Incidental Mutation 'R6793:Med15'
| ID |
532716 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Med15
|
| Ensembl Gene |
ENSMUSG00000012114 |
| Gene Name |
mediator complex subunit 15 |
| Synonyms |
A230074L19Rik, Pcqap |
| MMRRC Submission |
044906-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
R6793 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
17469072-17540811 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 17470567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012259]
[ENSMUST00000056962]
[ENSMUST00000080936]
[ENSMUST00000182117]
[ENSMUST00000182344]
[ENSMUST00000182368]
[ENSMUST00000232236]
[ENSMUST00000231674]
[ENSMUST00000232645]
|
| AlphaFold |
Q924H2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000012259
|
| SMART Domains |
Protein: ENSMUSP00000012259
Gene: ENSMUSG00000012114
| 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 benign
Transcript: ENSMUST00000080936
|
| SMART Domains |
Protein: ENSMUSP00000079737
Gene: ENSMUSG00000012114
| 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 |
probably benign
Transcript: ENSMUST00000182671
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232236
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182976
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183279
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231674
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232645
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
A |
T |
9: 124,058,052 (GRCm39) |
N19K |
possibly damaging |
Het |
| A2ml1 |
G |
A |
6: 128,523,292 (GRCm39) |
Q1215* |
probably null |
Het |
| Abraxas2 |
T |
C |
7: 132,476,563 (GRCm39) |
I98T |
probably damaging |
Het |
| Ankrd17 |
G |
A |
5: 90,413,371 (GRCm39) |
T1181I |
probably damaging |
Het |
| Bsn |
T |
A |
9: 107,991,814 (GRCm39) |
K1313* |
probably null |
Het |
| Chst4 |
A |
T |
8: 110,756,699 (GRCm39) |
V388D |
probably damaging |
Het |
| Ckap5 |
T |
G |
2: 91,399,054 (GRCm39) |
W613G |
probably damaging |
Het |
| Clock |
GACTCACT |
GACT |
5: 76,384,967 (GRCm39) |
|
probably null |
Het |
| Enpp1 |
T |
C |
10: 24,531,723 (GRCm39) |
D520G |
probably damaging |
Het |
| Epha3 |
T |
C |
16: 63,593,818 (GRCm39) |
N90S |
probably benign |
Het |
| Esp36 |
A |
T |
17: 38,728,005 (GRCm39) |
M92K |
unknown |
Het |
| Fam135a |
A |
G |
1: 24,107,006 (GRCm39) |
V44A |
possibly damaging |
Het |
| Fndc8 |
T |
C |
11: 82,788,412 (GRCm39) |
S81P |
probably damaging |
Het |
| Fsip2 |
T |
G |
2: 82,819,838 (GRCm39) |
N5190K |
probably benign |
Het |
| Gabrr1 |
T |
G |
4: 33,162,712 (GRCm39) |
V426G |
possibly damaging |
Het |
| Igkv6-15 |
T |
A |
6: 70,383,976 (GRCm39) |
M1L |
probably benign |
Het |
| Lrrc36 |
A |
G |
8: 106,185,065 (GRCm39) |
E614G |
probably damaging |
Het |
| Man1a2 |
A |
T |
3: 100,539,913 (GRCm39) |
I176K |
possibly damaging |
Het |
| Mapk4 |
T |
A |
18: 74,063,539 (GRCm39) |
N561I |
probably damaging |
Het |
| Mfsd2a |
A |
G |
4: 122,844,498 (GRCm39) |
V258A |
probably benign |
Het |
| Micu3 |
G |
A |
8: 40,833,736 (GRCm39) |
V457I |
probably damaging |
Het |
| Mov10l1 |
T |
A |
15: 88,880,387 (GRCm39) |
V291E |
possibly damaging |
Het |
| Naip2 |
T |
C |
13: 100,291,468 (GRCm39) |
S1157G |
probably benign |
Het |
| Ncbp1 |
T |
C |
4: 46,157,827 (GRCm39) |
I355T |
probably damaging |
Het |
| Or51s1 |
A |
G |
7: 102,558,935 (GRCm39) |
V37A |
probably benign |
Het |
| Or52ad1 |
T |
C |
7: 102,995,473 (GRCm39) |
T221A |
probably benign |
Het |
| Otub2 |
A |
G |
12: 103,355,278 (GRCm39) |
|
probably benign |
Het |
| Pcdh15 |
T |
C |
10: 74,466,971 (GRCm39) |
S1666P |
probably damaging |
Het |
| Pcdha12 |
T |
A |
18: 37,155,234 (GRCm39) |
V651E |
probably damaging |
Het |
| Pomt1 |
T |
C |
2: 32,132,961 (GRCm39) |
F186L |
probably damaging |
Het |
| Prl3d3 |
G |
A |
13: 27,345,044 (GRCm39) |
A140T |
probably benign |
Het |
| Ptprn |
G |
A |
1: 75,234,786 (GRCm39) |
T267I |
probably benign |
Het |
| Qrfprl |
C |
T |
6: 65,358,405 (GRCm39) |
A43V |
probably benign |
Het |
| Rhbdd2 |
T |
A |
5: 135,665,008 (GRCm39) |
I113N |
probably damaging |
Het |
| Saraf |
T |
A |
8: 34,635,767 (GRCm39) |
|
probably null |
Het |
| Slc41a2 |
T |
C |
10: 83,137,022 (GRCm39) |
|
probably null |
Het |
| Slc47a1 |
A |
G |
11: 61,250,229 (GRCm39) |
V352A |
probably benign |
Het |
| Tmem237 |
T |
C |
1: 59,153,375 (GRCm39) |
T49A |
probably benign |
Het |
| Tmem273 |
A |
C |
14: 32,528,778 (GRCm39) |
I48L |
probably benign |
Het |
| Tmprss11e |
C |
T |
5: 86,863,414 (GRCm39) |
C217Y |
probably damaging |
Het |
| Ubfd1 |
T |
C |
7: 121,667,103 (GRCm39) |
V140A |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,516,669 (GRCm39) |
|
probably null |
Het |
| Utrn |
T |
A |
10: 12,574,844 (GRCm39) |
I1028F |
possibly damaging |
Het |
| Virma |
C |
T |
4: 11,539,968 (GRCm39) |
T1479M |
probably damaging |
Het |
| Vwa7 |
G |
T |
17: 35,243,867 (GRCm39) |
R767L |
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 102,065,297 (GRCm39) |
Y1290* |
probably null |
Het |
| Zfp970 |
G |
A |
2: 177,167,338 (GRCm39) |
C304Y |
probably damaging |
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 |
|
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 |
|
|
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'- ACAGACTTACATGAGCACCTACTG -3'
(R):5'- ACCCTGTAGAGTGTAGAGAGCC -3'
Sequencing Primer
(F):5'- ACCTACTGGTGGCCCTG -3'
(R):5'- TAGAGAGCCTTTTTAGGAGCAG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation