Incidental Mutation 'R7096:Med13l'
ID |
550477 |
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 |
045188-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.968)
|
Stock # |
R7096 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
118698744-118903503 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 118859991 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 328
(Q328K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098379
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100816]
[ENSMUST00000201010]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100816
AA Change: Q328K
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000098379 Gene: ENSMUSG00000018076 AA Change: Q328K
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: Q328K
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000144092 Gene: ENSMUSG00000018076 AA Change: Q328K
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 |
|
Meta Mutation Damage Score |
0.0897 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
97% (68/70) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd18 |
T |
G |
3: 40,888,305 (GRCm39) |
M383R |
probably damaging |
Het |
Acd |
T |
A |
8: 106,425,121 (GRCm39) |
E366V |
possibly damaging |
Het |
Acvr2b |
T |
A |
9: 119,257,255 (GRCm39) |
|
probably null |
Het |
Alg10b |
C |
T |
15: 90,111,564 (GRCm39) |
T136I |
probably benign |
Het |
Ankrd42 |
T |
A |
7: 92,241,040 (GRCm39) |
K440* |
probably null |
Het |
Apc |
T |
A |
18: 34,449,010 (GRCm39) |
S1969T |
probably damaging |
Het |
Arhgef25 |
T |
C |
10: 127,019,897 (GRCm39) |
Y447C |
probably damaging |
Het |
AW146154 |
G |
A |
7: 41,130,867 (GRCm39) |
A83V |
probably benign |
Het |
Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
Barhl1 |
T |
G |
2: 28,799,726 (GRCm39) |
I300L |
probably benign |
Het |
Brd1 |
C |
A |
15: 88,598,138 (GRCm39) |
R536L |
probably damaging |
Het |
Brms1 |
T |
A |
19: 5,096,708 (GRCm39) |
I130N |
probably damaging |
Het |
Ccdc68 |
A |
G |
18: 70,073,241 (GRCm39) |
H63R |
probably damaging |
Het |
Ccl28 |
A |
G |
13: 120,112,429 (GRCm39) |
I74V |
probably benign |
Het |
Cd300ld |
T |
A |
11: 114,878,321 (GRCm39) |
I64F |
possibly damaging |
Het |
Cdkl2 |
G |
A |
5: 92,181,043 (GRCm39) |
Q199* |
probably null |
Het |
Cdkn2c |
C |
T |
4: 109,518,555 (GRCm39) |
R133Q |
probably benign |
Het |
Coq2 |
A |
G |
5: 100,811,586 (GRCm39) |
|
probably benign |
Het |
Coq6 |
T |
C |
12: 84,408,595 (GRCm39) |
|
probably null |
Het |
Csmd2 |
C |
T |
4: 128,356,519 (GRCm39) |
S1608L |
|
Het |
Cyp11b2 |
T |
A |
15: 74,727,837 (GRCm39) |
R82W |
probably damaging |
Het |
Cyp2d10 |
T |
C |
15: 82,289,462 (GRCm39) |
T217A |
probably benign |
Het |
Dclk2 |
C |
T |
3: 86,700,566 (GRCm39) |
R638H |
probably damaging |
Het |
Dnah7a |
T |
C |
1: 53,522,599 (GRCm39) |
I2880V |
possibly damaging |
Het |
Dync1h1 |
C |
A |
12: 110,623,512 (GRCm39) |
T3595K |
probably damaging |
Het |
Ecscr |
T |
A |
18: 35,848,478 (GRCm39) |
E183V |
probably damaging |
Het |
Elovl6 |
A |
G |
3: 129,398,755 (GRCm39) |
N52S |
probably benign |
Het |
Eps8l1 |
G |
T |
7: 4,477,190 (GRCm39) |
A455S |
probably benign |
Het |
Gpat2 |
A |
G |
2: 127,270,209 (GRCm39) |
N74S |
probably benign |
Het |
Gstk1 |
C |
A |
6: 42,226,407 (GRCm39) |
T172K |
probably damaging |
Het |
Gtf3c1 |
T |
C |
7: 125,295,731 (GRCm39) |
|
probably null |
Het |
Gucy2c |
T |
C |
6: 136,705,339 (GRCm39) |
D532G |
probably benign |
Het |
Hoxc12 |
T |
A |
15: 102,845,473 (GRCm39) |
N62K |
possibly damaging |
Het |
Hsdl1 |
C |
A |
8: 120,293,064 (GRCm39) |
A124S |
possibly damaging |
Het |
Il11 |
T |
C |
7: 4,778,995 (GRCm39) |
Y45C |
probably damaging |
Het |
Lcat |
C |
T |
8: 106,666,309 (GRCm39) |
M404I |
possibly damaging |
Het |
Ldhb |
A |
G |
6: 142,447,099 (GRCm39) |
F72L |
probably benign |
Het |
Map10 |
T |
C |
8: 126,398,662 (GRCm39) |
L685P |
probably damaging |
Het |
Me2 |
A |
G |
18: 73,927,961 (GRCm39) |
V174A |
probably benign |
Het |
Mta2 |
A |
T |
19: 8,925,139 (GRCm39) |
I336F |
probably damaging |
Het |
Mterf1a |
A |
T |
5: 3,941,769 (GRCm39) |
I33N |
probably damaging |
Het |
Myo15b |
T |
A |
11: 115,782,324 (GRCm39) |
|
probably null |
Het |
Myof |
C |
A |
19: 37,924,648 (GRCm39) |
G1215V |
probably damaging |
Het |
Nlgn2 |
G |
A |
11: 69,716,516 (GRCm39) |
T675M |
probably damaging |
Het |
Or1e26 |
T |
A |
11: 73,480,463 (GRCm39) |
M34L |
probably benign |
Het |
Or5p61 |
C |
A |
7: 107,758,848 (GRCm39) |
M77I |
probably benign |
Het |
Or6c38 |
T |
C |
10: 128,929,715 (GRCm39) |
I43V |
probably damaging |
Het |
Padi3 |
T |
C |
4: 140,527,435 (GRCm39) |
D122G |
probably damaging |
Het |
Pcnx3 |
G |
A |
19: 5,722,643 (GRCm39) |
R1350C |
probably damaging |
Het |
Pdzrn4 |
C |
A |
15: 92,295,384 (GRCm39) |
Q197K |
probably benign |
Het |
Pitpnm2 |
C |
T |
5: 124,267,324 (GRCm39) |
G639S |
possibly damaging |
Het |
Piwil4 |
T |
A |
9: 14,648,112 (GRCm39) |
K156* |
probably null |
Het |
Pkmyt1 |
T |
A |
17: 23,953,087 (GRCm39) |
H214Q |
probably damaging |
Het |
Pnpt1 |
G |
A |
11: 29,104,867 (GRCm39) |
R597Q |
probably benign |
Het |
Poteg |
C |
A |
8: 27,963,595 (GRCm39) |
A344E |
probably benign |
Het |
Rad21l |
A |
G |
2: 151,509,840 (GRCm39) |
M87T |
probably benign |
Het |
Ranbp17 |
T |
C |
11: 33,424,896 (GRCm39) |
I487V |
probably benign |
Het |
Rap1gap2 |
C |
A |
11: 74,283,057 (GRCm39) |
R681L |
probably damaging |
Het |
Rimbp2 |
C |
A |
5: 128,851,333 (GRCm39) |
R871L |
probably damaging |
Het |
Rnf135 |
T |
C |
11: 80,080,051 (GRCm39) |
V114A |
probably benign |
Het |
Skic2 |
T |
A |
17: 35,060,446 (GRCm39) |
H849L |
probably benign |
Het |
Snai2 |
A |
G |
16: 14,525,028 (GRCm39) |
H178R |
possibly damaging |
Het |
Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
Taar1 |
A |
T |
10: 23,796,809 (GRCm39) |
E169V |
possibly damaging |
Het |
Tdrd12 |
G |
T |
7: 35,187,014 (GRCm39) |
D625E |
|
Het |
Tlr6 |
A |
G |
5: 65,111,119 (GRCm39) |
V596A |
probably benign |
Het |
Trak2 |
T |
G |
1: 58,942,749 (GRCm39) |
N886H |
probably damaging |
Het |
Tsga10 |
T |
A |
1: 37,879,695 (GRCm39) |
D32V |
probably damaging |
Het |
Vmn1r214 |
A |
G |
13: 23,219,196 (GRCm39) |
D230G |
probably damaging |
Het |
Vmn2r108 |
A |
G |
17: 20,682,762 (GRCm39) |
L814S |
probably damaging |
Het |
Zbbx |
T |
C |
3: 74,989,044 (GRCm39) |
D353G |
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 |
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'- TCATCTCTCCTCACAGGTGG -3'
(R):5'- CATGGACATGACGTGTGACAG -3'
Sequencing Primer
(F):5'- TGGCGTCCGGATGGTCTAC -3'
(R):5'- CATGACGTGTGACAGGGTAATTG -3'
|
Posted On |
2019-05-15 |