Incidental Mutation 'R7136:Med13l'
ID |
553059 |
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 |
045220-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.968)
|
Stock # |
R7136 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
118698744-118903503 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 118859587 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 258
(E258G)
|
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: E258G
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000098379 Gene: ENSMUSG00000018076 AA Change: E258G
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: E258G
PolyPhen 2
Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000144092 Gene: ENSMUSG00000018076 AA Change: E258G
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 |
0.1230 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (68/68) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700123K08Rik |
A |
G |
5: 138,560,610 (GRCm39) |
S262P |
probably damaging |
Het |
Abcc2 |
A |
G |
19: 43,825,899 (GRCm39) |
E1512G |
probably damaging |
Het |
Abcg2 |
T |
G |
6: 58,661,325 (GRCm39) |
Y459D |
possibly damaging |
Het |
Amy1 |
T |
C |
3: 113,357,248 (GRCm39) |
Y197C |
probably damaging |
Het |
Bptf |
A |
G |
11: 106,990,541 (GRCm39) |
I516T |
probably damaging |
Het |
Capn12 |
T |
A |
7: 28,582,532 (GRCm39) |
|
probably null |
Het |
Cbln2 |
T |
A |
18: 86,734,797 (GRCm39) |
L190Q |
probably damaging |
Het |
Ccdc157 |
C |
T |
11: 4,098,592 (GRCm39) |
E305K |
possibly damaging |
Het |
Ccdc47 |
A |
G |
11: 106,095,830 (GRCm39) |
S289P |
probably benign |
Het |
Chd3 |
C |
T |
11: 69,239,264 (GRCm39) |
E1756K |
probably null |
Het |
Chrd |
G |
T |
16: 20,553,272 (GRCm39) |
A183S |
possibly damaging |
Het |
Cp |
C |
T |
3: 20,039,822 (GRCm39) |
R880* |
probably null |
Het |
Cyp24a1 |
A |
T |
2: 170,336,063 (GRCm39) |
D191E |
probably benign |
Het |
Dnah1 |
T |
C |
14: 31,020,613 (GRCm39) |
Y1252C |
probably damaging |
Het |
Eps8l1 |
A |
G |
7: 4,480,403 (GRCm39) |
D487G |
probably damaging |
Het |
Fam227b |
T |
G |
2: 125,965,948 (GRCm39) |
Q159P |
probably damaging |
Het |
Fat3 |
A |
G |
9: 16,289,481 (GRCm39) |
I14T |
probably benign |
Het |
Fbxl19 |
C |
A |
7: 127,349,217 (GRCm39) |
T129N |
possibly damaging |
Het |
Fuca2 |
T |
C |
10: 13,381,665 (GRCm39) |
F193L |
probably benign |
Het |
H2-Q1 |
T |
C |
17: 35,539,603 (GRCm39) |
|
probably null |
Het |
Hgh1 |
A |
G |
15: 76,254,631 (GRCm39) |
M336V |
probably benign |
Het |
Il12b |
T |
C |
11: 44,298,857 (GRCm39) |
L104P |
probably benign |
Het |
Kcnh2 |
A |
T |
5: 24,537,989 (GRCm39) |
F125I |
probably benign |
Het |
Kcnk7 |
A |
G |
19: 5,756,104 (GRCm39) |
H110R |
probably benign |
Het |
Kdm3a |
G |
A |
6: 71,588,764 (GRCm39) |
P415L |
probably benign |
Het |
Kifc3 |
T |
C |
8: 95,830,077 (GRCm39) |
T610A |
probably benign |
Het |
Krbox5 |
A |
G |
13: 67,991,111 (GRCm39) |
|
probably null |
Het |
Lmbr1l |
C |
A |
15: 98,809,372 (GRCm39) |
|
probably null |
Het |
Lmo7 |
T |
A |
14: 102,157,975 (GRCm39) |
M1436K |
unknown |
Het |
Lrp1 |
C |
T |
10: 127,394,491 (GRCm39) |
C2574Y |
probably damaging |
Het |
Mesp1 |
T |
C |
7: 79,442,906 (GRCm39) |
I124V |
probably damaging |
Het |
Mrgpra2a |
A |
T |
7: 47,076,934 (GRCm39) |
I108N |
probably benign |
Het |
Nos1 |
G |
T |
5: 118,033,925 (GRCm39) |
R349L |
possibly damaging |
Het |
Or5k3 |
C |
T |
16: 58,969,327 (GRCm39) |
T38I |
probably damaging |
Het |
Or7c70 |
T |
C |
10: 78,683,615 (GRCm39) |
I45V |
probably benign |
Het |
Osgin1 |
T |
A |
8: 120,168,176 (GRCm39) |
M1K |
probably null |
Het |
Pde4dip |
C |
T |
3: 97,601,379 (GRCm39) |
S2346N |
probably benign |
Het |
Pde7a |
T |
C |
3: 19,285,258 (GRCm39) |
M310V |
probably benign |
Het |
Pigw |
G |
A |
11: 84,768,585 (GRCm39) |
T248M |
probably damaging |
Het |
Pink1 |
T |
C |
4: 138,044,769 (GRCm39) |
T323A |
probably damaging |
Het |
Polr3a |
C |
T |
14: 24,511,883 (GRCm39) |
R891Q |
probably damaging |
Het |
Prkar1b |
C |
A |
5: 139,094,363 (GRCm39) |
C75F |
probably benign |
Het |
Prss58 |
C |
T |
6: 40,876,987 (GRCm39) |
|
probably null |
Het |
Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
Pttg1ip2 |
A |
T |
5: 5,516,631 (GRCm39) |
D63E |
possibly damaging |
Het |
Qars1 |
T |
C |
9: 108,389,971 (GRCm39) |
I350T |
probably damaging |
Het |
Qprt |
T |
C |
7: 126,707,984 (GRCm39) |
K149R |
probably damaging |
Het |
Rasgrf1 |
T |
A |
9: 89,873,651 (GRCm39) |
D653E |
probably damaging |
Het |
Rbm26 |
T |
C |
14: 105,381,703 (GRCm39) |
M481V |
possibly damaging |
Het |
Rdx |
C |
T |
9: 51,997,745 (GRCm39) |
T573M |
probably damaging |
Het |
Rgs14 |
A |
G |
13: 55,527,508 (GRCm39) |
|
probably null |
Het |
Robo2 |
T |
C |
16: 73,753,438 (GRCm39) |
E813G |
probably damaging |
Het |
Rrbp1 |
A |
T |
2: 143,791,600 (GRCm39) |
F1369I |
probably benign |
Het |
Sh2d4b |
T |
A |
14: 40,562,209 (GRCm39) |
T319S |
probably benign |
Het |
Slc7a15 |
G |
T |
12: 8,588,895 (GRCm39) |
N217K |
probably damaging |
Het |
Stmn1 |
A |
G |
4: 134,198,088 (GRCm39) |
K42E |
probably damaging |
Het |
Tbl2 |
T |
G |
5: 135,178,682 (GRCm39) |
W31G |
probably benign |
Het |
Tmem8b |
T |
C |
4: 43,669,845 (GRCm39) |
C114R |
possibly damaging |
Het |
Tsc2 |
T |
C |
17: 24,832,254 (GRCm39) |
S711G |
probably benign |
Het |
Ttn |
T |
C |
2: 76,666,904 (GRCm39) |
R11531G |
unknown |
Het |
Ube2e3 |
T |
C |
2: 78,744,085 (GRCm39) |
Y105H |
probably benign |
Het |
Usp16 |
G |
T |
16: 87,280,059 (GRCm39) |
C753F |
probably benign |
Het |
Vmn1r13 |
T |
C |
6: 57,187,239 (GRCm39) |
S133P |
possibly damaging |
Het |
Vmn2r76 |
T |
A |
7: 85,877,975 (GRCm39) |
Q474L |
probably benign |
Het |
Vps52 |
T |
C |
17: 34,184,262 (GRCm39) |
I601T |
probably benign |
Het |
Wasf1 |
A |
T |
10: 40,802,587 (GRCm39) |
T81S |
possibly damaging |
Het |
Wdr82 |
A |
G |
9: 106,048,532 (GRCm39) |
S39G |
probably benign |
Het |
Zdhhc13 |
A |
G |
7: 48,451,080 (GRCm39) |
I108V |
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 |
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'- AAGGGCATGAAGTGTAGTGCTC -3'
(R):5'- ACTGACTCAGTGAGCAGGTC -3'
Sequencing Primer
(F):5'- GAAGTGTAGTGCTCTCTTTTAACC -3'
(R):5'- TCACACAGAGAAGAGGAAGTCC -3'
|
Posted On |
2019-05-15 |