Incidental Mutation 'R2974:Med15'
| ID |
255332 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Med15
|
| Ensembl Gene |
ENSMUSG00000012114 |
| Gene Name |
mediator complex subunit 15 |
| Synonyms |
A230074L19Rik, Pcqap |
| MMRRC Submission |
040527-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
R2974 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
17469072-17540811 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 17470575 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 744
(Y744C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156291
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012259]
[ENSMUST00000056962]
[ENSMUST00000080936]
[ENSMUST00000182117]
[ENSMUST00000182344]
[ENSMUST00000182368]
[ENSMUST00000232645]
[ENSMUST00000232236]
[ENSMUST00000231674]
|
| AlphaFold |
Q924H2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000012259
AA Change: Y744C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000012259
Gene: ENSMUSG00000012114
AA Change: Y744C
| 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 |
probably damaging
Transcript: ENSMUST00000080936
AA Change: Y704C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079737
Gene: ENSMUSG00000012114
AA Change: Y704C
| 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: ENSMUST00000182344
|
| SMART Domains |
Protein: ENSMUSP00000138131
Gene: ENSMUSG00000041617
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CCDC92
|
18 |
79 |
1.4e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182368
|
| SMART Domains |
Protein: ENSMUSP00000138262
Gene: ENSMUSG00000041617
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
34 |
N/A |
INTRINSIC |
|
Pfam:CCDC92
|
49 |
110 |
2.9e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182526
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183101
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182822
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232645
AA Change: Y594C
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232236
AA Change: Y744C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182976
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183279
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232012
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231674
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231480
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182671
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231231
|
| Meta Mutation Damage Score |
0.9430 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
97% (38/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
G |
10: 79,844,801 (GRCm39) |
F1508V |
probably damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,953,358 (GRCm39) |
T428A |
probably benign |
Het |
| BC048507 |
T |
C |
13: 68,011,749 (GRCm39) |
I42T |
probably benign |
Het |
| Cop1 |
A |
G |
1: 159,152,499 (GRCm39) |
H583R |
possibly damaging |
Het |
| Crnkl1 |
A |
G |
2: 145,774,181 (GRCm39) |
L94P |
probably benign |
Het |
| Cstdc2 |
T |
C |
2: 148,692,706 (GRCm39) |
D32G |
probably benign |
Het |
| Ctu1 |
A |
G |
7: 43,325,074 (GRCm39) |
|
probably benign |
Het |
| D930007J09Rik |
C |
T |
13: 32,986,742 (GRCm39) |
|
probably benign |
Het |
| Depdc5 |
T |
C |
5: 33,091,361 (GRCm39) |
|
probably null |
Het |
| Dnah14 |
A |
T |
1: 181,582,806 (GRCm39) |
|
probably null |
Het |
| Dpp10 |
A |
G |
1: 123,339,434 (GRCm39) |
|
probably benign |
Het |
| Gsdme |
A |
G |
6: 50,206,304 (GRCm39) |
C180R |
probably damaging |
Het |
| Gse1 |
C |
A |
8: 121,297,636 (GRCm39) |
|
probably benign |
Het |
| Nlrp4d |
A |
G |
7: 10,112,367 (GRCm39) |
|
probably benign |
Het |
| Nyap2 |
C |
T |
1: 81,169,485 (GRCm39) |
R81* |
probably null |
Het |
| Or4p21 |
A |
T |
2: 88,276,918 (GRCm39) |
C121* |
probably null |
Het |
| Or8g30 |
T |
C |
9: 39,230,292 (GRCm39) |
N206S |
probably damaging |
Het |
| Phax |
T |
A |
18: 56,706,134 (GRCm39) |
M8K |
probably benign |
Het |
| Plec |
C |
G |
15: 76,072,961 (GRCm39) |
G631R |
probably damaging |
Het |
| Rgs3 |
A |
T |
4: 62,558,957 (GRCm39) |
T476S |
probably damaging |
Het |
| Rogdi |
G |
T |
16: 4,829,526 (GRCm39) |
Q90K |
probably damaging |
Het |
| Rxrg |
G |
A |
1: 167,466,715 (GRCm39) |
R422H |
probably damaging |
Het |
| Serpinb9e |
T |
A |
13: 33,439,126 (GRCm39) |
V184E |
probably benign |
Het |
| Simc1 |
A |
G |
13: 54,698,274 (GRCm39) |
D397G |
probably damaging |
Het |
| Slc25a27 |
T |
C |
17: 43,964,262 (GRCm39) |
N203D |
probably damaging |
Het |
| Slit1 |
G |
A |
19: 41,599,455 (GRCm39) |
P1032L |
probably benign |
Het |
| Sptlc3 |
A |
G |
2: 139,431,581 (GRCm39) |
T368A |
probably damaging |
Het |
| Tnip1 |
C |
T |
11: 54,824,809 (GRCm39) |
|
probably benign |
Het |
| Tpgs1 |
A |
G |
10: 79,505,449 (GRCm39) |
E69G |
probably damaging |
Het |
| Trpv5 |
T |
C |
6: 41,630,165 (GRCm39) |
S642G |
possibly damaging |
Het |
| Ube2d2a |
T |
A |
18: 35,933,225 (GRCm39) |
D87E |
possibly damaging |
Het |
| Vmn2r117 |
A |
G |
17: 23,678,830 (GRCm39) |
V798A |
probably damaging |
Het |
| Vmn2r77 |
T |
C |
7: 86,452,893 (GRCm39) |
Y537H |
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 |
|
|
R3808:Med15
|
UTSW |
16 |
17,473,598 (GRCm39) |
unclassified |
probably benign |
|
|
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'- GACTTACATGAGCACCTACTGG -3'
(R):5'- ACCCTGTAGAGTGTAGAGAGC -3'
Sequencing Primer
(F):5'- ACCTACTGGTGGCCCTG -3'
(R):5'- TAGAGAGCCTTTTTAGGAGCAG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation