Incidental Mutation 'R3808:Med15'
| ID |
275065 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Med15
|
| Ensembl Gene |
ENSMUSG00000012114 |
| Gene Name |
mediator complex subunit 15 |
| Synonyms |
A230074L19Rik, Pcqap |
| MMRRC Submission |
040765-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
R3808 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
17469072-17540811 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 17473598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012259]
[ENSMUST00000056962]
[ENSMUST00000080936]
[ENSMUST00000182117]
[ENSMUST00000231674]
[ENSMUST00000232236]
[ENSMUST00000232645]
|
| AlphaFold |
Q924H2 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000012259
AA Change: M452I
|
| SMART Domains |
Protein: ENSMUSP00000012259
Gene: ENSMUSG00000012114
AA Change: M452I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med15
|
17 |
789 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056962
|
| SMART Domains |
Protein: ENSMUSP00000049541
Gene: ENSMUSG00000041617
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
34 |
N/A |
INTRINSIC |
|
Pfam:CCDC92
|
50 |
105 |
4.1e-24 |
PFAM |
|
low complexity region
|
154 |
164 |
N/A |
INTRINSIC |
|
Pfam:CCDC74_C
|
209 |
326 |
1.4e-49 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000080936
AA Change: M412I
|
| SMART Domains |
Protein: ENSMUSP00000079737
Gene: ENSMUSG00000012114
AA Change: M412I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med15
|
17 |
749 |
1.2e-276 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182117
|
| SMART Domains |
Protein: ENSMUSP00000138657
Gene: ENSMUSG00000041617
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:CCDC92
|
36 |
97 |
2e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182671
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183279
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231231
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000231674
AA Change: C47Y
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000232236
AA Change: M452I
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000232645
AA Change: M302I
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231480
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232012
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Aldh3a2 |
G |
T |
11: 61,149,623 (GRCm39) |
L248M |
probably damaging |
Het |
| Als2 |
A |
G |
1: 59,209,609 (GRCm39) |
S1458P |
probably benign |
Het |
| Aoc1l3 |
C |
T |
6: 48,964,928 (GRCm39) |
P312L |
possibly damaging |
Het |
| Arhgap5 |
A |
G |
12: 52,613,970 (GRCm39) |
E192G |
possibly damaging |
Het |
| Atg2a |
A |
G |
19: 6,302,846 (GRCm39) |
K1019R |
possibly damaging |
Het |
| Atp2b1 |
A |
G |
10: 98,839,010 (GRCm39) |
K613E |
possibly damaging |
Het |
| Carm1 |
T |
C |
9: 21,498,258 (GRCm39) |
C421R |
probably damaging |
Het |
| Cdh17 |
A |
T |
4: 11,795,671 (GRCm39) |
Y417F |
probably damaging |
Het |
| Cers1 |
A |
G |
8: 70,782,660 (GRCm39) |
D10G |
possibly damaging |
Het |
| Clptm1l |
A |
C |
13: 73,760,573 (GRCm39) |
M319L |
probably benign |
Het |
| Cntnap3 |
A |
G |
13: 64,929,618 (GRCm39) |
V527A |
probably damaging |
Het |
| Creb3l2 |
A |
G |
6: 37,332,625 (GRCm39) |
S290P |
probably damaging |
Het |
| Dock4 |
T |
G |
12: 40,722,809 (GRCm39) |
V305G |
probably damaging |
Het |
| Dtl |
A |
C |
1: 191,280,466 (GRCm39) |
L356R |
probably damaging |
Het |
| Eftud2 |
A |
T |
11: 102,732,289 (GRCm39) |
|
probably null |
Het |
| Eif2b4 |
A |
G |
5: 31,348,512 (GRCm39) |
S88P |
possibly damaging |
Het |
| Fat4 |
T |
G |
3: 39,036,587 (GRCm39) |
V3413G |
possibly damaging |
Het |
| Fgfr2 |
T |
C |
7: 129,801,578 (GRCm39) |
M218V |
probably benign |
Het |
| Grin2b |
A |
G |
6: 135,900,269 (GRCm39) |
L204P |
probably damaging |
Het |
| Kcnj12 |
A |
G |
11: 60,961,103 (GRCm39) |
N467S |
probably benign |
Het |
| Klhdc3 |
T |
A |
17: 46,988,858 (GRCm39) |
N111Y |
possibly damaging |
Het |
| Lin9 |
A |
G |
1: 180,486,676 (GRCm39) |
I81V |
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,331,892 (GRCm39) |
D1621G |
probably damaging |
Het |
| Lrp4 |
T |
A |
2: 91,307,047 (GRCm39) |
D389E |
probably damaging |
Het |
| Nbea |
T |
C |
3: 55,625,269 (GRCm39) |
N2274S |
probably benign |
Het |
| Nr3c2 |
G |
A |
8: 77,635,343 (GRCm39) |
G148D |
probably damaging |
Het |
| Or10s1 |
A |
T |
9: 39,985,605 (GRCm39) |
M5L |
probably benign |
Het |
| Or14j6 |
T |
C |
17: 38,214,464 (GRCm39) |
V9A |
probably benign |
Het |
| Or4c112 |
G |
T |
2: 88,853,770 (GRCm39) |
H192Q |
probably benign |
Het |
| Paxip1 |
A |
G |
5: 27,977,027 (GRCm39) |
|
probably benign |
Het |
| Pfas |
T |
C |
11: 68,880,779 (GRCm39) |
|
probably benign |
Het |
| Plin3 |
C |
A |
17: 56,593,275 (GRCm39) |
A96S |
probably damaging |
Het |
| Pnck |
T |
A |
X: 72,700,550 (GRCm39) |
I288F |
probably damaging |
Het |
| Ppp4c |
C |
T |
7: 126,386,499 (GRCm39) |
G166D |
probably damaging |
Het |
| Prss43 |
A |
T |
9: 110,656,840 (GRCm39) |
R115S |
probably damaging |
Het |
| Rassf2 |
T |
C |
2: 131,840,180 (GRCm39) |
|
probably null |
Het |
| Rdh16f1 |
T |
A |
10: 127,624,568 (GRCm39) |
D135E |
probably benign |
Het |
| Rdh16f1 |
G |
A |
10: 127,624,569 (GRCm39) |
V136M |
probably damaging |
Het |
| Rgs12 |
A |
G |
5: 35,189,698 (GRCm39) |
E702G |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,370,384 (GRCm39) |
K4728E |
probably damaging |
Het |
| Ros1 |
T |
G |
10: 51,996,944 (GRCm39) |
T1243P |
probably benign |
Het |
| Sall1 |
G |
A |
8: 89,758,101 (GRCm39) |
Q668* |
probably null |
Het |
| Sbf2 |
C |
A |
7: 110,088,487 (GRCm39) |
*45L |
probably null |
Het |
| Serpina3j |
A |
T |
12: 104,286,086 (GRCm39) |
I414F |
probably benign |
Het |
| Sh2d3c |
T |
C |
2: 32,636,108 (GRCm39) |
Y159H |
probably damaging |
Het |
| Slamf1 |
A |
G |
1: 171,625,745 (GRCm39) |
D307G |
probably null |
Het |
| Slc22a13 |
T |
C |
9: 119,025,143 (GRCm39) |
T178A |
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,736,536 (GRCm39) |
L588H |
probably damaging |
Het |
| Trim12a |
G |
A |
7: 103,956,201 (GRCm39) |
A113V |
probably benign |
Het |
| Vil1 |
T |
C |
1: 74,466,772 (GRCm39) |
V654A |
probably benign |
Het |
| Vmn1r202 |
T |
C |
13: 22,686,070 (GRCm39) |
T116A |
possibly damaging |
Het |
| Zfp267 |
T |
G |
3: 36,219,792 (GRCm39) |
|
probably null |
Het |
| Zfp607a |
G |
A |
7: 27,578,826 (GRCm39) |
R632H |
probably benign |
Het |
|
| Other mutations in Med15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00235:Med15
|
APN |
16 |
17,498,590 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL00780:Med15
|
APN |
16 |
17,471,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02365:Med15
|
APN |
16 |
17,489,470 (GRCm39) |
intron |
probably benign |
|
|
R0324:Med15
|
UTSW |
16 |
17,515,476 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1225:Med15
|
UTSW |
16 |
17,540,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1695:Med15
|
UTSW |
16 |
17,540,644 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1745:Med15
|
UTSW |
16 |
17,473,570 (GRCm39) |
unclassified |
probably benign |
|
|
R1801:Med15
|
UTSW |
16 |
17,498,599 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1838:Med15
|
UTSW |
16 |
17,471,426 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1901:Med15
|
UTSW |
16 |
17,491,018 (GRCm39) |
unclassified |
probably benign |
|
|
R2153:Med15
|
UTSW |
16 |
17,503,315 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2974:Med15
|
UTSW |
16 |
17,470,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3809:Med15
|
UTSW |
16 |
17,473,598 (GRCm39) |
unclassified |
probably benign |
|
|
R4240:Med15
|
UTSW |
16 |
17,473,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4483:Med15
|
UTSW |
16 |
17,489,428 (GRCm39) |
intron |
probably benign |
|
|
R4484:Med15
|
UTSW |
16 |
17,489,428 (GRCm39) |
intron |
probably benign |
|
|
R4577:Med15
|
UTSW |
16 |
17,492,379 (GRCm39) |
nonsense |
probably null |
|
|
R5652:Med15
|
UTSW |
16 |
17,473,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6244:Med15
|
UTSW |
16 |
17,470,609 (GRCm39) |
nonsense |
probably null |
|
|
R6701:Med15
|
UTSW |
16 |
17,489,447 (GRCm39) |
intron |
probably benign |
|
|
R6793:Med15
|
UTSW |
16 |
17,470,567 (GRCm39) |
unclassified |
probably benign |
|
|
R7036:Med15
|
UTSW |
16 |
17,516,019 (GRCm39) |
start codon destroyed |
probably null |
|
|
R7038:Med15
|
UTSW |
16 |
17,470,591 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7211:Med15
|
UTSW |
16 |
17,515,977 (GRCm39) |
missense |
unknown |
|
|
R7317:Med15
|
UTSW |
16 |
17,489,507 (GRCm39) |
missense |
unknown |
|
|
R7390:Med15
|
UTSW |
16 |
17,540,626 (GRCm39) |
missense |
unknown |
|
|
R7471:Med15
|
UTSW |
16 |
17,540,729 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7726:Med15
|
UTSW |
16 |
17,473,038 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8872:Med15
|
UTSW |
16 |
17,470,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9043:Med15
|
UTSW |
16 |
17,470,582 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9084:Med15
|
UTSW |
16 |
17,471,072 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9089:Med15
|
UTSW |
16 |
17,473,421 (GRCm39) |
missense |
unknown |
|
|
R9363:Med15
|
UTSW |
16 |
17,489,414 (GRCm39) |
missense |
unknown |
|
|
Z1177:Med15
|
UTSW |
16 |
17,471,096 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCACTGGGCTCTGAGAAG -3'
(R):5'- TATGTGTGCCCAGAGGTAAGG -3'
Sequencing Primer
(F):5'- CTCTGAGAAGGCTGTGGTGAAG -3'
(R):5'- CCAGAGGTAAGGCTTGTGC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation