Incidental Mutation 'R0158:Med13l'
ID |
22970 |
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 |
038438-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.966)
|
Stock # |
R0158 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
5 |
Chromosomal Location |
118698744-118903503 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 118880514 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Tyrosine
at position 1202
(S1202Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144092
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100816]
[ENSMUST00000201010]
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000100816
AA Change: S1202Y
|
SMART Domains |
Protein: ENSMUSP00000098379 Gene: ENSMUSG00000018076 AA Change: S1202Y
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 |
unknown
Transcript: ENSMUST00000201010
AA Change: S1202Y
|
SMART Domains |
Protein: ENSMUSP00000144092 Gene: ENSMUSG00000018076 AA Change: S1202Y
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202538
|
Meta Mutation Damage Score |
0.0869 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.3%
- 20x: 89.1%
|
Validation Efficiency |
93% (79/85) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf3 |
C |
T |
16: 20,371,316 (GRCm39) |
R437C |
probably damaging |
Het |
Abhd3 |
A |
G |
18: 10,647,840 (GRCm39) |
Y315H |
possibly damaging |
Het |
Adam19 |
C |
T |
11: 46,033,861 (GRCm39) |
P891L |
probably damaging |
Het |
Ampd1 |
T |
A |
3: 102,999,046 (GRCm39) |
Y400* |
probably null |
Het |
Ap1g1 |
T |
C |
8: 110,582,267 (GRCm39) |
S724P |
probably benign |
Het |
Bst2 |
T |
A |
8: 71,989,861 (GRCm39) |
T71S |
possibly damaging |
Het |
C3 |
A |
G |
17: 57,531,851 (GRCm39) |
|
probably null |
Het |
Cacna2d1 |
C |
A |
5: 16,566,815 (GRCm39) |
|
probably benign |
Het |
Cacna2d4 |
C |
T |
6: 119,213,709 (GRCm39) |
H43Y |
possibly damaging |
Het |
Ccdc71 |
T |
G |
9: 108,341,336 (GRCm39) |
V383G |
probably benign |
Het |
Cd109 |
A |
T |
9: 78,596,214 (GRCm39) |
Q849L |
possibly damaging |
Het |
Cdkn2a |
A |
T |
4: 89,195,004 (GRCm39) |
H115Q |
possibly damaging |
Het |
Ces1e |
T |
C |
8: 93,946,057 (GRCm39) |
E161G |
probably benign |
Het |
Cggbp1 |
C |
T |
16: 64,676,201 (GRCm39) |
S89L |
possibly damaging |
Het |
Crocc |
A |
T |
4: 140,769,553 (GRCm39) |
|
probably benign |
Het |
Cspg4b |
T |
A |
13: 113,505,687 (GRCm39) |
L2272* |
probably null |
Het |
Eef1akmt3 |
G |
A |
10: 126,869,142 (GRCm39) |
Q111* |
probably null |
Het |
Exoc7 |
T |
C |
11: 116,186,118 (GRCm39) |
N361S |
probably benign |
Het |
Fat2 |
G |
T |
11: 55,187,011 (GRCm39) |
S1278R |
probably benign |
Het |
Fbxo42 |
A |
G |
4: 140,927,640 (GRCm39) |
N640S |
probably benign |
Het |
Fbxw25 |
A |
G |
9: 109,483,720 (GRCm39) |
V164A |
possibly damaging |
Het |
Fcgbpl1 |
A |
G |
7: 27,854,917 (GRCm39) |
I1848V |
probably damaging |
Het |
Foxs1 |
T |
C |
2: 152,774,330 (GRCm39) |
E241G |
probably damaging |
Het |
Fras1 |
A |
T |
5: 96,924,493 (GRCm39) |
I3645F |
possibly damaging |
Het |
Gm14496 |
T |
A |
2: 181,639,206 (GRCm39) |
V432E |
probably benign |
Het |
H3c2 |
T |
A |
13: 23,936,693 (GRCm39) |
C111S |
probably damaging |
Het |
Herc1 |
T |
A |
9: 66,403,203 (GRCm39) |
L4374* |
probably null |
Het |
Ift122 |
T |
C |
6: 115,901,445 (GRCm39) |
|
probably benign |
Het |
Itgav |
C |
A |
2: 83,622,381 (GRCm39) |
N654K |
probably benign |
Het |
Itih5 |
T |
C |
2: 10,239,803 (GRCm39) |
|
probably benign |
Het |
Jak2 |
C |
A |
19: 29,289,157 (GRCm39) |
T1103K |
probably benign |
Het |
Kcnc4 |
C |
A |
3: 107,365,920 (GRCm39) |
C96F |
probably benign |
Het |
Mefv |
T |
C |
16: 3,533,320 (GRCm39) |
E317G |
possibly damaging |
Het |
Ncoa2 |
T |
C |
1: 13,222,608 (GRCm39) |
T1226A |
probably benign |
Het |
Nktr |
C |
T |
9: 121,579,757 (GRCm39) |
|
probably benign |
Het |
Nudt5 |
G |
A |
2: 5,867,114 (GRCm39) |
V61M |
probably damaging |
Het |
Or51a39 |
C |
T |
7: 102,363,162 (GRCm39) |
A153T |
probably benign |
Het |
Pakap |
A |
G |
4: 57,709,649 (GRCm39) |
D198G |
possibly damaging |
Het |
Pcdhb2 |
A |
C |
18: 37,430,283 (GRCm39) |
Y752S |
probably damaging |
Het |
Pcnx4 |
A |
G |
12: 72,603,076 (GRCm39) |
D446G |
probably benign |
Het |
Pnp2 |
G |
A |
14: 51,201,761 (GRCm39) |
R249H |
probably damaging |
Het |
Rgs3 |
A |
T |
4: 62,542,121 (GRCm39) |
I32F |
probably damaging |
Het |
Rnf139 |
A |
G |
15: 58,770,727 (GRCm39) |
T251A |
probably benign |
Het |
Rnf41 |
A |
G |
10: 128,274,104 (GRCm39) |
E252G |
probably damaging |
Het |
Rxfp2 |
T |
A |
5: 149,975,093 (GRCm39) |
F220Y |
probably benign |
Het |
Sdcbp |
A |
G |
4: 6,379,042 (GRCm39) |
D43G |
possibly damaging |
Het |
Serpina3f |
A |
G |
12: 104,183,267 (GRCm39) |
D43G |
probably damaging |
Het |
Sftpc |
T |
C |
14: 70,758,887 (GRCm39) |
K154R |
probably null |
Het |
Simc1 |
A |
G |
13: 54,672,530 (GRCm39) |
T293A |
probably benign |
Het |
Skint6 |
A |
T |
4: 113,042,011 (GRCm39) |
|
probably benign |
Het |
Slc6a15 |
T |
C |
10: 103,225,208 (GRCm39) |
|
probably benign |
Het |
Spata31e2 |
T |
G |
1: 26,723,032 (GRCm39) |
H716P |
probably damaging |
Het |
Ston2 |
A |
T |
12: 91,707,376 (GRCm39) |
I78N |
probably damaging |
Het |
Taok3 |
T |
C |
5: 117,355,307 (GRCm39) |
|
probably null |
Het |
Tent4b |
G |
A |
8: 88,977,371 (GRCm39) |
G391D |
probably damaging |
Het |
Tiam1 |
C |
T |
16: 89,589,889 (GRCm39) |
|
probably benign |
Het |
Tnfsf15 |
T |
C |
4: 63,648,229 (GRCm39) |
H137R |
possibly damaging |
Het |
Tpte |
G |
A |
8: 22,817,755 (GRCm39) |
R247H |
possibly damaging |
Het |
Trim2 |
T |
C |
3: 84,117,476 (GRCm39) |
|
probably benign |
Het |
Ulk1 |
A |
T |
5: 110,936,810 (GRCm39) |
|
probably benign |
Het |
Utp4 |
T |
G |
8: 107,640,018 (GRCm39) |
H442Q |
probably null |
Het |
Vmn1r193 |
T |
A |
13: 22,403,798 (GRCm39) |
I65F |
probably damaging |
Het |
Vps54 |
A |
T |
11: 21,256,962 (GRCm39) |
Q690L |
probably damaging |
Het |
Ybx2 |
T |
C |
11: 69,831,145 (GRCm39) |
|
probably benign |
Het |
Zbtb38 |
C |
T |
9: 96,568,993 (GRCm39) |
G697D |
possibly damaging |
Het |
Zfp202 |
C |
T |
9: 40,120,212 (GRCm39) |
Q218* |
probably null |
Het |
Zfp820 |
G |
A |
17: 22,038,800 (GRCm39) |
T176I |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGCCTGCAACATGAACATCAAAG -3'
(R):5'- TGCACACGGTCATAAGTCCAGCTC -3'
Sequencing Primer
(F):5'- AGATGTCGGGCTGTACATCC -3'
(R):5'- TAAGTCCAGCTCACACAGGG -3'
|
Posted On |
2013-04-16 |