Mutagenetix > Incidental Mutation

Incidental Mutation 'R5634:Med13l'

440024

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

043285-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R5634 (G1)

Quality Score

100

Status

Validated

Chromosome

Chromosomal Location

118698744-118903503 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118698915 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 22 (F22S)

Ref Sequence

ENSEMBL: ENSMUSP00000144092 (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: F22S

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000098379
Gene: ENSMUSG00000018076
AA Change: F22S

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

possibly damaging
Transcript: ENSMUST00000201010
AA Change: F22S

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144092
Gene: ENSMUSG00000018076
AA Change: F22S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201036

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201614

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201696

Meta Mutation Damage Score

0.4332

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

98% (60/61)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	T	C	9: 53,494,921 (GRCm39)		probably benign	Het
Aen	A	T	7: 78,552,255 (GRCm39)	T34S	probably benign	Het
Apoh	T	A	11: 108,302,875 (GRCm39)	V280E	probably damaging	Het
Ccdc87	A	G	19: 4,890,693 (GRCm39)	H395R	probably benign	Het
Ccrl2	T	A	9: 110,885,055 (GRCm39)		probably null	Het
Cdh20	T	C	1: 104,902,800 (GRCm39)	F497S	probably damaging	Het
Cfap54	C	A	10: 92,740,125 (GRCm39)		probably benign	Het
Cimap1b	T	A	15: 89,262,410 (GRCm39)	T70S	probably benign	Het
Cipc	T	A	12: 86,999,749 (GRCm39)		probably null	Het
Col14a1	T	A	15: 55,381,694 (GRCm39)	Y1756N	probably damaging	Het
Cyp2c54	G	A	19: 40,060,858 (GRCm39)	A95V	possibly damaging	Het
Dcdc5	A	G	2: 106,234,325 (GRCm39)		noncoding transcript	Het
Dnah17	T	C	11: 117,943,752 (GRCm39)		probably null	Het
Eepd1	A	T	9: 25,514,849 (GRCm39)	N552I	probably benign	Het
Eif2ak4	A	T	2: 118,292,792 (GRCm39)	R1218W	probably damaging	Het
Fbxw18	T	A	9: 109,505,871 (GRCm39)	I467F	possibly damaging	Het
Ffar4	GCTTCTT	GCTT	19: 38,102,373 (GRCm39)		probably benign	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gpha2	A	G	19: 6,276,890 (GRCm39)	T25A	probably benign	Het
Grin3a	T	A	4: 49,792,843 (GRCm39)	I297F	probably damaging	Het
Herc2	G	A	7: 55,856,531 (GRCm39)	G3924R	probably damaging	Het
Hmcn2	G	T	2: 31,223,893 (GRCm39)	D97Y	probably damaging	Het
Igdcc4	G	A	9: 65,041,828 (GRCm39)	G1131D	probably benign	Het
Il18rap	T	C	1: 40,578,536 (GRCm39)		probably benign	Het
Ino80d	C	A	1: 63,101,442 (GRCm39)		probably benign	Het
Klhl1	T	C	14: 96,477,707 (GRCm39)	T454A	probably damaging	Het
Krt84	C	A	15: 101,437,084 (GRCm39)	V360L	probably benign	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Lrrc37	T	C	11: 103,432,840 (GRCm39)	N1267S	possibly damaging	Het
Mapkbp1	A	G	2: 119,803,576 (GRCm39)	N15S	probably damaging	Het
Mrc2	T	A	11: 105,227,040 (GRCm39)	C548*	probably null	Het
Nacad	T	C	11: 6,552,387 (GRCm39)	E268G	possibly damaging	Het
Nfxl1	A	G	5: 72,686,833 (GRCm39)	C527R	probably damaging	Het
Nphp1	A	T	2: 127,601,570 (GRCm39)	C412S	possibly damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or4g16	A	G	2: 111,137,437 (GRCm39)	I296V	probably benign	Het
Per2	C	T	1: 91,372,429 (GRCm39)	C215Y	probably benign	Het
Pias1	T	C	9: 62,803,255 (GRCm39)	T343A	probably benign	Het
Pja2	C	T	17: 64,599,862 (GRCm39)	V541M	probably damaging	Het
Plxna4	G	A	6: 32,214,658 (GRCm39)	Q608*	probably null	Het
Ppil4	T	A	10: 7,690,542 (GRCm39)	D398E	probably benign	Het
Ppp4r3a	T	A	12: 101,009,780 (GRCm39)	D8V	probably damaging	Het
Pstk	A	C	7: 130,973,072 (GRCm39)	D57A	probably damaging	Het
Ptprd	T	C	4: 75,990,255 (GRCm39)	I53V	probably benign	Het
Pyroxd2	A	G	19: 42,728,924 (GRCm39)	F159L	probably benign	Het
Rnf103	A	G	6: 71,486,601 (GRCm39)	M411V	probably benign	Het
Scn4a	T	C	11: 106,220,830 (GRCm39)	D943G	probably benign	Het
Sdk2	T	C	11: 113,742,540 (GRCm39)	T790A	probably damaging	Het
Sfr1	T	C	19: 47,722,310 (GRCm39)	L242P	probably damaging	Het
Snx25	T	C	8: 46,494,428 (GRCm39)	D819G	possibly damaging	Het
Sult2b1	A	G	7: 45,383,506 (GRCm39)	V183A	probably damaging	Het
Tcf4	C	A	18: 69,769,918 (GRCm39)	S8R	possibly damaging	Het
Ttc7	A	G	17: 87,649,515 (GRCm39)	D531G	probably benign	Het
Uap1l1	A	C	2: 25,254,145 (GRCm39)	C271G	probably damaging	Het
Ubtf	T	C	11: 102,201,150 (GRCm39)	Y268C	probably damaging	Het
Vinac1	A	T	2: 128,881,406 (GRCm39)	D173E	probably benign	Het
Zfp951	A	T	5: 104,963,155 (GRCm39)	M137K	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
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
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'- CTTGGAGATAAACAAGGCGGCC -3'
(R):5'- CTTCCACATTTCGGGGAAGGAG -3'

Sequencing Primer
(F):5'- tcgtcgccgtcgtcgcca -3'
(R):5'- AGGGGGTGTGATTGCCAC -3'

Posted On

2016-11-08