Incidental Mutation 'R4419:Med16'
| ID |
327007 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Med16
|
| Ensembl Gene |
ENSMUSG00000013833 |
| Gene Name |
mediator complex subunit 16 |
| Synonyms |
Thrap5, 95kDa, Trap95 |
| MMRRC Submission |
041140-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4419 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
79730543-79744757 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 79734216 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 566
(A566V)
|
| 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 benign
Transcript: ENSMUST00000105378
AA Change: A565V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101017
Gene: ENSMUSG00000013833
AA Change: A565V
| 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: A566V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000129375
Gene: ENSMUSG00000013833
AA Change: A566V
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amdhd2 |
G |
A |
17: 24,377,652 (GRCm39) |
P126L |
probably benign |
Het |
| Arfip2 |
T |
C |
7: 105,288,270 (GRCm39) |
T44A |
probably damaging |
Het |
| B4galt1 |
A |
G |
4: 40,853,537 (GRCm39) |
V90A |
probably benign |
Het |
| Bad |
C |
A |
19: 6,928,053 (GRCm39) |
A115E |
probably benign |
Het |
| Bicc1 |
A |
G |
10: 70,782,804 (GRCm39) |
L521P |
possibly damaging |
Het |
| Caskin1 |
T |
C |
17: 24,723,683 (GRCm39) |
S824P |
probably damaging |
Het |
| Cblb |
T |
A |
16: 51,867,621 (GRCm39) |
D76E |
possibly damaging |
Het |
| Celsr3 |
G |
T |
9: 108,720,443 (GRCm39) |
A2572S |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 47,567,707 (GRCm39) |
Q2152R |
probably damaging |
Het |
| D2hgdh |
T |
A |
1: 93,757,535 (GRCm39) |
V150E |
probably damaging |
Het |
| Ddn |
C |
A |
15: 98,703,492 (GRCm39) |
W600L |
probably benign |
Het |
| Dicer1 |
A |
T |
12: 104,671,373 (GRCm39) |
Y966N |
probably damaging |
Het |
| Dsp |
T |
A |
13: 38,379,108 (GRCm39) |
I1352N |
probably damaging |
Het |
| Duox1 |
G |
A |
2: 122,157,607 (GRCm39) |
A578T |
probably benign |
Het |
| Dysf |
T |
C |
6: 84,184,224 (GRCm39) |
|
probably null |
Het |
| Elmo2 |
T |
C |
2: 165,153,675 (GRCm39) |
|
probably null |
Het |
| Heg1 |
A |
T |
16: 33,547,805 (GRCm39) |
E864V |
probably benign |
Het |
| Hoxb9 |
T |
C |
11: 96,162,807 (GRCm39) |
V147A |
probably benign |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Ky |
G |
A |
9: 102,419,909 (GRCm39) |
V639I |
probably damaging |
Het |
| Mettl17 |
G |
T |
14: 52,124,729 (GRCm39) |
G167C |
possibly damaging |
Het |
| Mgat4b |
T |
C |
11: 50,123,813 (GRCm39) |
F318L |
probably damaging |
Het |
| Mug2 |
C |
A |
6: 122,056,589 (GRCm39) |
A1178D |
probably damaging |
Het |
| Myo3b |
A |
G |
2: 69,926,706 (GRCm39) |
D51G |
probably damaging |
Het |
| Naip2 |
T |
C |
13: 100,297,133 (GRCm39) |
N968D |
probably benign |
Het |
| Nbea |
T |
C |
3: 55,917,021 (GRCm39) |
H820R |
probably damaging |
Het |
| Nqo1 |
C |
T |
8: 108,118,749 (GRCm39) |
|
probably null |
Het |
| Or10ak7 |
A |
T |
4: 118,791,586 (GRCm39) |
I153N |
possibly damaging |
Het |
| Or6c68 |
T |
C |
10: 129,157,684 (GRCm39) |
F64S |
possibly damaging |
Het |
| Or8b51 |
C |
T |
9: 38,569,365 (GRCm39) |
V108I |
probably benign |
Het |
| Ppargc1a |
T |
C |
5: 51,652,044 (GRCm39) |
D218G |
probably damaging |
Het |
| Rras |
A |
G |
7: 44,670,003 (GRCm39) |
D145G |
probably damaging |
Het |
| Scn3a |
C |
A |
2: 65,297,304 (GRCm39) |
G1452C |
probably damaging |
Het |
| Slc22a2 |
C |
A |
17: 12,831,473 (GRCm39) |
S421* |
probably null |
Het |
| Slc39a10 |
A |
G |
1: 46,849,226 (GRCm39) |
F797L |
probably benign |
Het |
| Spta1 |
T |
A |
1: 174,074,990 (GRCm39) |
Y2405* |
probably null |
Het |
| Ss18 |
A |
G |
18: 14,766,662 (GRCm39) |
Y359H |
unknown |
Het |
| St14 |
C |
T |
9: 31,008,224 (GRCm39) |
C537Y |
probably damaging |
Het |
| Tmem252 |
T |
A |
19: 24,654,910 (GRCm39) |
Y96N |
probably damaging |
Het |
| Trafd1 |
T |
C |
5: 121,511,396 (GRCm39) |
D474G |
probably benign |
Het |
| Trmt1l |
A |
G |
1: 151,316,559 (GRCm39) |
I20M |
probably damaging |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Vmn1r43 |
A |
G |
6: 89,846,629 (GRCm39) |
S286P |
probably benign |
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 |
|
|
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 |
PCR Primer
(F):5'- GATTAAACGGCGACTACGACCC -3'
(R):5'- TGTATGCATTGAGGGGAGCC -3'
Sequencing Primer
(F):5'- CCTTGCCTTTTACATACGGGAAGG -3'
(R):5'- AGCCCAGAGAGGTGACC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation