Incidental Mutation 'R8081:Med13l'
| ID |
629329 |
| 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 |
067514-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R8081 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
118698744-118903503 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 118866333 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 462
(H462Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098379
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100816]
[ENSMUST00000201010]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100816
AA Change: H462Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098379
Gene: ENSMUSG00000018076
AA Change: H462Q
| 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: H462Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144092
Gene: ENSMUSG00000018076
AA Change: H462Q
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.9%
- 20x: 95.7%
|
| Validation Efficiency |
|
| 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 |
|---|
| 1700003E16Rik |
A |
T |
6: 83,138,313 (GRCm39) |
E119V |
probably damaging |
Het |
| Adamts2 |
A |
T |
11: 50,668,004 (GRCm39) |
D522V |
probably damaging |
Het |
| Agtpbp1 |
A |
T |
13: 59,676,221 (GRCm39) |
L183* |
probably null |
Het |
| Arhgap10 |
T |
C |
8: 78,109,375 (GRCm39) |
I403V |
possibly damaging |
Het |
| Arhgef11 |
T |
C |
3: 87,632,949 (GRCm39) |
S687P |
probably damaging |
Het |
| Cdhr1 |
C |
T |
14: 36,815,967 (GRCm39) |
V144I |
probably benign |
Het |
| Cdk20 |
A |
G |
13: 64,586,766 (GRCm39) |
I339V |
probably benign |
Het |
| Ceacam13 |
A |
G |
7: 17,747,113 (GRCm39) |
K189E |
probably damaging |
Het |
| Cep290 |
C |
T |
10: 100,394,038 (GRCm39) |
Q2082* |
probably null |
Het |
| Cgrrf1 |
A |
G |
14: 47,091,468 (GRCm39) |
T331A |
probably benign |
Het |
| Cntn4 |
G |
A |
6: 106,651,568 (GRCm39) |
V706I |
possibly damaging |
Het |
| Csrnp2 |
T |
C |
15: 100,387,462 (GRCm39) |
D2G |
probably damaging |
Het |
| Cux2 |
A |
G |
5: 122,007,519 (GRCm39) |
I714T |
probably benign |
Het |
| Cx3cr1 |
C |
T |
9: 119,880,878 (GRCm39) |
E175K |
possibly damaging |
Het |
| Dennd1c |
G |
A |
17: 57,381,139 (GRCm39) |
P163L |
possibly damaging |
Het |
| Dhtkd1 |
C |
T |
2: 5,928,919 (GRCm39) |
E251K |
probably damaging |
Het |
| Epas1 |
C |
T |
17: 87,136,797 (GRCm39) |
P787S |
probably benign |
Het |
| Epha2 |
T |
C |
4: 141,049,605 (GRCm39) |
V737A |
probably damaging |
Het |
| Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
| Fcsk |
T |
A |
8: 111,615,783 (GRCm39) |
R515S |
probably benign |
Het |
| Fscb |
A |
T |
12: 64,518,802 (GRCm39) |
M888K |
unknown |
Het |
| Gldc |
ACGACC |
AC |
19: 30,135,987 (GRCm39) |
|
probably null |
Het |
| Gm14443 |
A |
T |
2: 175,012,238 (GRCm39) |
C69* |
probably null |
Het |
| Gm19668 |
G |
A |
10: 77,634,420 (GRCm39) |
A183V |
unknown |
Het |
| Gm49368 |
A |
G |
7: 127,726,280 (GRCm39) |
R1231G |
unknown |
Het |
| Grin2c |
T |
C |
11: 115,140,719 (GRCm39) |
Y1133C |
probably damaging |
Het |
| H3c13 |
C |
A |
3: 96,176,309 (GRCm39) |
Y100* |
probably null |
Het |
| Hydin |
T |
C |
8: 111,092,101 (GRCm39) |
S425P |
possibly damaging |
Het |
| Ifnl3 |
T |
C |
7: 28,223,682 (GRCm39) |
S173P |
probably damaging |
Het |
| Igkv4-63 |
A |
T |
6: 69,355,018 (GRCm39) |
S88T |
possibly damaging |
Het |
| Klhl5 |
C |
A |
5: 65,320,268 (GRCm39) |
N607K |
possibly damaging |
Het |
| Lag3 |
A |
T |
6: 124,882,410 (GRCm39) |
L362* |
probably null |
Het |
| Lats2 |
C |
A |
14: 57,937,968 (GRCm39) |
G174C |
probably damaging |
Het |
| Mcm6 |
T |
C |
1: 128,265,905 (GRCm39) |
E622G |
probably damaging |
Het |
| Mrpl53 |
T |
A |
6: 83,086,159 (GRCm39) |
F23I |
probably damaging |
Het |
| Muc5b |
T |
G |
7: 141,417,743 (GRCm39) |
I3563S |
possibly damaging |
Het |
| Myo16 |
A |
C |
8: 10,372,743 (GRCm39) |
L147F |
unknown |
Het |
| Npc1l1 |
G |
C |
11: 6,167,768 (GRCm39) |
Q1008E |
probably benign |
Het |
| Npy4r |
A |
G |
14: 33,868,524 (GRCm39) |
S255P |
probably damaging |
Het |
| Nup210 |
T |
C |
6: 91,053,657 (GRCm39) |
N287D |
probably benign |
Het |
| Opn3 |
T |
A |
1: 175,493,135 (GRCm39) |
H143L |
probably damaging |
Het |
| Or12e7 |
G |
T |
2: 87,287,513 (GRCm39) |
M1I |
probably null |
Het |
| Or12j3 |
A |
T |
7: 139,952,972 (GRCm39) |
L184M |
probably damaging |
Het |
| Or12j5 |
A |
T |
7: 140,084,369 (GRCm39) |
M1K |
probably null |
Het |
| Or4k2 |
T |
A |
14: 50,423,825 (GRCm39) |
N284I |
probably damaging |
Het |
| Or5ap2b-ps1 |
C |
T |
2: 85,693,839 (GRCm39) |
P28L |
probably damaging |
Het |
| Pdcd7 |
C |
T |
9: 65,253,967 (GRCm39) |
R182C |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Picalm |
T |
A |
7: 89,840,451 (GRCm39) |
L540* |
probably null |
Het |
| Ppp1r21 |
T |
A |
17: 88,866,272 (GRCm39) |
I356N |
probably damaging |
Het |
| Rgs6 |
C |
T |
12: 83,094,347 (GRCm39) |
Q67* |
probably null |
Het |
| Ripor2 |
C |
A |
13: 24,897,683 (GRCm39) |
Q794K |
probably benign |
Het |
| Rnf216 |
A |
T |
5: 143,013,719 (GRCm39) |
I702N |
probably damaging |
Het |
| Robo4 |
T |
C |
9: 37,316,936 (GRCm39) |
L417P |
probably damaging |
Het |
| Samhd1 |
A |
T |
2: 156,943,358 (GRCm39) |
C605* |
probably null |
Het |
| Scaper |
C |
T |
9: 55,823,330 (GRCm39) |
G22D |
unknown |
Het |
| Senp5 |
T |
C |
16: 31,784,577 (GRCm39) |
T692A |
probably damaging |
Het |
| Six6 |
G |
T |
12: 72,986,875 (GRCm39) |
G16W |
probably damaging |
Het |
| Slc38a8 |
A |
T |
8: 120,212,269 (GRCm39) |
M358K |
possibly damaging |
Het |
| Snx2 |
T |
C |
18: 53,349,459 (GRCm39) |
F407L |
probably benign |
Het |
| Srrm2 |
T |
A |
17: 24,039,219 (GRCm39) |
N1954K |
probably damaging |
Het |
| Syk |
A |
T |
13: 52,792,195 (GRCm39) |
M429L |
probably benign |
Het |
| Tln2 |
T |
A |
9: 67,264,029 (GRCm39) |
N537Y |
probably damaging |
Het |
| Usp29 |
T |
A |
7: 6,966,629 (GRCm39) |
M824K |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,423,803 (GRCm39) |
|
probably benign |
Het |
| Wdr37 |
C |
T |
13: 8,885,406 (GRCm39) |
D346N |
probably damaging |
Het |
| Zfpm2 |
T |
A |
15: 40,965,644 (GRCm39) |
C710S |
probably damaging |
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 |
|
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 |
|
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'- CGCTTGCTATGTGATGTCAC -3'
(R):5'- TTGTATTTCTGGAAGGCACGGC -3'
Sequencing Primer
(F):5'- GATGTCACAGTCCCGCCATTATC -3'
(R):5'- GCACGGCCATTTGCTTATCATAC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation