Incidental Mutation 'IGL01012:Med13l'
| ID |
53564 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Med13l
|
| Ensembl Gene |
ENSMUSG00000018076 |
| Gene Name |
mediator complex subunit 13-like |
| Synonyms |
9030618F05Rik, Trap240L, 6330591G05Rik, Thrap2, 2210413I17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
IGL01012
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
118698744-118903503 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 118872093 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 842
(D842N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144092
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100816]
[ENSMUST00000201010]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100816
AA Change: D842N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000098379
Gene: ENSMUSG00000018076
AA Change: D842N
| 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 damaging
Transcript: ENSMUST00000201010
AA Change: D842N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144092
Gene: ENSMUSG00000018076
AA Change: D842N
| 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 |
|
| Validation Efficiency |
|
| 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 |
|---|
| Ablim3 |
A |
T |
18: 61,972,772 (GRCm39) |
M249K |
possibly damaging |
Het |
| Adamtsl1 |
T |
C |
4: 86,260,426 (GRCm39) |
F879S |
possibly damaging |
Het |
| Afap1l2 |
T |
C |
19: 56,918,693 (GRCm39) |
E30G |
probably damaging |
Het |
| Aqp9 |
A |
G |
9: 71,037,831 (GRCm39) |
|
probably benign |
Het |
| Arhgap17 |
A |
T |
7: 122,885,791 (GRCm39) |
|
probably benign |
Het |
| Arhgef10 |
T |
C |
8: 15,029,977 (GRCm39) |
S921P |
probably damaging |
Het |
| Atp6v0e2 |
T |
C |
6: 48,514,749 (GRCm39) |
I22T |
probably damaging |
Het |
| AY074887 |
C |
T |
9: 54,857,963 (GRCm39) |
|
probably benign |
Het |
| Bcl2l15 |
T |
A |
3: 103,740,730 (GRCm39) |
D65E |
probably damaging |
Het |
| C2cd6 |
A |
T |
1: 59,036,507 (GRCm39) |
|
probably benign |
Het |
| Ccdc138 |
G |
A |
10: 58,376,737 (GRCm39) |
|
probably null |
Het |
| Ccdc7b |
A |
G |
8: 129,904,838 (GRCm39) |
T159A |
possibly damaging |
Het |
| Ccser1 |
A |
G |
6: 61,615,474 (GRCm39) |
T659A |
probably benign |
Het |
| Cd300ld2 |
T |
A |
11: 114,903,123 (GRCm39) |
I241F |
probably benign |
Het |
| Cep192 |
T |
A |
18: 67,945,477 (GRCm39) |
N192K |
possibly damaging |
Het |
| Csmd1 |
T |
C |
8: 15,967,341 (GRCm39) |
K3174R |
probably benign |
Het |
| Dpy30 |
A |
T |
17: 74,614,749 (GRCm39) |
L65I |
probably damaging |
Het |
| Eci2 |
A |
T |
13: 35,174,312 (GRCm39) |
L83* |
probably null |
Het |
| F7 |
A |
T |
8: 13,083,409 (GRCm39) |
E183V |
probably damaging |
Het |
| Gabrg1 |
T |
C |
5: 70,935,512 (GRCm39) |
K214R |
probably benign |
Het |
| Galr2 |
A |
T |
11: 116,173,996 (GRCm39) |
T209S |
probably damaging |
Het |
| Gimap9 |
T |
C |
6: 48,654,851 (GRCm39) |
|
probably null |
Het |
| Gip |
C |
A |
11: 95,916,285 (GRCm39) |
F28L |
probably benign |
Het |
| Gpd2 |
A |
G |
2: 57,254,542 (GRCm39) |
N662S |
probably benign |
Het |
| Grik2 |
T |
G |
10: 49,149,052 (GRCm39) |
D511A |
probably damaging |
Het |
| Ift122 |
T |
A |
6: 115,876,452 (GRCm39) |
Y563N |
probably damaging |
Het |
| Ipo8 |
A |
G |
6: 148,690,561 (GRCm39) |
|
probably benign |
Het |
| Islr |
T |
C |
9: 58,064,511 (GRCm39) |
E332G |
probably damaging |
Het |
| Itgb7 |
G |
A |
15: 102,136,020 (GRCm39) |
S5L |
probably benign |
Het |
| Itpr2 |
G |
A |
6: 146,246,659 (GRCm39) |
R1087W |
probably damaging |
Het |
| Katnal2 |
C |
A |
18: 77,105,250 (GRCm39) |
V66F |
probably damaging |
Het |
| Krt81 |
T |
C |
15: 101,358,900 (GRCm39) |
D284G |
probably benign |
Het |
| Krtap4-8 |
T |
A |
11: 99,670,831 (GRCm39) |
|
probably benign |
Het |
| Map1s |
C |
A |
8: 71,366,554 (GRCm39) |
N486K |
probably benign |
Het |
| Mef2c |
T |
A |
13: 83,803,714 (GRCm39) |
M306K |
probably damaging |
Het |
| Myb |
C |
T |
10: 21,022,159 (GRCm39) |
V377I |
probably benign |
Het |
| Myocd |
C |
T |
11: 65,075,451 (GRCm39) |
G558R |
possibly damaging |
Het |
| Nars1 |
G |
T |
18: 64,638,039 (GRCm39) |
A305E |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,086,373 (GRCm39) |
N5233K |
probably benign |
Het |
| Nipsnap2 |
T |
C |
5: 129,823,503 (GRCm39) |
I181T |
possibly damaging |
Het |
| Or10d4b |
A |
T |
9: 39,534,661 (GRCm39) |
M81L |
probably benign |
Het |
| Or1s2 |
T |
C |
19: 13,758,937 (GRCm39) |
|
probably benign |
Het |
| P3h2 |
A |
C |
16: 25,805,998 (GRCm39) |
C282G |
probably damaging |
Het |
| Pcgf5 |
T |
A |
19: 36,420,268 (GRCm39) |
C167S |
probably damaging |
Het |
| Pck2 |
T |
C |
14: 55,781,526 (GRCm39) |
|
probably benign |
Het |
| Peli2 |
C |
T |
14: 48,490,187 (GRCm39) |
R169* |
probably null |
Het |
| Pramel16 |
T |
A |
4: 143,676,784 (GRCm39) |
|
probably benign |
Het |
| Psme3ip1 |
G |
A |
8: 95,313,990 (GRCm39) |
R104W |
probably damaging |
Het |
| Ralgapa2 |
T |
A |
2: 146,263,659 (GRCm39) |
Q686L |
possibly damaging |
Het |
| Scap |
C |
A |
9: 110,191,488 (GRCm39) |
P50H |
probably damaging |
Het |
| Sh3rf2 |
T |
A |
18: 42,187,257 (GRCm39) |
D125E |
possibly damaging |
Het |
| Slc25a38 |
T |
C |
9: 119,945,560 (GRCm39) |
|
probably benign |
Het |
| Slc35a5 |
A |
G |
16: 44,964,195 (GRCm39) |
V346A |
probably damaging |
Het |
| Smad4 |
T |
A |
18: 73,808,880 (GRCm39) |
N129I |
probably damaging |
Het |
| Sod2 |
C |
T |
17: 13,232,464 (GRCm39) |
A163V |
possibly damaging |
Het |
| Spred3 |
T |
A |
7: 28,860,948 (GRCm39) |
|
probably benign |
Het |
| Stag1 |
C |
A |
9: 100,737,912 (GRCm39) |
A423E |
possibly damaging |
Het |
| Stk17b |
A |
T |
1: 53,800,196 (GRCm39) |
S261T |
probably benign |
Het |
| Stx3 |
T |
C |
19: 11,769,152 (GRCm39) |
K58E |
probably damaging |
Het |
| Timm10b |
C |
A |
7: 105,290,345 (GRCm39) |
Y79* |
probably null |
Het |
| Tmem204 |
T |
C |
17: 25,289,329 (GRCm39) |
D97G |
probably damaging |
Het |
| Tnfrsf25 |
T |
C |
4: 152,202,885 (GRCm39) |
V181A |
probably benign |
Het |
| Trim54 |
T |
G |
5: 31,294,302 (GRCm39) |
S313A |
probably benign |
Het |
| Unc79 |
T |
A |
12: 103,078,714 (GRCm39) |
D1433E |
probably damaging |
Het |
| Vmn2r23 |
A |
G |
6: 123,706,555 (GRCm39) |
T462A |
probably benign |
Het |
| Wdr27 |
T |
A |
17: 15,146,509 (GRCm39) |
H162L |
probably damaging |
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 |
|
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 |
|
R9045:Med13l
|
UTSW |
5 |
118,880,816 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
| Posted On |
2013-06-28 |
Incidental Mutation