably benign |
Het |
| Itsn1 |
T |
C |
16: 91,612,295 (GRCm39) |
L204P |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 34,152,594 (GRCm39) |
N311S |
probably damaging |
Het |
| Lmod2 |
A |
G |
6: 24,603,832 (GRCm39) |
D269G |
probably benign |
Het |
| Mex3b |
T |
C |
7: 82,518,920 (GRCm39) |
S412P |
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,417,433 (GRCm39) |
I3443V |
probably benign |
Het |
| Naip2 |
A |
T |
13: 100,297,877 (GRCm39) |
L720I |
probably damaging |
Het |
| Or1e26 |
A |
G |
11: 73,480,081 (GRCm39) |
V161A |
probably benign |
Het |
| Or4z4 |
T |
A |
19: 12,076,146 (GRCm39) |
I286F |
probably damaging |
Het |
| Or52ab4 |
A |
T |
7: 102,987,497 (GRCm39) |
I79F |
probably damaging |
Het |
| Or6c213 |
T |
C |
10: 129,573,895 (GRCm39) |
D297G |
probably benign |
Het |
| Or8b1b |
A |
T |
9: 38,375,972 (GRCm39) |
I212F |
probably benign |
Het |
| Pan3 |
A |
G |
5: 147,466,933 (GRCm39) |
|
probably null |
Het |
| Pitpnm2 |
T |
C |
5: 124,259,477 (GRCm39) |
Q1286R |
probably damaging |
Het |
| Scgb2b24 |
A |
G |
7: 33,438,050 (GRCm39) |
|
probably benign |
Het |
| Sh2b3 |
T |
C |
5: 121,955,922 (GRCm39) |
D520G |
probably benign |
Het |
| Skint4 |
T |
A |
4: 111,977,255 (GRCm39) |
I215N |
possibly damaging |
Het |
| Slc24a5 |
A |
G |
2: 124,922,559 (GRCm39) |
D107G |
probably damaging |
Het |
| Slit2 |
T |
C |
5: 48,387,646 (GRCm39) |
I549T |
probably damaging |
Het |
| Stambp |
A |
G |
6: 83,533,363 (GRCm39) |
L300P |
possibly damaging |
Het |
| Taf2 |
T |
C |
15: 54,891,772 (GRCm39) |
N1017S |
probably benign |
Het |
| Tm9sf2 |
T |
G |
14: 122,380,842 (GRCm39) |
V145G |
possibly damaging |
Het |
| Tor1aip2 |
G |
T |
1: 155,940,720 (GRCm39) |
C342F |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,206,233 (GRCm39) |
T4823M |
probably damaging |
Het |
| Vmn1r80 |
G |
T |
7: 11,927,405 (GRCm39) |
A172S |
probably benign |
Het |
| Vmn2r67 |
T |
A |
7: 84,799,898 (GRCm39) |
N447Y |
probably benign |
Het |
| Zbtb1 |
A |
G |
12: 76,433,450 (GRCm39) |
N479D |
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 |
|
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 |
2015-04-16 |
Incidental Mutation