Incidental Mutation 'R5926:Med16'
| ID |
501645 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Med16
|
| Ensembl Gene |
ENSMUSG00000013833 |
| Gene Name |
mediator complex subunit 16 |
| Synonyms |
Thrap5, 95kDa, Trap95 |
| MMRRC Submission |
044121-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5926 (G1)
|
| Quality Score |
217 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
79730543-79744757 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 79738362 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 319
(V319M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129375
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105378]
[ENSMUST00000164705]
[ENSMUST00000165684]
[ENSMUST00000166964]
[ENSMUST00000170409]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105378
AA Change: V318M
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101017
Gene: ENSMUSG00000013833
AA Change: V318M
| 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: V319M
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000129375
Gene: ENSMUSG00000013833
AA Change: V319M
| 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 benign
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 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
A |
6: 128,537,608 (GRCm39) |
Y701F |
probably benign |
Het |
| Abra |
T |
A |
15: 41,729,650 (GRCm39) |
H250L |
probably damaging |
Het |
| Acer2 |
T |
C |
4: 86,792,805 (GRCm39) |
V27A |
probably benign |
Het |
| Arhgef15 |
A |
G |
11: 68,842,781 (GRCm39) |
L343S |
possibly damaging |
Het |
| Arnt2 |
G |
T |
7: 83,993,154 (GRCm39) |
H129N |
probably damaging |
Het |
| Atp9a |
T |
A |
2: 168,548,191 (GRCm39) |
Y63F |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,458,087 (GRCm39) |
T213A |
probably benign |
Het |
| Cdk5r1 |
T |
C |
11: 80,369,128 (GRCm39) |
|
probably null |
Het |
| Cyb5r4 |
C |
T |
9: 86,939,314 (GRCm39) |
L366F |
probably benign |
Het |
| Cyp20a1 |
T |
A |
1: 60,402,401 (GRCm39) |
I162K |
possibly damaging |
Het |
| Dcaf1 |
T |
C |
9: 106,715,561 (GRCm39) |
V226A |
probably benign |
Het |
| Ddx41 |
A |
T |
13: 55,682,112 (GRCm39) |
M232K |
probably damaging |
Het |
| Dnm1 |
C |
T |
2: 32,205,816 (GRCm39) |
V99I |
probably benign |
Het |
| Doc2a |
T |
C |
7: 126,448,697 (GRCm39) |
V134A |
probably damaging |
Het |
| Ghdc |
C |
T |
11: 100,659,063 (GRCm39) |
V380M |
possibly damaging |
Het |
| Gldn |
A |
G |
9: 54,245,722 (GRCm39) |
I424M |
possibly damaging |
Het |
| Haus6 |
A |
T |
4: 86,517,553 (GRCm39) |
H270Q |
probably benign |
Het |
| Hfe |
A |
T |
13: 23,892,247 (GRCm39) |
M39K |
probably damaging |
Het |
| Jakmip1 |
C |
T |
5: 37,242,624 (GRCm39) |
|
probably benign |
Het |
| Kcnb2 |
A |
G |
1: 15,383,235 (GRCm39) |
N187S |
probably benign |
Het |
| Kcnd2 |
A |
G |
6: 21,217,084 (GRCm39) |
S263G |
probably damaging |
Het |
| Kcnh1 |
A |
G |
1: 192,095,385 (GRCm39) |
N481S |
probably benign |
Het |
| Kcnn2 |
A |
G |
18: 45,818,351 (GRCm39) |
I343V |
probably benign |
Het |
| L3hypdh |
T |
A |
12: 72,123,959 (GRCm39) |
S300C |
probably damaging |
Het |
| Lrit1 |
T |
A |
14: 36,776,966 (GRCm39) |
C29S |
probably damaging |
Het |
| Mark3 |
T |
A |
12: 111,559,168 (GRCm39) |
V70E |
probably damaging |
Het |
| Mindy3 |
T |
C |
2: 12,352,911 (GRCm39) |
Y430C |
probably damaging |
Het |
| Mup5 |
A |
T |
4: 61,751,286 (GRCm39) |
F121I |
probably benign |
Het |
| Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
| Notch1 |
A |
G |
2: 26,366,116 (GRCm39) |
Y813H |
probably benign |
Het |
| Or10a3m |
T |
C |
7: 108,312,794 (GRCm39) |
L66S |
probably damaging |
Het |
| Or5p53 |
T |
C |
7: 107,533,110 (GRCm39) |
S128P |
probably damaging |
Het |
| Or6b2b |
A |
T |
1: 92,419,288 (GRCm39) |
L63Q |
probably damaging |
Het |
| Pi4kb |
A |
G |
3: 94,906,307 (GRCm39) |
Y301C |
probably damaging |
Het |
| Ptch1 |
A |
G |
13: 63,692,869 (GRCm39) |
S244P |
probably benign |
Het |
| Ptprn |
G |
A |
1: 75,231,242 (GRCm39) |
T554I |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,406,606 (GRCm39) |
I969V |
probably benign |
Het |
| Raf1 |
T |
C |
6: 115,596,859 (GRCm39) |
M519V |
probably benign |
Het |
| Ryr1 |
A |
G |
7: 28,803,785 (GRCm39) |
V622A |
probably damaging |
Het |
| Spaca4 |
G |
T |
7: 45,374,719 (GRCm39) |
H94Q |
probably benign |
Het |
| Spata31 |
A |
G |
13: 65,068,539 (GRCm39) |
D229G |
possibly damaging |
Het |
| Tbx6 |
G |
A |
7: 126,384,025 (GRCm39) |
A359T |
possibly damaging |
Het |
| Trpm8 |
T |
A |
1: 88,258,469 (GRCm39) |
Y251N |
probably damaging |
Het |
| Vps16 |
T |
A |
2: 130,285,476 (GRCm39) |
N806K |
probably damaging |
Het |
| Vwf |
T |
C |
6: 125,581,137 (GRCm39) |
F592L |
probably 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 |
|
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 |
|
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 |
PCR Primer
(F):5'- AGATCAATCTGAGAAAATTAACGGC -3'
(R):5'- AGTCATGGGTTACCTGGCT -3'
Sequencing Primer
(F):5'- GAGTTCCATGCATTCAAGGC -3'
(R):5'- ATGGGTTACCTGGCTTCCCATTG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation