Incidental Mutation 'R9777:Med13l'
ID |
733767 |
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 |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.968)
|
Stock # |
R9777 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
118698744-118903503 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 118887024 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 1642
(S1642P)
|
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: S1642P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000098379 Gene: ENSMUSG00000018076 AA Change: S1642P
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: S1642P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000144092 Gene: ENSMUSG00000018076 AA Change: S1642P
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: 99.8%
- 10x: 99.4%
- 20x: 98.3%
|
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgb |
A |
C |
10: 10,283,214 (GRCm39) |
M164R |
possibly damaging |
Het |
Alg10b |
T |
A |
15: 90,111,656 (GRCm39) |
C167S |
probably benign |
Het |
Ap2m1 |
C |
A |
16: 20,358,113 (GRCm39) |
R44S |
probably damaging |
Het |
Atrip |
T |
C |
9: 108,902,964 (GRCm39) |
S37G |
probably benign |
Het |
Bicra |
C |
T |
7: 15,705,987 (GRCm39) |
V1485M |
probably benign |
Het |
Brca2 |
C |
T |
5: 150,480,579 (GRCm39) |
T2755I |
probably damaging |
Het |
C1qtnf7 |
A |
T |
5: 43,673,313 (GRCm39) |
|
probably benign |
Het |
Ccdc7a |
C |
T |
8: 129,618,860 (GRCm39) |
A895T |
possibly damaging |
Het |
Cep290 |
T |
C |
10: 100,354,529 (GRCm39) |
M871T |
probably benign |
Het |
Col19a1 |
A |
G |
1: 24,318,904 (GRCm39) |
V1062A |
unknown |
Het |
Col24a1 |
T |
A |
3: 145,021,103 (GRCm39) |
Y491* |
probably null |
Het |
Cyp2c66 |
A |
T |
19: 39,102,520 (GRCm39) |
I50F |
probably benign |
Het |
Dbn1 |
C |
A |
13: 55,625,639 (GRCm39) |
R261L |
probably benign |
Het |
Dlat |
G |
A |
9: 50,562,208 (GRCm39) |
A272V |
probably damaging |
Het |
Dlgap3 |
A |
T |
4: 127,130,127 (GRCm39) |
E967V |
possibly damaging |
Het |
Dnhd1 |
A |
G |
7: 105,369,456 (GRCm39) |
M4360V |
probably benign |
Het |
Dock7 |
C |
T |
4: 98,877,464 (GRCm39) |
R1058Q |
unknown |
Het |
Dpp4 |
T |
A |
2: 62,195,340 (GRCm39) |
I313F |
probably benign |
Het |
Dus1l |
C |
T |
11: 120,683,858 (GRCm39) |
V197I |
possibly damaging |
Het |
Eef2k |
TATTCATTCATTCATTCATTCATTCATTCA |
TATTCATTCATTCATTCATTCATTCA |
7: 120,499,453 (GRCm39) |
|
probably benign |
Het |
Fat3 |
A |
G |
9: 15,826,537 (GRCm39) |
S324P |
probably benign |
Het |
Fkbp9 |
C |
T |
6: 56,855,181 (GRCm39) |
H567Y |
possibly damaging |
Het |
Galnt10 |
C |
A |
11: 57,672,065 (GRCm39) |
P452T |
probably damaging |
Het |
Glb1 |
A |
T |
9: 114,246,084 (GRCm39) |
D45V |
probably damaging |
Het |
Grm1 |
A |
T |
10: 10,573,826 (GRCm39) |
V904E |
possibly damaging |
Het |
Gsdma3 |
T |
G |
11: 98,526,071 (GRCm39) |
V274G |
probably damaging |
Het |
Gsn |
A |
G |
2: 35,194,600 (GRCm39) |
E681G |
probably damaging |
Het |
Hpdl |
A |
G |
4: 116,678,062 (GRCm39) |
L133P |
probably damaging |
Het |
Ighv1-75 |
A |
G |
12: 115,797,655 (GRCm39) |
L89P |
probably damaging |
Het |
Igsf21 |
T |
A |
4: 139,755,407 (GRCm39) |
Q416L |
probably damaging |
Het |
Il23a |
G |
C |
10: 128,132,829 (GRCm39) |
R143G |
probably benign |
Het |
Ildr1 |
A |
G |
16: 36,528,659 (GRCm39) |
T35A |
probably benign |
Het |
Ints13 |
G |
T |
6: 146,463,326 (GRCm39) |
H235Q |
probably damaging |
Het |
Lama4 |
C |
T |
10: 38,924,101 (GRCm39) |
T503I |
probably benign |
Het |
Mapk13 |
T |
A |
17: 28,997,075 (GRCm39) |
L289Q |
probably damaging |
Het |
Megf6 |
T |
A |
4: 154,343,617 (GRCm39) |
S713R |
probably damaging |
Het |
Mical3 |
A |
G |
6: 120,959,529 (GRCm39) |
V922A |
possibly damaging |
Het |
Mug1 |
C |
T |
6: 121,857,864 (GRCm39) |
T1119M |
probably damaging |
Het |
Myo18a |
T |
A |
11: 77,733,080 (GRCm39) |
M1370K |
possibly damaging |
Het |
Ndufa12 |
A |
G |
10: 94,056,692 (GRCm39) |
E140G |
probably damaging |
Het |
Nek4 |
T |
A |
14: 30,706,401 (GRCm39) |
D696E |
probably benign |
Het |
Oas1f |
A |
G |
5: 120,994,429 (GRCm39) |
T317A |
probably benign |
Het |
Or14c39 |
T |
C |
7: 86,343,988 (GRCm39) |
V108A |
probably benign |
Het |
Or2r11 |
A |
G |
6: 42,437,029 (GRCm39) |
I308T |
probably benign |
Het |
Or6c210 |
T |
C |
10: 129,495,705 (GRCm39) |
I10T |
probably benign |
Het |
Pcdh17 |
C |
T |
14: 84,683,683 (GRCm39) |
P50L |
probably benign |
Het |
Pgs1 |
A |
G |
11: 117,894,256 (GRCm39) |
E261G |
probably benign |
Het |
Pira12 |
T |
G |
7: 3,897,612 (GRCm39) |
R494S |
probably damaging |
Het |
Ppp1r1a |
T |
C |
15: 103,439,857 (GRCm39) |
E145G |
possibly damaging |
Het |
Ppp1r37 |
T |
C |
7: 19,295,783 (GRCm39) |
E58G |
probably benign |
Het |
Ptprc |
A |
T |
1: 138,047,901 (GRCm39) |
V77E |
|
Het |
Rhag |
A |
G |
17: 41,139,416 (GRCm39) |
E117G |
probably benign |
Het |
Sh3d19 |
C |
T |
3: 86,028,483 (GRCm39) |
S653L |
probably benign |
Het |
Sirpd |
C |
A |
3: 15,385,813 (GRCm39) |
E30* |
probably null |
Het |
Slc35a5 |
C |
T |
16: 44,972,939 (GRCm39) |
|
probably null |
Het |
Smc4 |
C |
T |
3: 68,929,655 (GRCm39) |
R510* |
probably null |
Het |
Sorcs1 |
A |
G |
19: 50,248,190 (GRCm39) |
|
probably null |
Het |
Sp140 |
A |
G |
1: 85,569,461 (GRCm39) |
N357S |
probably damaging |
Het |
Spic |
T |
A |
10: 88,514,421 (GRCm39) |
T60S |
possibly damaging |
Het |
Steap1 |
C |
A |
5: 5,786,517 (GRCm39) |
A307S |
probably benign |
Het |
Stk3 |
A |
T |
15: 35,114,791 (GRCm39) |
S40R |
probably damaging |
Het |
Taar1 |
T |
C |
10: 23,796,676 (GRCm39) |
C125R |
probably damaging |
Het |
Tep1 |
T |
A |
14: 51,076,443 (GRCm39) |
K1664* |
probably null |
Het |
Tmem198b |
C |
A |
10: 128,638,273 (GRCm39) |
V97L |
possibly damaging |
Het |
Xirp2 |
C |
A |
2: 67,347,379 (GRCm39) |
P3207T |
possibly damaging |
Het |
Zbtb38 |
C |
G |
9: 96,570,355 (GRCm39) |
S243T |
possibly damaging |
Het |
Zbtb38 |
T |
A |
9: 96,570,356 (GRCm39) |
S243C |
probably damaging |
Het |
Zfp692 |
C |
T |
11: 58,199,638 (GRCm39) |
R76W |
probably benign |
Het |
Zwilch |
A |
T |
9: 64,054,170 (GRCm39) |
L509H |
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 |
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 |
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'- GGCAGTGCATTCAATCCCAC -3'
(R):5'- GCACGCTGATTGACTCTCTC -3'
Sequencing Primer
(F):5'- AACAAGTAGTTCATCTGCCTCC -3'
(R):5'- TCTCTTAACAGGCCCTCGGAG -3'
|
Posted On |
2022-11-14 |