Incidental Mutation 'R7140:Med13l'
ID |
553390 |
Institutional Source |
Beutler Lab
|
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 # |
R7140 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
118698744-118903503 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 118880037 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1043
(V1043A)
|
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: V1043A
PolyPhen 2
Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000098379 Gene: ENSMUSG00000018076 AA Change: V1043A
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: V1043A
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000144092 Gene: ENSMUSG00000018076 AA Change: V1043A
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 |
0.0676 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
99% (70/71) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgra2 |
T |
C |
8: 27,610,929 (GRCm39) |
|
probably null |
Het |
Ap2a2 |
G |
A |
7: 141,178,777 (GRCm39) |
A148T |
probably benign |
Het |
Arhgef3 |
A |
T |
14: 27,123,664 (GRCm39) |
N442Y |
probably damaging |
Het |
B3gat3 |
A |
G |
19: 8,903,216 (GRCm39) |
Y191C |
probably damaging |
Het |
B430306N03Rik |
A |
T |
17: 48,629,483 (GRCm39) |
K203* |
probably null |
Het |
C1qtnf6 |
T |
A |
15: 78,409,283 (GRCm39) |
Y188F |
probably benign |
Het |
Capn10 |
T |
C |
1: 92,872,993 (GRCm39) |
V573A |
possibly damaging |
Het |
Cbx4 |
T |
C |
11: 118,972,754 (GRCm39) |
Y207C |
probably damaging |
Het |
Ccdc43 |
G |
T |
11: 102,579,695 (GRCm39) |
|
probably null |
Het |
Ccng2 |
C |
A |
5: 93,416,614 (GRCm39) |
P45Q |
probably benign |
Het |
Cd86 |
T |
C |
16: 36,441,263 (GRCm39) |
H68R |
probably benign |
Het |
Cmtm4 |
A |
G |
8: 105,081,827 (GRCm39) |
Y187H |
probably damaging |
Het |
Cst11 |
T |
C |
2: 148,610,649 (GRCm39) |
N134S |
probably benign |
Het |
Cyp3a25 |
A |
T |
5: 145,939,855 (GRCm39) |
F51I |
probably benign |
Het |
Dnhd1 |
A |
G |
7: 105,342,973 (GRCm39) |
E1439G |
probably benign |
Het |
Dock4 |
T |
C |
12: 40,686,158 (GRCm39) |
V131A |
probably benign |
Het |
Dpysl2 |
A |
G |
14: 67,099,982 (GRCm39) |
S85P |
probably benign |
Het |
Dync1i2 |
A |
G |
2: 71,078,283 (GRCm39) |
H324R |
probably benign |
Het |
Elf1 |
A |
G |
14: 79,804,710 (GRCm39) |
D162G |
probably benign |
Het |
Eri3 |
G |
A |
4: 117,506,604 (GRCm39) |
|
probably null |
Het |
Fbxl21 |
T |
C |
13: 56,680,145 (GRCm39) |
S203P |
probably damaging |
Het |
Foxi1 |
G |
A |
11: 34,155,758 (GRCm39) |
R291C |
probably damaging |
Het |
Gprin3 |
C |
T |
6: 59,332,128 (GRCm39) |
A60T |
possibly damaging |
Het |
Hecw1 |
A |
G |
13: 14,491,118 (GRCm39) |
C212R |
probably benign |
Het |
Hivep3 |
T |
C |
4: 119,954,318 (GRCm39) |
L878P |
probably damaging |
Het |
Hs6st3 |
A |
T |
14: 119,376,514 (GRCm39) |
N230Y |
probably damaging |
Het |
Htr3b |
A |
G |
9: 48,848,441 (GRCm39) |
V268A |
possibly damaging |
Het |
Ip6k3 |
T |
C |
17: 27,363,969 (GRCm39) |
T360A |
probably damaging |
Het |
Izumo1 |
A |
G |
7: 45,275,536 (GRCm39) |
T282A |
probably benign |
Het |
Kidins220 |
T |
A |
12: 25,086,623 (GRCm39) |
I1019N |
probably damaging |
Het |
Mon2 |
C |
T |
10: 122,871,358 (GRCm39) |
V420I |
probably benign |
Het |
Naip6 |
T |
A |
13: 100,436,708 (GRCm39) |
Y605F |
possibly damaging |
Het |
Nek7 |
A |
G |
1: 138,414,793 (GRCm39) |
I285T |
probably benign |
Het |
Notch3 |
A |
G |
17: 32,375,351 (GRCm39) |
V357A |
possibly damaging |
Het |
Nrxn1 |
G |
A |
17: 91,396,192 (GRCm39) |
|
probably benign |
Het |
Nutm1 |
G |
A |
2: 112,080,401 (GRCm39) |
R505C |
probably damaging |
Het |
Or2w4 |
C |
T |
13: 21,795,297 (GRCm39) |
V281M |
possibly damaging |
Het |
Or4a67 |
G |
A |
2: 88,598,308 (GRCm39) |
A117V |
probably damaging |
Het |
Or5g9 |
T |
A |
2: 85,551,818 (GRCm39) |
L23Q |
probably damaging |
Het |
Or6c74 |
T |
G |
10: 129,870,083 (GRCm39) |
M196R |
possibly damaging |
Het |
Ostm1 |
C |
T |
10: 42,559,268 (GRCm39) |
A176V |
probably null |
Het |
Pabpc6 |
C |
A |
17: 9,887,357 (GRCm39) |
S398I |
possibly damaging |
Het |
Pcdhac2 |
C |
A |
18: 37,277,239 (GRCm39) |
P73H |
possibly damaging |
Het |
Pcdhga9 |
A |
G |
18: 37,872,184 (GRCm39) |
D671G |
possibly damaging |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Pigu |
A |
C |
2: 155,143,160 (GRCm39) |
L248R |
possibly damaging |
Het |
Pinx1 |
C |
A |
14: 64,097,834 (GRCm39) |
|
probably null |
Het |
Pon3 |
T |
C |
6: 5,221,664 (GRCm39) |
N322S |
possibly damaging |
Het |
Pramel23 |
T |
G |
4: 143,425,002 (GRCm39) |
H147P |
probably benign |
Het |
Rnft1 |
A |
G |
11: 86,382,586 (GRCm39) |
I270V |
probably benign |
Het |
Scgb2b11 |
A |
G |
7: 31,910,006 (GRCm39) |
F27L |
probably damaging |
Het |
Slc5a4b |
C |
T |
10: 75,910,943 (GRCm39) |
V298I |
probably damaging |
Het |
Slco1a6 |
T |
A |
6: 142,048,745 (GRCm39) |
H345L |
probably benign |
Het |
Sox1 |
C |
T |
8: 12,447,405 (GRCm39) |
P349S |
possibly damaging |
Het |
Spata31 |
A |
G |
13: 65,068,913 (GRCm39) |
N354D |
probably benign |
Het |
Speg |
T |
C |
1: 75,383,414 (GRCm39) |
|
probably null |
Het |
Stpg1 |
T |
C |
4: 135,261,033 (GRCm39) |
I281T |
probably benign |
Het |
Sult3a1 |
T |
C |
10: 33,753,283 (GRCm39) |
L193P |
probably damaging |
Het |
Tenm3 |
A |
T |
8: 48,745,271 (GRCm39) |
C1097S |
probably damaging |
Het |
Tfap2a |
A |
G |
13: 40,883,523 (GRCm39) |
S7P |
probably benign |
Het |
Tlr1 |
T |
C |
5: 65,083,021 (GRCm39) |
I519V |
probably benign |
Het |
Tmem238 |
A |
G |
7: 4,792,072 (GRCm39) |
V157A |
possibly damaging |
Het |
Tmem45b |
A |
T |
9: 31,345,780 (GRCm39) |
|
probably null |
Het |
Togaram2 |
A |
T |
17: 72,021,761 (GRCm39) |
H742L |
probably benign |
Het |
Trpc7 |
A |
T |
13: 56,937,487 (GRCm39) |
Y656* |
probably null |
Het |
Wdr35 |
T |
A |
12: 9,072,785 (GRCm39) |
Y920N |
probably damaging |
Het |
Xab2 |
G |
A |
8: 3,668,117 (GRCm39) |
R154C |
possibly damaging |
Het |
Zfp759 |
A |
T |
13: 67,288,177 (GRCm39) |
H576L |
possibly damaging |
Het |
Zfp958 |
G |
T |
8: 4,678,481 (GRCm39) |
A169S |
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 |
R7136:Med13l
|
UTSW |
5 |
118,859,587 (GRCm39) |
missense |
possibly damaging |
0.90 |
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'- TATTCAGTGCAGGGCTATGG -3'
(R):5'- TCAGGAATTGGCTGCATGG -3'
Sequencing Primer
(F):5'- TGCAGGGAGCTTCTGTACACTC -3'
(R):5'- TGCATGGTGGCAGGCTC -3'
|
Posted On |
2019-05-15 |