Incidental Mutation 'R9045:Med13l'
| ID |
687976 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Med13l
|
| Ensembl Gene |
ENSMUSG00000018076 |
| Gene Name |
mediator complex subunit 13-like |
| Synonyms |
9030618F05Rik, Trap240L, 6330591G05Rik, Thrap2, 2210413I17Rik |
| MMRRC Submission |
068872-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R9045 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
118698744-118903503 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 118880816 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 1303
(V1303L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098379
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100816]
[ENSMUST00000201010]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100816
AA Change: V1303L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000098379
Gene: ENSMUSG00000018076
AA Change: V1303L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med13_N
|
1 |
380 |
2.5e-116 |
PFAM |
|
low complexity region
|
442 |
460 |
N/A |
INTRINSIC |
|
low complexity region
|
542 |
558 |
N/A |
INTRINSIC |
|
low complexity region
|
1020 |
1031 |
N/A |
INTRINSIC |
|
low complexity region
|
1044 |
1060 |
N/A |
INTRINSIC |
|
low complexity region
|
1541 |
1593 |
N/A |
INTRINSIC |
|
low complexity region
|
1601 |
1611 |
N/A |
INTRINSIC |
|
Pfam:Med13_C
|
1675 |
2197 |
1e-142 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201010
AA Change: V1303L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000144092
Gene: ENSMUSG00000018076
AA Change: V1303L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med13_N
|
1 |
380 |
1e-112 |
PFAM |
|
low complexity region
|
442 |
460 |
N/A |
INTRINSIC |
|
low complexity region
|
542 |
558 |
N/A |
INTRINSIC |
|
low complexity region
|
1020 |
1031 |
N/A |
INTRINSIC |
|
low complexity region
|
1044 |
1060 |
N/A |
INTRINSIC |
|
low complexity region
|
1541 |
1593 |
N/A |
INTRINSIC |
|
low complexity region
|
1601 |
1611 |
N/A |
INTRINSIC |
|
Pfam:Med13_C
|
1675 |
2206 |
1.7e-138 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.6%
|
| Validation Efficiency |
100% (66/66) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of the Mediator complex, a large complex of proteins that functions as a transcriptional coactivator for most RNA polymerase II-transcribed genes. The encoded protein is involved in early development of the heart and brain. Defects in this gene are a cause of transposition of the great arteries, dextro-looped (DTGA).[provided by RefSeq, Jul 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5930422O12Rik |
A |
C |
8: 33,919,362 (GRCm39) |
M61L |
|
Het |
| 9130401M01Rik |
G |
T |
15: 57,892,130 (GRCm39) |
A223E |
possibly damaging |
Het |
| Adgra1 |
T |
G |
7: 139,432,566 (GRCm39) |
L135V |
possibly damaging |
Het |
| Aida |
A |
G |
1: 183,094,940 (GRCm39) |
E127G |
possibly damaging |
Het |
| Ankrd31 |
T |
A |
13: 96,968,034 (GRCm39) |
L557* |
probably null |
Het |
| Atxn7l3 |
T |
A |
11: 102,183,272 (GRCm39) |
T221S |
probably damaging |
Het |
| Bbs7 |
A |
G |
3: 36,666,184 (GRCm39) |
S27P |
probably benign |
Het |
| Cela3b |
A |
T |
4: 137,152,110 (GRCm39) |
C116S |
possibly damaging |
Het |
| Clstn3 |
A |
C |
6: 124,408,921 (GRCm39) |
M909R |
probably damaging |
Het |
| Cnot2 |
T |
C |
10: 116,322,160 (GRCm39) |
E523G |
probably benign |
Het |
| Col12a1 |
T |
A |
9: 79,582,034 (GRCm39) |
T1406S |
probably benign |
Het |
| Cr2 |
A |
T |
1: 194,837,680 (GRCm39) |
N763K |
possibly damaging |
Het |
| Csmd1 |
A |
G |
8: 16,284,088 (GRCm39) |
F557L |
probably damaging |
Het |
| Cyth1 |
T |
C |
11: 118,073,090 (GRCm39) |
H270R |
possibly damaging |
Het |
| Epg5 |
T |
C |
18: 77,992,014 (GRCm39) |
L237P |
probably damaging |
Het |
| Fbxo36 |
G |
A |
1: 84,874,300 (GRCm39) |
D99N |
probably damaging |
Het |
| Fcgbpl1 |
T |
A |
7: 27,853,856 (GRCm39) |
C1607S |
probably damaging |
Het |
| Flot2 |
A |
G |
11: 77,950,023 (GRCm39) |
I417M |
probably benign |
Het |
| Fryl |
A |
G |
5: 73,182,118 (GRCm39) |
L143P |
|
Het |
| Gckr |
A |
G |
5: 31,457,353 (GRCm39) |
N122S |
possibly damaging |
Het |
| Gm3250 |
T |
A |
10: 77,617,932 (GRCm39) |
T149S |
unknown |
Het |
| Golga3 |
G |
A |
5: 110,340,963 (GRCm39) |
M552I |
probably benign |
Het |
| Grip1 |
T |
A |
10: 119,871,356 (GRCm39) |
D694E |
probably damaging |
Het |
| Heatr1 |
T |
C |
13: 12,428,233 (GRCm39) |
V790A |
probably benign |
Het |
| Ighv1-54 |
G |
A |
12: 115,157,500 (GRCm39) |
T49I |
probably benign |
Het |
| Iglv1 |
A |
G |
16: 18,904,053 (GRCm39) |
V22A |
probably benign |
Het |
| Lama1 |
A |
T |
17: 68,060,838 (GRCm39) |
Y722F |
|
Het |
| Laptm5 |
A |
T |
4: 130,655,955 (GRCm39) |
E91V |
|
Het |
| Lrig1 |
A |
G |
6: 94,585,688 (GRCm39) |
|
probably null |
Het |
| Mcph1 |
T |
G |
8: 18,682,443 (GRCm39) |
S527A |
probably benign |
Het |
| Mindy4 |
A |
G |
6: 55,295,283 (GRCm39) |
D741G |
probably benign |
Het |
| Myo15b |
T |
A |
11: 115,783,178 (GRCm39) |
*3034R |
probably null |
Het |
| Nfkbie |
A |
T |
17: 45,872,959 (GRCm39) |
K354I |
probably damaging |
Het |
| Npat |
A |
G |
9: 53,474,776 (GRCm39) |
N856S |
possibly damaging |
Het |
| Nr2c2ap |
A |
G |
8: 70,585,808 (GRCm39) |
D122G |
probably damaging |
Het |
| Nr4a3 |
C |
A |
4: 48,067,694 (GRCm39) |
T430K |
possibly damaging |
Het |
| Or12e10 |
C |
A |
2: 87,640,416 (GRCm39) |
S84Y |
probably damaging |
Het |
| Or52ab4 |
T |
G |
7: 102,987,903 (GRCm39) |
I214R |
probably damaging |
Het |
| Or5h25 |
A |
G |
16: 58,930,365 (GRCm39) |
S203P |
probably benign |
Het |
| Otud7b |
A |
G |
3: 96,059,895 (GRCm39) |
K397E |
probably benign |
Het |
| Pafah1b3 |
G |
T |
7: 24,996,898 (GRCm39) |
|
probably benign |
Het |
| Pcdhgc3 |
G |
T |
18: 37,940,669 (GRCm39) |
V357L |
probably damaging |
Het |
| Pde2a |
A |
G |
7: 101,152,498 (GRCm39) |
T354A |
unknown |
Het |
| Pira12 |
A |
G |
7: 3,897,547 (GRCm39) |
I516T |
possibly damaging |
Het |
| Rbfa |
T |
C |
18: 80,236,026 (GRCm39) |
H241R |
probably damaging |
Het |
| Rhox3c |
C |
T |
X: 36,651,303 (GRCm39) |
|
probably benign |
Het |
| Rps6ka1 |
C |
T |
4: 133,600,150 (GRCm39) |
|
probably benign |
Het |
| S1pr2 |
T |
C |
9: 20,878,890 (GRCm39) |
T313A |
probably benign |
Het |
| Sbno1 |
A |
G |
5: 124,543,720 (GRCm39) |
V273A |
probably benign |
Het |
| Scg3 |
T |
C |
9: 75,570,522 (GRCm39) |
N344S |
probably damaging |
Het |
| Serpinb1c |
C |
G |
13: 33,066,027 (GRCm39) |
G306A |
probably benign |
Het |
| Sh2d6 |
C |
T |
6: 72,492,604 (GRCm39) |
G206D |
probably benign |
Het |
| Slamf9 |
G |
A |
1: 172,304,938 (GRCm39) |
S184N |
probably damaging |
Het |
| Slc50a1 |
T |
C |
3: 89,176,042 (GRCm39) |
T168A |
probably damaging |
Het |
| Tas2r124 |
G |
C |
6: 132,732,034 (GRCm39) |
W114C |
probably damaging |
Het |
| Tgm4 |
C |
T |
9: 122,877,616 (GRCm39) |
T206I |
possibly damaging |
Het |
| Tmem52 |
A |
G |
4: 155,553,899 (GRCm39) |
|
probably null |
Het |
| Vmn2r102 |
A |
G |
17: 19,880,841 (GRCm39) |
K61E |
probably benign |
Het |
| Vmn2r58 |
T |
C |
7: 41,487,087 (GRCm39) |
I603V |
probably benign |
Het |
| Vstm2l |
G |
T |
2: 157,756,795 (GRCm39) |
G22V |
unknown |
Het |
| Vwa5b1 |
T |
A |
4: 138,315,990 (GRCm39) |
Y584F |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 101,995,040 (GRCm39) |
V3233D |
probably damaging |
Het |
| Wdhd1 |
A |
G |
14: 47,511,409 (GRCm39) |
V101A |
probably benign |
Het |
| Zfc3h1 |
C |
A |
10: 115,263,319 (GRCm39) |
Q1761K |
possibly damaging |
Het |
| Zfp180 |
G |
A |
7: 23,804,315 (GRCm39) |
V245I |
probably benign |
Het |
| Zfp846 |
A |
T |
9: 20,505,189 (GRCm39) |
I350L |
probably benign |
Het |
|
| Other mutations in Med13l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00232:Med13l
|
APN |
5 |
118,862,136 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01012:Med13l
|
APN |
5 |
118,872,093 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01316:Med13l
|
APN |
5 |
118,900,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01529:Med13l
|
APN |
5 |
118,880,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01731:Med13l
|
APN |
5 |
118,880,472 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01790:Med13l
|
APN |
5 |
118,731,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02394:Med13l
|
APN |
5 |
118,886,898 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL02432:Med13l
|
APN |
5 |
118,876,465 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02698:Med13l
|
APN |
5 |
118,900,894 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02801:Med13l
|
APN |
5 |
118,883,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03242:Med13l
|
APN |
5 |
118,885,510 (GRCm39) |
missense |
probably benign |
|
|
IGL03270:Med13l
|
APN |
5 |
118,869,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Basics
|
UTSW |
5 |
118,897,329 (GRCm39) |
critical splice donor site |
probably null |
|
|
firmament
|
UTSW |
5 |
118,883,071 (GRCm39) |
splice site |
probably null |
|
|
Fundament
|
UTSW |
5 |
118,859,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Root
|
UTSW |
5 |
118,731,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0035:Med13l
|
UTSW |
5 |
118,880,685 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0051:Med13l
|
UTSW |
5 |
118,880,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0051:Med13l
|
UTSW |
5 |
118,880,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0136:Med13l
|
UTSW |
5 |
118,862,115 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0158:Med13l
|
UTSW |
5 |
118,880,514 (GRCm39) |
missense |
unknown |
|
|
R0197:Med13l
|
UTSW |
5 |
118,809,067 (GRCm39) |
splice site |
probably benign |
|
|
R0370:Med13l
|
UTSW |
5 |
118,879,891 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0492:Med13l
|
UTSW |
5 |
118,876,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0532:Med13l
|
UTSW |
5 |
118,897,188 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0726:Med13l
|
UTSW |
5 |
118,886,749 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0738:Med13l
|
UTSW |
5 |
118,889,698 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0827:Med13l
|
UTSW |
5 |
118,864,312 (GRCm39) |
splice site |
probably benign |
|
|
R0883:Med13l
|
UTSW |
5 |
118,809,067 (GRCm39) |
splice site |
probably benign |
|
|
R0959:Med13l
|
UTSW |
5 |
118,892,350 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1458:Med13l
|
UTSW |
5 |
118,876,524 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1562:Med13l
|
UTSW |
5 |
118,876,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1577:Med13l
|
UTSW |
5 |
118,859,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1661:Med13l
|
UTSW |
5 |
118,887,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1665:Med13l
|
UTSW |
5 |
118,887,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1720:Med13l
|
UTSW |
5 |
118,880,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1929:Med13l
|
UTSW |
5 |
118,866,898 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1967:Med13l
|
UTSW |
5 |
118,899,387 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2301:Med13l
|
UTSW |
5 |
118,731,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3691:Med13l
|
UTSW |
5 |
118,859,562 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3895:Med13l
|
UTSW |
5 |
118,899,388 (GRCm39) |
missense |
probably null |
0.99 |
|
R4043:Med13l
|
UTSW |
5 |
118,731,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4593:Med13l
|
UTSW |
5 |
118,880,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4902:Med13l
|
UTSW |
5 |
118,883,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4995:Med13l
|
UTSW |
5 |
118,869,014 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5010:Med13l
|
UTSW |
5 |
118,731,615 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5057:Med13l
|
UTSW |
5 |
118,856,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5369:Med13l
|
UTSW |
5 |
118,862,075 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5446:Med13l
|
UTSW |
5 |
118,880,462 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5564:Med13l
|
UTSW |
5 |
118,880,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5566:Med13l
|
UTSW |
5 |
118,866,730 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5580:Med13l
|
UTSW |
5 |
118,889,695 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5634:Med13l
|
UTSW |
5 |
118,698,915 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5748:Med13l
|
UTSW |
5 |
118,731,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5764:Med13l
|
UTSW |
5 |
118,866,707 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5765:Med13l
|
UTSW |
5 |
118,866,707 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6083:Med13l
|
UTSW |
5 |
118,859,551 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6504:Med13l
|
UTSW |
5 |
118,892,386 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6546:Med13l
|
UTSW |
5 |
118,859,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6797:Med13l
|
UTSW |
5 |
118,897,329 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6911:Med13l
|
UTSW |
5 |
118,893,723 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6942:Med13l
|
UTSW |
5 |
118,883,071 (GRCm39) |
splice site |
probably null |
|
|
R7018:Med13l
|
UTSW |
5 |
118,890,051 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7096:Med13l
|
UTSW |
5 |
118,859,991 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7113:Med13l
|
UTSW |
5 |
118,864,330 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7136:Med13l
|
UTSW |
5 |
118,859,587 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7140:Med13l
|
UTSW |
5 |
118,880,037 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7345:Med13l
|
UTSW |
5 |
118,880,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7409:Med13l
|
UTSW |
5 |
118,892,386 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7410:Med13l
|
UTSW |
5 |
118,698,897 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7432:Med13l
|
UTSW |
5 |
118,890,003 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7486:Med13l
|
UTSW |
5 |
118,866,539 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7509:Med13l
|
UTSW |
5 |
118,886,995 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7722:Med13l
|
UTSW |
5 |
118,885,472 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7802:Med13l
|
UTSW |
5 |
118,866,655 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8081:Med13l
|
UTSW |
5 |
118,866,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8260:Med13l
|
UTSW |
5 |
118,886,794 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8266:Med13l
|
UTSW |
5 |
118,880,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8347:Med13l
|
UTSW |
5 |
118,880,662 (GRCm39) |
missense |
probably benign |
|
|
R8365:Med13l
|
UTSW |
5 |
118,866,709 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8508:Med13l
|
UTSW |
5 |
118,892,386 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8920:Med13l
|
UTSW |
5 |
118,885,543 (GRCm39) |
nonsense |
probably null |
|
|
R8970:Med13l
|
UTSW |
5 |
118,883,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8994:Med13l
|
UTSW |
5 |
118,866,226 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9401:Med13l
|
UTSW |
5 |
118,883,089 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9445:Med13l
|
UTSW |
5 |
118,862,214 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9446:Med13l
|
UTSW |
5 |
118,876,567 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9714:Med13l
|
UTSW |
5 |
118,866,438 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9777:Med13l
|
UTSW |
5 |
118,887,024 (GRCm39) |
missense |
probably benign |
|
|
R9781:Med13l
|
UTSW |
5 |
118,868,032 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9797:Med13l
|
UTSW |
5 |
118,880,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Med13l
|
UTSW |
5 |
118,867,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Med13l
|
UTSW |
5 |
118,887,706 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAGAATCAGCACACGCAG -3'
(R):5'- CTCAAAAGCTTAAGCAGAAGGC -3'
Sequencing Primer
(F):5'- GGATTACATCTCCTCCGCCAATC -3'
(R):5'- GCAGAAGGCAGCCCAATTC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation