Incidental Mutation 'R0136:Med13l'
| ID |
21943 |
| 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 |
038421-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R0136 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
5 |
| Chromosomal Location |
118698744-118903503 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 118862115 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 353
(T353A)
|
| 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: T353A
PolyPhen 2
Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000098379
Gene: ENSMUSG00000018076
AA Change: T353A
| 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: T353A
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000144092
Gene: ENSMUSG00000018076
AA Change: T353A
| 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: ENSMUST00000201614
|
| Meta Mutation Damage Score |
0.0590 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.3%
|
| Validation Efficiency |
89% (56/63) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap4b1 |
T |
C |
3: 103,717,262 (GRCm39) |
M1T |
probably null |
Het |
| Arg2 |
T |
C |
12: 79,196,780 (GRCm39) |
L167P |
probably damaging |
Het |
| Atxn1 |
A |
G |
13: 45,720,645 (GRCm39) |
S417P |
probably damaging |
Het |
| Baz2b |
A |
G |
2: 59,732,298 (GRCm39) |
V1949A |
probably benign |
Het |
| Bcl3 |
A |
G |
7: 19,543,494 (GRCm39) |
V324A |
probably damaging |
Het |
| Btbd10 |
A |
T |
7: 112,929,085 (GRCm39) |
S230T |
possibly damaging |
Het |
| Camta1 |
A |
G |
4: 151,163,426 (GRCm39) |
S1479P |
probably damaging |
Het |
| Cd69 |
C |
T |
6: 129,247,025 (GRCm39) |
S64N |
probably benign |
Het |
| Col5a1 |
T |
C |
2: 27,914,843 (GRCm39) |
L153P |
probably damaging |
Het |
| Crat |
C |
A |
2: 30,297,042 (GRCm39) |
V304L |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,710,527 (GRCm39) |
T1687A |
probably benign |
Het |
| Dnah1 |
C |
T |
14: 30,998,115 (GRCm39) |
G2574D |
probably damaging |
Het |
| Fau |
T |
C |
19: 6,109,210 (GRCm39) |
V86A |
possibly damaging |
Het |
| Garem1 |
T |
G |
18: 21,263,048 (GRCm39) |
S589R |
probably damaging |
Het |
| Gbp3 |
T |
G |
3: 142,269,862 (GRCm39) |
|
probably null |
Het |
| Gin1 |
T |
A |
1: 97,710,741 (GRCm39) |
S141R |
possibly damaging |
Het |
| Gtf2h1 |
A |
T |
7: 46,464,840 (GRCm39) |
Q419L |
possibly damaging |
Het |
| Hipk3 |
A |
G |
2: 104,269,638 (GRCm39) |
I517T |
probably benign |
Het |
| Hivep2 |
T |
C |
10: 14,007,622 (GRCm39) |
S1407P |
probably benign |
Het |
| Hnrnpk |
G |
T |
13: 58,542,991 (GRCm39) |
D211E |
probably benign |
Het |
| Hnrnpul2 |
T |
C |
19: 8,804,165 (GRCm39) |
L588P |
probably damaging |
Het |
| Il18rap |
A |
T |
1: 40,564,218 (GRCm39) |
H112L |
probably benign |
Het |
| Itgb1 |
T |
G |
8: 129,449,335 (GRCm39) |
Y585D |
possibly damaging |
Het |
| Kmt2d |
C |
T |
15: 98,752,159 (GRCm39) |
|
probably benign |
Het |
| Map7d1 |
A |
T |
4: 126,130,424 (GRCm39) |
|
probably null |
Het |
| Me2 |
A |
G |
18: 73,903,744 (GRCm39) |
S575P |
probably benign |
Het |
| Mgat4b |
T |
C |
11: 50,121,908 (GRCm39) |
V143A |
possibly damaging |
Het |
| Mlxip |
T |
A |
5: 123,580,369 (GRCm39) |
W211R |
probably damaging |
Het |
| Morc2a |
T |
G |
11: 3,635,907 (GRCm39) |
|
probably null |
Het |
| Muc4 |
A |
T |
16: 32,569,013 (GRCm39) |
|
probably benign |
Het |
| Ndufa10 |
A |
T |
1: 92,390,850 (GRCm39) |
Y233* |
probably null |
Het |
| Nek8 |
C |
T |
11: 78,062,033 (GRCm39) |
S237N |
probably benign |
Het |
| Neto1 |
G |
A |
18: 86,479,445 (GRCm39) |
R211Q |
probably benign |
Het |
| Nfatc2ip |
A |
G |
7: 125,990,507 (GRCm39) |
S165P |
probably benign |
Het |
| Nsd2 |
A |
G |
5: 34,012,880 (GRCm39) |
K404E |
possibly damaging |
Het |
| Nsd3 |
G |
T |
8: 26,149,870 (GRCm39) |
E352* |
probably null |
Het |
| Nudt9 |
A |
G |
5: 104,194,972 (GRCm39) |
T23A |
probably benign |
Het |
| Or1e34 |
T |
C |
11: 73,778,611 (GRCm39) |
M196V |
probably benign |
Het |
| Or1e34 |
C |
T |
11: 73,778,656 (GRCm39) |
V181I |
probably benign |
Het |
| Or8b57 |
A |
G |
9: 40,003,315 (GRCm39) |
*312Q |
probably null |
Het |
| Patj |
C |
A |
4: 98,555,885 (GRCm39) |
Q297K |
probably damaging |
Het |
| Pelo |
A |
T |
13: 115,225,439 (GRCm39) |
C40* |
probably null |
Het |
| Pnpla3 |
G |
A |
15: 84,058,679 (GRCm39) |
|
probably null |
Het |
| Pramel1 |
C |
A |
4: 143,124,016 (GRCm39) |
N230K |
probably damaging |
Het |
| Psg20 |
A |
C |
7: 18,416,432 (GRCm39) |
L228R |
probably damaging |
Het |
| Rsph10b |
T |
C |
5: 143,896,639 (GRCm39) |
F44L |
probably benign |
Het |
| Septin2 |
G |
A |
1: 93,434,772 (GRCm39) |
G358R |
possibly damaging |
Het |
| Slamf7 |
G |
A |
1: 171,476,499 (GRCm39) |
|
probably benign |
Het |
| Slc12a8 |
A |
G |
16: 33,428,583 (GRCm39) |
D297G |
probably damaging |
Het |
| Slc17a5 |
G |
A |
9: 78,485,956 (GRCm39) |
A43V |
probably damaging |
Het |
| Slc22a1 |
A |
T |
17: 12,881,483 (GRCm39) |
F335L |
probably benign |
Het |
| Slc26a5 |
T |
C |
5: 22,039,345 (GRCm39) |
N216S |
probably damaging |
Het |
| Snrnp27 |
T |
C |
6: 86,653,187 (GRCm39) |
S144G |
probably benign |
Het |
| Spata20 |
T |
A |
11: 94,371,435 (GRCm39) |
D643V |
probably damaging |
Het |
| Spata24 |
T |
C |
18: 35,793,515 (GRCm39) |
K99R |
probably damaging |
Het |
| Taar5 |
A |
G |
10: 23,847,607 (GRCm39) |
Y335C |
probably damaging |
Het |
| Tpr |
A |
G |
1: 150,306,346 (GRCm39) |
H1540R |
probably benign |
Het |
| Vmn1r27 |
A |
G |
6: 58,192,704 (GRCm39) |
F100S |
possibly damaging |
Het |
| Vmn2r37 |
A |
T |
7: 9,220,782 (GRCm39) |
Y360* |
probably null |
Het |
| Ybx1 |
C |
A |
4: 119,139,551 (GRCm39) |
R36L |
possibly damaging |
Het |
| Zfp369 |
A |
G |
13: 65,445,016 (GRCm39) |
K720E |
probably benign |
Het |
| Zfp599 |
A |
G |
9: 22,161,038 (GRCm39) |
S376P |
probably benign |
Het |
| Zic2 |
A |
G |
14: 122,713,953 (GRCm39) |
E289G |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,712,677 (GRCm39) |
V199A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTGTGGGGAAGATTCTCTCATCC -3'
(R):5'- AGCTGTACTTGTGACTGACTTGCC -3'
Sequencing Primer
(F):5'- AGATTCTCTCATCCCTGTAGATAGTG -3'
(R):5'- GTGACTGACTTGCCCTCTTC -3'
|
| Posted On |
2013-04-12 |
Incidental Mutation